FlyBase Allele Report: Dmel\Rab3[rup]

General Information

Symbol

Dmel\Rab3^rup

Species

D. melanogaster

Name

running-unapposed

FlyBase ID

FBal0242917

Feature type

allele

Associated gene

Dmel\Rab3

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - genetic evidence

Mutagen

Nature of the Allele

Allele class

amorphic allele - genetic evidence

(Graf et al., 2009)

Mutagen

Progenitor genotype

Cytology

Description

5bp deletion near the 3' end of Rab3, which produces in a frameshift that results in a deletion of the last 35 amino acid residues (including the final CXC motif).

(Graf et al., 2009)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

2R:10,723,913..10,723,916

Reported_genomic_loc:

2R_r5:6611417..6611421

Comment:

A 5bp deletion (TGTCC) in the Rab3 coding region that causes a frameshift and early translation termination.

(Graf E. and DiAntonio A., 2012.12.18)

Variant Molecular Consequences

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

Expression Data

Reporter Expression

Additional Information

Statement

Reference

Marker for

Reflects expression of

Reporter construct used in assay

Human Disease Associations

Disease Ontology (DO) Annotations

Models Based on Experimental Evidence ( 0 )

Disease

Evidence

References

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal developmental rate | larval stage | cold sensitive

(Kohrs et al., 2021)

abnormal neuroanatomy (with Df(2R)ED2076)

(Peled and Isacoff, 2011, Graf et al., 2009)

abnormal neuroanatomy | larval stage

(Kang et al., 2024)

abnormal neuroanatomy | third instar larval stage (with Df(2R)ED2076)

(Bae et al., 2016, Chen et al., 2015)

abnormal neurophysiology (with Df(2R)ED2076)

(Peled and Isacoff, 2011, Graf et al., 2009)

abnormal neurophysiology | adult stage

(Kohrs et al., 2021)

abnormal neurophysiology | third instar larval stage

(Ehmann et al., 2014)

abnormal neurophysiology | third instar larval stage (with Df(2R)ED2076)

(Bae et al., 2016, Chen et al., 2015)

decreased size | adult stage

(Kohrs et al., 2021)

fertile

(Kohrs et al., 2021, Graf et al., 2009)

viable

(Kohrs et al., 2021, Graf et al., 2009)

visible | adult stage

(Kohrs et al., 2021)

Phenotype Manifest In

Detailed Description

Statement

Reference

At the neuromuscular junction of Rab3^rup/Df(2R)ED2076 third instar larvae, there is a significant decrease in the percentage of GluRIIC clusters apposed by brp active zones and a significant increase in brp area. Phenotypes are indistinguishable from those seen in Rab3-GEF^SC225/Df(1)ED7289 larvae. Voltage-clamp recordings from muscles at the NMJ of Rab3-GEF^SC225/Df(1)ED7289 third instar larvae reveal that spontaneous miniature EJC amplitude and EJC amplitude evoked by low frequency stimuli (in 0.4mM Ca[2+]) is similar to wild type; however, short-term facilitation is nearly absent in Rab3^rup/Df(2R)ED2076 larvae (occurs in wild type with high-frequency stimulation along with low extracellular calcium).

(Bae et al., 2016)

Unlike wild type (almost all GluRIIC clusters, which localize opposite release sites, are apposed to brp, which marks presynaptic active zones), only around one third of GluRIIC clusters are apposed to brp and active zones (brp area) are significantly larger at the neuromuscular junction (NMJ) of Rab3^rup/Df(2R)ED2076 third instar larvae.

Rab3^rup/Df(2R)ED2076 larvae are similar to wild type in terms of spontaneous miniature excitatory junctional (mEJC) amplitude, EJC amplitude (evoked by a single action potential) and quantal content, but are defective in short-term facilitation (muscle 6 NMJs from segments A3 and A4).

(Chen et al., 2015)

The active zone cytomatrix of the active zones is significantly enlarged compared to controls (assayed using direct stochastic optical reconstruction microscopy).

Both paired pulse-stimulation and high-frequency trains of activity produced pronounced short-term depression of evoked excitatory postsynaptic currents in mutant larval neuromuscular junctions.

(Ehmann et al., 2014)

Rab3^rup mutant neuromuscular junctions exhibit average mEPSPs, EPSP amplitudes, and quantal contents that are similar to wild-type.

Rab3^rup mutants challenged with philanthotoxin-433 (PhTX) exhibit a significant decrease in mEPSP amplitude with respect to controls. Following application of PhTX, Rab3^rup mutants exhibit a robust increase in quantal content that restores EPSP amplitudes towards wild-type. Although EPSP amplitudes remain significantly smaller than baseline, this difference is relatively small and there is a pronounced, significant increase in quantal content indicative of a clear homeostatic increase in presynaptic release.

(Müller et al., 2011)

Rab3^rup/Df(2R)ED2076 mutant neuromuscular junctions only exhibit synaptic activity at a subset of 'enriched' active zones. The density of transmission spots is reduced by half in these mutants. Evoked excitatory post-synaptic current amplitudes are larger by 50% in these mutants in 1.5mM external Ca[2+] concentration than in controls. These mutants show a decrease in short-term facilitation.

(Peled and Isacoff, 2011)

The gross morphology of the mutant third larval instar neuromuscular junction (NMJ) is normal, and the synaptic terminal area is not significantly different from wild type.

Ultrastructurally, the active zone length at the Rab3^rup/Df(2R)ED2076 larval NMJ is no different from wild type, while active zone number per micron is mildly reduced. The ratio of T bars to active zones is normal at the mutant NMJ. However, the distribution of T bars at the active zones is dramatically altered, with a 30% decrease in the proportion of active zone sections with a T bar and a more than 3-fold increase in the proportion of T-bar positive active zone sections with multiple T bars. Active zones with 3, 4 and 5 T bars are seen in the mutant NMJ (the largest number of T bars seen at a single active zone in wild type is 2). The distribution of synaptic vesicles in the active zone regions is normal in Rab3^rup/Df(2R)ED2076 larvae.

The amplitude of the evoked excitatory junctional current (EJC) and of the spontaneous miniature EJC is normal in mutant neuromuscular junctions, and thus the quantal content (EJC/mEJC) is normal.

At a stimulation frequency of 10Hz in 0.40 mM Ca[2+], both wild-type and Rab3^rup/Df(2R)ED2076 NMJs facilitate, but facilitation is significantly decreased in the mutant.

(Graf et al., 2009)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Rab3^rup has abnormal neuroanatomy | larval stage phenotype, enhanceable by Scer\GAL4^elav.PU/Sec15^KK101708

(Kang et al., 2024)

NOT Enhanced by

Statement

Reference

Df(2R)ED2076/Rab3^rup has abnormal neuroanatomy | third instar larval stage phenotype, non-enhanceable by Rab3-GEF^SC225/Rab3-GEF^SC225

(Bae et al., 2016)

NOT suppressed by

Statement

Reference

Rab3^rup has abnormal neurophysiology phenotype, non-suppressible by Rab3-GAP^c04953

(Müller et al., 2011)

Enhancer of

Statement

Reference

Rab3^rup is an enhancer of abnormal neurophysiology | chemical sensitive phenotype of Rab3-GAP^c04953

(Müller et al., 2011)

Rab3^rup is an enhancer of abnormal neurophysiology phenotype of Rab3-GAP^c04953

(Müller et al., 2011)

NOT Enhancer of

Statement

Reference

Df(2R)ED2076/Rab3^rup is a non-enhancer of abnormal neuroanatomy | third instar larval stage phenotype of Rab3-GEF^SC225

(Bae et al., 2016)

Other

Statement

Reference

GluRIIA^SP16, Rab3^rup has abnormal neurophysiology phenotype

(Müller et al., 2011)

Rab3-GAP^c04953, Rab3^rup has abnormal neurophysiology phenotype

(Müller et al., 2011)

Phenotype Manifest In

Enhanced by

Statement

Reference

Rab3^rup has presynaptic active zone | larval stage phenotype, enhanceable by Scer\GAL4^elav.PU/Sec15^KK101708

(Kang et al., 2024)

Rab3^rup has type I bouton | larval stage phenotype, enhanceable by Scer\GAL4^elav.PU/Sec15^KK101708

(Kang et al., 2024)

NOT Enhanced by

Statement

Reference

Df(2R)ED2076/Rab3^rup has embryonic/larval neuromuscular junction | third instar larval stage phenotype, non-enhanceable by Rab3-GEF^SC225/Rab3-GEF^SC225

(Bae et al., 2016)

NOT Enhancer of

Statement

Reference

Df(2R)ED2076/Rab3^rup is a non-enhancer of embryonic/larval neuromuscular junction | third instar larval stage phenotype of Rab3-GEF^SC225

(Bae et al., 2016)

Additional Comments

Genetic Interactions

Statement

Reference

Rab3-GEF^SC225/Rab3-GEF^SC225;Rab3^rup/Df(2R)ED2076 double mutant larvae show similar active zone phenotypes as seen at the NMJ in Rab3-GEF^SC225/Rab3-GEF^SC225 or Rab3^rup/Df(2R)ED2076 alone.

(Bae et al., 2016)

Rab3^rup GluRIIA^SP16 double mutants exhibit a robust, homeostatic increase in transmitter release that is similar to the one found in GluRIIA^SP16 single mutants.

Philanthotoxin-433 (PhTX) causes a significant decrease in mEPSP amplitude in rab3-GAP^c04953 Rab3^rup double mutants. A significant, nearly 2-fold increase in quantal content is observed following PhTX treatment in the double mutant compared to controls, indicating that rab3-GAP^c04953 Rab3^rup double mutants undergo synaptic homeostasis.

rab3-GAP^c04953 Rab3^rup double mutants exhibit major defects in baseline transmission.

rab3-GAP^c04953 Rab3^rup double mutants exhibit synapse morphology defects that are identical to those observed in Rab3^rup alone.

(Müller et al., 2011)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

Df(2R)ED2076/Rab3^rup is rescued by Scer\GAL4^VGlut.PD/Rab3^UAS.cCa

(Chen et al., 2015)

Df(2R)ED2076/Rab3^rup is rescued by Rab3^Q80L.UAS/Scer\GAL4^VGlut.PD

(Chen et al., 2015)

Df(2R)ED2076/Rab3^rup is rescued by Scer\GAL4^VGlut.PD/Rab3^F58S.UAS

(Chen et al., 2015)

Df(2R)ED2076/Rab3^rup is rescued by Scer\GAL4^VGlut.PD/Rab3^V51A.UAS

(Chen et al., 2015)

Df(2R)ED2076/Rab3^rup is rescued by Scer\GAL4^VGlut.PD/Rab3^S52A.UAS

(Chen et al., 2015)

Df(2R)ED2076/Rab3^rup is rescued by Rab3^{FDY18-20AAA.UAS}/Scer\GAL4^VGlut.PD

(Chen et al., 2015)

Df(2R)ED2076/Rab3^rup is rescued by Scer\GAL4^VGlut.PD/Rab3^{WDN124-126AAA.UAS}

(Chen et al., 2015)

Df(2R)ED2076/Rab3^rup is rescued by Scer\GAL4^VGlut.PD/Rab3^{KM185-186AA.UAS}

(Chen et al., 2015)

Df(2R)ED2076/Rab3^rup is rescued by Rab3^{L189-190AA.UAS}/Scer\GAL4^VGlut.PD

(Chen et al., 2015)

Df(2R)ED2076/Rab3^rup is rescued by Rab3^UAS.cGa/Scer\GAL4^VGlut.PD

(Graf et al., 2009)

Partially rescued by

Df(2R)ED2076/Rab3^rup is partially rescued by Scer\GAL4^VGlut.PD/Rab3^F50A.UAS

(Chen et al., 2015)

Df(2R)ED2076/Rab3^rup is partially rescued by Scer\GAL4^VGlut.PD/Rab3^T53A.UAS

(Chen et al., 2015)

Df(2R)ED2076/Rab3^rup is partially rescued by Rab3^R82A.UAS/Scer\GAL4^VGlut.PD

(Chen et al., 2015)

Df(2R)ED2076/Rab3^rup is partially rescued by Scer\GAL4^VGlut.PD/Rab3^Y83A.UAS

(Chen et al., 2015)

Not rescued by

Df(2R)ED2076/Rab3^rup is not rescued by Scer\GAL4^VGlut.PD/Rab3^{N134I.UAS.cCa}

(Chen et al., 2015)

Df(2R)ED2076/Rab3^rup is not rescued by Rab3^T35N.UAS/Scer\GAL4^VGlut.PD

(Chen et al., 2015)

Df(2R)ED2076/Rab3^rup is not rescued by Scer\GAL4^VGlut.PD/Rab3^ΔC.UAS

(Chen et al., 2015)

Rab3^rup is not rescued by Scer\GAL4^elav-C155/Rab3^{Q80L.UASp.YFP}

(Müller et al., 2011)

Comments

Expression of Rab3^Scer\UAS.cCa or Rab3^{Q80L.Scer\UAS} or Rab3^{F58S.Scer\UAS} or Rab3^{V51A.Scer\UAS} or Rab3^{S52A.Scer\UAS} or Rab3^{L189-190AA.Scer\UAS} or Rab3^{KM185-186AA.Scer\UAS} or Rab3^{WDN124-126AAA.Scer\UAS} or Rab3^{FDY18-20AAA.Scer\UAS} (but not Rab3^{N134I.Scer\UAS.cCa} or Rab3^{T35N.Scer\UAS} or Rab3^ΔC.Scer\UAS) driven by Scer\GAL4^VGlut.PD rescues active zone defects at the NMJ of Rab3^rup/Df(2R)ED2076 third instar larvae; expression of Rab3^{Q80L.Scer\UAS} also rescues defective short-term facilitation at the NMJ of Rab3^rup/Df(2R)ED2076 third instar larvae. Expression of Rab3^{F50A.Scer\UAS} or Rab3^{T53A.Scer\UAS} or Rab3^{R82A.Scer\UAS} or Rab3^{Y83A.Scer\UAS} driven by Scer\GAL4^VGlut.PD partially rescues active zone defects at the NMJ of Rab3^rup/Df(2R)ED2076 third instar larvae.

(Chen et al., 2015)

Expression of Rab3^{Q80L.Scer\UAS.P\T.T:Avic\GFP-YFP} under the control of Scer\GAL4^elav-C155 in a Rab3^rup background has no effect on synaptic homeostasis. However Rab3^{Q80L.Scer\UAS.P\T.T:Avic\GFP-YFP} is able to rescue the defects in active zone organization observed in Rab3^rup mutants.

(Müller et al., 2011)

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

78045

w^*; Rab3^rup

Notes on Origin

Discoverer

Separable from: P{SUPor-P}KG07292.

(Graf et al., 2009)

The Rab3^rup mutation is a second-site mutation that is present on the P{SUPor-P}KG07292 chromosome.

(Graf et al., 2009)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (4)

Reported As

Symbol Synonym

Rab3^rup

(Zhou et al., 2023, Ochi et al., 2022, Kohrs et al., 2021, Li et al., 2017, Böhme et al., 2016, Zirin et al., 2015, Nechipurenko and Broihier, 2012, Cheng et al., 2011, Peled and Isacoff, 2011)

rab3^rup

(Kang et al., 2024, Williams et al., 2019, Akbergenova et al., 2018, Bae et al., 2016, Chen et al., 2015, Ehmann et al., 2014, Peled et al., 2014, Graf et al., 2012, Müller et al., 2011, Graf et al., 2009)

rup

(Graf et al., 2009)

Name Synonyms

running-unapposed

(Graf et al., 2009)

Secondary FlyBase IDs

References (21)

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