Incidental Mutation 'R8540:Vamp3'
ID 659361
Institutional Source Beutler Lab
Gene Symbol Vamp3
Ensembl Gene ENSMUSG00000028955
Gene Name vesicle-associated membrane protein 3
Synonyms cellubrevin, D130027G05Rik, VAMP-3, ceb
MMRRC Submission 068506-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8540 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 151131762-151142410 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 151135507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 37 (V37A)
Ref Sequence ENSEMBL: ENSMUSP00000030797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030797] [ENSMUST00000169423]
AlphaFold P63024
Predicted Effect possibly damaging
Transcript: ENSMUST00000030797
AA Change: V37A

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000030797
Gene: ENSMUSG00000028955
AA Change: V37A

DomainStartEndE-ValueType
Pfam:Synaptobrevin 15 103 4.2e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169423
SMART Domains Protein: ENSMUSP00000127916
Gene: ENSMUSG00000014592

DomainStartEndE-ValueType
CG-1 67 183 1.39e-91 SMART
low complexity region 550 583 N/A INTRINSIC
low complexity region 677 688 N/A INTRINSIC
Pfam:TIG 874 954 3.1e-11 PFAM
low complexity region 997 1030 N/A INTRINSIC
ANK 1066 1095 1.7e2 SMART
ANK 1111 1141 4.73e2 SMART
low complexity region 1301 1319 N/A INTRINSIC
IQ 1548 1564 2.38e2 SMART
IQ 1578 1600 5.42e0 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (37/37)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Because of its high homology to other known VAMPs, its broad tissue distribution, and its subcellular localization, the protein encoded by this gene was shown to be the human equivalent of the rodent cellubrevin. In platelets the protein resides on a compartment that is not mobilized to the plasma membrane on calcium or thrombin stimulation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation lack vesicle-associated membrane protein 3 but are apparently normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp2 A T 6: 140,579,437 (GRCm39) I225L probably benign Het
Aebp2 A G 6: 140,579,439 (GRCm39) I225M probably benign Het
Ap2a1 C A 7: 44,553,750 (GRCm39) G566C probably damaging Het
Cdk15 T C 1: 59,349,992 (GRCm39) V328A possibly damaging Het
Cyld G A 8: 89,473,568 (GRCm39) G929D probably damaging Het
Ddx50 G A 10: 62,476,569 (GRCm39) L235F possibly damaging Het
Dlg5 T C 14: 24,208,767 (GRCm39) D813G probably damaging Het
Epb41l3 C T 17: 69,593,757 (GRCm39) T797M probably damaging Het
Foxred2 G A 15: 77,836,212 (GRCm39) R382W probably damaging Het
Gm5798 T A 14: 41,070,674 (GRCm39) I28N possibly damaging Het
Grb14 C T 2: 64,851,478 (GRCm39) V91M probably benign Het
Ints6 T C 14: 62,934,353 (GRCm39) D718G probably benign Het
Man2a1 C A 17: 64,965,982 (GRCm39) H307N probably benign Het
Mylk T C 16: 34,750,257 (GRCm39) Y1199H possibly damaging Het
Nim1k T C 13: 120,175,718 (GRCm39) S163G probably benign Het
Or1r1 A G 11: 73,875,153 (GRCm39) F94L probably damaging Het
Or51f5 G C 7: 102,424,339 (GRCm39) A203P possibly damaging Het
Or5ac16 A T 16: 59,022,323 (GRCm39) H155Q possibly damaging Het
Or8h6 C A 2: 86,703,776 (GRCm39) C97F probably damaging Het
Phyhip A G 14: 70,704,594 (GRCm39) D271G probably benign Het
Pramel27 T A 4: 143,579,496 (GRCm39) S360R probably benign Het
Pycr2 G A 1: 180,734,178 (GRCm39) A187T possibly damaging Het
Ryr3 T A 2: 112,630,367 (GRCm39) E2148V probably damaging Het
Septin12 T C 16: 4,805,481 (GRCm39) H304R probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Ssx2ip T C 3: 146,124,114 (GRCm39) V43A probably benign Het
Syne2 A T 12: 76,141,148 (GRCm39) N6087Y probably damaging Het
Tbc1d4 A T 14: 101,845,712 (GRCm39) I62N probably damaging Het
Ttn C T 2: 76,573,337 (GRCm39) G24106D probably damaging Het
Uhrf1 T A 17: 56,612,105 (GRCm39) I3N probably damaging Het
Urgcp A C 11: 5,667,915 (GRCm39) L141R probably damaging Het
Ush2a G A 1: 188,274,858 (GRCm39) R1777H probably benign Het
Vmn1r172 C T 7: 23,359,498 (GRCm39) L128F possibly damaging Het
Vmn1r76 A G 7: 11,664,897 (GRCm39) Y71H probably damaging Het
Vmn2r111 C T 17: 22,778,023 (GRCm39) probably null Het
Vmn2r111 T A 17: 22,778,024 (GRCm39) N552Y probably damaging Het
Vmn2r81 A T 10: 79,129,065 (GRCm39) N652I probably damaging Het
Vmn2r87 T C 10: 130,314,762 (GRCm39) N275D possibly damaging Het
Wrn T A 8: 33,842,154 (GRCm39) I47F probably damaging Het
Other mutations in Vamp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1882:Vamp3 UTSW 4 151,135,366 (GRCm39) intron probably benign
R1944:Vamp3 UTSW 4 151,140,617 (GRCm39) critical splice donor site probably null
R5543:Vamp3 UTSW 4 151,135,477 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCATAGTTGGCCAAGATTCTACCC -3'
(R):5'- GCCTGGGCTTCCTTCTTAAG -3'

Sequencing Primer
(F):5'- TGCCTGTGCAACACTTGG -3'
(R):5'- CCTTCTTAAGTGGAAGTTTAGCTC -3'
Posted On 2021-01-18