Incidental Mutation 'R4929:Vamp2'
ID 381099
Institutional Source Beutler Lab
Gene Symbol Vamp2
Ensembl Gene ENSMUSG00000020894
Gene Name vesicle-associated membrane protein 2
Synonyms Syb-2, synaptobrevin-2, synaptobrevin II, Syb2, sybII
MMRRC Submission 042530-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.469) question?
Stock # R4929 (G1)
Quality Score 138
Status Validated
Chromosome 11
Chromosomal Location 68979354-68983207 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 68979488 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021273] [ENSMUST00000117780]
AlphaFold P63044
Predicted Effect probably benign
Transcript: ENSMUST00000021273
SMART Domains Protein: ENSMUSP00000021273
Gene: ENSMUSG00000020894

DomainStartEndE-ValueType
low complexity region 3 24 N/A INTRINSIC
Pfam:Synaptobrevin 28 116 3.7e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117780
SMART Domains Protein: ENSMUSP00000112611
Gene: ENSMUSG00000020894

DomainStartEndE-ValueType
low complexity region 3 24 N/A INTRINSIC
Pfam:Synaptobrevin 28 113 4.9e-37 PFAM
low complexity region 148 159 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146847
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149559
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149780
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency 100% (66/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 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 thought to participate in neurotransmitter release at a step between docking and fusion. The protein forms a stable complex with syntaxin, synaptosomal-associated protein, 25 kD, and synaptotagmin. It also forms a distinct complex with synaptophysin. It is a likely candidate gene for familial infantile myasthenia (FIMG) because of its map location and because it encodes a synaptic vesicle protein of the type that has been implicated in the pathogenesis of FIMG. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants show 10X reduction in synaptic vesicle fusion and hypertonic sucrose-induced fusion and >100X reduction in fusion triggered by fast Ca2+. Newborn pups are rounded in appearance, with humped shoulders, and die immediately. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A G 7: 29,273,467 (GRCm39) noncoding transcript Het
Abcd3 A T 3: 121,562,395 (GRCm39) probably null Het
Adamts12 C T 15: 11,259,108 (GRCm39) R551C probably damaging Het
Adamtsl4 A G 3: 95,585,315 (GRCm39) C818R probably damaging Het
Arfgef3 T A 10: 18,506,599 (GRCm39) Q842L probably benign Het
Aurka A T 2: 172,212,326 (GRCm39) V17E probably benign Het
Cdh24 C T 14: 54,870,973 (GRCm39) V132I probably benign Het
Cep57l1 T C 10: 41,621,910 (GRCm39) D2G possibly damaging Het
Cntn5 T A 9: 9,976,400 (GRCm39) probably null Het
Col10a1 T C 10: 34,271,120 (GRCm39) I364T probably benign Het
Dpp6 G A 5: 27,254,785 (GRCm39) A67T probably benign Het
Dym T A 18: 75,376,357 (GRCm39) V583E probably damaging Het
Efcab5 T G 11: 76,994,209 (GRCm39) K1259N probably benign Het
Ehbp1 T G 11: 22,189,169 (GRCm39) I78L possibly damaging Het
Epha1 C A 6: 42,341,533 (GRCm39) A469S probably benign Het
Fam135a T C 1: 24,069,081 (GRCm39) D596G probably benign Het
Filip1 T C 9: 79,727,029 (GRCm39) N530S probably benign Het
Gm57858 G A 3: 36,089,487 (GRCm39) L146F probably damaging Het
Grhl2 A G 15: 37,361,046 (GRCm39) N610S probably benign Het
Haus6 T C 4: 86,513,670 (GRCm39) I331V probably benign Het
Ints2 G T 11: 86,103,479 (GRCm39) N1192K possibly damaging Het
Itga5 A G 15: 103,261,662 (GRCm39) V445A probably benign Het
Itga9 C A 9: 118,636,317 (GRCm39) D82E probably damaging Het
Jam2 G A 16: 84,619,750 (GRCm39) probably benign Het
Klhl32 T A 4: 24,709,030 (GRCm39) I112F probably damaging Het
Lepr A G 4: 101,672,314 (GRCm39) I1113V probably benign Het
Lrrc3b C A 14: 15,357,888 (GRCm38) L239F probably damaging Het
Lzic T A 4: 149,572,585 (GRCm39) probably null Het
Mxra8 T A 4: 155,927,118 (GRCm39) F351I probably damaging Het
Naa40 A G 19: 7,207,347 (GRCm39) F126L probably damaging Het
Nbeal1 C T 1: 60,277,813 (GRCm39) S733F probably damaging Het
Olr1 T C 6: 129,477,044 (GRCm39) T74A probably damaging Het
Or52x1 A G 7: 104,853,232 (GRCm39) I106T probably damaging Het
Or5aq7 A G 2: 86,938,527 (GRCm39) F68S possibly damaging Het
Or5h17 A C 16: 58,820,582 (GRCm39) Y178S probably damaging Het
Pgam5 A T 5: 110,413,691 (GRCm39) V130D probably damaging Het
Pop4 A G 7: 37,965,573 (GRCm39) C115R probably damaging Het
Prpf18 A T 2: 4,629,348 (GRCm39) probably null Het
Psg16 G A 7: 16,829,031 (GRCm39) R205H possibly damaging Het
Ptgr1 C A 4: 58,981,879 (GRCm39) A53S probably benign Het
Shank2 A G 7: 143,965,008 (GRCm39) D1451G probably benign Het
Slfn10-ps A G 11: 82,920,345 (GRCm39) noncoding transcript Het
Sox8 G A 17: 25,789,330 (GRCm39) A56V probably benign Het
Ssr3 A G 3: 65,295,175 (GRCm39) S113P probably damaging Het
Stx16 T C 2: 173,938,721 (GRCm39) Y296H possibly damaging Het
Tfcp2 A T 15: 100,426,370 (GRCm39) N60K probably benign Het
Thada T C 17: 84,751,654 (GRCm39) T441A probably benign Het
Trf G T 9: 103,105,074 (GRCm39) probably benign Het
Vmn2r105 A T 17: 20,448,280 (GRCm39) D181E probably benign Het
Vmn2r12 A T 5: 109,239,544 (GRCm39) Y340N probably damaging Het
Wasf2 C A 4: 132,923,170 (GRCm39) D493E unknown Het
Wdfy4 T C 14: 32,769,213 (GRCm39) D2084G possibly damaging Het
Zfp229 T A 17: 21,965,354 (GRCm39) I528N probably damaging Het
Zfp703 T A 8: 27,468,879 (GRCm39) V181E possibly damaging Het
Other mutations in Vamp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02104:Vamp2 APN 11 68,981,483 (GRCm39) missense probably benign 0.27
IGL02541:Vamp2 APN 11 68,979,977 (GRCm39) missense unknown
PIT4378001:Vamp2 UTSW 11 68,980,564 (GRCm39) missense probably benign 0.02
R0048:Vamp2 UTSW 11 68,980,585 (GRCm39) missense possibly damaging 0.63
R0048:Vamp2 UTSW 11 68,980,585 (GRCm39) missense possibly damaging 0.63
R3945:Vamp2 UTSW 11 68,980,000 (GRCm39) missense unknown
R4827:Vamp2 UTSW 11 68,980,637 (GRCm39) missense probably benign 0.01
R9218:Vamp2 UTSW 11 68,980,585 (GRCm39) missense possibly damaging 0.63
Z1176:Vamp2 UTSW 11 68,980,609 (GRCm39) missense probably benign 0.22
Z1186:Vamp2 UTSW 11 68,980,889 (GRCm39) missense possibly damaging 0.75
Z1186:Vamp2 UTSW 11 68,979,411 (GRCm39) start gained probably benign
Z1187:Vamp2 UTSW 11 68,980,889 (GRCm39) missense possibly damaging 0.75
Z1187:Vamp2 UTSW 11 68,979,411 (GRCm39) start gained probably benign
Z1188:Vamp2 UTSW 11 68,980,889 (GRCm39) missense possibly damaging 0.75
Z1188:Vamp2 UTSW 11 68,979,411 (GRCm39) start gained probably benign
Z1189:Vamp2 UTSW 11 68,980,889 (GRCm39) missense possibly damaging 0.75
Z1189:Vamp2 UTSW 11 68,979,411 (GRCm39) start gained probably benign
Z1190:Vamp2 UTSW 11 68,980,889 (GRCm39) missense possibly damaging 0.75
Z1190:Vamp2 UTSW 11 68,979,411 (GRCm39) start gained probably benign
Z1191:Vamp2 UTSW 11 68,980,889 (GRCm39) missense possibly damaging 0.75
Z1191:Vamp2 UTSW 11 68,979,411 (GRCm39) start gained probably benign
Z1192:Vamp2 UTSW 11 68,980,889 (GRCm39) missense possibly damaging 0.75
Z1192:Vamp2 UTSW 11 68,979,411 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TCGGTTGTGGGTGCCAAAAG -3'
(R):5'- CCGAAATGACTGACGGCCATAG -3'

Sequencing Primer
(F):5'- TCCGCTTGCGACGTGTC -3'
(R):5'- CTGACGGCCATAGTGACAG -3'
Posted On 2016-04-15