Incidental Mutation 'IGL02104:Vamp2'
ID279867
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vamp2
Ensembl Gene ENSMUSG00000020894
Gene Namevesicle-associated membrane protein 2
SynonymssybII, Syb-2, synaptobrevin II, Syb2
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.695) question?
Stock #IGL02104
Quality Score
Status
Chromosome11
Chromosomal Location69088490-69092384 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 69090657 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 114 (F114L)
Ref Sequence ENSEMBL: ENSMUSP00000021273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021273] [ENSMUST00000101004] [ENSMUST00000117780]
Predicted Effect probably benign
Transcript: ENSMUST00000021273
AA Change: F114L

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000021273
Gene: ENSMUSG00000020894
AA Change: F114L

DomainStartEndE-ValueType
low complexity region 3 24 N/A INTRINSIC
Pfam:Synaptobrevin 28 116 3.7e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101004
SMART Domains Protein: ENSMUSP00000098566
Gene: ENSMUSG00000020893

DomainStartEndE-ValueType
low complexity region 48 115 N/A INTRINSIC
low complexity region 142 154 N/A INTRINSIC
PAS 208 275 4.19e0 SMART
PAS 348 414 1.12e-4 SMART
PAC 422 465 1.6e0 SMART
low complexity region 473 481 N/A INTRINSIC
low complexity region 513 543 N/A INTRINSIC
low complexity region 571 578 N/A INTRINSIC
low complexity region 652 666 N/A INTRINSIC
low complexity region 747 772 N/A INTRINSIC
low complexity region 794 808 N/A INTRINSIC
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
Coding Region Coverage
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933440M02Rik T C 7: 125,331,542 noncoding transcript Het
Abcb5 T A 12: 118,940,680 Q125L probably damaging Het
Acap3 G A 4: 155,905,085 R662H probably damaging Het
Aox4 T A 1: 58,236,657 probably benign Het
Aqp6 T C 15: 99,604,278 S285P probably benign Het
Arhgef5 A T 6: 43,272,411 Q32L probably damaging Het
B3gnt6 G T 7: 98,194,101 D217E probably damaging Het
Chd6 T C 2: 160,977,512 I1338V probably benign Het
Clic6 A G 16: 92,498,479 E9G possibly damaging Het
Col11a1 T A 3: 114,181,397 probably null Het
Dcdc2b T A 4: 129,611,074 D88V probably benign Het
Dis3l T A 9: 64,310,329 K791N possibly damaging Het
Dmxl2 A T 9: 54,404,015 Y1008* probably null Het
Dnah11 A G 12: 118,192,390 V175A probably benign Het
Efl1 A G 7: 82,658,055 probably null Het
Fam117b C T 1: 59,949,119 T219I probably benign Het
Fgf21 T A 7: 45,615,224 Q28L probably benign Het
Folh1 T C 7: 86,744,430 Q391R possibly damaging Het
Gars A G 6: 55,077,697 D663G probably damaging Het
Lats2 A G 14: 57,734,012 F69L probably damaging Het
Lrp2 C T 2: 69,510,418 V1038M probably damaging Het
Map3k1 A T 13: 111,756,243 V826E probably damaging Het
Mapkap1 T A 2: 34,623,470 Y497* probably null Het
Mast3 T C 8: 70,787,906 I296V possibly damaging Het
Mon1a T G 9: 107,901,615 L346R probably damaging Het
Mphosph8 T C 14: 56,674,579 L353S probably benign Het
Muc5ac T C 7: 141,811,078 Y2634H probably damaging Het
Mylk A G 16: 34,815,435 T9A probably benign Het
Olfr1031 G T 2: 85,992,386 D190Y probably damaging Het
Olfr1440 T A 19: 12,394,899 V212D probably damaging Het
Olfr1484 T A 19: 13,585,604 M57K probably damaging Het
Olfr418 T C 1: 173,271,036 V287A probably damaging Het
Olfr543 C A 7: 102,477,337 V178F probably damaging Het
Olfr761 A C 17: 37,952,291 H244Q probably damaging Het
Olfr843 A T 9: 19,248,870 H176Q probably benign Het
Pabpc2 A C 18: 39,774,883 Q400H possibly damaging Het
Pigg A G 5: 108,342,097 Y856C probably damaging Het
Plekhn1 A T 4: 156,222,408 V508E probably benign Het
Pom121l2 C A 13: 21,982,275 H239N possibly damaging Het
Prdm2 A G 4: 143,133,427 S1098P probably benign Het
Rnf212 A G 5: 108,747,440 I41T possibly damaging Het
Rngtt A G 4: 33,320,517 probably null Het
Rpn2 C T 2: 157,321,827 T613M probably damaging Het
Scd4 G T 19: 44,344,747 V304F possibly damaging Het
Sez6l A G 5: 112,426,764 probably benign Het
Shroom3 A G 5: 92,940,389 R158G probably benign Het
Stil T C 4: 115,041,482 L1103P probably damaging Het
Tanc2 T C 11: 105,780,133 probably benign Het
Tmc1 C T 19: 20,832,454 D255N probably benign Het
Trank1 C A 9: 111,390,712 D2172E possibly damaging Het
Tyro3 G A 2: 119,813,200 R718H probably damaging Het
Wdr66 T A 5: 123,302,698 L1106* probably null Het
Other mutations in Vamp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02541:Vamp2 APN 11 69089151 missense unknown
PIT4378001:Vamp2 UTSW 11 69089738 missense probably benign 0.02
R0048:Vamp2 UTSW 11 69089759 missense possibly damaging 0.63
R0048:Vamp2 UTSW 11 69089759 missense possibly damaging 0.63
R3945:Vamp2 UTSW 11 69089174 missense unknown
R4827:Vamp2 UTSW 11 69089811 missense probably benign 0.01
R4929:Vamp2 UTSW 11 69088662 intron probably benign
Z1176:Vamp2 UTSW 11 69089783 missense probably benign 0.22
Posted On2015-04-16