Incidental Mutation 'R0048:Vamp2'
| ID |
201292 |
| 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 |
038342-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.469)
|
| Stock # |
R0048 (G1)
|
| Quality Score |
60 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
68979354-68983207 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 68980585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 51
(D51G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021273]
[ENSMUST00000117780]
|
| AlphaFold |
P63044 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021273
AA Change: D51G
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000021273
Gene: ENSMUSG00000020894
AA Change: D51G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
24 |
N/A |
INTRINSIC |
|
Pfam:Synaptobrevin
|
28 |
116 |
3.7e-39 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117780
AA Change: D51G
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112611
Gene: ENSMUSG00000020894
AA Change: D51G
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
0.5043 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.3%
|
| Validation Efficiency |
100% (37/37) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
A |
G |
1: 25,140,563 (GRCm39) |
I299T |
probably benign |
Het |
| Ankrd12 |
A |
G |
17: 66,291,798 (GRCm39) |
S1212P |
probably damaging |
Het |
| Ankrd50 |
A |
G |
3: 38,537,198 (GRCm39) |
S52P |
probably benign |
Het |
| Brca1 |
A |
G |
11: 101,415,803 (GRCm39) |
V777A |
possibly damaging |
Het |
| Cblif |
G |
A |
19: 11,727,120 (GRCm39) |
V110M |
possibly damaging |
Het |
| Dppa2 |
A |
G |
16: 48,137,761 (GRCm39) |
M248V |
probably benign |
Het |
| Fat2 |
G |
T |
11: 55,200,865 (GRCm39) |
H736Q |
probably benign |
Het |
| Fgfr2 |
A |
T |
7: 129,782,218 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,318,249 (GRCm39) |
S3865P |
possibly damaging |
Het |
| Iqgap3 |
A |
T |
3: 88,023,256 (GRCm39) |
T516S |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,133,789 (GRCm39) |
|
probably null |
Het |
| Lrrfip1 |
C |
T |
1: 91,021,369 (GRCm39) |
|
probably benign |
Het |
| Mfsd12 |
G |
A |
10: 81,198,648 (GRCm39) |
V380I |
possibly damaging |
Het |
| Mroh9 |
G |
A |
1: 162,890,056 (GRCm39) |
T227M |
probably damaging |
Het |
| Mtor |
C |
T |
4: 148,623,338 (GRCm39) |
Q2063* |
probably null |
Het |
| Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
| Or13c3 |
C |
A |
4: 52,856,196 (GRCm39) |
A106S |
probably damaging |
Het |
| Ptgfr |
A |
G |
3: 151,540,728 (GRCm39) |
V260A |
possibly damaging |
Het |
| Raph1 |
T |
C |
1: 60,539,764 (GRCm39) |
K423E |
probably benign |
Het |
| Rbm27 |
A |
G |
18: 42,431,529 (GRCm39) |
D112G |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,610,670 (GRCm39) |
E4052G |
probably damaging |
Het |
| Sart3 |
G |
T |
5: 113,893,458 (GRCm39) |
D346E |
possibly damaging |
Het |
| Siglec1 |
T |
C |
2: 130,915,317 (GRCm39) |
T1425A |
possibly damaging |
Het |
| Snx25 |
A |
T |
8: 46,558,146 (GRCm39) |
|
probably benign |
Het |
| Son |
T |
A |
16: 91,455,865 (GRCm39) |
H1537Q |
possibly damaging |
Het |
| Tgfb1 |
T |
A |
7: 25,393,779 (GRCm39) |
|
probably benign |
Het |
| Umodl1 |
A |
T |
17: 31,187,451 (GRCm39) |
N172Y |
probably damaging |
Het |
| Urah |
C |
T |
7: 140,416,665 (GRCm39) |
T46I |
probably damaging |
Het |
| Usp8 |
C |
T |
2: 126,579,809 (GRCm39) |
P353L |
probably damaging |
Het |
| Vmn1r67 |
G |
A |
7: 10,180,793 (GRCm39) |
G19E |
probably damaging |
Het |
| Wdr76 |
C |
T |
2: 121,365,900 (GRCm39) |
|
probably benign |
Het |
| Wwox |
C |
A |
8: 115,166,570 (GRCm39) |
P20Q |
probably damaging |
Het |
|
| Other mutations in Vamp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
R3945:Vamp2
|
UTSW |
11 |
68,980,000 (GRCm39) |
missense |
unknown |
|
|
R4827:Vamp2
|
UTSW |
11 |
68,980,637 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4929:Vamp2
|
UTSW |
11 |
68,979,488 (GRCm39) |
intron |
probably benign |
|
|
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'- CATGACCCTGATGTGTGCTCCTTG -3'
(R):5'- GGTGAATGACACAGTGACACCCTAC -3'
Sequencing Primer
(F):5'- ATGTGTGCTCCTTGCATGTC -3'
(R):5'- AGTGACACCCTACTTCCCC -3'
|
| Posted On |
2014-05-28 |
Incidental Mutation