Incidental Mutation 'R3945:Vamp2'
| ID |
307661 |
| 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 |
040926-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.469)
|
| Stock # |
R3945 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
68979354-68983207 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 68980000 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 24
(P24Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021273]
[ENSMUST00000117780]
|
| AlphaFold |
P63044 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000021273
AA Change: P24Q
|
| SMART Domains |
Protein: ENSMUSP00000021273
Gene: ENSMUSG00000020894
AA Change: P24Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
24 |
N/A |
INTRINSIC |
|
Pfam:Synaptobrevin
|
28 |
116 |
3.7e-39 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000117780
AA Change: P24Q
|
| SMART Domains |
Protein: ENSMUSP00000112611
Gene: ENSMUSG00000020894
AA Change: P24Q
| 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 |
0.0589 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (54/54) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
T |
C |
15: 81,949,601 (GRCm39) |
L1166P |
probably damaging |
Het |
| Actn4 |
T |
C |
7: 28,611,661 (GRCm39) |
|
probably null |
Het |
| Adamts17 |
A |
T |
7: 66,770,687 (GRCm39) |
E905V |
probably benign |
Het |
| Adck5 |
A |
G |
15: 76,479,400 (GRCm39) |
N485S |
probably damaging |
Het |
| Agr3 |
C |
A |
12: 35,997,512 (GRCm39) |
|
probably benign |
Het |
| Ankrd12 |
G |
A |
17: 66,283,098 (GRCm39) |
T1921I |
probably damaging |
Het |
| Ascl2 |
T |
C |
7: 142,521,708 (GRCm39) |
S247G |
probably benign |
Het |
| Atp7b |
T |
C |
8: 22,510,880 (GRCm39) |
E422G |
probably benign |
Het |
| Bltp2 |
T |
C |
11: 78,180,790 (GRCm39) |
I2229T |
probably damaging |
Het |
| C630050I24Rik |
C |
T |
8: 107,845,894 (GRCm39) |
R15* |
probably null |
Het |
| Cabin1 |
T |
G |
10: 75,581,093 (GRCm39) |
Q411P |
probably damaging |
Het |
| Chrne |
T |
C |
11: 70,507,869 (GRCm39) |
I277V |
possibly damaging |
Het |
| Coch |
A |
G |
12: 51,648,595 (GRCm39) |
|
probably null |
Het |
| Corin |
A |
G |
5: 72,515,767 (GRCm39) |
V429A |
probably damaging |
Het |
| Cpa3 |
A |
T |
3: 20,279,281 (GRCm39) |
N219K |
probably damaging |
Het |
| Creb3l1 |
T |
C |
2: 91,821,556 (GRCm39) |
E273G |
probably damaging |
Het |
| Csmd1 |
A |
C |
8: 15,960,619 (GRCm39) |
|
probably null |
Het |
| Ddx59 |
A |
G |
1: 136,362,356 (GRCm39) |
D527G |
probably damaging |
Het |
| Defa25 |
G |
A |
8: 21,574,506 (GRCm39) |
V17I |
probably null |
Het |
| Efs |
A |
G |
14: 55,158,108 (GRCm39) |
|
probably benign |
Het |
| Ern2 |
A |
G |
7: 121,775,753 (GRCm39) |
M447T |
probably benign |
Het |
| Fgfr2 |
C |
T |
7: 129,779,485 (GRCm39) |
E596K |
possibly damaging |
Het |
| Filip1 |
T |
C |
9: 79,725,649 (GRCm39) |
K990R |
probably benign |
Het |
| Ipo8 |
T |
A |
6: 148,719,615 (GRCm39) |
Q110L |
probably damaging |
Het |
| Kank4 |
T |
A |
4: 98,659,517 (GRCm39) |
I854F |
probably damaging |
Het |
| Mst1 |
G |
A |
9: 107,962,052 (GRCm39) |
C681Y |
probably damaging |
Het |
| Nr2c2 |
C |
T |
6: 92,140,119 (GRCm39) |
R464W |
probably damaging |
Het |
| Or1s2 |
A |
G |
19: 13,758,786 (GRCm39) |
E270G |
probably benign |
Het |
| Or4f4b |
C |
T |
2: 111,314,032 (GRCm39) |
Q86* |
probably null |
Het |
| Pde11a |
T |
C |
2: 75,906,275 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,522,253 (GRCm39) |
|
probably benign |
Het |
| Rcbtb1 |
G |
A |
14: 59,462,225 (GRCm39) |
|
probably null |
Het |
| Rpl37 |
G |
A |
15: 5,147,176 (GRCm39) |
R72H |
probably benign |
Het |
| Samd9l |
A |
T |
6: 3,377,029 (GRCm39) |
S77R |
possibly damaging |
Het |
| Sin3b |
A |
G |
8: 73,460,067 (GRCm39) |
D218G |
possibly damaging |
Het |
| Slc22a23 |
A |
G |
13: 34,367,109 (GRCm39) |
I633T |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,204,664 (GRCm39) |
D1321G |
unknown |
Het |
| Ssh2 |
T |
C |
11: 77,345,494 (GRCm39) |
S1160P |
possibly damaging |
Het |
| Synrg |
T |
A |
11: 83,914,232 (GRCm39) |
D952E |
probably damaging |
Het |
| Tigd3 |
A |
G |
19: 5,942,461 (GRCm39) |
F223S |
probably damaging |
Het |
| Trim66 |
G |
A |
7: 109,071,475 (GRCm39) |
T608I |
possibly damaging |
Het |
| Trmt13 |
A |
G |
3: 116,375,167 (GRCm39) |
F447S |
probably damaging |
Het |
| Trpc2 |
T |
C |
7: 101,737,486 (GRCm39) |
I800T |
possibly damaging |
Het |
| Ugt3a1 |
A |
T |
15: 9,370,184 (GRCm39) |
I443F |
possibly damaging |
Het |
| Vmn1r113 |
A |
G |
7: 20,521,637 (GRCm39) |
Y143C |
probably benign |
Het |
| Vmn1r14 |
T |
A |
6: 57,211,254 (GRCm39) |
N277K |
probably benign |
Het |
| Vmn1r181 |
T |
A |
7: 23,683,577 (GRCm39) |
V14E |
probably damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,688,352 (GRCm39) |
I3086N |
probably damaging |
Het |
| Zfp988 |
A |
C |
4: 147,417,242 (GRCm39) |
K559Q |
probably benign |
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 |
|
R0048:Vamp2
|
UTSW |
11 |
68,980,585 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
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'- TAGAGTGACTGTCTCCCATCGG -3'
(R):5'- TGCATGCTAACAGGGAGAC -3'
Sequencing Primer
(F):5'- TGGCCTTCTCGCGCAAGAG -3'
(R):5'- ATGAGGCAGGTCTCCGAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation