Incidental Mutation 'R0782:Vamp5'
| ID |
76682 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vamp5
|
| Ensembl Gene |
ENSMUSG00000073002 |
| Gene Name |
vesicle-associated membrane protein 5 |
| Synonyms |
Camp |
| MMRRC Submission |
038962-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.527)
|
| Stock # |
R0782 (G1)
|
| Quality Score |
157 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
72345777-72357451 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72346453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 48
(S48G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098843
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074231]
[ENSMUST00000101285]
[ENSMUST00000154098]
[ENSMUST00000206154]
|
| AlphaFold |
Q9Z2P8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074231
AA Change: S48G
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000073852
Gene: ENSMUSG00000073002
AA Change: S48G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Synaptobrevin
|
2 |
90 |
1.6e-27 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101285
AA Change: S48G
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000098843
Gene: ENSMUSG00000073002
AA Change: S48G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Synaptobrevin
|
2 |
90 |
1.5e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154098
|
| SMART Domains |
Protein: ENSMUSP00000138327
Gene: ENSMUSG00000055850
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
41 |
81 |
5.51e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206154
AA Change: S29G
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| Meta Mutation Damage Score |
0.5566 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.0%
- 20x: 93.3%
|
| Validation Efficiency |
100% (39/39) |
| 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 vesicles and cell membranes. The VAMP5 gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family and the SNARE superfamily. This VAMP family member may participate in vesicle trafficking events that are associated with myogenesis. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap23 |
C |
T |
11: 97,391,380 (GRCm39) |
P1299L |
possibly damaging |
Het |
| B3glct |
C |
T |
5: 149,650,275 (GRCm39) |
T126M |
probably damaging |
Het |
| Baz1a |
A |
T |
12: 54,941,273 (GRCm39) |
D1492E |
probably damaging |
Het |
| Cdc14a |
A |
G |
3: 116,115,785 (GRCm39) |
I259T |
probably damaging |
Het |
| Cog7 |
C |
A |
7: 121,543,020 (GRCm39) |
A464S |
possibly damaging |
Het |
| Csf2rb2 |
C |
A |
15: 78,170,951 (GRCm39) |
K368N |
probably damaging |
Het |
| Cspp1 |
T |
A |
1: 10,200,199 (GRCm39) |
|
probably benign |
Het |
| Cyp2c37 |
A |
G |
19: 39,982,269 (GRCm39) |
H90R |
probably benign |
Het |
| Dcst1 |
A |
G |
3: 89,264,807 (GRCm39) |
F314L |
possibly damaging |
Het |
| Dhx36 |
A |
T |
3: 62,414,135 (GRCm39) |
|
probably benign |
Het |
| Efr3b |
G |
A |
12: 4,034,686 (GRCm39) |
|
probably benign |
Het |
| Faap100 |
A |
G |
11: 120,267,530 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
A |
G |
1: 150,629,416 (GRCm39) |
I947T |
possibly damaging |
Het |
| Ilkap |
C |
T |
1: 91,306,272 (GRCm39) |
R103H |
probably damaging |
Het |
| Impa1 |
A |
T |
3: 10,387,956 (GRCm39) |
|
probably benign |
Het |
| Kbtbd8 |
C |
T |
6: 95,099,213 (GRCm39) |
R164C |
probably damaging |
Het |
| Lactb2 |
T |
G |
1: 13,717,675 (GRCm39) |
N116T |
probably benign |
Het |
| Myh8 |
T |
A |
11: 67,180,580 (GRCm39) |
N605K |
probably benign |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Napa |
T |
C |
7: 15,849,192 (GRCm39) |
M244T |
probably benign |
Het |
| Nckap5 |
G |
A |
1: 125,909,278 (GRCm39) |
S1719F |
probably damaging |
Het |
| Nfe2l2 |
T |
C |
2: 75,507,177 (GRCm39) |
I308V |
probably benign |
Het |
| Or51af1 |
C |
A |
7: 103,141,722 (GRCm39) |
R121L |
probably damaging |
Het |
| Ppfia2 |
C |
T |
10: 106,763,592 (GRCm39) |
S1195L |
probably benign |
Het |
| Rasa4 |
A |
G |
5: 136,133,386 (GRCm39) |
K615R |
possibly damaging |
Het |
| Rnf216 |
T |
C |
5: 143,054,647 (GRCm39) |
K634E |
possibly damaging |
Het |
| Samd3 |
A |
G |
10: 26,146,138 (GRCm39) |
T388A |
probably damaging |
Het |
| Serping1 |
G |
A |
2: 84,597,790 (GRCm39) |
P364S |
probably damaging |
Het |
| Slc39a10 |
T |
C |
1: 46,875,156 (GRCm39) |
S49G |
probably damaging |
Het |
| Smc2 |
C |
A |
4: 52,469,799 (GRCm39) |
T762K |
probably benign |
Het |
| Smpd1 |
T |
A |
7: 105,204,550 (GRCm39) |
V143E |
possibly damaging |
Het |
| Synj2bp |
A |
T |
12: 81,579,507 (GRCm39) |
L16Q |
probably damaging |
Het |
| Tcof1 |
G |
A |
18: 60,949,352 (GRCm39) |
R1188W |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,661,740 (GRCm39) |
R1722G |
possibly damaging |
Het |
| Vps13d |
G |
A |
4: 144,853,195 (GRCm39) |
|
probably benign |
Het |
| Zfp292 |
T |
C |
4: 34,839,382 (GRCm39) |
N161S |
possibly damaging |
Het |
| Zfp831 |
A |
G |
2: 174,488,423 (GRCm39) |
T1033A |
probably benign |
Het |
|
| Other mutations in Vamp5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R2937:Vamp5
|
UTSW |
6 |
72,346,323 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2938:Vamp5
|
UTSW |
6 |
72,346,323 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4894:Vamp5
|
UTSW |
6 |
72,347,181 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6813:Vamp5
|
UTSW |
6 |
72,357,424 (GRCm39) |
unclassified |
probably benign |
|
|
R6814:Vamp5
|
UTSW |
6 |
72,357,424 (GRCm39) |
unclassified |
probably benign |
|
|
R6825:Vamp5
|
UTSW |
6 |
72,357,424 (GRCm39) |
unclassified |
probably benign |
|
|
R6853:Vamp5
|
UTSW |
6 |
72,357,424 (GRCm39) |
unclassified |
probably benign |
|
|
R6858:Vamp5
|
UTSW |
6 |
72,357,424 (GRCm39) |
unclassified |
probably benign |
|
|
R8073:Vamp5
|
UTSW |
6 |
72,357,436 (GRCm39) |
unclassified |
probably benign |
|
|
R8354:Vamp5
|
UTSW |
6 |
72,347,376 (GRCm39) |
start gained |
probably benign |
|
|
R8454:Vamp5
|
UTSW |
6 |
72,347,376 (GRCm39) |
start gained |
probably benign |
|
|
R9100:Vamp5
|
UTSW |
6 |
72,347,304 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9133:Vamp5
|
UTSW |
6 |
72,357,362 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9640:Vamp5
|
UTSW |
6 |
72,347,276 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCCCTAAGGCATCACCTGCATC -3'
(R):5'- TGGTCACGGCCTGGTATTGCTAAG -3'
Sequencing Primer
(F):5'- TGCATCCTAGGCCTATGGTT -3'
(R):5'- AGCCAGGCTAGAATGGTTAC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation