Incidental Mutation 'D4043:Sv2c'
| ID |
248 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sv2c
|
| Ensembl Gene |
ENSMUSG00000051111 |
| Gene Name |
synaptic vesicle glycoprotein 2c |
| Synonyms |
4930527L09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
D4043 (G3)
of strain
483
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
96091102-96269085 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 96224989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 107
(V107M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138317
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161263]
[ENSMUST00000182289]
|
| AlphaFold |
Q69ZS6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161263
AA Change: V107M
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000124473
Gene: ENSMUSG00000051111
AA Change: V107M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
61 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
117 |
428 |
9.1e-31 |
PFAM |
|
Pfam:MFS_1
|
154 |
470 |
5e-27 |
PFAM |
|
Pfam:Pentapeptide_4
|
496 |
573 |
4.8e-12 |
PFAM |
|
Pfam:MFS_1
|
564 |
725 |
1.5e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182289
AA Change: V107M
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000138317
Gene: ENSMUSG00000051111
AA Change: V107M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
61 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
119 |
427 |
2.2e-30 |
PFAM |
|
Pfam:MFS_1
|
154 |
470 |
5e-27 |
PFAM |
|
Pfam:Pentapeptide_4
|
496 |
571 |
6.2e-15 |
PFAM |
|
transmembrane domain
|
581 |
603 |
N/A |
INTRINSIC |
|
transmembrane domain
|
610 |
632 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0864 |
| Coding Region Coverage |
|
| Validation Efficiency |
88% (220/249) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypoactivity and increased anxiety-related response. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted, other(2) Gene trapped(1) |
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
A |
T |
8: 56,325,496 (GRCm39) |
C319* |
probably null |
Het |
| Adgrg1 |
T |
C |
8: 95,731,857 (GRCm39) |
|
probably null |
Homo |
| Ago3 |
A |
T |
4: 126,244,796 (GRCm39) |
V630E |
probably damaging |
Het |
| Armc8 |
G |
T |
9: 99,366,029 (GRCm39) |
N628K |
probably benign |
Het |
| Cfap96 |
A |
G |
8: 46,409,440 (GRCm39) |
V293A |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,862,650 (GRCm39) |
D2579G |
probably damaging |
Het |
| Duox1 |
G |
A |
2: 122,175,276 (GRCm39) |
C1358Y |
probably benign |
Het |
| Ftsj3 |
C |
A |
11: 106,145,634 (GRCm39) |
M66I |
possibly damaging |
Homo |
| Iqub |
C |
T |
6: 24,505,750 (GRCm39) |
E53K |
possibly damaging |
Het |
| Kirrel1 |
T |
A |
3: 86,990,510 (GRCm39) |
T771S |
probably benign |
Het |
| Lrrc66 |
A |
T |
5: 73,764,869 (GRCm39) |
S725T |
probably benign |
Het |
| Mael |
T |
C |
1: 166,064,455 (GRCm39) |
I104M |
probably benign |
Homo |
| Mkks |
C |
T |
2: 136,716,530 (GRCm39) |
V457I |
probably benign |
Het |
| Nadk2 |
T |
A |
15: 9,103,473 (GRCm39) |
|
probably benign |
Homo |
| Npas1 |
T |
C |
7: 16,197,169 (GRCm39) |
|
probably null |
Het |
| Ocrl |
T |
C |
X: 47,025,200 (GRCm39) |
V359A |
probably benign |
Homo |
| Or8k27 |
G |
A |
2: 86,275,564 (GRCm39) |
T254M |
probably damaging |
Het |
| Pde6b |
C |
T |
5: 108,573,222 (GRCm39) |
R531* |
probably null |
Het |
| Polr1a |
G |
A |
6: 71,918,401 (GRCm39) |
C653Y |
possibly damaging |
Het |
| Rbm26 |
A |
G |
14: 105,389,976 (GRCm39) |
V216A |
possibly damaging |
Het |
| Rin2 |
C |
A |
2: 145,664,283 (GRCm39) |
H52Q |
possibly damaging |
Het |
| Ssc5d |
C |
T |
7: 4,946,982 (GRCm39) |
T1112I |
possibly damaging |
Het |
| Tasor |
A |
G |
14: 27,193,949 (GRCm39) |
I1050V |
probably benign |
Het |
| Tulp3 |
G |
A |
6: 128,301,113 (GRCm39) |
S366L |
probably benign |
Het |
| Zfp831 |
T |
A |
2: 174,487,059 (GRCm39) |
V578E |
probably benign |
Homo |
|
| Other mutations in Sv2c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00309:Sv2c
|
APN |
13 |
96,184,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01313:Sv2c
|
APN |
13 |
96,224,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02710:Sv2c
|
APN |
13 |
96,125,649 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02990:Sv2c
|
APN |
13 |
96,224,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03145:Sv2c
|
APN |
13 |
96,125,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0390:Sv2c
|
UTSW |
13 |
96,225,216 (GRCm39) |
missense |
probably benign |
|
|
R0849:Sv2c
|
UTSW |
13 |
96,126,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0907:Sv2c
|
UTSW |
13 |
96,224,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1177:Sv2c
|
UTSW |
13 |
96,126,271 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1840:Sv2c
|
UTSW |
13 |
96,118,352 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1865:Sv2c
|
UTSW |
13 |
96,113,283 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1959:Sv2c
|
UTSW |
13 |
96,113,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2440:Sv2c
|
UTSW |
13 |
96,185,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4007:Sv2c
|
UTSW |
13 |
96,123,341 (GRCm39) |
splice site |
probably benign |
|
|
R4197:Sv2c
|
UTSW |
13 |
96,114,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4697:Sv2c
|
UTSW |
13 |
96,122,526 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4719:Sv2c
|
UTSW |
13 |
96,123,319 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4822:Sv2c
|
UTSW |
13 |
96,122,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5237:Sv2c
|
UTSW |
13 |
96,118,391 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5452:Sv2c
|
UTSW |
13 |
96,114,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5531:Sv2c
|
UTSW |
13 |
96,097,886 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5756:Sv2c
|
UTSW |
13 |
96,122,475 (GRCm39) |
missense |
probably benign |
|
|
R5982:Sv2c
|
UTSW |
13 |
96,112,571 (GRCm39) |
nonsense |
probably null |
|
|
R6220:Sv2c
|
UTSW |
13 |
96,113,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6511:Sv2c
|
UTSW |
13 |
96,185,033 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6520:Sv2c
|
UTSW |
13 |
96,123,229 (GRCm39) |
missense |
probably benign |
|
|
R7001:Sv2c
|
UTSW |
13 |
96,118,461 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7073:Sv2c
|
UTSW |
13 |
96,224,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7116:Sv2c
|
UTSW |
13 |
96,113,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7261:Sv2c
|
UTSW |
13 |
96,224,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7374:Sv2c
|
UTSW |
13 |
96,125,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7423:Sv2c
|
UTSW |
13 |
96,185,056 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7626:Sv2c
|
UTSW |
13 |
96,122,451 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7727:Sv2c
|
UTSW |
13 |
96,113,203 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7767:Sv2c
|
UTSW |
13 |
96,126,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7818:Sv2c
|
UTSW |
13 |
96,123,328 (GRCm39) |
nonsense |
probably null |
|
|
R7831:Sv2c
|
UTSW |
13 |
96,113,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7991:Sv2c
|
UTSW |
13 |
96,224,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8137:Sv2c
|
UTSW |
13 |
96,225,171 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8254:Sv2c
|
UTSW |
13 |
96,225,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9192:Sv2c
|
UTSW |
13 |
96,224,755 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9203:Sv2c
|
UTSW |
13 |
96,224,745 (GRCm39) |
nonsense |
probably null |
|
|
R9278:Sv2c
|
UTSW |
13 |
96,112,589 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9547:Sv2c
|
UTSW |
13 |
96,185,008 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9585:Sv2c
|
UTSW |
13 |
96,122,466 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Sv2c
|
UTSW |
13 |
96,112,605 (GRCm39) |
missense |
probably benign |
|
|
| Nature of Mutation |
 DNA sequencing using the SOLiD technique identified a G to A transition at position 550 of the Sv2c transcript in exon 2 of 13 total exons. Multiple transcripts of the Sv2c gene are displayed on Ensembl and Vega. The mutated nucleotide causes a valine to methionine substitution at amino acid 107 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
| Protein Function and Prediction |
The Sv2c gene encodes a 727 amino acid synaptic vesicle glycoprotein that plays a role in the control of regulated secretion in neural and insulin-secreting cells. SV2C positively regulates vesicle fusion by maintaining the readily releasable pool of secretory vesicles. SV2C contains twelve membrane-spanning domains. It is the receptor for the botulinium neurotoxin type A/BOTA and binds to this toxin at amino acids 529-566 (Uniprot Q69ZS6).
The V107M change occurs in the cytoplasmic N-terminus, and is predicted to be benign by the PolyPhen program. |
| Posted On |
2010-08-09 |
Incidental Mutation