Incidental Mutation 'R0907:Sv2c'
| ID |
83368 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sv2c
|
| Ensembl Gene |
ENSMUSG00000051111 |
| Gene Name |
synaptic vesicle glycoprotein 2c |
| Synonyms |
4930527L09Rik |
| MMRRC Submission |
039065-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R0907 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
96091102-96269085 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96224763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 182
(D182G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138317
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161263]
[ENSMUST00000182289]
|
| AlphaFold |
Q69ZS6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161263
AA Change: D182G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124473
Gene: ENSMUSG00000051111
AA Change: D182G
| 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 damaging
Transcript: ENSMUST00000182289
AA Change: D182G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138317
Gene: ENSMUSG00000051111
AA Change: D182G
| 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 |
0.5298 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (34/34) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
G |
A |
1: 156,457,429 (GRCm39) |
V225M |
probably damaging |
Het |
| Afmid |
T |
A |
11: 117,726,416 (GRCm39) |
|
probably benign |
Het |
| Ccdc191 |
G |
A |
16: 43,735,901 (GRCm39) |
V216I |
probably benign |
Het |
| Cep112 |
C |
A |
11: 108,461,258 (GRCm39) |
|
probably benign |
Het |
| Dcbld1 |
T |
C |
10: 52,137,910 (GRCm39) |
V58A |
possibly damaging |
Het |
| Dop1b |
A |
T |
16: 93,598,481 (GRCm39) |
H1882L |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,479,635 (GRCm39) |
I2894V |
probably benign |
Het |
| Focad |
T |
C |
4: 88,196,498 (GRCm39) |
|
probably null |
Het |
| Gm45713 |
G |
A |
7: 44,781,788 (GRCm39) |
T203M |
possibly damaging |
Het |
| Gstm1 |
T |
C |
3: 107,924,696 (GRCm39) |
Y28C |
probably damaging |
Het |
| Gucy1a1 |
T |
C |
3: 82,018,498 (GRCm39) |
D113G |
probably benign |
Het |
| Hat1 |
G |
T |
2: 71,250,961 (GRCm39) |
E170* |
probably null |
Het |
| Herc1 |
C |
A |
9: 66,340,710 (GRCm39) |
F1686L |
possibly damaging |
Het |
| Iffo1 |
A |
G |
6: 125,130,124 (GRCm39) |
E270G |
probably null |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lrp3 |
A |
T |
7: 34,902,718 (GRCm39) |
Y522N |
probably damaging |
Het |
| Lrp6 |
A |
T |
6: 134,484,488 (GRCm39) |
D378E |
probably damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,950,103 (GRCm39) |
N351S |
probably benign |
Het |
| Or1e16 |
A |
T |
11: 73,285,945 (GRCm39) |
L301Q |
probably damaging |
Het |
| Or9q1 |
T |
C |
19: 13,805,220 (GRCm39) |
D180G |
probably damaging |
Het |
| Pcnx3 |
T |
C |
19: 5,721,553 (GRCm39) |
K1082E |
possibly damaging |
Het |
| Pikfyve |
T |
C |
1: 65,241,989 (GRCm39) |
V243A |
possibly damaging |
Het |
| Qdpr |
G |
C |
5: 45,596,728 (GRCm39) |
I145M |
probably benign |
Het |
| Rasgrp3 |
G |
T |
17: 75,816,822 (GRCm39) |
|
probably null |
Het |
| Rd3l |
G |
T |
12: 111,946,574 (GRCm39) |
Y1* |
probably null |
Het |
| Sf3b3 |
A |
G |
8: 111,538,142 (GRCm39) |
|
probably benign |
Het |
| Smn1 |
C |
T |
13: 100,264,404 (GRCm39) |
T45I |
probably damaging |
Het |
| Sprr3 |
A |
T |
3: 92,364,316 (GRCm39) |
I176N |
probably benign |
Het |
| Tnni3k |
A |
T |
3: 154,647,316 (GRCm39) |
V397D |
probably damaging |
Het |
| Trpt1 |
G |
T |
19: 6,976,308 (GRCm39) |
G235V |
possibly damaging |
Het |
| Ttll10 |
A |
T |
4: 156,120,621 (GRCm39) |
C367* |
probably null |
Het |
| Unc5c |
A |
G |
3: 141,494,794 (GRCm39) |
Q369R |
probably damaging |
Het |
|
| 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 |
|
D4043:Sv2c
|
UTSW |
13 |
96,224,989 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0390:Sv2c
|
UTSW |
13 |
96,225,216 (GRCm39) |
missense |
probably benign |
|
|
R0849:Sv2c
|
UTSW |
13 |
96,126,319 (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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCACATAACTAGGTGGTAATGATGGC -3'
(R):5'- CCCAAAGGTGATGAGTACAAGGACC -3'
Sequencing Primer
(F):5'- ggctctcacccttcctaatac -3'
(R):5'- ACCGCAGAGAGCTAGAGTC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation