Incidental Mutation 'R7116:Sv2c'
| ID |
551794 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sv2c
|
| Ensembl Gene |
ENSMUSG00000051111 |
| Gene Name |
synaptic vesicle glycoprotein 2c |
| Synonyms |
4930527L09Rik |
| MMRRC Submission |
045207-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R7116 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
96091102-96269085 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 96113152 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 599
(V599E)
|
| 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: V599E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124473
Gene: ENSMUSG00000051111
AA Change: V599E
| 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: V599E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138317
Gene: ENSMUSG00000051111
AA Change: V599E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
A |
G |
12: 80,251,751 (GRCm39) |
S109P |
probably damaging |
Het |
| Afg3l1 |
T |
G |
8: 124,216,601 (GRCm39) |
L280R |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,369,943 (GRCm39) |
S129T |
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,622,869 (GRCm39) |
S328P |
probably damaging |
Het |
| Aox3 |
A |
T |
1: 58,192,689 (GRCm39) |
E554D |
probably benign |
Het |
| Bcl11a |
T |
C |
11: 24,113,839 (GRCm39) |
V394A |
probably damaging |
Het |
| Cass4 |
A |
G |
2: 172,269,889 (GRCm39) |
Y657C |
unknown |
Het |
| Ccdc88a |
C |
T |
11: 29,454,051 (GRCm39) |
A1738V |
probably benign |
Het |
| Cfap74 |
T |
C |
4: 155,539,518 (GRCm39) |
F948L |
unknown |
Het |
| Chgb |
A |
T |
2: 132,623,237 (GRCm39) |
|
probably benign |
Het |
| Coro1c |
C |
T |
5: 113,990,267 (GRCm39) |
W138* |
probably null |
Het |
| Dgkb |
A |
G |
12: 38,031,989 (GRCm39) |
Q17R |
probably benign |
Het |
| Esco2 |
A |
G |
14: 66,064,006 (GRCm39) |
Y393H |
probably damaging |
Het |
| Eya3 |
T |
A |
4: 132,422,110 (GRCm39) |
D228E |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,173,162 (GRCm39) |
D2517G |
probably damaging |
Het |
| Fry |
T |
A |
5: 150,319,334 (GRCm39) |
|
probably null |
Het |
| Gal3st2b |
A |
T |
1: 93,868,498 (GRCm39) |
Q243L |
possibly damaging |
Het |
| Gimap9 |
C |
T |
6: 48,654,989 (GRCm39) |
A192V |
probably benign |
Het |
| Glg1 |
T |
A |
8: 111,905,589 (GRCm39) |
Q564L |
probably benign |
Het |
| H2-Aa |
A |
T |
17: 34,502,601 (GRCm39) |
Y188* |
probably null |
Het |
| Hira |
T |
C |
16: 18,730,864 (GRCm39) |
Y188H |
probably damaging |
Het |
| Ighv8-8 |
C |
T |
12: 115,257,814 (GRCm39) |
D76N |
probably benign |
Het |
| Irf6 |
T |
C |
1: 192,849,905 (GRCm39) |
F276L |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,458,229 (GRCm39) |
C2000R |
probably damaging |
Het |
| Jakmip3 |
T |
C |
7: 138,621,979 (GRCm39) |
V293A |
possibly damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,707,614 (GRCm39) |
V132A |
probably benign |
Het |
| Kcnj1 |
A |
G |
9: 32,308,277 (GRCm39) |
T234A |
possibly damaging |
Het |
| Kpna3 |
T |
A |
14: 61,605,635 (GRCm39) |
N470I |
probably benign |
Het |
| Lamb2 |
T |
C |
9: 108,364,522 (GRCm39) |
F1121L |
probably damaging |
Het |
| Lingo1 |
T |
C |
9: 56,527,911 (GRCm39) |
D232G |
probably benign |
Het |
| Lpxn |
T |
A |
19: 12,788,622 (GRCm39) |
N70K |
probably benign |
Het |
| Ltbp4 |
T |
A |
7: 27,004,852 (GRCm39) |
H1657L |
probably damaging |
Het |
| Luzp2 |
C |
A |
7: 54,915,078 (GRCm39) |
F334L |
possibly damaging |
Het |
| Mgat5b |
A |
T |
11: 116,835,785 (GRCm39) |
S142C |
possibly damaging |
Het |
| Mroh7 |
G |
A |
4: 106,568,517 (GRCm39) |
T396I |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,417,487 (GRCm39) |
S3478P |
probably benign |
Het |
| Nfatc2 |
A |
T |
2: 168,349,269 (GRCm39) |
M626K |
probably benign |
Het |
| Nlrp14 |
A |
G |
7: 106,782,255 (GRCm39) |
D484G |
possibly damaging |
Het |
| Npc1 |
T |
C |
18: 12,344,601 (GRCm39) |
Y423C |
probably damaging |
Het |
| Nrsn1 |
A |
G |
13: 25,437,388 (GRCm39) |
I180T |
probably damaging |
Het |
| Or11g25 |
A |
T |
14: 50,723,025 (GRCm39) |
I37F |
probably benign |
Het |
| Or51a8 |
T |
A |
7: 102,549,842 (GRCm39) |
N89K |
probably benign |
Het |
| Osbpl6 |
A |
T |
2: 76,426,225 (GRCm39) |
I935F |
probably benign |
Het |
| Otog |
T |
C |
7: 45,947,689 (GRCm39) |
F96L |
probably damaging |
Het |
| Pde1b |
T |
C |
15: 103,436,745 (GRCm39) |
L534P |
possibly damaging |
Het |
| Pdzd8 |
C |
T |
19: 59,288,125 (GRCm39) |
E1092K |
probably damaging |
Het |
| Pfkl |
T |
C |
10: 77,837,249 (GRCm39) |
H108R |
probably benign |
Het |
| Pkhd1l1 |
G |
A |
15: 44,421,372 (GRCm39) |
V3047I |
probably benign |
Het |
| Plag1 |
A |
T |
4: 3,904,812 (GRCm39) |
C126* |
probably null |
Het |
| Pphln1 |
T |
A |
15: 93,353,406 (GRCm39) |
S229T |
probably benign |
Het |
| Pramel5 |
C |
T |
4: 144,000,451 (GRCm39) |
D42N |
possibly damaging |
Het |
| Psd3 |
A |
G |
8: 68,166,390 (GRCm39) |
V915A |
probably benign |
Het |
| Ptdss1 |
T |
A |
13: 67,093,391 (GRCm39) |
I77N |
probably benign |
Het |
| Rsbn1 |
T |
A |
3: 103,821,892 (GRCm39) |
C3* |
probably null |
Het |
| Shank1 |
C |
T |
7: 43,976,585 (GRCm39) |
A561V |
unknown |
Het |
| Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
| Vmn2r37 |
T |
C |
7: 9,220,898 (GRCm39) |
T322A |
probably benign |
Het |
| Vmn2r60 |
T |
A |
7: 41,786,487 (GRCm39) |
M430K |
probably benign |
Het |
| Wipf3 |
T |
A |
6: 54,458,904 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- GTCCTAACTAAAGGCCTAAGGG -3'
(R):5'- CCATGATTTTGGCTGATGCG -3'
Sequencing Primer
(F):5'- CCTAACTAAAGGCCTAAGGGATTTC -3'
(R):5'- CTTACACCTGACAAGAGCTTAATGG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation