Incidental Mutation 'R4197:Sv2c'
ID |
318607 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sv2c
|
Ensembl Gene |
ENSMUSG00000051111 |
Gene Name |
synaptic vesicle glycoprotein 2c |
Synonyms |
4930527L09Rik |
MMRRC Submission |
041028-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R4197 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
96091102-96269085 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 96114636 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 517
(F517I)
|
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: F517I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124473 Gene: ENSMUSG00000051111 AA Change: F517I
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 |
noncoding transcript
Transcript: ENSMUST00000182180
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000182289
AA Change: F517I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138317 Gene: ENSMUSG00000051111 AA Change: F517I
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 |
0.3796 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (42/42) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccno |
G |
A |
13: 113,125,603 (GRCm39) |
C189Y |
probably damaging |
Het |
Cd36 |
T |
A |
5: 18,018,086 (GRCm39) |
D209V |
probably damaging |
Het |
Depdc5 |
T |
A |
5: 33,148,547 (GRCm39) |
L1561Q |
possibly damaging |
Het |
Dhx34 |
G |
T |
7: 15,937,651 (GRCm39) |
H777N |
probably damaging |
Het |
Dlat |
T |
C |
9: 50,547,826 (GRCm39) |
T610A |
probably damaging |
Het |
Efcab15 |
G |
A |
11: 103,091,966 (GRCm39) |
S94L |
probably benign |
Het |
Fip1l1 |
T |
A |
5: 74,696,397 (GRCm39) |
D19E |
probably damaging |
Het |
Gm5699 |
T |
A |
1: 31,037,726 (GRCm39) |
|
noncoding transcript |
Het |
Grin2a |
A |
C |
16: 9,579,831 (GRCm39) |
F144C |
probably damaging |
Het |
Klhl18 |
A |
T |
9: 110,259,012 (GRCm39) |
|
probably null |
Het |
Klhl31 |
T |
C |
9: 77,558,091 (GRCm39) |
V269A |
probably damaging |
Het |
Lypd10 |
A |
G |
7: 24,413,119 (GRCm39) |
D146G |
probably benign |
Het |
Mmel1 |
T |
C |
4: 154,977,761 (GRCm39) |
I594T |
probably damaging |
Het |
Myo9a |
T |
A |
9: 59,802,149 (GRCm39) |
S1913T |
probably benign |
Het |
Or6a2 |
T |
C |
7: 106,600,245 (GRCm39) |
D274G |
probably damaging |
Het |
Pcdhb14 |
A |
G |
18: 37,581,358 (GRCm39) |
K155E |
probably benign |
Het |
Pdcd10 |
A |
T |
3: 75,424,899 (GRCm39) |
N189K |
possibly damaging |
Het |
Pde3b |
T |
G |
7: 114,130,107 (GRCm39) |
|
probably benign |
Het |
Plxnb2 |
T |
C |
15: 89,041,221 (GRCm39) |
N1775S |
probably damaging |
Het |
Polr2a |
T |
C |
11: 69,626,162 (GRCm39) |
S1625G |
unknown |
Het |
Ptpn21 |
G |
T |
12: 98,646,397 (GRCm39) |
H1020Q |
probably damaging |
Het |
Rad23b |
C |
T |
4: 55,385,455 (GRCm39) |
P331S |
probably damaging |
Het |
Scel |
A |
T |
14: 103,836,836 (GRCm39) |
N475Y |
probably damaging |
Het |
Sema5a |
A |
G |
15: 32,619,064 (GRCm39) |
T531A |
probably benign |
Het |
Sf3b3 |
A |
T |
8: 111,548,197 (GRCm39) |
L679Q |
probably damaging |
Het |
Sipa1l3 |
A |
T |
7: 29,100,238 (GRCm39) |
D10E |
possibly damaging |
Het |
Slc44a4 |
G |
A |
17: 35,137,228 (GRCm39) |
V84I |
probably benign |
Het |
Slco5a1 |
G |
T |
1: 12,964,740 (GRCm39) |
S512R |
probably damaging |
Het |
Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
Tnfsf11 |
A |
T |
14: 78,521,752 (GRCm39) |
D152E |
probably benign |
Het |
Trav13n-4 |
C |
T |
14: 53,601,378 (GRCm39) |
T49I |
probably benign |
Het |
Ttn |
T |
C |
2: 76,716,422 (GRCm39) |
|
probably benign |
Het |
Usp34 |
T |
C |
11: 23,394,189 (GRCm39) |
S2261P |
probably damaging |
Het |
Vmn2r87 |
G |
A |
10: 130,315,779 (GRCm39) |
P96S |
possibly damaging |
Het |
Xrcc6 |
A |
G |
15: 81,913,425 (GRCm39) |
M353V |
probably benign |
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 |
|
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'- TTGCCAAGCAAGCCTTTTGG -3'
(R):5'- AGCTCTCAAGACCCTTTGCC -3'
Sequencing Primer
(F):5'- GGCTCACTGTCACATGAGTATGAC -3'
(R):5'- CCCAGGATGCCCTTTATAACTTAAAG -3'
|
Posted On |
2015-06-10 |