Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb6 |
C |
T |
1: 75,151,135 (GRCm39) |
|
probably null |
Het |
Cacna1e |
T |
C |
1: 154,358,331 (GRCm39) |
D580G |
probably damaging |
Het |
Ccdc66 |
A |
G |
14: 27,205,793 (GRCm39) |
I898T |
probably damaging |
Het |
Celf3 |
T |
C |
3: 94,394,505 (GRCm39) |
V202A |
probably benign |
Het |
Cfap161 |
C |
T |
7: 83,429,479 (GRCm39) |
G180S |
probably benign |
Het |
Coq6 |
A |
G |
12: 84,413,671 (GRCm39) |
H67R |
probably benign |
Het |
Cyp2b19 |
T |
C |
7: 26,461,768 (GRCm39) |
F196S |
probably damaging |
Het |
Cyp4a14 |
G |
T |
4: 115,348,331 (GRCm39) |
P382Q |
probably damaging |
Het |
Dctpp1 |
G |
A |
7: 126,856,285 (GRCm39) |
R146C |
probably damaging |
Het |
Ddias |
T |
C |
7: 92,509,069 (GRCm39) |
K282R |
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,854,990 (GRCm39) |
Q1965R |
probably benign |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
Igf2bp2 |
T |
C |
16: 21,882,426 (GRCm39) |
N425S |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 40,692,996 (GRCm39) |
F3401L |
possibly damaging |
Het |
Mocs2 |
T |
C |
13: 114,957,334 (GRCm39) |
|
probably benign |
Het |
Muc5b |
G |
A |
7: 141,417,367 (GRCm39) |
V3438M |
probably benign |
Het |
Myo3a |
A |
G |
2: 22,468,182 (GRCm39) |
R479G |
possibly damaging |
Het |
Nalcn |
T |
G |
14: 123,723,799 (GRCm39) |
E422A |
probably damaging |
Het |
Pcdh17 |
T |
C |
14: 84,684,547 (GRCm39) |
V338A |
probably damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Rbm12b1 |
T |
C |
4: 12,145,491 (GRCm39) |
S488P |
probably benign |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Srcap |
C |
A |
7: 127,124,595 (GRCm39) |
P255Q |
probably benign |
Het |
Sult6b2 |
T |
A |
6: 142,735,988 (GRCm39) |
N202I |
possibly damaging |
Het |
Tcf7l1 |
A |
G |
6: 72,613,382 (GRCm39) |
|
probably benign |
Het |
Tef |
T |
C |
15: 81,707,806 (GRCm39) |
V261A |
probably damaging |
Het |
Trio |
C |
T |
15: 27,744,187 (GRCm39) |
V2582I |
possibly damaging |
Het |
Tyr |
A |
G |
7: 87,087,148 (GRCm39) |
S455P |
probably benign |
Het |
Uggt2 |
T |
C |
14: 119,263,845 (GRCm39) |
N1062D |
possibly damaging |
Het |
Unc13b |
G |
A |
4: 43,237,801 (GRCm39) |
G3441R |
probably damaging |
Het |
Vmn1r214 |
G |
A |
13: 23,219,520 (GRCm39) |
C338Y |
probably benign |
Het |
Wdr70 |
A |
T |
15: 8,108,698 (GRCm39) |
C149* |
probably null |
Het |
Zfp867 |
A |
G |
11: 59,354,520 (GRCm39) |
F270L |
probably damaging |
Het |
|
Other mutations in Col5a2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00567:Col5a2
|
APN |
1 |
45,432,037 (GRCm39) |
splice site |
probably benign |
|
IGL00978:Col5a2
|
APN |
1 |
45,415,899 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01366:Col5a2
|
APN |
1 |
45,431,048 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL01487:Col5a2
|
APN |
1 |
45,415,899 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01820:Col5a2
|
APN |
1 |
45,481,985 (GRCm39) |
missense |
unknown |
|
IGL01980:Col5a2
|
APN |
1 |
45,421,393 (GRCm39) |
splice site |
probably benign |
|
IGL02063:Col5a2
|
APN |
1 |
45,442,579 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02134:Col5a2
|
APN |
1 |
45,430,230 (GRCm39) |
splice site |
probably null |
|
IGL02233:Col5a2
|
APN |
1 |
45,422,747 (GRCm39) |
splice site |
probably null |
|
IGL02489:Col5a2
|
APN |
1 |
45,431,971 (GRCm39) |
splice site |
probably null |
|
IGL02928:Col5a2
|
APN |
1 |
45,424,180 (GRCm39) |
missense |
probably benign |
0.41 |
IGL02931:Col5a2
|
APN |
1 |
45,424,225 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03328:Col5a2
|
APN |
1 |
45,415,306 (GRCm39) |
missense |
possibly damaging |
0.94 |
Beatnik
|
UTSW |
1 |
45,415,938 (GRCm39) |
missense |
probably damaging |
0.99 |
R0022:Col5a2
|
UTSW |
1 |
45,422,843 (GRCm39) |
nonsense |
probably null |
|
R0123:Col5a2
|
UTSW |
1 |
45,446,195 (GRCm39) |
missense |
probably benign |
0.28 |
R0180:Col5a2
|
UTSW |
1 |
45,450,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R0225:Col5a2
|
UTSW |
1 |
45,446,195 (GRCm39) |
missense |
probably benign |
0.28 |
R0455:Col5a2
|
UTSW |
1 |
45,421,262 (GRCm39) |
splice site |
probably benign |
|
R0485:Col5a2
|
UTSW |
1 |
45,417,642 (GRCm39) |
missense |
probably damaging |
0.99 |
R0702:Col5a2
|
UTSW |
1 |
45,419,291 (GRCm39) |
missense |
possibly damaging |
0.54 |
R0745:Col5a2
|
UTSW |
1 |
45,446,387 (GRCm39) |
splice site |
probably null |
|
R1147:Col5a2
|
UTSW |
1 |
45,415,931 (GRCm39) |
missense |
probably damaging |
0.99 |
R1147:Col5a2
|
UTSW |
1 |
45,415,931 (GRCm39) |
missense |
probably damaging |
0.99 |
R1394:Col5a2
|
UTSW |
1 |
45,442,579 (GRCm39) |
critical splice donor site |
probably null |
|
R1494:Col5a2
|
UTSW |
1 |
45,542,074 (GRCm39) |
start codon destroyed |
unknown |
|
R1499:Col5a2
|
UTSW |
1 |
45,450,626 (GRCm39) |
missense |
probably benign |
0.00 |
R1733:Col5a2
|
UTSW |
1 |
45,446,192 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1789:Col5a2
|
UTSW |
1 |
45,433,936 (GRCm39) |
missense |
probably damaging |
0.98 |
R1789:Col5a2
|
UTSW |
1 |
45,417,465 (GRCm39) |
critical splice donor site |
probably null |
|
R2114:Col5a2
|
UTSW |
1 |
45,415,964 (GRCm39) |
missense |
probably damaging |
0.98 |
R2915:Col5a2
|
UTSW |
1 |
45,452,656 (GRCm39) |
missense |
probably damaging |
1.00 |
R3861:Col5a2
|
UTSW |
1 |
45,419,397 (GRCm39) |
missense |
probably damaging |
0.98 |
R4944:Col5a2
|
UTSW |
1 |
45,415,855 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4982:Col5a2
|
UTSW |
1 |
45,428,618 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5001:Col5a2
|
UTSW |
1 |
45,542,058 (GRCm39) |
missense |
unknown |
|
R5159:Col5a2
|
UTSW |
1 |
45,425,991 (GRCm39) |
critical splice donor site |
probably null |
|
R5197:Col5a2
|
UTSW |
1 |
45,432,241 (GRCm39) |
missense |
probably benign |
0.01 |
R5407:Col5a2
|
UTSW |
1 |
45,445,440 (GRCm39) |
missense |
possibly damaging |
0.54 |
R5502:Col5a2
|
UTSW |
1 |
45,419,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R5575:Col5a2
|
UTSW |
1 |
45,417,642 (GRCm39) |
missense |
probably damaging |
0.99 |
R5622:Col5a2
|
UTSW |
1 |
45,466,219 (GRCm39) |
missense |
probably benign |
|
R5643:Col5a2
|
UTSW |
1 |
45,429,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R5801:Col5a2
|
UTSW |
1 |
45,428,641 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6075:Col5a2
|
UTSW |
1 |
45,542,008 (GRCm39) |
missense |
unknown |
|
R6211:Col5a2
|
UTSW |
1 |
45,415,826 (GRCm39) |
missense |
probably damaging |
0.99 |
R6407:Col5a2
|
UTSW |
1 |
45,415,938 (GRCm39) |
missense |
probably damaging |
0.99 |
R6494:Col5a2
|
UTSW |
1 |
45,417,487 (GRCm39) |
missense |
probably damaging |
0.99 |
R6582:Col5a2
|
UTSW |
1 |
45,429,275 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6687:Col5a2
|
UTSW |
1 |
45,422,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R7007:Col5a2
|
UTSW |
1 |
45,417,609 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7062:Col5a2
|
UTSW |
1 |
45,456,785 (GRCm39) |
missense |
probably benign |
0.00 |
R7098:Col5a2
|
UTSW |
1 |
45,419,227 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7243:Col5a2
|
UTSW |
1 |
45,415,320 (GRCm39) |
missense |
probably benign |
0.39 |
R7326:Col5a2
|
UTSW |
1 |
45,482,027 (GRCm39) |
missense |
unknown |
|
R7332:Col5a2
|
UTSW |
1 |
45,419,325 (GRCm39) |
missense |
probably damaging |
1.00 |
R7642:Col5a2
|
UTSW |
1 |
45,415,248 (GRCm39) |
missense |
probably benign |
0.01 |
R7890:Col5a2
|
UTSW |
1 |
45,444,147 (GRCm39) |
splice site |
probably null |
|
R8066:Col5a2
|
UTSW |
1 |
45,452,628 (GRCm39) |
critical splice donor site |
probably null |
|
R8375:Col5a2
|
UTSW |
1 |
45,481,890 (GRCm39) |
missense |
unknown |
|
R8444:Col5a2
|
UTSW |
1 |
45,435,305 (GRCm39) |
missense |
probably benign |
0.06 |
R8506:Col5a2
|
UTSW |
1 |
45,481,944 (GRCm39) |
missense |
unknown |
|
R8686:Col5a2
|
UTSW |
1 |
45,461,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R8907:Col5a2
|
UTSW |
1 |
45,456,106 (GRCm39) |
missense |
probably benign |
0.27 |
R8932:Col5a2
|
UTSW |
1 |
45,419,306 (GRCm39) |
missense |
probably benign |
0.00 |
R8933:Col5a2
|
UTSW |
1 |
45,461,123 (GRCm39) |
missense |
|
|
R9087:Col5a2
|
UTSW |
1 |
45,481,818 (GRCm39) |
missense |
unknown |
|
R9105:Col5a2
|
UTSW |
1 |
45,419,366 (GRCm39) |
missense |
probably benign |
0.00 |
R9282:Col5a2
|
UTSW |
1 |
45,478,029 (GRCm39) |
critical splice donor site |
probably null |
|
R9457:Col5a2
|
UTSW |
1 |
45,431,973 (GRCm39) |
critical splice donor site |
probably null |
|
R9457:Col5a2
|
UTSW |
1 |
45,426,004 (GRCm39) |
missense |
probably benign |
0.00 |
R9568:Col5a2
|
UTSW |
1 |
45,430,998 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9727:Col5a2
|
UTSW |
1 |
45,415,818 (GRCm39) |
missense |
possibly damaging |
0.50 |
X0013:Col5a2
|
UTSW |
1 |
45,442,418 (GRCm39) |
critical splice donor site |
probably null |
|
Z1176:Col5a2
|
UTSW |
1 |
45,435,644 (GRCm39) |
missense |
probably benign |
0.11 |
Z1176:Col5a2
|
UTSW |
1 |
45,422,840 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Col5a2
|
UTSW |
1 |
45,415,306 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1177:Col5a2
|
UTSW |
1 |
45,442,633 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Col5a2
|
UTSW |
1 |
45,441,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|