Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310002L09Rik |
A |
T |
4: 73,868,937 (GRCm39) |
|
probably benign |
Het |
Adamts2 |
T |
C |
11: 50,687,295 (GRCm39) |
Y1041H |
probably damaging |
Het |
Adck5 |
A |
C |
15: 76,479,816 (GRCm39) |
*568C |
probably null |
Het |
AK157302 |
T |
A |
13: 21,679,471 (GRCm39) |
|
probably benign |
Het |
Bmpr2 |
G |
T |
1: 59,852,836 (GRCm39) |
G56W |
probably damaging |
Het |
Capn11 |
A |
C |
17: 45,964,126 (GRCm39) |
I146S |
probably damaging |
Het |
Ccdc162 |
A |
T |
10: 41,456,302 (GRCm39) |
D1613E |
possibly damaging |
Het |
Ccdc167 |
T |
C |
17: 29,924,286 (GRCm39) |
E50G |
probably damaging |
Het |
Col7a1 |
C |
T |
9: 108,806,187 (GRCm39) |
|
probably benign |
Het |
Crebbp |
T |
A |
16: 3,944,370 (GRCm39) |
H556L |
probably damaging |
Het |
Dcpp1 |
T |
A |
17: 24,101,710 (GRCm39) |
I153N |
possibly damaging |
Het |
Dgke |
C |
T |
11: 88,946,212 (GRCm39) |
R196H |
probably benign |
Het |
Efr3a |
T |
A |
15: 65,722,999 (GRCm39) |
I459K |
probably benign |
Het |
Espl1 |
T |
A |
15: 102,228,271 (GRCm39) |
C1682S |
probably benign |
Het |
Exosc3 |
C |
T |
4: 45,317,747 (GRCm39) |
R185H |
probably damaging |
Het |
Fgd6 |
T |
C |
10: 93,879,338 (GRCm39) |
V64A |
possibly damaging |
Het |
Fhip2b |
G |
A |
14: 70,822,813 (GRCm39) |
R688C |
probably damaging |
Het |
Gata3 |
A |
G |
2: 9,882,276 (GRCm39) |
L42P |
probably damaging |
Het |
Ggta1 |
C |
A |
2: 35,292,462 (GRCm39) |
E282* |
probably null |
Het |
Ghr |
T |
C |
15: 3,349,669 (GRCm39) |
D503G |
probably damaging |
Het |
Gls |
C |
T |
1: 52,207,558 (GRCm39) |
G602D |
probably damaging |
Het |
Gm2058 |
A |
G |
7: 39,238,658 (GRCm39) |
|
noncoding transcript |
Het |
Grb7 |
T |
C |
11: 98,343,100 (GRCm39) |
|
probably benign |
Het |
Ifngr1 |
A |
T |
10: 19,485,348 (GRCm39) |
H449L |
probably damaging |
Het |
Ighg2b |
T |
G |
12: 113,270,656 (GRCm39) |
D158A |
possibly damaging |
Het |
Nphs2 |
T |
C |
1: 156,138,605 (GRCm39) |
V83A |
probably benign |
Het |
Parp6 |
T |
A |
9: 59,543,996 (GRCm39) |
M390K |
possibly damaging |
Het |
Pask |
T |
C |
1: 93,238,574 (GRCm39) |
K1304E |
probably benign |
Het |
Scai |
A |
G |
2: 38,996,973 (GRCm39) |
S274P |
probably benign |
Het |
Sik2 |
A |
G |
9: 50,818,763 (GRCm39) |
S404P |
probably damaging |
Het |
Slc7a8 |
A |
T |
14: 55,018,645 (GRCm39) |
I47N |
probably damaging |
Het |
Tas2r113 |
A |
T |
6: 132,870,760 (GRCm39) |
I263F |
probably benign |
Het |
Tdrd1 |
T |
A |
19: 56,843,734 (GRCm39) |
D737E |
probably benign |
Het |
Trio |
T |
C |
15: 27,732,954 (GRCm39) |
T2976A |
possibly damaging |
Het |
Ttc28 |
T |
C |
5: 111,233,037 (GRCm39) |
|
probably null |
Het |
Vmn1r21 |
A |
G |
6: 57,820,799 (GRCm39) |
I215T |
probably benign |
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 |
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 |
R4015:Col5a2
|
UTSW |
1 |
45,442,631 (GRCm39) |
missense |
probably benign |
0.14 |
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 |
|