Other mutations in this stock |
Total: 99 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
G |
A |
16: 20,184,701 (GRCm39) |
P986L |
probably damaging |
Het |
Acad10 |
A |
T |
5: 121,769,456 (GRCm39) |
Y667N |
possibly damaging |
Het |
Ahi1 |
G |
A |
10: 20,839,014 (GRCm39) |
G121D |
probably benign |
Het |
Ampd1 |
T |
A |
3: 103,006,442 (GRCm39) |
I690N |
possibly damaging |
Het |
Amy1 |
C |
A |
3: 113,351,814 (GRCm39) |
W425L |
possibly damaging |
Het |
Arhgap27 |
A |
T |
11: 103,223,831 (GRCm39) |
V823E |
probably damaging |
Het |
Arhgef17 |
A |
G |
7: 100,579,077 (GRCm39) |
S624P |
probably damaging |
Het |
Arid5b |
T |
C |
10: 68,021,897 (GRCm39) |
H231R |
probably damaging |
Het |
Aspscr1 |
C |
A |
11: 120,579,386 (GRCm39) |
T78N |
probably damaging |
Het |
Auts2 |
T |
A |
5: 131,501,288 (GRCm39) |
T42S |
probably damaging |
Het |
Ccdc171 |
A |
G |
4: 83,473,045 (GRCm39) |
D158G |
probably damaging |
Het |
Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
Cfap61 |
T |
C |
2: 145,781,913 (GRCm39) |
|
probably null |
Het |
Chrna5 |
T |
C |
9: 54,911,935 (GRCm39) |
V245A |
possibly damaging |
Het |
Cntnap5c |
G |
A |
17: 58,320,916 (GRCm39) |
G163R |
probably damaging |
Het |
Comp |
A |
G |
8: 70,829,796 (GRCm39) |
D340G |
probably benign |
Het |
Cyfip1 |
T |
A |
7: 55,576,143 (GRCm39) |
D1104E |
probably damaging |
Het |
Dnah11 |
A |
T |
12: 118,002,515 (GRCm39) |
S308T |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,270,572 (GRCm39) |
H958R |
probably benign |
Het |
Elp3 |
A |
G |
14: 65,785,368 (GRCm39) |
Y478H |
probably damaging |
Het |
Fam237b |
A |
T |
5: 5,625,652 (GRCm39) |
Q116L |
possibly damaging |
Het |
Fat3 |
T |
C |
9: 16,288,281 (GRCm39) |
Y414C |
probably benign |
Het |
Fbxo10 |
C |
A |
4: 45,046,389 (GRCm39) |
A574S |
probably damaging |
Het |
Fsip2 |
G |
T |
2: 82,807,906 (GRCm39) |
L1408F |
probably benign |
Het |
Fubp3 |
T |
C |
2: 31,501,747 (GRCm39) |
V425A |
possibly damaging |
Het |
Gm7168 |
A |
T |
17: 14,169,846 (GRCm39) |
R404S |
probably benign |
Het |
Gpd1 |
T |
G |
15: 99,621,083 (GRCm39) |
F299C |
probably damaging |
Het |
Gpr137 |
C |
T |
19: 6,919,425 (GRCm39) |
|
probably benign |
Het |
Grin3b |
T |
C |
10: 79,809,242 (GRCm39) |
S331P |
probably benign |
Het |
Grk3 |
T |
A |
5: 113,089,584 (GRCm39) |
I281F |
probably damaging |
Het |
Hoxb7 |
T |
A |
11: 96,177,607 (GRCm39) |
S18R |
probably damaging |
Het |
Igf1r |
C |
T |
7: 67,864,681 (GRCm39) |
R1160* |
probably null |
Het |
Itfg1 |
A |
G |
8: 86,452,141 (GRCm39) |
|
probably null |
Het |
Itgb8 |
T |
C |
12: 119,166,190 (GRCm39) |
I114V |
probably benign |
Het |
Kcnk1 |
A |
G |
8: 126,752,123 (GRCm39) |
E243G |
possibly damaging |
Het |
Kif27 |
A |
G |
13: 58,491,822 (GRCm39) |
L439P |
probably damaging |
Het |
Kif2c |
T |
A |
4: 117,024,558 (GRCm39) |
Q279L |
probably benign |
Het |
Kmt2d |
A |
T |
15: 98,749,955 (GRCm39) |
|
probably benign |
Het |
L3mbtl1 |
A |
G |
2: 162,816,422 (GRCm39) |
T821A |
probably benign |
Het |
Lrrc24 |
A |
T |
15: 76,606,778 (GRCm39) |
M206K |
probably benign |
Het |
Mamdc4 |
T |
G |
2: 25,457,634 (GRCm39) |
K460Q |
possibly damaging |
Het |
Maml2 |
C |
G |
9: 13,608,641 (GRCm39) |
L30V |
probably damaging |
Het |
Mc5r |
C |
G |
18: 68,471,741 (GRCm39) |
|
probably null |
Het |
Myo10 |
T |
G |
15: 25,726,611 (GRCm39) |
|
probably null |
Het |
Myo1e |
T |
A |
9: 70,246,066 (GRCm39) |
L419Q |
probably damaging |
Het |
Myo6 |
C |
A |
9: 80,207,854 (GRCm39) |
H1115Q |
probably damaging |
Het |
Myo7a |
A |
G |
7: 97,756,302 (GRCm39) |
V10A |
probably damaging |
Het |
Myoz2 |
C |
T |
3: 122,819,776 (GRCm39) |
R61H |
probably damaging |
Het |
Ncdn |
G |
A |
4: 126,645,796 (GRCm39) |
R38C |
probably damaging |
Het |
Nckap1 |
T |
A |
2: 80,350,900 (GRCm39) |
T736S |
probably benign |
Het |
Ncor2 |
G |
A |
5: 125,096,954 (GRCm39) |
A2325V |
probably damaging |
Het |
Nid2 |
T |
A |
14: 19,802,499 (GRCm39) |
V140E |
possibly damaging |
Het |
Nlrp9c |
C |
A |
7: 26,079,915 (GRCm39) |
D704Y |
probably benign |
Het |
Notch3 |
T |
A |
17: 32,377,699 (GRCm39) |
S126C |
probably damaging |
Het |
Or2g7 |
T |
C |
17: 38,378,839 (GRCm39) |
I259T |
probably damaging |
Het |
Or5p60 |
A |
G |
7: 107,724,122 (GRCm39) |
F116S |
probably benign |
Het |
Or5w10 |
A |
T |
2: 87,375,327 (GRCm39) |
L187H |
probably damaging |
Het |
Or6c219 |
A |
T |
10: 129,781,451 (GRCm39) |
L160* |
probably null |
Het |
Or6c6c |
T |
C |
10: 129,541,476 (GRCm39) |
M243T |
possibly damaging |
Het |
Or6d15 |
A |
C |
6: 116,559,658 (GRCm39) |
F83C |
probably damaging |
Het |
Pdzd7 |
A |
G |
19: 45,027,667 (GRCm39) |
I269T |
probably damaging |
Het |
Phf3 |
A |
T |
1: 30,845,287 (GRCm39) |
D1299E |
probably damaging |
Het |
Pitx2 |
T |
A |
3: 129,012,403 (GRCm39) |
Y271N |
probably damaging |
Het |
Polk |
T |
C |
13: 96,633,140 (GRCm39) |
E301G |
probably damaging |
Het |
Prkdc |
C |
A |
16: 15,557,388 (GRCm39) |
N2230K |
probably damaging |
Het |
Prlr |
A |
G |
15: 10,322,622 (GRCm39) |
E170G |
probably benign |
Het |
Prss55 |
A |
G |
14: 64,313,179 (GRCm39) |
I235T |
probably damaging |
Het |
Psd3 |
T |
C |
8: 68,413,217 (GRCm39) |
I724V |
probably benign |
Het |
Rabep2 |
A |
G |
7: 126,037,971 (GRCm39) |
T248A |
possibly damaging |
Het |
Rbm26 |
T |
A |
14: 105,354,509 (GRCm39) |
K949N |
probably benign |
Het |
Rnf213 |
T |
A |
11: 119,331,047 (GRCm39) |
D2085E |
probably damaging |
Het |
Serpinb7 |
A |
T |
1: 107,378,003 (GRCm39) |
H232L |
possibly damaging |
Het |
Slu7 |
A |
G |
11: 43,336,069 (GRCm39) |
Q484R |
probably benign |
Het |
Smg1 |
A |
G |
7: 117,745,021 (GRCm39) |
S3044P |
possibly damaging |
Het |
Snrnp48 |
A |
G |
13: 38,405,336 (GRCm39) |
D248G |
possibly damaging |
Het |
Snrpc |
C |
A |
17: 28,064,193 (GRCm39) |
P66Q |
unknown |
Het |
Snrpn |
T |
A |
7: 59,633,207 (GRCm39) |
|
probably benign |
Het |
Spag17 |
T |
A |
3: 99,846,672 (GRCm39) |
S65R |
possibly damaging |
Het |
Srsf6 |
C |
A |
2: 162,776,408 (GRCm39) |
|
probably benign |
Het |
Stil |
T |
A |
4: 114,898,979 (GRCm39) |
M1203K |
probably benign |
Het |
Syt17 |
T |
C |
7: 118,036,061 (GRCm39) |
T106A |
probably benign |
Het |
Tbx15 |
C |
T |
3: 99,259,562 (GRCm39) |
Q478* |
probably null |
Het |
Tg |
A |
T |
15: 66,609,397 (GRCm39) |
Q319L |
probably benign |
Het |
Thada |
A |
G |
17: 84,755,461 (GRCm39) |
L243P |
probably damaging |
Het |
Thada |
G |
T |
17: 84,755,462 (GRCm39) |
L243I |
probably damaging |
Het |
Tnnt3 |
A |
G |
7: 142,066,101 (GRCm39) |
R211G |
probably damaging |
Het |
Togaram1 |
A |
T |
12: 65,049,409 (GRCm39) |
Q1282L |
possibly damaging |
Het |
Tpm3-rs7 |
T |
G |
14: 113,552,379 (GRCm39) |
M91R |
probably damaging |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Ttll7 |
T |
G |
3: 146,621,535 (GRCm39) |
L378R |
probably damaging |
Het |
Tyw1 |
T |
G |
5: 130,287,834 (GRCm39) |
I22R |
probably damaging |
Het |
Ubr3 |
T |
C |
2: 69,846,711 (GRCm39) |
S1645P |
possibly damaging |
Het |
Ubr4 |
T |
C |
4: 139,120,364 (GRCm39) |
L263P |
probably damaging |
Het |
Unc13c |
T |
C |
9: 73,663,621 (GRCm39) |
E1071G |
possibly damaging |
Het |
Vmn2r44 |
G |
T |
7: 8,383,122 (GRCm39) |
D157E |
possibly damaging |
Het |
Vps16 |
C |
T |
2: 130,285,520 (GRCm39) |
T821I |
probably benign |
Het |
Washc4 |
T |
C |
10: 83,415,389 (GRCm39) |
V793A |
possibly damaging |
Het |
Wdr35 |
G |
T |
12: 9,027,435 (GRCm39) |
|
probably null |
Het |
Zfp277 |
A |
G |
12: 40,414,084 (GRCm39) |
F254L |
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 |
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 |
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 |
|