Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1190005I06Rik |
T |
C |
8: 121,338,005 (GRCm39) |
S69G |
possibly damaging |
Het |
Alg12 |
G |
A |
15: 88,690,910 (GRCm39) |
S337F |
probably damaging |
Het |
Bcl11a |
T |
C |
11: 24,113,985 (GRCm39) |
S443P |
probably damaging |
Het |
C1qtnf4 |
T |
C |
2: 90,719,885 (GRCm39) |
Y53H |
probably damaging |
Het |
Cacna1d |
T |
A |
14: 29,864,600 (GRCm39) |
E454V |
probably damaging |
Het |
Cacna1h |
A |
G |
17: 25,597,811 (GRCm39) |
F1761S |
probably damaging |
Het |
Cacna1i |
A |
T |
15: 80,261,023 (GRCm39) |
I1344F |
possibly damaging |
Het |
Cat |
T |
C |
2: 103,307,235 (GRCm39) |
N33D |
probably benign |
Het |
Cdh17 |
C |
T |
4: 11,783,174 (GRCm39) |
Q172* |
probably null |
Het |
Chrna2 |
A |
G |
14: 66,386,675 (GRCm39) |
I274V |
probably benign |
Het |
Cog2 |
T |
G |
8: 125,262,258 (GRCm39) |
S299A |
possibly damaging |
Het |
Cpa6 |
C |
A |
1: 10,479,524 (GRCm39) |
M236I |
probably damaging |
Het |
Crym |
T |
A |
7: 119,789,742 (GRCm39) |
Q242L |
probably benign |
Het |
Ddx60 |
T |
C |
8: 62,393,142 (GRCm39) |
|
probably null |
Het |
Eif4a3l1 |
A |
G |
6: 136,306,396 (GRCm39) |
T286A |
possibly damaging |
Het |
Epdr1 |
A |
T |
13: 19,777,458 (GRCm39) |
I180N |
possibly damaging |
Het |
Fancd2os |
G |
A |
6: 113,574,851 (GRCm39) |
L52F |
probably benign |
Het |
Fbxo16 |
C |
A |
14: 65,558,716 (GRCm39) |
R292S |
probably benign |
Het |
Fn1 |
T |
C |
1: 71,667,272 (GRCm39) |
Q820R |
probably benign |
Het |
Gm4131 |
T |
A |
14: 62,704,301 (GRCm39) |
Y140F |
possibly damaging |
Het |
Grin2a |
T |
C |
16: 9,396,986 (GRCm39) |
R1034G |
possibly damaging |
Het |
Hypk |
A |
G |
2: 121,284,805 (GRCm39) |
|
probably benign |
Het |
Ighmbp2 |
A |
G |
19: 3,314,951 (GRCm39) |
V823A |
probably benign |
Het |
Irf5 |
A |
G |
6: 29,534,039 (GRCm39) |
N95S |
probably damaging |
Het |
Kdr |
A |
T |
5: 76,125,360 (GRCm39) |
M379K |
probably benign |
Het |
Kif19a |
G |
T |
11: 114,656,281 (GRCm39) |
|
probably benign |
Het |
Klhdc4 |
T |
C |
8: 122,526,397 (GRCm39) |
|
probably null |
Het |
Lama2 |
A |
T |
10: 26,995,976 (GRCm39) |
I1717N |
probably damaging |
Het |
Lama4 |
A |
T |
10: 38,968,295 (GRCm39) |
Q1479L |
probably benign |
Het |
Lgr5 |
T |
A |
10: 115,288,410 (GRCm39) |
T745S |
probably damaging |
Het |
Lifr |
T |
A |
15: 7,196,540 (GRCm39) |
|
probably null |
Het |
Llgl1 |
C |
T |
11: 60,596,812 (GRCm39) |
R138C |
possibly damaging |
Het |
Mccc1 |
A |
T |
3: 36,044,005 (GRCm39) |
V246E |
probably damaging |
Het |
Mdn1 |
T |
A |
4: 32,725,944 (GRCm39) |
L2621H |
probably benign |
Het |
Mecr |
C |
A |
4: 131,581,089 (GRCm39) |
A80D |
probably damaging |
Het |
Mia2 |
A |
G |
12: 59,154,905 (GRCm39) |
E206G |
probably damaging |
Het |
Nubpl |
A |
G |
12: 52,179,203 (GRCm39) |
|
probably benign |
Het |
Obscn |
C |
T |
11: 59,024,053 (GRCm39) |
R539H |
probably damaging |
Het |
Or4n4b |
T |
A |
14: 50,535,879 (GRCm39) |
T296S |
probably benign |
Het |
Or8h10 |
A |
G |
2: 86,808,867 (GRCm39) |
V91A |
probably benign |
Het |
Pde5a |
A |
T |
3: 122,648,895 (GRCm39) |
K838* |
probably null |
Het |
Pgm3 |
A |
G |
9: 86,444,650 (GRCm39) |
L295P |
probably damaging |
Het |
Polr1a |
T |
A |
6: 71,897,500 (GRCm39) |
C205* |
probably null |
Het |
Rab3gap1 |
T |
A |
1: 127,855,249 (GRCm39) |
I429K |
probably benign |
Het |
Rassf8 |
T |
C |
6: 145,761,295 (GRCm39) |
V207A |
probably benign |
Het |
Sacs |
T |
A |
14: 61,451,530 (GRCm39) |
D4525E |
possibly damaging |
Het |
Sec24a |
A |
T |
11: 51,598,082 (GRCm39) |
L864Q |
probably damaging |
Het |
Spats2l |
C |
A |
1: 57,918,672 (GRCm39) |
Y35* |
probably null |
Het |
Sptlc2 |
A |
T |
12: 87,388,380 (GRCm39) |
D367E |
probably benign |
Het |
Ssc4d |
T |
C |
5: 135,996,810 (GRCm39) |
D97G |
possibly damaging |
Het |
Tjp1 |
A |
G |
7: 65,177,400 (GRCm39) |
Y3H |
possibly damaging |
Het |
Tkt |
T |
A |
14: 30,291,102 (GRCm39) |
|
probably null |
Het |
Trim60 |
T |
A |
8: 65,453,133 (GRCm39) |
N372I |
possibly damaging |
Het |
Trpm2 |
T |
C |
10: 77,759,389 (GRCm39) |
N1132D |
probably benign |
Het |
Tsc22d1 |
T |
C |
14: 76,654,154 (GRCm39) |
I211T |
probably damaging |
Het |
Ttc39b |
T |
C |
4: 83,180,088 (GRCm39) |
K132E |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,553,932 (GRCm39) |
V30924I |
probably damaging |
Het |
Tubgcp6 |
G |
A |
15: 88,987,173 (GRCm39) |
Q1267* |
probably null |
Het |
Zfp30 |
C |
A |
7: 29,492,043 (GRCm39) |
T180N |
probably benign |
Het |
Zp2 |
A |
G |
7: 119,731,614 (GRCm39) |
*714R |
probably null |
Het |
|
Other mutations in Pkp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
P0014:Pkp2
|
UTSW |
16 |
16,058,386 (GRCm39) |
missense |
probably benign |
0.08 |
R0131:Pkp2
|
UTSW |
16 |
16,058,577 (GRCm39) |
splice site |
probably benign |
|
R0581:Pkp2
|
UTSW |
16 |
16,087,647 (GRCm39) |
splice site |
probably benign |
|
R0722:Pkp2
|
UTSW |
16 |
16,064,892 (GRCm39) |
missense |
probably benign |
|
R0882:Pkp2
|
UTSW |
16 |
16,087,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R0942:Pkp2
|
UTSW |
16 |
16,043,894 (GRCm39) |
missense |
probably benign |
|
R1236:Pkp2
|
UTSW |
16 |
16,043,766 (GRCm39) |
missense |
probably benign |
|
R1265:Pkp2
|
UTSW |
16 |
16,043,168 (GRCm39) |
missense |
probably benign |
0.00 |
R1674:Pkp2
|
UTSW |
16 |
16,058,422 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1687:Pkp2
|
UTSW |
16 |
16,086,573 (GRCm39) |
critical splice donor site |
probably null |
|
R1769:Pkp2
|
UTSW |
16 |
16,080,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R2094:Pkp2
|
UTSW |
16 |
16,064,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R4360:Pkp2
|
UTSW |
16 |
16,086,546 (GRCm39) |
missense |
probably benign |
0.03 |
R4739:Pkp2
|
UTSW |
16 |
16,048,588 (GRCm39) |
missense |
probably damaging |
0.99 |
R5162:Pkp2
|
UTSW |
16 |
16,078,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R5607:Pkp2
|
UTSW |
16 |
16,078,239 (GRCm39) |
missense |
probably damaging |
0.98 |
R6334:Pkp2
|
UTSW |
16 |
16,043,933 (GRCm39) |
missense |
probably damaging |
0.99 |
R6918:Pkp2
|
UTSW |
16 |
16,090,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R7408:Pkp2
|
UTSW |
16 |
16,079,537 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7698:Pkp2
|
UTSW |
16 |
16,058,523 (GRCm39) |
missense |
probably benign |
0.01 |
R7788:Pkp2
|
UTSW |
16 |
16,043,272 (GRCm39) |
missense |
probably benign |
0.01 |
R8030:Pkp2
|
UTSW |
16 |
16,064,774 (GRCm39) |
missense |
probably benign |
|
R8056:Pkp2
|
UTSW |
16 |
16,031,264 (GRCm39) |
missense |
probably benign |
0.28 |
R8161:Pkp2
|
UTSW |
16 |
16,031,313 (GRCm39) |
missense |
probably damaging |
0.99 |
R8253:Pkp2
|
UTSW |
16 |
16,086,406 (GRCm39) |
missense |
probably damaging |
1.00 |
R8681:Pkp2
|
UTSW |
16 |
16,048,545 (GRCm39) |
missense |
probably benign |
|
R9259:Pkp2
|
UTSW |
16 |
16,043,714 (GRCm39) |
missense |
probably damaging |
1.00 |
R9570:Pkp2
|
UTSW |
16 |
16,078,278 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9720:Pkp2
|
UTSW |
16 |
16,087,584 (GRCm39) |
missense |
probably benign |
0.18 |
Z1176:Pkp2
|
UTSW |
16 |
16,048,564 (GRCm39) |
missense |
probably benign |
|
|