Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B09Rik |
A |
G |
9: 14,672,970 (GRCm39) |
S98P |
probably benign |
Het |
Abca9 |
C |
T |
11: 110,011,534 (GRCm39) |
V1170I |
probably benign |
Het |
Acacb |
A |
G |
5: 114,371,228 (GRCm39) |
T1786A |
probably damaging |
Het |
Acmsd |
T |
C |
1: 127,676,898 (GRCm39) |
I141T |
possibly damaging |
Het |
Akr1c12 |
A |
G |
13: 4,322,244 (GRCm39) |
V266A |
possibly damaging |
Het |
Arhgef18 |
A |
T |
8: 3,489,600 (GRCm39) |
I311F |
probably damaging |
Het |
Armc2 |
T |
A |
10: 41,842,738 (GRCm39) |
N355I |
possibly damaging |
Het |
Armh1 |
T |
A |
4: 117,087,184 (GRCm39) |
K160N |
probably benign |
Het |
Asic1 |
A |
T |
15: 99,592,722 (GRCm39) |
T236S |
possibly damaging |
Het |
Avl9 |
T |
A |
6: 56,718,407 (GRCm39) |
D424E |
probably damaging |
Het |
Cbfa2t2 |
A |
T |
2: 154,357,816 (GRCm39) |
Q197L |
probably damaging |
Het |
Ccdc136 |
T |
C |
6: 29,417,141 (GRCm39) |
V654A |
probably benign |
Het |
Cd177 |
C |
T |
7: 24,455,594 (GRCm39) |
W309* |
probably null |
Het |
Cplane1 |
G |
T |
15: 8,259,787 (GRCm39) |
G2383V |
probably damaging |
Het |
Cracr2a |
A |
G |
6: 127,588,386 (GRCm39) |
K182E |
probably damaging |
Het |
Dpys |
T |
C |
15: 39,691,486 (GRCm39) |
T279A |
possibly damaging |
Het |
Dsc1 |
A |
T |
18: 20,222,628 (GRCm39) |
S615T |
probably benign |
Het |
Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
Efcab14 |
A |
G |
4: 115,623,599 (GRCm39) |
Q390R |
probably benign |
Het |
Eif4ebp2 |
G |
A |
10: 61,270,825 (GRCm39) |
A68V |
probably damaging |
Het |
Fam81a |
A |
G |
9: 70,010,191 (GRCm39) |
S149P |
probably benign |
Het |
Ffar4 |
A |
G |
19: 38,095,839 (GRCm39) |
I193V |
possibly damaging |
Het |
Flvcr2 |
T |
A |
12: 85,845,312 (GRCm39) |
V377D |
probably damaging |
Het |
Fscn1 |
C |
T |
5: 142,946,756 (GRCm39) |
R185C |
possibly damaging |
Het |
Gucy1b2 |
C |
T |
14: 62,630,319 (GRCm39) |
S809N |
probably benign |
Het |
H60b |
T |
A |
10: 22,163,020 (GRCm39) |
N198K |
probably damaging |
Het |
Helz2 |
A |
T |
2: 180,879,689 (GRCm39) |
F643Y |
possibly damaging |
Het |
Kash5 |
CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC |
CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC |
7: 44,837,608 (GRCm39) |
|
probably benign |
Het |
Kif28 |
A |
G |
1: 179,526,629 (GRCm39) |
V846A |
probably benign |
Het |
Kirrel1 |
C |
A |
3: 87,005,082 (GRCm39) |
G89W |
probably damaging |
Het |
Krt42 |
G |
C |
11: 100,155,865 (GRCm39) |
R294G |
possibly damaging |
Het |
Mb21d2 |
A |
G |
16: 28,646,555 (GRCm39) |
F473S |
probably damaging |
Het |
Mcrip2 |
G |
A |
17: 26,083,306 (GRCm39) |
Q111* |
probably null |
Het |
Msh5 |
A |
G |
17: 35,248,724 (GRCm39) |
Y741H |
possibly damaging |
Het |
Myo7b |
A |
G |
18: 32,131,135 (GRCm39) |
I544T |
probably damaging |
Het |
Nav1 |
T |
C |
1: 135,464,977 (GRCm39) |
E276G |
probably damaging |
Het |
Nr2f1 |
T |
C |
13: 78,343,565 (GRCm39) |
N233S |
probably benign |
Het |
Nrip2 |
A |
T |
6: 128,383,484 (GRCm39) |
D124V |
possibly damaging |
Het |
Or5al1 |
C |
T |
2: 85,990,586 (GRCm39) |
V43I |
probably benign |
Het |
Or8k16 |
T |
A |
2: 85,520,063 (GRCm39) |
C97S |
probably damaging |
Het |
Panx2 |
G |
T |
15: 88,952,282 (GRCm39) |
A250S |
probably damaging |
Het |
Pdc |
T |
C |
1: 150,208,964 (GRCm39) |
L149P |
probably damaging |
Het |
Pex5l |
T |
A |
3: 33,008,568 (GRCm39) |
I445F |
possibly damaging |
Het |
Pigc |
T |
C |
1: 161,798,116 (GRCm39) |
F33L |
probably damaging |
Het |
Rbfox2 |
A |
G |
15: 76,969,776 (GRCm39) |
|
probably null |
Het |
Rd3l |
A |
G |
12: 111,946,584 (GRCm39) |
L64P |
possibly damaging |
Het |
Rnf220 |
A |
G |
4: 117,135,025 (GRCm39) |
Y409H |
probably damaging |
Het |
Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Sel1l2 |
T |
C |
2: 140,082,938 (GRCm39) |
T567A |
probably damaging |
Het |
Slc22a8 |
T |
C |
19: 8,587,371 (GRCm39) |
I477T |
probably damaging |
Het |
Sltm |
C |
T |
9: 70,493,261 (GRCm39) |
R753* |
probably null |
Het |
Specc1l |
T |
A |
10: 75,084,389 (GRCm39) |
M687K |
probably damaging |
Het |
Spock3 |
T |
G |
8: 63,805,232 (GRCm39) |
C338G |
probably damaging |
Het |
Ssh2 |
C |
A |
11: 77,345,332 (GRCm39) |
Q1106K |
probably benign |
Het |
Sycp2l |
A |
G |
13: 41,326,146 (GRCm39) |
M251V |
not run |
Het |
Tdrd5 |
C |
A |
1: 156,098,165 (GRCm39) |
E711* |
probably null |
Het |
Thop1 |
T |
C |
10: 80,911,450 (GRCm39) |
M112T |
possibly damaging |
Het |
Tln1 |
C |
T |
4: 43,535,737 (GRCm39) |
|
probably null |
Het |
Ttc28 |
A |
C |
5: 111,433,922 (GRCm39) |
I2319L |
possibly damaging |
Het |
Ttll11 |
A |
G |
2: 35,792,685 (GRCm39) |
I386T |
probably damaging |
Het |
Txndc8 |
T |
C |
4: 57,984,178 (GRCm39) |
E151G |
probably damaging |
Het |
Ubr1 |
T |
C |
2: 120,764,855 (GRCm39) |
E533G |
probably damaging |
Het |
Zscan4f |
A |
G |
7: 11,135,290 (GRCm39) |
H232R |
probably benign |
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 |
R7274:Pkp2
|
UTSW |
16 |
16,064,793 (GRCm39) |
missense |
possibly damaging |
0.92 |
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 |
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 |
|
|