Other mutations in this stock |
Total: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
A |
T |
11: 110,184,666 (GRCm39) |
Y947N |
probably damaging |
Het |
Acss3 |
C |
A |
10: 106,889,332 (GRCm39) |
G163C |
probably damaging |
Het |
Adcy10 |
A |
G |
1: 165,392,884 (GRCm39) |
T1367A |
probably benign |
Het |
Adcy2 |
A |
T |
13: 69,130,480 (GRCm39) |
S136T |
probably benign |
Het |
Ahdc1 |
G |
A |
4: 132,790,348 (GRCm39) |
V530I |
probably benign |
Het |
Aldh16a1 |
C |
T |
7: 44,795,653 (GRCm39) |
|
probably null |
Het |
Ankrd36 |
T |
C |
11: 5,557,429 (GRCm39) |
|
probably null |
Het |
Aqr |
A |
C |
2: 113,963,457 (GRCm39) |
N664K |
probably damaging |
Het |
Atp6v1c1 |
T |
C |
15: 38,683,173 (GRCm39) |
|
probably benign |
Het |
Atp8b2 |
C |
T |
3: 89,866,368 (GRCm39) |
|
probably benign |
Het |
Bbx |
T |
C |
16: 50,094,896 (GRCm39) |
|
probably benign |
Het |
Bmper |
T |
A |
9: 23,285,181 (GRCm39) |
D243E |
probably benign |
Het |
Casz1 |
GCCACCACCACCACCACCACCAC |
GCCACCACCACCACCACCAC |
4: 149,036,741 (GRCm39) |
|
probably benign |
Het |
Catsperd |
T |
C |
17: 56,970,427 (GRCm39) |
|
probably null |
Het |
Ccdc92b |
T |
A |
11: 74,520,771 (GRCm39) |
|
probably null |
Het |
Cd2bp2 |
G |
T |
7: 126,792,996 (GRCm39) |
T342K |
probably damaging |
Het |
Clrn3 |
T |
A |
7: 135,130,154 (GRCm39) |
I27F |
possibly damaging |
Het |
Cnih3 |
TTGACGAG |
T |
1: 181,234,042 (GRCm39) |
|
probably null |
Het |
Cntnap3 |
T |
C |
13: 64,909,814 (GRCm39) |
T764A |
possibly damaging |
Het |
Cttnbp2 |
T |
G |
6: 18,435,308 (GRCm39) |
K183N |
possibly damaging |
Het |
Cwc27 |
G |
A |
13: 104,941,457 (GRCm39) |
P155L |
probably damaging |
Het |
Dcaf10 |
T |
C |
4: 45,372,753 (GRCm39) |
S389P |
probably benign |
Het |
Ddx18 |
T |
C |
1: 121,483,104 (GRCm39) |
K561E |
probably benign |
Het |
Dkk3 |
A |
G |
7: 111,757,452 (GRCm39) |
F51L |
probably damaging |
Het |
Dnai1 |
C |
T |
4: 41,596,274 (GRCm39) |
R20* |
probably null |
Het |
Dr1 |
G |
A |
5: 108,417,471 (GRCm39) |
G6S |
probably benign |
Het |
Dync2h1 |
A |
T |
9: 7,120,954 (GRCm39) |
|
probably null |
Het |
Eif3l |
A |
G |
15: 78,961,067 (GRCm39) |
Y16C |
probably damaging |
Het |
Epb41 |
A |
G |
4: 131,702,924 (GRCm39) |
I464T |
probably damaging |
Het |
Erc2 |
A |
G |
14: 27,993,608 (GRCm39) |
K546E |
possibly damaging |
Het |
F830045P16Rik |
T |
C |
2: 129,305,429 (GRCm39) |
D315G |
probably damaging |
Het |
Fads6 |
A |
G |
11: 115,187,503 (GRCm39) |
I64T |
probably benign |
Het |
Fshr |
T |
C |
17: 89,352,553 (GRCm39) |
N107S |
probably benign |
Het |
Gbp11 |
A |
T |
5: 105,491,616 (GRCm39) |
N60K |
probably benign |
Het |
Gm2a |
C |
T |
11: 54,994,491 (GRCm39) |
Q54* |
probably null |
Het |
Hydin |
A |
G |
8: 111,314,407 (GRCm39) |
D4297G |
probably benign |
Het |
Il6st |
G |
A |
13: 112,611,648 (GRCm39) |
|
probably null |
Het |
Inpp4b |
T |
A |
8: 82,723,966 (GRCm39) |
H499Q |
probably benign |
Het |
Kif5c |
A |
G |
2: 49,648,924 (GRCm39) |
K956R |
possibly damaging |
Het |
Krt74 |
G |
A |
15: 101,669,114 (GRCm39) |
|
noncoding transcript |
Het |
Map3k9 |
A |
T |
12: 81,772,555 (GRCm39) |
L649Q |
probably damaging |
Het |
Mdn1 |
A |
G |
4: 32,730,479 (GRCm39) |
D2871G |
probably benign |
Het |
Mylk4 |
T |
C |
13: 32,900,649 (GRCm39) |
T294A |
probably benign |
Het |
Nbeal2 |
C |
T |
9: 110,471,226 (GRCm39) |
V252I |
probably benign |
Het |
Nectin3 |
A |
G |
16: 46,279,183 (GRCm39) |
I265T |
possibly damaging |
Het |
Opn1sw |
A |
T |
6: 29,380,203 (GRCm39) |
L71Q |
probably damaging |
Het |
Or4c12 |
A |
G |
2: 89,773,733 (GRCm39) |
I242T |
probably damaging |
Het |
Or52m1 |
G |
A |
7: 102,290,157 (GRCm39) |
E235K |
possibly damaging |
Het |
Or5aq6 |
G |
T |
2: 86,923,473 (GRCm39) |
H89Q |
probably benign |
Het |
Or5b97 |
A |
T |
19: 12,879,164 (GRCm39) |
|
probably null |
Het |
Or5k17 |
A |
G |
16: 58,746,748 (GRCm39) |
F62S |
probably damaging |
Het |
Or8b46 |
T |
A |
9: 38,450,676 (GRCm39) |
C162S |
probably damaging |
Het |
Or8k27 |
A |
T |
2: 86,276,220 (GRCm39) |
Y35* |
probably null |
Het |
Pced1a |
G |
A |
2: 130,261,553 (GRCm39) |
P367S |
probably benign |
Het |
Pkhd1 |
A |
T |
1: 20,417,447 (GRCm39) |
M2568K |
probably null |
Het |
Pla2r1 |
A |
G |
2: 60,255,694 (GRCm39) |
|
probably null |
Het |
Plpp1 |
T |
C |
13: 112,971,519 (GRCm39) |
I62T |
probably benign |
Het |
Polr3g |
G |
A |
13: 81,842,892 (GRCm39) |
T41I |
probably damaging |
Het |
Sema4g |
A |
T |
19: 44,986,104 (GRCm39) |
H315L |
probably benign |
Het |
Setd1b |
G |
T |
5: 123,295,723 (GRCm39) |
S1097I |
unknown |
Het |
Sfxn4 |
A |
G |
19: 60,839,383 (GRCm39) |
|
probably benign |
Het |
Sh3tc1 |
T |
C |
5: 35,857,128 (GRCm39) |
E1237G |
probably damaging |
Het |
Slc25a38 |
A |
T |
9: 119,952,709 (GRCm39) |
N287I |
probably benign |
Het |
Slc25a48 |
A |
G |
13: 56,596,811 (GRCm39) |
T31A |
probably benign |
Het |
Slc6a12 |
G |
A |
6: 121,333,877 (GRCm39) |
V238I |
probably damaging |
Het |
Slc8b1 |
A |
G |
5: 120,669,220 (GRCm39) |
|
probably benign |
Het |
Slco4c1 |
A |
C |
1: 96,795,584 (GRCm39) |
V158G |
probably damaging |
Het |
Sptbn4 |
T |
C |
7: 27,063,803 (GRCm39) |
T2208A |
probably benign |
Het |
Srebf1 |
G |
A |
11: 60,092,502 (GRCm39) |
T843I |
probably benign |
Het |
Srl |
A |
G |
16: 4,305,429 (GRCm39) |
W101R |
probably damaging |
Het |
St6galnac4 |
T |
A |
2: 32,484,031 (GRCm39) |
C76* |
probably null |
Het |
Tdrd3 |
C |
A |
14: 87,723,656 (GRCm39) |
T290K |
probably damaging |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
Trpm3 |
A |
G |
19: 22,965,176 (GRCm39) |
E1547G |
probably damaging |
Het |
Ubn1 |
A |
G |
16: 4,880,484 (GRCm39) |
|
probably null |
Het |
Usp10 |
T |
A |
8: 120,674,540 (GRCm39) |
I456K |
probably damaging |
Het |
Usp6nl |
A |
G |
2: 6,405,134 (GRCm39) |
|
probably benign |
Het |
Vit |
T |
A |
17: 78,932,222 (GRCm39) |
V443E |
possibly damaging |
Het |
Whamm |
G |
A |
7: 81,235,972 (GRCm39) |
V392I |
possibly damaging |
Het |
Zfhx4 |
A |
G |
3: 5,465,554 (GRCm39) |
K1904R |
probably damaging |
Het |
Zfp352 |
A |
T |
4: 90,112,927 (GRCm39) |
T356S |
probably damaging |
Het |
|
Other mutations in Ptch2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01480:Ptch2
|
APN |
4 |
116,971,279 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01684:Ptch2
|
APN |
4 |
116,961,984 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01967:Ptch2
|
APN |
4 |
116,971,430 (GRCm39) |
splice site |
probably benign |
|
IGL02449:Ptch2
|
APN |
4 |
116,965,380 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL02488:Ptch2
|
APN |
4 |
116,967,593 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02935:Ptch2
|
APN |
4 |
116,971,967 (GRCm39) |
missense |
probably damaging |
1.00 |
R0103:Ptch2
|
UTSW |
4 |
116,966,622 (GRCm39) |
splice site |
probably benign |
|
R0326:Ptch2
|
UTSW |
4 |
116,966,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R0403:Ptch2
|
UTSW |
4 |
116,968,036 (GRCm39) |
nonsense |
probably null |
|
R0499:Ptch2
|
UTSW |
4 |
116,968,340 (GRCm39) |
nonsense |
probably null |
|
R0565:Ptch2
|
UTSW |
4 |
116,963,340 (GRCm39) |
splice site |
probably benign |
|
R1469:Ptch2
|
UTSW |
4 |
116,965,662 (GRCm39) |
missense |
probably benign |
|
R1469:Ptch2
|
UTSW |
4 |
116,965,662 (GRCm39) |
missense |
probably benign |
|
R1484:Ptch2
|
UTSW |
4 |
116,968,046 (GRCm39) |
missense |
probably damaging |
0.97 |
R1920:Ptch2
|
UTSW |
4 |
116,965,858 (GRCm39) |
missense |
probably benign |
0.09 |
R4080:Ptch2
|
UTSW |
4 |
116,968,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R4611:Ptch2
|
UTSW |
4 |
116,967,575 (GRCm39) |
missense |
probably benign |
0.24 |
R5117:Ptch2
|
UTSW |
4 |
116,963,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R5240:Ptch2
|
UTSW |
4 |
116,963,335 (GRCm39) |
splice site |
probably benign |
|
R5936:Ptch2
|
UTSW |
4 |
116,965,491 (GRCm39) |
missense |
probably benign |
0.39 |
R5987:Ptch2
|
UTSW |
4 |
116,967,254 (GRCm39) |
missense |
probably benign |
0.13 |
R6155:Ptch2
|
UTSW |
4 |
116,954,105 (GRCm39) |
missense |
probably damaging |
1.00 |
R7158:Ptch2
|
UTSW |
4 |
116,971,981 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7196:Ptch2
|
UTSW |
4 |
116,971,946 (GRCm39) |
missense |
probably benign |
0.23 |
R7346:Ptch2
|
UTSW |
4 |
116,971,849 (GRCm39) |
missense |
probably benign |
0.40 |
R7380:Ptch2
|
UTSW |
4 |
116,971,843 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7547:Ptch2
|
UTSW |
4 |
116,967,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R7600:Ptch2
|
UTSW |
4 |
116,953,422 (GRCm39) |
start gained |
probably benign |
|
R7731:Ptch2
|
UTSW |
4 |
116,965,492 (GRCm39) |
missense |
probably benign |
0.09 |
R7836:Ptch2
|
UTSW |
4 |
116,962,224 (GRCm39) |
splice site |
probably null |
|
R7874:Ptch2
|
UTSW |
4 |
116,963,161 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7881:Ptch2
|
UTSW |
4 |
116,967,585 (GRCm39) |
missense |
probably benign |
|
R7942:Ptch2
|
UTSW |
4 |
116,963,198 (GRCm39) |
missense |
probably benign |
0.01 |
R8426:Ptch2
|
UTSW |
4 |
116,965,369 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8715:Ptch2
|
UTSW |
4 |
116,968,719 (GRCm39) |
missense |
probably damaging |
0.98 |
R8759:Ptch2
|
UTSW |
4 |
116,967,630 (GRCm39) |
missense |
probably damaging |
0.99 |
R9082:Ptch2
|
UTSW |
4 |
116,962,297 (GRCm39) |
critical splice donor site |
probably null |
|
R9276:Ptch2
|
UTSW |
4 |
116,967,505 (GRCm39) |
missense |
probably damaging |
0.97 |
R9336:Ptch2
|
UTSW |
4 |
116,966,776 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9336:Ptch2
|
UTSW |
4 |
116,954,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R9368:Ptch2
|
UTSW |
4 |
116,961,969 (GRCm39) |
missense |
probably damaging |
0.98 |
X0019:Ptch2
|
UTSW |
4 |
116,967,064 (GRCm39) |
missense |
possibly damaging |
0.64 |
X0024:Ptch2
|
UTSW |
4 |
116,967,064 (GRCm39) |
missense |
possibly damaging |
0.64 |
X0025:Ptch2
|
UTSW |
4 |
116,954,183 (GRCm39) |
missense |
probably damaging |
1.00 |
X0035:Ptch2
|
UTSW |
4 |
116,967,064 (GRCm39) |
missense |
possibly damaging |
0.64 |
X0038:Ptch2
|
UTSW |
4 |
116,967,064 (GRCm39) |
missense |
possibly damaging |
0.64 |
X0039:Ptch2
|
UTSW |
4 |
116,967,064 (GRCm39) |
missense |
possibly damaging |
0.64 |
X0040:Ptch2
|
UTSW |
4 |
116,967,064 (GRCm39) |
missense |
possibly damaging |
0.64 |
X0052:Ptch2
|
UTSW |
4 |
116,967,064 (GRCm39) |
missense |
possibly damaging |
0.64 |
X0053:Ptch2
|
UTSW |
4 |
116,967,064 (GRCm39) |
missense |
possibly damaging |
0.64 |
X0054:Ptch2
|
UTSW |
4 |
116,967,064 (GRCm39) |
missense |
possibly damaging |
0.64 |
X0061:Ptch2
|
UTSW |
4 |
116,967,064 (GRCm39) |
missense |
possibly damaging |
0.64 |
|