Other mutations in this stock |
Total: 93 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
C |
1: 71,297,257 (GRCm39) |
L2411R |
probably damaging |
Het |
Als2 |
A |
G |
1: 59,245,746 (GRCm39) |
W577R |
probably damaging |
Het |
Aox1 |
C |
A |
1: 58,346,518 (GRCm39) |
R551S |
probably benign |
Het |
Areg |
A |
T |
5: 91,294,577 (GRCm39) |
H245L |
possibly damaging |
Het |
Arhgap35 |
T |
C |
7: 16,297,392 (GRCm39) |
T558A |
possibly damaging |
Het |
Arhgef28 |
A |
T |
13: 98,073,368 (GRCm39) |
C1322* |
probably null |
Het |
Arhgef38 |
T |
C |
3: 132,912,719 (GRCm39) |
R107G |
possibly damaging |
Het |
Atf7ip |
T |
A |
6: 136,548,500 (GRCm39) |
F695L |
probably damaging |
Het |
AW209491 |
C |
T |
13: 14,812,365 (GRCm39) |
A406V |
probably benign |
Het |
Bche |
T |
G |
3: 73,556,011 (GRCm39) |
Q549P |
possibly damaging |
Het |
Blnk |
A |
G |
19: 40,917,733 (GRCm39) |
F417L |
possibly damaging |
Het |
Bloc1s1 |
T |
G |
10: 128,759,255 (GRCm39) |
K17T |
probably damaging |
Het |
C330018D20Rik |
G |
T |
18: 57,090,968 (GRCm39) |
T65K |
probably damaging |
Het |
Ccdc168 |
A |
T |
1: 44,096,417 (GRCm39) |
N1560K |
probably benign |
Het |
Cers1 |
T |
A |
8: 70,774,228 (GRCm39) |
S162T |
possibly damaging |
Het |
Cgn |
T |
C |
3: 94,686,832 (GRCm39) |
K157E |
probably benign |
Het |
Cldn7 |
G |
A |
11: 69,858,494 (GRCm39) |
R196Q |
probably benign |
Het |
Clrn2 |
C |
A |
5: 45,611,369 (GRCm39) |
Q73K |
probably benign |
Het |
Cmss1 |
A |
G |
16: 57,122,608 (GRCm39) |
V262A |
probably benign |
Het |
Cpb2 |
T |
A |
14: 75,498,128 (GRCm39) |
V97E |
probably damaging |
Het |
Ctnnd2 |
G |
A |
15: 30,683,387 (GRCm39) |
V463I |
probably benign |
Het |
Cyp7a1 |
A |
T |
4: 6,268,476 (GRCm39) |
S416R |
probably benign |
Het |
Dip2b |
C |
T |
15: 100,087,960 (GRCm39) |
R965C |
probably damaging |
Het |
Dkk3 |
T |
C |
7: 111,749,865 (GRCm39) |
T102A |
probably benign |
Het |
Dmap1 |
C |
A |
4: 117,538,039 (GRCm39) |
|
probably null |
Het |
Dnah12 |
C |
A |
14: 26,608,828 (GRCm39) |
D3872E |
possibly damaging |
Het |
Dnah7b |
A |
G |
1: 46,158,558 (GRCm39) |
|
probably null |
Het |
Dnai1 |
C |
T |
4: 41,632,391 (GRCm39) |
T575I |
probably benign |
Het |
Dsg1a |
T |
A |
18: 20,464,599 (GRCm39) |
Y365N |
probably damaging |
Het |
Dusp11 |
T |
A |
6: 85,936,215 (GRCm39) |
K18* |
probably null |
Het |
E2f2 |
A |
T |
4: 135,900,245 (GRCm39) |
T52S |
probably benign |
Het |
Elavl4 |
A |
G |
4: 110,147,841 (GRCm39) |
L13S |
probably benign |
Het |
Epor |
T |
C |
9: 21,873,572 (GRCm39) |
D59G |
possibly damaging |
Het |
Eral1 |
A |
G |
11: 77,971,059 (GRCm39) |
C43R |
possibly damaging |
Het |
Fam135b |
A |
G |
15: 71,362,697 (GRCm39) |
V228A |
probably benign |
Het |
Gba1 |
T |
C |
3: 89,113,129 (GRCm39) |
S187P |
probably damaging |
Het |
Gcc2 |
G |
T |
10: 58,091,669 (GRCm39) |
|
probably benign |
Het |
Gdap2 |
C |
A |
3: 100,109,572 (GRCm39) |
|
probably benign |
Het |
Gm10271 |
A |
T |
10: 116,808,497 (GRCm39) |
F6L |
probably damaging |
Het |
Gm10801 |
C |
CGTG |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
Gpr160 |
T |
C |
3: 30,950,612 (GRCm39) |
L228P |
probably benign |
Het |
Gsdmc2 |
A |
C |
15: 63,702,715 (GRCm39) |
V184G |
probably benign |
Het |
Gtf2e2 |
A |
T |
8: 34,266,080 (GRCm39) |
K252M |
probably damaging |
Het |
Gtf2e2 |
G |
T |
8: 34,266,081 (GRCm39) |
K252N |
probably benign |
Het |
Gys1 |
T |
C |
7: 45,087,529 (GRCm39) |
Y102H |
probably benign |
Het |
H4c2 |
A |
G |
13: 23,941,209 (GRCm39) |
D69G |
probably damaging |
Het |
Ifit3b |
A |
C |
19: 34,589,598 (GRCm39) |
D258A |
probably damaging |
Het |
Itpr3 |
T |
A |
17: 27,323,575 (GRCm39) |
M1200K |
probably damaging |
Het |
Kcng4 |
A |
T |
8: 120,353,098 (GRCm39) |
F271I |
probably damaging |
Het |
Klhdc2 |
C |
T |
12: 69,350,387 (GRCm39) |
S144L |
possibly damaging |
Het |
Lhcgr |
A |
G |
17: 89,063,006 (GRCm39) |
F222S |
probably damaging |
Het |
Lrp5 |
C |
G |
19: 3,678,299 (GRCm39) |
G519R |
probably damaging |
Het |
Magel2 |
T |
C |
7: 62,028,515 (GRCm39) |
V473A |
probably benign |
Het |
Map1a |
T |
C |
2: 121,134,776 (GRCm39) |
V1864A |
possibly damaging |
Het |
Mast4 |
T |
A |
13: 102,895,242 (GRCm39) |
Q760H |
probably damaging |
Het |
Mertk |
A |
G |
2: 128,613,294 (GRCm39) |
N437D |
probably benign |
Het |
Mettl18 |
G |
A |
1: 163,824,344 (GRCm39) |
V222I |
probably benign |
Het |
Mical2 |
C |
T |
7: 111,934,155 (GRCm39) |
T782M |
probably benign |
Het |
Mocos |
T |
A |
18: 24,819,750 (GRCm39) |
V664E |
probably damaging |
Het |
Neb |
G |
T |
2: 52,185,306 (GRCm39) |
N975K |
probably benign |
Het |
Nectin3 |
A |
T |
16: 46,284,508 (GRCm39) |
S59T |
probably benign |
Het |
Nelfb |
A |
T |
2: 25,093,900 (GRCm39) |
M11K |
probably damaging |
Het |
Nrp1 |
A |
G |
8: 129,202,650 (GRCm39) |
N545S |
probably damaging |
Het |
Or10ak11 |
T |
C |
4: 118,687,478 (GRCm39) |
D53G |
probably damaging |
Het |
Or2g1 |
T |
A |
17: 38,107,248 (GRCm39) |
N304K |
probably benign |
Het |
Or51b4 |
T |
A |
7: 103,530,907 (GRCm39) |
D181V |
probably damaging |
Het |
Or5b117 |
A |
T |
19: 13,431,324 (GRCm39) |
S186T |
possibly damaging |
Het |
Or5p67 |
T |
A |
7: 107,922,254 (GRCm39) |
T210S |
probably benign |
Het |
Or6c70 |
A |
T |
10: 129,710,390 (GRCm39) |
F79I |
probably damaging |
Het |
Or8g53 |
T |
C |
9: 39,683,836 (GRCm39) |
T87A |
probably benign |
Het |
P3h1 |
A |
G |
4: 119,103,862 (GRCm39) |
H587R |
probably damaging |
Het |
Paqr4 |
A |
G |
17: 23,958,832 (GRCm39) |
|
probably null |
Het |
Pde12 |
A |
G |
14: 26,390,253 (GRCm39) |
V152A |
probably benign |
Het |
Ppip5k1 |
C |
A |
2: 121,180,972 (GRCm39) |
E45* |
probably null |
Het |
Rgs12 |
A |
G |
5: 35,177,689 (GRCm39) |
N93S |
probably damaging |
Het |
Rif1 |
C |
G |
2: 51,985,856 (GRCm39) |
L614V |
probably damaging |
Het |
Rnf32 |
T |
C |
5: 29,408,145 (GRCm39) |
S125P |
probably damaging |
Het |
Robo4 |
A |
G |
9: 37,322,696 (GRCm39) |
I850V |
probably damaging |
Het |
Scap |
T |
A |
9: 110,210,219 (GRCm39) |
I876N |
probably damaging |
Het |
Sin3a |
A |
G |
9: 57,034,484 (GRCm39) |
D1219G |
possibly damaging |
Het |
Skint5 |
T |
C |
4: 113,743,005 (GRCm39) |
E354G |
unknown |
Het |
Spart |
A |
G |
3: 55,033,962 (GRCm39) |
D396G |
probably benign |
Het |
Spindoc |
G |
A |
19: 7,351,024 (GRCm39) |
S311L |
probably benign |
Het |
Spta1 |
G |
T |
1: 174,050,894 (GRCm39) |
R1791L |
probably damaging |
Het |
Tbck |
T |
C |
3: 132,507,278 (GRCm39) |
I750T |
possibly damaging |
Het |
Tmem191 |
T |
C |
16: 17,094,334 (GRCm39) |
|
probably null |
Het |
Trgv1 |
A |
T |
13: 19,524,474 (GRCm39) |
Y66F |
probably benign |
Het |
Vmn2r125 |
A |
G |
4: 156,702,292 (GRCm39) |
Y26C |
probably damaging |
Het |
Zbtb17 |
T |
C |
4: 141,192,128 (GRCm39) |
C358R |
possibly damaging |
Het |
Zfp180 |
G |
A |
7: 23,804,859 (GRCm39) |
G426E |
probably damaging |
Het |
Zfp445 |
A |
G |
9: 122,682,951 (GRCm39) |
V330A |
probably benign |
Het |
Zfp595 |
A |
G |
13: 67,465,688 (GRCm39) |
C192R |
probably damaging |
Het |
Zkscan4 |
A |
G |
13: 21,668,623 (GRCm39) |
H387R |
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 |
|
R0550:Ptch2
|
UTSW |
4 |
116,953,630 (GRCm39) |
splice site |
probably benign |
|
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 |
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 |
|