Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp6 |
T |
C |
3: 97,083,737 (GRCm39) |
Y404H |
possibly damaging |
Het |
Adgrv1 |
T |
A |
13: 81,620,996 (GRCm39) |
|
probably benign |
Het |
Akap13 |
A |
G |
7: 75,378,667 (GRCm39) |
K2107E |
probably damaging |
Het |
Ankrd42 |
A |
G |
7: 92,233,662 (GRCm39) |
|
probably benign |
Het |
Apba3 |
C |
T |
10: 81,108,901 (GRCm39) |
P555S |
probably damaging |
Het |
Aplnr |
A |
G |
2: 84,967,985 (GRCm39) |
S337G |
probably benign |
Het |
Arhgef40 |
A |
G |
14: 52,226,417 (GRCm39) |
N154D |
probably damaging |
Het |
Asb14 |
A |
G |
14: 26,633,998 (GRCm39) |
K401R |
probably benign |
Het |
Aspn |
C |
A |
13: 49,719,968 (GRCm39) |
T328K |
probably benign |
Het |
Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
Brca2 |
T |
A |
5: 150,463,363 (GRCm39) |
H1042Q |
probably benign |
Het |
C3 |
A |
G |
17: 57,533,004 (GRCm39) |
L167P |
probably benign |
Het |
Ccdc33 |
A |
G |
9: 57,977,257 (GRCm39) |
|
probably benign |
Het |
Cdk10 |
T |
A |
8: 123,957,063 (GRCm39) |
M222K |
possibly damaging |
Het |
Cfap45 |
C |
T |
1: 172,362,912 (GRCm39) |
|
probably benign |
Het |
Chil3 |
T |
A |
3: 106,056,017 (GRCm39) |
N352I |
probably damaging |
Het |
Chn2 |
G |
T |
6: 54,272,907 (GRCm39) |
|
probably null |
Het |
Cimip2b |
G |
A |
4: 43,428,158 (GRCm39) |
R100W |
possibly damaging |
Het |
Cpt1b |
T |
C |
15: 89,305,066 (GRCm39) |
E394G |
probably benign |
Het |
Fcgr2b |
T |
A |
1: 170,788,799 (GRCm39) |
N273I |
possibly damaging |
Het |
Fpr-rs7 |
G |
A |
17: 20,333,480 (GRCm39) |
Q337* |
probably null |
Het |
Fras1 |
T |
A |
5: 96,887,217 (GRCm39) |
N2666K |
possibly damaging |
Het |
Gfra3 |
C |
T |
18: 34,824,601 (GRCm39) |
|
probably null |
Het |
Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
Gpr75 |
C |
T |
11: 30,841,590 (GRCm39) |
T165I |
probably damaging |
Het |
Gzmd |
A |
T |
14: 56,367,737 (GRCm39) |
C179S |
probably damaging |
Het |
Hand1 |
T |
G |
11: 57,722,575 (GRCm39) |
H13P |
probably damaging |
Het |
Irak3 |
C |
T |
10: 120,013,972 (GRCm39) |
|
probably null |
Het |
Isl2 |
T |
A |
9: 55,452,253 (GRCm39) |
L275Q |
possibly damaging |
Het |
Itgb2 |
T |
C |
10: 77,393,240 (GRCm39) |
V367A |
probably damaging |
Het |
Katna1 |
T |
C |
10: 7,638,758 (GRCm39) |
|
probably benign |
Het |
Myh6 |
A |
G |
14: 55,184,450 (GRCm39) |
M1627T |
probably benign |
Het |
Naprt |
A |
G |
15: 75,765,164 (GRCm39) |
Y187H |
probably damaging |
Het |
Nedd4 |
T |
A |
9: 72,642,371 (GRCm39) |
V550E |
probably damaging |
Het |
Nt5c2 |
A |
G |
19: 46,884,954 (GRCm39) |
V252A |
possibly damaging |
Het |
Or8k39 |
T |
C |
2: 86,563,579 (GRCm39) |
I126V |
possibly damaging |
Het |
Or9i16 |
C |
T |
19: 13,864,945 (GRCm39) |
V210I |
probably benign |
Het |
P2ry2 |
A |
G |
7: 100,647,393 (GRCm39) |
V304A |
probably damaging |
Het |
Pde4dip |
T |
C |
3: 97,674,593 (GRCm39) |
N108D |
probably benign |
Het |
Pdgfrl |
A |
G |
8: 41,438,660 (GRCm39) |
T199A |
probably damaging |
Het |
Plaa |
A |
G |
4: 94,470,844 (GRCm39) |
Y431H |
probably benign |
Het |
Pls1 |
A |
T |
9: 95,664,472 (GRCm39) |
I177N |
possibly damaging |
Het |
Plxna2 |
T |
C |
1: 194,472,138 (GRCm39) |
F1035L |
probably damaging |
Het |
Ppp6r3 |
A |
T |
19: 3,564,729 (GRCm39) |
|
probably null |
Het |
Prpf4b |
T |
C |
13: 35,067,890 (GRCm39) |
S240P |
probably benign |
Het |
Reg2 |
T |
A |
6: 78,383,204 (GRCm39) |
Y50* |
probably null |
Het |
Rev3l |
C |
T |
10: 39,682,965 (GRCm39) |
T361I |
probably benign |
Het |
Rps4l |
A |
G |
6: 148,256,383 (GRCm39) |
|
probably benign |
Het |
Scn11a |
A |
T |
9: 119,598,982 (GRCm39) |
F1183I |
probably damaging |
Het |
Sh2b2 |
T |
C |
5: 136,253,273 (GRCm39) |
E327G |
probably damaging |
Het |
Sim2 |
T |
A |
16: 93,915,803 (GRCm39) |
Y255* |
probably null |
Het |
Snx9 |
A |
G |
17: 5,949,636 (GRCm39) |
N112S |
probably benign |
Het |
Sphkap |
T |
A |
1: 83,258,237 (GRCm39) |
I169F |
probably damaging |
Het |
Spink5 |
A |
G |
18: 44,100,111 (GRCm39) |
T43A |
probably benign |
Het |
Stac2 |
C |
T |
11: 97,932,005 (GRCm39) |
S265N |
probably benign |
Het |
Tbx20 |
A |
G |
9: 24,670,044 (GRCm39) |
V91A |
probably damaging |
Het |
Tgfbr2 |
C |
T |
9: 115,939,257 (GRCm39) |
R190H |
probably damaging |
Het |
Ubr2 |
A |
G |
17: 47,301,916 (GRCm39) |
|
probably null |
Het |
Wdfy3 |
C |
T |
5: 102,063,204 (GRCm39) |
|
probably null |
Het |
Wdr82 |
T |
C |
9: 106,061,449 (GRCm39) |
V166A |
probably benign |
Het |
Zfhx4 |
C |
T |
3: 5,307,401 (GRCm39) |
A209V |
probably damaging |
Het |
Zfp518b |
T |
A |
5: 38,831,109 (GRCm39) |
T299S |
possibly damaging |
Het |
|
Other mutations in Shank2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00516:Shank2
|
APN |
7 |
143,964,512 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL00919:Shank2
|
APN |
7 |
143,965,008 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01450:Shank2
|
APN |
7 |
143,838,805 (GRCm39) |
nonsense |
probably null |
|
IGL01996:Shank2
|
APN |
7 |
143,965,230 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02217:Shank2
|
APN |
7 |
143,838,784 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL02314:Shank2
|
APN |
7 |
143,965,008 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02320:Shank2
|
APN |
7 |
143,974,681 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02948:Shank2
|
APN |
7 |
143,963,373 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02997:Shank2
|
APN |
7 |
143,635,610 (GRCm39) |
missense |
probably benign |
0.16 |
R0077:Shank2
|
UTSW |
7 |
143,746,204 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0109:Shank2
|
UTSW |
7 |
143,964,314 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0126:Shank2
|
UTSW |
7 |
143,585,092 (GRCm39) |
missense |
probably damaging |
0.99 |
R0153:Shank2
|
UTSW |
7 |
143,623,872 (GRCm39) |
missense |
probably benign |
0.04 |
R0644:Shank2
|
UTSW |
7 |
143,965,586 (GRCm39) |
missense |
probably benign |
|
R1072:Shank2
|
UTSW |
7 |
143,965,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R1245:Shank2
|
UTSW |
7 |
143,965,457 (GRCm39) |
missense |
probably benign |
0.00 |
R1424:Shank2
|
UTSW |
7 |
143,606,109 (GRCm39) |
missense |
probably damaging |
0.99 |
R1712:Shank2
|
UTSW |
7 |
143,964,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R1739:Shank2
|
UTSW |
7 |
143,733,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R1791:Shank2
|
UTSW |
7 |
143,964,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R1889:Shank2
|
UTSW |
7 |
143,740,595 (GRCm39) |
nonsense |
probably null |
|
R2074:Shank2
|
UTSW |
7 |
143,963,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R2135:Shank2
|
UTSW |
7 |
143,964,971 (GRCm39) |
missense |
probably damaging |
0.99 |
R2355:Shank2
|
UTSW |
7 |
143,611,455 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2511:Shank2
|
UTSW |
7 |
143,965,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R2517:Shank2
|
UTSW |
7 |
143,606,042 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2570:Shank2
|
UTSW |
7 |
143,622,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R2846:Shank2
|
UTSW |
7 |
143,623,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R3159:Shank2
|
UTSW |
7 |
143,635,611 (GRCm39) |
missense |
probably damaging |
0.98 |
R3881:Shank2
|
UTSW |
7 |
143,959,121 (GRCm39) |
missense |
probably benign |
|
R3907:Shank2
|
UTSW |
7 |
143,963,313 (GRCm39) |
missense |
probably damaging |
1.00 |
R3938:Shank2
|
UTSW |
7 |
143,682,112 (GRCm39) |
missense |
probably benign |
0.20 |
R4151:Shank2
|
UTSW |
7 |
143,608,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R4369:Shank2
|
UTSW |
7 |
143,733,518 (GRCm39) |
missense |
probably damaging |
0.99 |
R4372:Shank2
|
UTSW |
7 |
143,964,599 (GRCm39) |
missense |
probably benign |
0.09 |
R4519:Shank2
|
UTSW |
7 |
143,963,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R4627:Shank2
|
UTSW |
7 |
143,965,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R4645:Shank2
|
UTSW |
7 |
143,964,159 (GRCm39) |
missense |
possibly damaging |
0.65 |
R4647:Shank2
|
UTSW |
7 |
143,965,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R4689:Shank2
|
UTSW |
7 |
143,974,342 (GRCm39) |
missense |
probably benign |
0.07 |
R4751:Shank2
|
UTSW |
7 |
143,963,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R4816:Shank2
|
UTSW |
7 |
143,606,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R4843:Shank2
|
UTSW |
7 |
143,585,146 (GRCm39) |
missense |
probably benign |
0.17 |
R4929:Shank2
|
UTSW |
7 |
143,965,008 (GRCm39) |
missense |
probably benign |
0.01 |
R5009:Shank2
|
UTSW |
7 |
143,623,916 (GRCm39) |
missense |
probably benign |
0.00 |
R5027:Shank2
|
UTSW |
7 |
143,812,842 (GRCm39) |
nonsense |
probably null |
|
R5165:Shank2
|
UTSW |
7 |
143,963,373 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5278:Shank2
|
UTSW |
7 |
143,622,612 (GRCm39) |
critical splice donor site |
probably null |
|
R5332:Shank2
|
UTSW |
7 |
143,965,029 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5497:Shank2
|
UTSW |
7 |
143,963,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R5525:Shank2
|
UTSW |
7 |
143,623,846 (GRCm39) |
missense |
probably damaging |
1.00 |
R5575:Shank2
|
UTSW |
7 |
143,963,871 (GRCm39) |
missense |
probably damaging |
1.00 |
R5948:Shank2
|
UTSW |
7 |
143,960,960 (GRCm39) |
missense |
probably damaging |
0.98 |
R6024:Shank2
|
UTSW |
7 |
143,733,768 (GRCm39) |
missense |
probably benign |
0.12 |
R6306:Shank2
|
UTSW |
7 |
143,963,417 (GRCm39) |
missense |
probably benign |
0.00 |
R6317:Shank2
|
UTSW |
7 |
143,838,821 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6358:Shank2
|
UTSW |
7 |
143,585,034 (GRCm39) |
missense |
probably benign |
0.25 |
R6364:Shank2
|
UTSW |
7 |
143,964,146 (GRCm39) |
missense |
probably benign |
0.14 |
R6413:Shank2
|
UTSW |
7 |
143,963,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R6680:Shank2
|
UTSW |
7 |
143,974,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R6834:Shank2
|
UTSW |
7 |
143,963,631 (GRCm39) |
missense |
probably damaging |
1.00 |
R6870:Shank2
|
UTSW |
7 |
143,606,197 (GRCm39) |
missense |
probably damaging |
0.99 |
R6933:Shank2
|
UTSW |
7 |
143,645,515 (GRCm39) |
missense |
probably benign |
0.19 |
R6983:Shank2
|
UTSW |
7 |
143,635,585 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7082:Shank2
|
UTSW |
7 |
143,964,096 (GRCm39) |
missense |
probably damaging |
0.99 |
R7100:Shank2
|
UTSW |
7 |
143,964,901 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7111:Shank2
|
UTSW |
7 |
143,965,289 (GRCm39) |
missense |
probably benign |
0.00 |
R7213:Shank2
|
UTSW |
7 |
143,585,146 (GRCm39) |
missense |
probably benign |
0.17 |
R7225:Shank2
|
UTSW |
7 |
143,838,762 (GRCm39) |
missense |
probably benign |
0.42 |
R7325:Shank2
|
UTSW |
7 |
143,965,422 (GRCm39) |
missense |
probably benign |
0.04 |
R7605:Shank2
|
UTSW |
7 |
143,645,516 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7909:Shank2
|
UTSW |
7 |
143,965,131 (GRCm39) |
missense |
probably damaging |
1.00 |
R7976:Shank2
|
UTSW |
7 |
143,964,798 (GRCm39) |
missense |
probably damaging |
0.99 |
R8118:Shank2
|
UTSW |
7 |
143,963,612 (GRCm39) |
missense |
probably benign |
0.01 |
R8722:Shank2
|
UTSW |
7 |
143,729,485 (GRCm39) |
intron |
probably benign |
|
R8866:Shank2
|
UTSW |
7 |
143,964,986 (GRCm39) |
missense |
probably benign |
|
R8919:Shank2
|
UTSW |
7 |
143,965,265 (GRCm39) |
missense |
probably damaging |
1.00 |
R8944:Shank2
|
UTSW |
7 |
143,623,927 (GRCm39) |
missense |
probably damaging |
1.00 |
R9033:Shank2
|
UTSW |
7 |
143,965,236 (GRCm39) |
missense |
probably damaging |
0.99 |
R9091:Shank2
|
UTSW |
7 |
143,963,705 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9252:Shank2
|
UTSW |
7 |
143,622,535 (GRCm39) |
missense |
possibly damaging |
0.96 |
R9270:Shank2
|
UTSW |
7 |
143,963,705 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9350:Shank2
|
UTSW |
7 |
143,960,945 (GRCm39) |
missense |
probably benign |
0.00 |
R9362:Shank2
|
UTSW |
7 |
143,963,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R9471:Shank2
|
UTSW |
7 |
143,964,752 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9524:Shank2
|
UTSW |
7 |
143,964,183 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9557:Shank2
|
UTSW |
7 |
143,963,847 (GRCm39) |
missense |
probably benign |
0.00 |
R9559:Shank2
|
UTSW |
7 |
143,585,041 (GRCm39) |
missense |
probably benign |
0.30 |
R9574:Shank2
|
UTSW |
7 |
143,622,462 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9680:Shank2
|
UTSW |
7 |
143,964,837 (GRCm39) |
missense |
probably damaging |
0.96 |
R9720:Shank2
|
UTSW |
7 |
143,682,137 (GRCm39) |
missense |
probably damaging |
0.99 |
RF009:Shank2
|
UTSW |
7 |
143,965,308 (GRCm39) |
missense |
possibly damaging |
0.81 |
Z1176:Shank2
|
UTSW |
7 |
143,682,114 (GRCm39) |
nonsense |
probably null |
|
|