Incidental Mutation 'IGL03242:Catsperg2'
ID |
414908 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Catsperg2
|
Ensembl Gene |
ENSMUSG00000049123 |
Gene Name |
cation channel sperm associated auxiliary subunit gamma 2 |
Synonyms |
CATSPERG, 1700067C01Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
IGL03242
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
29396644-29426457 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 29424904 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147099
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061193]
[ENSMUST00000207115]
[ENSMUST00000208371]
[ENSMUST00000208607]
[ENSMUST00000209126]
|
AlphaFold |
C6KI89 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000061193
|
SMART Domains |
Protein: ENSMUSP00000052285 Gene: ENSMUSG00000049123
Domain | Start | End | E-Value | Type |
Pfam:CATSPERG
|
2 |
973 |
N/A |
PFAM |
transmembrane domain
|
1065 |
1087 |
N/A |
INTRINSIC |
low complexity region
|
1106 |
1118 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207115
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207130
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207251
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207483
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208345
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208371
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208607
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209126
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
T |
C |
16: 4,667,189 (GRCm39) |
W221R |
unknown |
Het |
Ank2 |
A |
G |
3: 126,722,454 (GRCm39) |
F1000L |
possibly damaging |
Het |
Aoc1l2 |
T |
C |
6: 48,909,479 (GRCm39) |
F575L |
possibly damaging |
Het |
Bahcc1 |
T |
C |
11: 120,159,126 (GRCm39) |
|
probably benign |
Het |
BC024139 |
T |
C |
15: 76,004,520 (GRCm39) |
M679V |
probably benign |
Het |
Carmil2 |
A |
G |
8: 106,417,952 (GRCm39) |
|
probably benign |
Het |
Chrnb4 |
A |
T |
9: 54,942,812 (GRCm39) |
I154K |
probably damaging |
Het |
Clec2e |
A |
C |
6: 129,071,989 (GRCm39) |
L130W |
probably damaging |
Het |
Coro2b |
G |
T |
9: 62,336,243 (GRCm39) |
Y281* |
probably null |
Het |
Dlk2 |
A |
G |
17: 46,613,903 (GRCm39) |
Y386C |
probably benign |
Het |
Dnah7a |
A |
T |
1: 53,659,882 (GRCm39) |
F709I |
probably benign |
Het |
Efcab3 |
A |
C |
11: 104,997,230 (GRCm39) |
E140A |
probably damaging |
Het |
Exoc1 |
T |
C |
5: 76,706,854 (GRCm39) |
L467P |
probably damaging |
Het |
Fkbp2 |
A |
G |
19: 6,955,980 (GRCm39) |
V75A |
probably benign |
Het |
Glud1 |
T |
C |
14: 34,056,237 (GRCm39) |
F304L |
probably benign |
Het |
Gsr |
T |
A |
8: 34,175,627 (GRCm39) |
V291E |
probably benign |
Het |
Itprid2 |
C |
T |
2: 79,473,815 (GRCm39) |
R189* |
probably null |
Het |
Kap |
A |
G |
6: 133,828,763 (GRCm39) |
|
probably benign |
Het |
Kmt2a |
G |
T |
9: 44,759,689 (GRCm39) |
T720N |
probably damaging |
Het |
Lrrtm4 |
T |
C |
6: 79,999,071 (GRCm39) |
I161T |
probably benign |
Het |
Lyst |
T |
A |
13: 13,831,466 (GRCm39) |
L1630* |
probably null |
Het |
Med13l |
A |
G |
5: 118,885,510 (GRCm39) |
S1488G |
probably benign |
Het |
Mlxip |
A |
G |
5: 123,578,124 (GRCm39) |
K147E |
probably damaging |
Het |
Nalcn |
T |
C |
14: 123,558,899 (GRCm39) |
E810G |
possibly damaging |
Het |
Or2d4 |
A |
G |
7: 106,544,125 (GRCm39) |
F28L |
possibly damaging |
Het |
Or56a5 |
G |
A |
7: 104,793,473 (GRCm39) |
S15F |
probably benign |
Het |
Or5p54 |
T |
C |
7: 107,554,688 (GRCm39) |
V280A |
possibly damaging |
Het |
Pcare |
A |
G |
17: 72,057,266 (GRCm39) |
S804P |
probably benign |
Het |
Piezo2 |
T |
C |
18: 63,144,609 (GRCm39) |
|
probably benign |
Het |
Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
Serpina3j |
G |
A |
12: 104,285,960 (GRCm39) |
A372T |
possibly damaging |
Het |
Slc28a3 |
G |
A |
13: 58,722,063 (GRCm39) |
Q274* |
probably null |
Het |
Stk36 |
T |
C |
1: 74,662,511 (GRCm39) |
F543S |
possibly damaging |
Het |
Tfrc |
T |
C |
16: 32,448,930 (GRCm39) |
S690P |
probably damaging |
Het |
Tg |
C |
A |
15: 66,555,647 (GRCm39) |
Q780K |
probably damaging |
Het |
Top1 |
T |
A |
2: 160,557,653 (GRCm39) |
H578Q |
probably damaging |
Het |
Treh |
A |
G |
9: 44,596,634 (GRCm39) |
T463A |
possibly damaging |
Het |
Treml1 |
G |
A |
17: 48,673,016 (GRCm39) |
|
probably benign |
Het |
Trpm2 |
A |
G |
10: 77,753,568 (GRCm39) |
V1312A |
probably benign |
Het |
Ttc41 |
T |
A |
10: 86,612,683 (GRCm39) |
*1319K |
probably null |
Het |
Tulp2 |
A |
G |
7: 45,171,282 (GRCm39) |
I354M |
probably damaging |
Het |
Ugt2b35 |
T |
C |
5: 87,155,254 (GRCm39) |
L363P |
probably damaging |
Het |
Usp13 |
A |
T |
3: 32,956,218 (GRCm39) |
M496L |
probably benign |
Het |
Virma |
T |
C |
4: 11,527,669 (GRCm39) |
S1187P |
possibly damaging |
Het |
Wdr76 |
T |
A |
2: 121,372,951 (GRCm39) |
C593S |
probably damaging |
Het |
Zfp446 |
G |
A |
7: 12,713,252 (GRCm39) |
A97T |
probably damaging |
Het |
|
Other mutations in Catsperg2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00088:Catsperg2
|
APN |
7 |
29,404,829 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL00095:Catsperg2
|
APN |
7 |
29,397,483 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL00902:Catsperg2
|
APN |
7 |
29,400,568 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01667:Catsperg2
|
APN |
7 |
29,409,558 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01791:Catsperg2
|
APN |
7 |
29,404,090 (GRCm39) |
splice site |
probably null |
|
IGL01961:Catsperg2
|
APN |
7 |
29,421,097 (GRCm39) |
splice site |
probably benign |
|
IGL02187:Catsperg2
|
APN |
7 |
29,420,791 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02605:Catsperg2
|
APN |
7 |
29,418,990 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL03001:Catsperg2
|
APN |
7 |
29,424,504 (GRCm39) |
missense |
probably benign |
0.32 |
IGL03228:Catsperg2
|
APN |
7 |
29,397,650 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03239:Catsperg2
|
APN |
7 |
29,397,141 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03247:Catsperg2
|
APN |
7 |
29,416,473 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL03256:Catsperg2
|
APN |
7 |
29,409,299 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4520001:Catsperg2
|
UTSW |
7 |
29,409,586 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0052:Catsperg2
|
UTSW |
7 |
29,424,445 (GRCm39) |
splice site |
probably benign |
|
R0281:Catsperg2
|
UTSW |
7 |
29,405,996 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0357:Catsperg2
|
UTSW |
7 |
29,414,326 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0480:Catsperg2
|
UTSW |
7 |
29,420,723 (GRCm39) |
missense |
probably damaging |
0.98 |
R0578:Catsperg2
|
UTSW |
7 |
29,404,116 (GRCm39) |
missense |
possibly damaging |
0.71 |
R0732:Catsperg2
|
UTSW |
7 |
29,400,121 (GRCm39) |
missense |
probably damaging |
1.00 |
R0826:Catsperg2
|
UTSW |
7 |
29,405,049 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1535:Catsperg2
|
UTSW |
7 |
29,397,671 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1925:Catsperg2
|
UTSW |
7 |
29,397,189 (GRCm39) |
missense |
probably benign |
0.01 |
R1990:Catsperg2
|
UTSW |
7 |
29,420,470 (GRCm39) |
nonsense |
probably null |
|
R3433:Catsperg2
|
UTSW |
7 |
29,400,643 (GRCm39) |
missense |
possibly damaging |
0.71 |
R3721:Catsperg2
|
UTSW |
7 |
29,404,527 (GRCm39) |
missense |
probably benign |
0.02 |
R4020:Catsperg2
|
UTSW |
7 |
29,416,429 (GRCm39) |
missense |
probably damaging |
0.99 |
R4760:Catsperg2
|
UTSW |
7 |
29,405,060 (GRCm39) |
missense |
probably damaging |
0.99 |
R4829:Catsperg2
|
UTSW |
7 |
29,400,550 (GRCm39) |
missense |
probably damaging |
0.98 |
R5033:Catsperg2
|
UTSW |
7 |
29,409,559 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5093:Catsperg2
|
UTSW |
7 |
29,416,423 (GRCm39) |
missense |
probably benign |
0.32 |
R5266:Catsperg2
|
UTSW |
7 |
29,416,491 (GRCm39) |
missense |
probably damaging |
0.98 |
R5267:Catsperg2
|
UTSW |
7 |
29,416,491 (GRCm39) |
missense |
probably damaging |
0.98 |
R5287:Catsperg2
|
UTSW |
7 |
29,397,263 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5427:Catsperg2
|
UTSW |
7 |
29,414,275 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5575:Catsperg2
|
UTSW |
7 |
29,405,015 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5685:Catsperg2
|
UTSW |
7 |
29,400,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R5844:Catsperg2
|
UTSW |
7 |
29,397,257 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5982:Catsperg2
|
UTSW |
7 |
29,412,442 (GRCm39) |
missense |
possibly damaging |
0.51 |
R6662:Catsperg2
|
UTSW |
7 |
29,418,938 (GRCm39) |
start gained |
probably benign |
|
R6744:Catsperg2
|
UTSW |
7 |
29,409,244 (GRCm39) |
missense |
probably benign |
0.23 |
R7171:Catsperg2
|
UTSW |
7 |
29,404,750 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7239:Catsperg2
|
UTSW |
7 |
29,409,507 (GRCm39) |
missense |
probably benign |
0.00 |
R7336:Catsperg2
|
UTSW |
7 |
29,406,026 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7498:Catsperg2
|
UTSW |
7 |
29,416,527 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7548:Catsperg2
|
UTSW |
7 |
29,409,251 (GRCm39) |
missense |
probably benign |
0.32 |
R7562:Catsperg2
|
UTSW |
7 |
29,397,144 (GRCm39) |
missense |
probably benign |
0.18 |
R7565:Catsperg2
|
UTSW |
7 |
29,412,406 (GRCm39) |
missense |
probably null |
0.71 |
R7600:Catsperg2
|
UTSW |
7 |
29,404,283 (GRCm39) |
missense |
probably benign |
0.32 |
R8460:Catsperg2
|
UTSW |
7 |
29,404,744 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8461:Catsperg2
|
UTSW |
7 |
29,404,744 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8751:Catsperg2
|
UTSW |
7 |
29,404,744 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8752:Catsperg2
|
UTSW |
7 |
29,404,744 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8829:Catsperg2
|
UTSW |
7 |
29,397,269 (GRCm39) |
missense |
probably benign |
0.33 |
R8832:Catsperg2
|
UTSW |
7 |
29,397,269 (GRCm39) |
missense |
probably benign |
0.33 |
R9264:Catsperg2
|
UTSW |
7 |
29,397,613 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9284:Catsperg2
|
UTSW |
7 |
29,405,006 (GRCm39) |
critical splice donor site |
probably null |
|
R9468:Catsperg2
|
UTSW |
7 |
29,409,432 (GRCm39) |
critical splice donor site |
probably null |
|
Z1177:Catsperg2
|
UTSW |
7 |
29,397,207 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
Posted On |
2016-08-02 |