Incidental Mutation 'IGL03001:Catsperg2'
ID |
407308 |
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 # |
IGL03001
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
29396644-29426457 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 29424504 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 95
(S95G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147099
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061193]
[ENSMUST00000207115]
[ENSMUST00000208607]
[ENSMUST00000209126]
[ENSMUST00000208371]
|
AlphaFold |
C6KI89 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000061193
AA Change: S95G
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000052285 Gene: ENSMUSG00000049123 AA Change: S95G
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: ENSMUST00000208607
AA Change: S95G
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209126
AA Change: S95G
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208371
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
A |
C |
7: 78,761,042 (GRCm39) |
D1918A |
probably damaging |
Het |
Ahcy |
C |
A |
2: 154,906,748 (GRCm39) |
D182Y |
probably damaging |
Het |
Aldob |
T |
G |
4: 49,542,844 (GRCm39) |
D110A |
probably damaging |
Het |
Alkbh8 |
A |
T |
9: 3,344,602 (GRCm39) |
M53L |
probably benign |
Het |
Aqr |
T |
C |
2: 113,977,400 (GRCm39) |
D363G |
probably benign |
Het |
Asxl3 |
A |
G |
18: 22,650,455 (GRCm39) |
R815G |
probably damaging |
Het |
Atf4 |
T |
A |
15: 80,140,858 (GRCm39) |
W83R |
probably damaging |
Het |
Baz1a |
A |
T |
12: 54,969,896 (GRCm39) |
M587K |
possibly damaging |
Het |
Btbd8 |
T |
C |
5: 107,645,708 (GRCm39) |
I9T |
probably damaging |
Het |
Cactin |
T |
A |
10: 81,161,568 (GRCm39) |
I700N |
probably damaging |
Het |
Cd1d1 |
C |
T |
3: 86,905,468 (GRCm39) |
S175N |
probably benign |
Het |
Chd4 |
C |
A |
6: 125,078,529 (GRCm39) |
A217E |
possibly damaging |
Het |
Cnbd2 |
T |
C |
2: 156,175,554 (GRCm39) |
|
probably null |
Het |
Cntnap5c |
G |
A |
17: 58,362,634 (GRCm39) |
C329Y |
probably damaging |
Het |
Col12a1 |
C |
T |
9: 79,540,955 (GRCm39) |
G2391R |
probably damaging |
Het |
Col5a3 |
T |
A |
9: 20,719,040 (GRCm39) |
D238V |
unknown |
Het |
Cuedc1 |
T |
C |
11: 88,073,315 (GRCm39) |
V160A |
probably benign |
Het |
Depdc5 |
T |
C |
5: 33,102,434 (GRCm39) |
V342A |
possibly damaging |
Het |
Dnah6 |
T |
C |
6: 73,126,123 (GRCm39) |
D1338G |
probably benign |
Het |
Dpyd |
T |
C |
3: 118,710,891 (GRCm39) |
V433A |
probably benign |
Het |
Epb41l5 |
T |
C |
1: 119,545,374 (GRCm39) |
H179R |
probably damaging |
Het |
Fbf1 |
T |
C |
11: 116,056,712 (GRCm39) |
|
probably benign |
Het |
Flnb |
T |
C |
14: 7,934,680 (GRCm38) |
S2251P |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,820,968 (GRCm39) |
|
probably benign |
Het |
Grin2b |
C |
T |
6: 135,716,113 (GRCm39) |
V735M |
probably damaging |
Het |
Itpr3 |
T |
G |
17: 27,308,586 (GRCm39) |
|
probably benign |
Het |
Lingo4 |
C |
T |
3: 94,309,703 (GRCm39) |
R214C |
probably damaging |
Het |
Lrp1b |
C |
T |
2: 40,817,901 (GRCm39) |
R2329H |
probably damaging |
Het |
Lrrc47 |
T |
C |
4: 154,100,450 (GRCm39) |
L342P |
probably damaging |
Het |
Mmp15 |
T |
C |
8: 96,094,845 (GRCm39) |
S240P |
probably damaging |
Het |
Ndufaf4 |
T |
A |
4: 24,901,747 (GRCm39) |
N95K |
probably benign |
Het |
Nms |
C |
T |
1: 38,980,993 (GRCm39) |
P60S |
probably benign |
Het |
Npas3 |
A |
T |
12: 53,547,975 (GRCm39) |
Y77F |
probably damaging |
Het |
Or2ak7 |
T |
G |
11: 58,574,702 (GRCm39) |
M1R |
probably null |
Het |
Or51f5 |
G |
T |
7: 102,424,460 (GRCm39) |
C243F |
probably damaging |
Het |
Or5d43 |
T |
A |
2: 88,105,189 (GRCm39) |
D68V |
probably damaging |
Het |
Or8d2b |
A |
G |
9: 38,789,374 (GRCm39) |
M301V |
probably benign |
Het |
Or9m2 |
T |
A |
2: 87,820,493 (GRCm39) |
Y13N |
probably benign |
Het |
Or9s27 |
T |
A |
1: 92,516,273 (GRCm39) |
S74T |
probably damaging |
Het |
Picalm |
T |
C |
7: 89,831,454 (GRCm39) |
V429A |
probably benign |
Het |
Pkhd1l1 |
T |
A |
15: 44,421,400 (GRCm39) |
I3056N |
probably damaging |
Het |
Pomt1 |
G |
T |
2: 32,134,338 (GRCm39) |
M286I |
probably benign |
Het |
Popdc2 |
A |
T |
16: 38,189,881 (GRCm39) |
Y176F |
probably benign |
Het |
Psg21 |
A |
T |
7: 18,386,410 (GRCm39) |
M192K |
probably benign |
Het |
Psma1 |
C |
A |
7: 113,865,674 (GRCm39) |
A219S |
probably benign |
Het |
Rad21l |
T |
G |
2: 151,510,389 (GRCm39) |
H22P |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,370,767 (GRCm39) |
T4791A |
probably damaging |
Het |
Sdk2 |
A |
G |
11: 113,712,452 (GRCm39) |
V1609A |
probably benign |
Het |
Sema3e |
T |
A |
5: 14,291,057 (GRCm39) |
S606T |
probably benign |
Het |
Slc16a4 |
A |
T |
3: 107,218,858 (GRCm39) |
R486S |
possibly damaging |
Het |
Slc17a3 |
T |
C |
13: 24,040,767 (GRCm39) |
L331P |
probably damaging |
Het |
Slc38a11 |
A |
T |
2: 65,184,159 (GRCm39) |
V164D |
probably damaging |
Het |
Slc38a6 |
A |
G |
12: 73,383,827 (GRCm39) |
I173V |
probably benign |
Het |
Synpo2 |
T |
C |
3: 122,873,604 (GRCm39) |
T1121A |
probably benign |
Het |
Tfcp2 |
T |
C |
15: 100,426,302 (GRCm39) |
D83G |
possibly damaging |
Het |
Thnsl1 |
A |
G |
2: 21,216,455 (GRCm39) |
T70A |
probably damaging |
Het |
Tnfrsf21 |
A |
G |
17: 43,398,786 (GRCm39) |
I631V |
probably damaging |
Het |
Tor2a |
C |
A |
2: 32,647,329 (GRCm39) |
H6Q |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,565,267 (GRCm39) |
N19993S |
probably benign |
Het |
Vps53 |
T |
C |
11: 76,029,150 (GRCm39) |
E119G |
probably damaging |
Het |
Zkscan6 |
T |
C |
11: 65,705,495 (GRCm39) |
W69R |
probably damaging |
Het |
Zng1 |
T |
C |
19: 24,900,002 (GRCm39) |
K301E |
probably benign |
Het |
Zswim8 |
T |
C |
14: 20,764,459 (GRCm39) |
S610P |
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 |
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 |
IGL03242:Catsperg2
|
APN |
7 |
29,424,904 (GRCm39) |
unclassified |
probably benign |
|
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 |