Incidental Mutation 'R0357:Catsperg2'
| ID |
29881 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Catsperg2
|
| Ensembl Gene |
ENSMUSG00000049123 |
| Gene Name |
cation channel sperm associated auxiliary subunit gamma 2 |
| Synonyms |
CATSPERG, 1700067C01Rik |
| MMRRC Submission |
038563-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R0357 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
29396644-29426457 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29414326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 360
(Y360N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147099
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061193]
[ENSMUST00000207115]
[ENSMUST00000208371]
[ENSMUST00000208607]
[ENSMUST00000209126]
|
| AlphaFold |
C6KI89 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061193
AA Change: Y360N
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000052285
Gene: ENSMUSG00000049123
AA Change: Y360N
| 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 |
possibly damaging
Transcript: ENSMUST00000207115
AA Change: Y240N
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000208607
AA Change: Y360N
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209126
AA Change: Y360N
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.4660 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 95.3%
- 20x: 89.3%
|
| Validation Efficiency |
99% (74/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf2 |
T |
C |
5: 24,778,463 (GRCm39) |
K232E |
probably benign |
Het |
| AI837181 |
C |
T |
19: 5,476,731 (GRCm39) |
T298I |
possibly damaging |
Het |
| Alox12 |
T |
C |
11: 70,133,362 (GRCm39) |
Y614C |
probably damaging |
Het |
| Amn |
A |
T |
12: 111,240,575 (GRCm39) |
|
probably null |
Het |
| Ankrd33b |
A |
G |
15: 31,305,272 (GRCm39) |
S121P |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,131,675 (GRCm39) |
Y1028C |
probably damaging |
Het |
| Asph |
C |
A |
4: 9,453,314 (GRCm39) |
R736L |
probably benign |
Het |
| Atp2a3 |
G |
A |
11: 72,861,757 (GRCm39) |
|
probably null |
Het |
| Cables2 |
T |
C |
2: 179,904,025 (GRCm39) |
|
probably benign |
Het |
| Cdh4 |
T |
C |
2: 179,489,133 (GRCm39) |
S282P |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,719,064 (GRCm39) |
|
probably benign |
Het |
| Ctso |
A |
T |
3: 81,858,850 (GRCm39) |
|
probably benign |
Het |
| Cyp4f13 |
A |
T |
17: 33,151,625 (GRCm39) |
Y125* |
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,877,372 (GRCm39) |
L537* |
probably null |
Het |
| Ddit4l |
G |
A |
3: 137,331,946 (GRCm39) |
R104Q |
probably benign |
Het |
| Def6 |
C |
T |
17: 28,442,909 (GRCm39) |
H322Y |
probably damaging |
Het |
| Dnaaf9 |
A |
T |
2: 130,554,866 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,165,342 (GRCm39) |
N588D |
probably benign |
Het |
| Dzip1 |
T |
A |
14: 119,146,950 (GRCm39) |
I320F |
probably damaging |
Het |
| Epb41l5 |
T |
C |
1: 119,536,934 (GRCm39) |
H319R |
probably damaging |
Het |
| Erc2 |
A |
G |
14: 27,498,979 (GRCm39) |
E285G |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 38,945,376 (GRCm39) |
G1423E |
probably damaging |
Het |
| Foxp2 |
C |
T |
6: 15,409,839 (GRCm39) |
P480S |
probably damaging |
Het |
| Gadd45gip1 |
G |
A |
8: 85,560,762 (GRCm39) |
A126T |
probably damaging |
Het |
| Gbp5 |
G |
A |
3: 142,211,172 (GRCm39) |
D301N |
probably benign |
Het |
| Gm10360 |
T |
C |
6: 70,401,297 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6471 |
T |
A |
7: 142,387,604 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8674 |
T |
A |
13: 50,056,149 (GRCm39) |
|
noncoding transcript |
Het |
| H2bc18 |
A |
C |
3: 96,177,104 (GRCm39) |
K13Q |
probably null |
Het |
| Ift172 |
A |
G |
5: 31,415,244 (GRCm39) |
S1322P |
possibly damaging |
Het |
| Ift80 |
A |
T |
3: 68,821,986 (GRCm39) |
Y686* |
probably null |
Het |
| Insrr |
A |
C |
3: 87,715,953 (GRCm39) |
|
probably null |
Het |
| Itprid1 |
T |
A |
6: 55,945,019 (GRCm39) |
M580K |
probably benign |
Het |
| Krt87 |
C |
T |
15: 101,384,900 (GRCm39) |
V399M |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,351,776 (GRCm39) |
N3708S |
probably damaging |
Het |
| Matcap1 |
A |
T |
8: 106,011,699 (GRCm39) |
V222E |
probably damaging |
Het |
| Mogat1 |
T |
C |
1: 78,488,677 (GRCm39) |
S27P |
probably benign |
Het |
| Mrgpra4 |
A |
T |
7: 47,631,574 (GRCm39) |
M9K |
probably benign |
Het |
| Mtus1 |
A |
T |
8: 41,536,563 (GRCm39) |
S384R |
possibly damaging |
Het |
| Myo1a |
T |
A |
10: 127,546,771 (GRCm39) |
M306K |
probably benign |
Het |
| Noxa1 |
G |
T |
2: 24,975,862 (GRCm39) |
D403E |
probably damaging |
Het |
| Ogdhl |
T |
C |
14: 32,068,415 (GRCm39) |
V884A |
possibly damaging |
Het |
| Or10ak12 |
A |
C |
4: 118,666,614 (GRCm39) |
L149R |
probably damaging |
Het |
| Or2y1f |
A |
G |
11: 49,184,613 (GRCm39) |
N155S |
probably damaging |
Het |
| Or6k4 |
T |
A |
1: 173,964,865 (GRCm39) |
L185* |
probably null |
Het |
| Or6n1 |
T |
C |
1: 173,916,675 (GRCm39) |
V23A |
possibly damaging |
Het |
| Paxip1 |
G |
A |
5: 27,963,621 (GRCm39) |
|
probably benign |
Het |
| Paxx |
T |
A |
2: 25,350,079 (GRCm39) |
E145D |
probably damaging |
Het |
| Pde4d |
T |
C |
13: 110,087,802 (GRCm39) |
V560A |
possibly damaging |
Het |
| Pheta2 |
C |
T |
15: 82,227,517 (GRCm39) |
A12V |
probably damaging |
Het |
| Plxnd1 |
C |
T |
6: 115,946,421 (GRCm39) |
V847M |
probably benign |
Het |
| Polk |
T |
A |
13: 96,641,105 (GRCm39) |
M151L |
probably damaging |
Het |
| Ptprq |
C |
T |
10: 107,522,060 (GRCm39) |
|
probably benign |
Het |
| Pum2 |
A |
G |
12: 8,771,785 (GRCm39) |
Q371R |
possibly damaging |
Het |
| Reln |
G |
A |
5: 22,155,820 (GRCm39) |
A2224V |
probably damaging |
Het |
| Rmc1 |
T |
C |
18: 12,312,266 (GRCm39) |
S169P |
possibly damaging |
Het |
| Scart1 |
T |
G |
7: 139,807,808 (GRCm39) |
C660G |
probably damaging |
Het |
| Shroom1 |
A |
G |
11: 53,356,035 (GRCm39) |
T362A |
probably damaging |
Het |
| Smarcd2 |
A |
G |
11: 106,158,158 (GRCm39) |
|
probably null |
Het |
| Spg11 |
A |
C |
2: 121,896,713 (GRCm39) |
|
probably benign |
Het |
| Tcaf3 |
T |
A |
6: 42,566,761 (GRCm39) |
Y776F |
probably damaging |
Het |
| Thada |
A |
G |
17: 84,538,364 (GRCm39) |
V1548A |
probably damaging |
Het |
| Trpv2 |
C |
T |
11: 62,481,130 (GRCm39) |
P410S |
probably damaging |
Het |
| Ube2u |
G |
T |
4: 100,338,851 (GRCm39) |
E39* |
probably null |
Het |
| Ulbp3 |
A |
T |
10: 3,070,307 (GRCm39) |
|
noncoding transcript |
Het |
| Ulbp3 |
A |
G |
10: 3,075,788 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r2 |
C |
T |
3: 64,041,320 (GRCm39) |
|
probably null |
Het |
| Vmn2r24 |
TCC |
TC |
6: 123,792,369 (GRCm39) |
|
probably null |
Het |
| Wdr87-ps |
A |
T |
7: 29,235,007 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp110 |
A |
G |
7: 12,570,302 (GRCm39) |
Y43C |
probably damaging |
Het |
| Zfp605 |
A |
G |
5: 110,272,245 (GRCm39) |
T55A |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAACTTTGAGCCTGCCACCTC -3'
(R):5'- ACAAAAGTGACAGGTGTTGCTCTGG -3'
Sequencing Primer
(F):5'- CTCCTGAGGACACATGGCAAG -3'
(R):5'- ACATGTTGCTCCAGGCTAAG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation