Incidental Mutation 'R9284:Catsperg2'
| ID |
703813 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R9284 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
29396644-29426457 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 29405006 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 |
probably benign
Transcript: ENSMUST00000208371
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208607
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000209126
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
T |
G |
4: 144,504,191 (GRCm39) |
Q320P |
probably damaging |
Het |
| Adamtsl2 |
G |
A |
2: 26,994,055 (GRCm39) |
|
probably benign |
Het |
| Adgrl3 |
T |
A |
5: 81,657,568 (GRCm39) |
|
probably benign |
Het |
| Angptl3 |
A |
G |
4: 98,919,480 (GRCm39) |
Q80R |
probably benign |
Het |
| Atmin |
G |
A |
8: 117,684,019 (GRCm39) |
V560M |
probably benign |
Het |
| Bbx |
A |
G |
16: 50,045,023 (GRCm39) |
S513P |
probably benign |
Het |
| Cacng8 |
C |
A |
7: 3,459,746 (GRCm39) |
Y112* |
probably null |
Het |
| Ccdc12 |
A |
C |
9: 110,540,203 (GRCm39) |
T131P |
probably damaging |
Het |
| Cdh23 |
G |
A |
10: 60,143,306 (GRCm39) |
A3005V |
possibly damaging |
Het |
| Cep95 |
A |
T |
11: 106,704,624 (GRCm39) |
H493L |
probably benign |
Het |
| Cntnap1 |
A |
G |
11: 101,068,137 (GRCm39) |
T50A |
probably benign |
Het |
| Cyp3a16 |
T |
A |
5: 145,377,304 (GRCm39) |
I428F |
probably damaging |
Het |
| Dnhd1 |
G |
T |
7: 105,301,091 (GRCm39) |
L149F |
probably damaging |
Het |
| Dop1b |
T |
A |
16: 93,557,196 (GRCm39) |
V497E |
probably damaging |
Het |
| Erich3 |
A |
T |
3: 154,404,308 (GRCm39) |
N55I |
|
Het |
| Fbxw26 |
A |
T |
9: 109,550,962 (GRCm39) |
|
probably benign |
Het |
| Gm4841 |
A |
G |
18: 60,403,895 (GRCm39) |
I66T |
probably damaging |
Het |
| Gp5 |
G |
A |
16: 30,127,094 (GRCm39) |
L527F |
probably damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,883 (GRCm39) |
G22D |
probably benign |
Het |
| Isg20l2 |
T |
A |
3: 87,838,991 (GRCm39) |
D67E |
probably benign |
Het |
| Itgae |
G |
A |
11: 73,012,752 (GRCm39) |
V695I |
probably benign |
Het |
| Itpr2 |
A |
T |
6: 146,256,174 (GRCm39) |
N1006K |
probably benign |
Het |
| Iws1 |
G |
A |
18: 32,213,213 (GRCm39) |
E214K |
possibly damaging |
Het |
| Lama3 |
C |
T |
18: 12,583,541 (GRCm39) |
Q710* |
probably null |
Het |
| Loxhd1 |
C |
T |
18: 77,501,826 (GRCm39) |
A1715V |
probably damaging |
Het |
| Map3k20 |
C |
T |
2: 72,228,755 (GRCm39) |
Q325* |
probably null |
Het |
| Med1 |
A |
T |
11: 98,046,366 (GRCm39) |
S1477T |
unknown |
Het |
| Mr1 |
T |
A |
1: 155,013,274 (GRCm39) |
H101L |
probably benign |
Het |
| Mtor |
T |
A |
4: 148,543,537 (GRCm39) |
S405T |
probably benign |
Het |
| Nme9 |
G |
C |
9: 99,338,321 (GRCm39) |
|
probably null |
Het |
| Nom1 |
T |
A |
5: 29,647,532 (GRCm39) |
I589N |
probably damaging |
Het |
| Nr6a1 |
A |
T |
2: 38,638,890 (GRCm39) |
D148E |
probably damaging |
Het |
| Nup160 |
T |
C |
2: 90,548,375 (GRCm39) |
V1006A |
possibly damaging |
Het |
| Or2ag1b |
A |
T |
7: 106,288,416 (GRCm39) |
I174N |
possibly damaging |
Het |
| Or2aj4 |
A |
G |
16: 19,385,357 (GRCm39) |
I92T |
probably damaging |
Het |
| Or4d10b |
A |
T |
19: 12,036,273 (GRCm39) |
L281Q |
probably damaging |
Het |
| Or5d37 |
T |
A |
2: 87,924,278 (GRCm39) |
M1L |
probably benign |
Het |
| Or6c200-ps1 |
G |
A |
10: 128,869,821 (GRCm39) |
P297S |
probably damaging |
Het |
| Phyhd1 |
G |
T |
2: 30,156,879 (GRCm39) |
G7* |
probably null |
Het |
| Pla2g4e |
T |
C |
2: 120,004,730 (GRCm39) |
|
probably benign |
Het |
| Ppfia3 |
A |
G |
7: 45,011,222 (GRCm39) |
C3R |
probably damaging |
Het |
| Pramel1 |
T |
C |
4: 143,123,769 (GRCm39) |
V148A |
probably benign |
Het |
| Ptpdc1 |
A |
T |
13: 48,740,167 (GRCm39) |
D421E |
probably benign |
Het |
| Rapgef2 |
A |
T |
3: 79,000,010 (GRCm39) |
D579E |
probably damaging |
Het |
| Rbpj |
T |
G |
5: 53,810,724 (GRCm39) |
V448G |
probably damaging |
Het |
| Rif1 |
T |
C |
2: 51,998,564 (GRCm39) |
V1067A |
probably benign |
Het |
| Scfd1 |
A |
T |
12: 51,439,024 (GRCm39) |
N162I |
probably benign |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Sp110 |
A |
T |
1: 85,507,363 (GRCm39) |
|
probably null |
Het |
| Sparcl1 |
A |
T |
5: 104,236,345 (GRCm39) |
C469* |
probably null |
Het |
| Srebf2 |
G |
A |
15: 82,066,357 (GRCm39) |
R635Q |
probably benign |
Het |
| Stard7 |
T |
G |
2: 127,132,956 (GRCm39) |
S250A |
probably damaging |
Het |
| Stxbp5l |
A |
C |
16: 37,028,442 (GRCm39) |
Y540* |
probably null |
Het |
| Tlr5 |
T |
C |
1: 182,801,377 (GRCm39) |
V227A |
probably benign |
Het |
| Tmem132b |
T |
C |
5: 125,864,711 (GRCm39) |
I939T |
possibly damaging |
Het |
| Tnik |
G |
T |
3: 28,593,570 (GRCm39) |
S142I |
unknown |
Het |
| Trim6 |
A |
G |
7: 103,882,116 (GRCm39) |
T482A |
probably damaging |
Het |
| Tssk5 |
A |
G |
15: 76,257,168 (GRCm39) |
I238T |
probably benign |
Het |
| Ugt2b35 |
A |
G |
5: 87,156,140 (GRCm39) |
T411A |
probably benign |
Het |
| Zc2hc1b |
C |
A |
10: 13,043,562 (GRCm39) |
R111L |
probably benign |
Het |
| Zfp266 |
A |
T |
9: 20,411,300 (GRCm39) |
C292* |
probably null |
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 |
|
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 |
|
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'- TAAACCAGTTGCCCTTGTCTAG -3'
(R):5'- GGGCTGGGTGATTATCTCCTAC -3'
Sequencing Primer
(F):5'- AGTCACCCGACATGTTGTAG -3'
(R):5'- ACTTCGGTCTATGAGCTAACTG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation