Incidental Mutation 'R7600:Catsperg2'
| ID |
587966 |
| 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 |
045642-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R7600 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
29396644-29426457 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29404283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 831
(S831T)
|
| 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
AA Change: S831T
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000052285
Gene: ENSMUSG00000049123
AA Change: S831T
| 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
AA Change: S658T
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208371
AA Change: S199T
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208607
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209126
AA Change: S831T
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
G |
A |
8: 41,208,854 (GRCm39) |
V707I |
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,981,938 (GRCm39) |
D1074V |
possibly damaging |
Het |
| Aldh4a1 |
A |
G |
4: 139,372,315 (GRCm39) |
M495V |
probably benign |
Het |
| Atxn1 |
T |
G |
13: 45,710,536 (GRCm39) |
K799Q |
possibly damaging |
Het |
| Cldn1 |
T |
C |
16: 26,179,669 (GRCm39) |
T133A |
probably benign |
Het |
| Clec12b |
A |
G |
6: 129,353,226 (GRCm39) |
C254R |
probably damaging |
Het |
| Cnnm2 |
A |
T |
19: 46,750,506 (GRCm39) |
T99S |
probably benign |
Het |
| Col6a4 |
T |
G |
9: 105,944,198 (GRCm39) |
D1092A |
possibly damaging |
Het |
| Dnajc9 |
A |
G |
14: 20,438,793 (GRCm39) |
L20P |
probably damaging |
Het |
| Dsp |
C |
A |
13: 38,375,691 (GRCm39) |
Q1159K |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,306,011 (GRCm39) |
T4110I |
probably damaging |
Het |
| Epb42 |
A |
G |
2: 120,852,307 (GRCm39) |
L562P |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,832,295 (GRCm39) |
Y1543H |
probably damaging |
Het |
| Igkv1-117 |
T |
A |
6: 68,098,100 (GRCm39) |
V9E |
possibly damaging |
Het |
| Kbtbd8 |
T |
A |
6: 95,099,573 (GRCm39) |
Y361N |
probably damaging |
Het |
| Lrp1 |
C |
T |
10: 127,391,575 (GRCm39) |
R2948H |
probably benign |
Het |
| Lrp10 |
G |
T |
14: 54,706,852 (GRCm39) |
R563L |
possibly damaging |
Het |
| Mllt3 |
G |
T |
4: 87,759,456 (GRCm39) |
H197Q |
probably benign |
Het |
| Myo18b |
G |
A |
5: 113,025,969 (GRCm39) |
P27L |
unknown |
Het |
| Nlrp1a |
C |
A |
11: 70,989,740 (GRCm39) |
R1110L |
probably damaging |
Het |
| Nol10 |
T |
G |
12: 17,419,481 (GRCm39) |
D257E |
probably damaging |
Het |
| Olfm3 |
T |
C |
3: 114,890,589 (GRCm39) |
V114A |
possibly damaging |
Het |
| Or2a57 |
C |
A |
6: 43,212,770 (GRCm39) |
T76K |
probably damaging |
Het |
| Or2t43 |
T |
C |
11: 58,458,162 (GRCm39) |
N3S |
probably benign |
Het |
| Pdzd2 |
G |
T |
15: 12,372,820 (GRCm39) |
D2438E |
probably damaging |
Het |
| Prl7a2 |
T |
G |
13: 27,843,264 (GRCm39) |
I180L |
possibly damaging |
Het |
| Ptch2 |
A |
T |
4: 116,953,422 (GRCm39) |
|
probably benign |
Het |
| Snrpn |
A |
G |
7: 59,638,351 (GRCm39) |
M1T |
probably null |
Het |
| Sntb1 |
A |
T |
15: 55,655,584 (GRCm39) |
W211R |
possibly damaging |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Sytl2 |
T |
C |
7: 90,025,352 (GRCm39) |
S447P |
probably benign |
Het |
| Tas2r129 |
G |
T |
6: 132,928,137 (GRCm39) |
G25* |
probably null |
Het |
| Tcstv7a |
A |
T |
13: 120,290,232 (GRCm39) |
|
probably null |
Het |
| Tle2 |
T |
G |
10: 81,422,147 (GRCm39) |
Y396* |
probably null |
Het |
| Trpm2 |
T |
C |
10: 77,773,885 (GRCm39) |
K510R |
probably benign |
Het |
| Trpm3 |
A |
G |
19: 22,903,458 (GRCm39) |
T1073A |
possibly damaging |
Het |
| Ttc24 |
A |
T |
3: 87,979,320 (GRCm39) |
M1K |
probably null |
Het |
| Tubgcp5 |
A |
G |
7: 55,458,261 (GRCm39) |
T391A |
probably benign |
Het |
| Vmn1r17 |
T |
C |
6: 57,337,906 (GRCm39) |
E153G |
probably benign |
Het |
| Vmn1r232 |
A |
T |
17: 21,133,999 (GRCm39) |
N200K |
possibly damaging |
Het |
| Zcwpw1 |
A |
T |
5: 137,798,396 (GRCm39) |
K198* |
probably null |
Het |
| Zfp142 |
A |
G |
1: 74,612,827 (GRCm39) |
V641A |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,695,210 (GRCm39) |
A149V |
possibly damaging |
Het |
| Zfp608 |
T |
C |
18: 55,121,092 (GRCm39) |
N165S |
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 |
|
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 |
|
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'- TACGTGCGCTGGATGCAATTC -3'
(R):5'- CAACGCAGTGATCAACAAGG -3'
Sequencing Primer
(F):5'- TGGATGCAATTCCCAGGAGC -3'
(R):5'- TCAACAAGGTGAGGACGCC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation