Incidental Mutation 'R2037:Catsperb'
| ID |
224825 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Catsperb
|
| Ensembl Gene |
ENSMUSG00000047014 |
| Gene Name |
cation channel sperm associated auxiliary subunit beta |
| Synonyms |
4932415G16Rik |
| MMRRC Submission |
040044-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R2037 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
101370912-101592268 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 101474221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 306
(R306S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152678
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055156]
[ENSMUST00000221241]
|
| AlphaFold |
A2RTF1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055156
AA Change: R306S
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000052089
Gene: ENSMUSG00000047014
AA Change: R306S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
73 |
95 |
N/A |
INTRINSIC |
|
Pfam:CATSPERB
|
569 |
1088 |
1.1e-258 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221241
AA Change: R306S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221965
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
T |
11: 109,980,810 (GRCm39) |
|
probably null |
Het |
| AI987944 |
T |
C |
7: 41,023,815 (GRCm39) |
Y391C |
probably benign |
Het |
| Ankfn1 |
A |
T |
11: 89,346,946 (GRCm39) |
S296T |
probably benign |
Het |
| Apob |
A |
G |
12: 8,057,488 (GRCm39) |
D1957G |
probably benign |
Het |
| Baz1a |
G |
T |
12: 54,976,431 (GRCm39) |
P415Q |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,464,134 (GRCm39) |
H1299Q |
probably benign |
Het |
| C7 |
G |
T |
15: 5,063,720 (GRCm39) |
S227* |
probably null |
Het |
| Cbx3 |
T |
A |
6: 51,448,793 (GRCm39) |
|
probably null |
Het |
| Ccnt2 |
A |
G |
1: 127,731,136 (GRCm39) |
Y671C |
probably damaging |
Het |
| Crocc |
A |
G |
4: 140,774,253 (GRCm39) |
|
probably null |
Het |
| Ctr9 |
G |
A |
7: 110,646,014 (GRCm39) |
V669I |
probably benign |
Het |
| Dck |
T |
G |
5: 88,920,576 (GRCm39) |
Y99D |
probably damaging |
Het |
| Ddx52 |
T |
A |
11: 83,835,432 (GRCm39) |
D119E |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,823,768 (GRCm39) |
K596N |
probably benign |
Het |
| Dnah7a |
A |
T |
1: 53,621,741 (GRCm39) |
V1128E |
probably benign |
Het |
| Dph1 |
A |
T |
11: 75,076,679 (GRCm39) |
|
probably null |
Het |
| Enah |
G |
A |
1: 181,749,537 (GRCm39) |
P415L |
probably damaging |
Het |
| Enthd1 |
A |
G |
15: 80,444,550 (GRCm39) |
S2P |
possibly damaging |
Het |
| Erc1 |
A |
C |
6: 119,699,216 (GRCm39) |
V802G |
possibly damaging |
Het |
| F8 |
ATCTCTCTC |
ATCTCTC |
X: 74,366,604 (GRCm39) |
|
probably null |
Het |
| Fam169a |
C |
A |
13: 97,243,600 (GRCm39) |
A210E |
probably benign |
Het |
| Fcmr |
A |
G |
1: 130,806,070 (GRCm39) |
D342G |
possibly damaging |
Het |
| Fgfr4 |
T |
G |
13: 55,315,702 (GRCm39) |
V743G |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,808,856 (GRCm39) |
D1725G |
probably damaging |
Het |
| Heatr5b |
A |
T |
17: 79,136,934 (GRCm39) |
C195* |
probably null |
Het |
| Herc2 |
G |
A |
7: 55,855,709 (GRCm39) |
A3882T |
probably damaging |
Het |
| Il20 |
T |
A |
1: 130,836,115 (GRCm39) |
N143Y |
probably damaging |
Het |
| Inpp5b |
A |
G |
4: 124,692,092 (GRCm39) |
S892G |
probably damaging |
Het |
| Ipo13 |
A |
T |
4: 117,761,858 (GRCm39) |
Y447* |
probably null |
Het |
| Itprid1 |
A |
G |
6: 55,874,860 (GRCm39) |
N270S |
probably benign |
Het |
| Kbtbd12 |
A |
T |
6: 88,594,779 (GRCm39) |
N350K |
probably benign |
Het |
| Kiz |
T |
C |
2: 146,811,880 (GRCm39) |
F663S |
probably damaging |
Het |
| Matn2 |
A |
G |
15: 34,433,263 (GRCm39) |
D870G |
probably benign |
Het |
| Methig1 |
C |
T |
15: 100,251,467 (GRCm39) |
A126V |
probably benign |
Het |
| Mme |
A |
G |
3: 63,235,681 (GRCm39) |
D209G |
probably null |
Het |
| Mroh4 |
A |
G |
15: 74,481,610 (GRCm39) |
F811L |
possibly damaging |
Het |
| Myo9b |
G |
T |
8: 71,743,510 (GRCm39) |
K190N |
probably damaging |
Het |
| Ncf1 |
T |
C |
5: 134,258,406 (GRCm39) |
I6V |
probably damaging |
Het |
| Nmt2 |
T |
C |
2: 3,310,618 (GRCm39) |
F121L |
probably damaging |
Het |
| Nol10 |
A |
G |
12: 17,411,152 (GRCm39) |
D183G |
probably benign |
Het |
| Nsun7 |
T |
C |
5: 66,418,429 (GRCm39) |
V53A |
probably benign |
Het |
| Or10u4 |
T |
C |
10: 129,802,009 (GRCm39) |
I187V |
probably benign |
Het |
| Or8j3 |
T |
C |
2: 86,028,176 (GRCm39) |
S307G |
probably benign |
Het |
| Or8k22 |
T |
C |
2: 86,162,774 (GRCm39) |
N309D |
probably benign |
Het |
| Pappa2 |
A |
T |
1: 158,784,214 (GRCm39) |
Y265* |
probably null |
Het |
| Pigg |
G |
A |
5: 108,486,518 (GRCm39) |
A724T |
probably damaging |
Het |
| Pik3r4 |
C |
T |
9: 105,527,534 (GRCm39) |
R296C |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,431,617 (GRCm39) |
|
probably null |
Het |
| Pld4 |
A |
G |
12: 112,734,992 (GRCm39) |
D483G |
probably damaging |
Het |
| Ppip5k1 |
C |
T |
2: 121,173,674 (GRCm39) |
R399H |
probably damaging |
Het |
| Qrfpr |
A |
T |
3: 36,236,806 (GRCm39) |
H198Q |
probably damaging |
Het |
| Rasgrf2 |
A |
T |
13: 92,050,748 (GRCm39) |
D883E |
probably damaging |
Het |
| Retnlg |
T |
C |
16: 48,694,615 (GRCm39) |
C88R |
probably damaging |
Het |
| Sin3a |
C |
T |
9: 57,004,109 (GRCm39) |
T287I |
probably benign |
Het |
| Slc44a1 |
GCC |
GCCCCC |
4: 53,563,243 (GRCm39) |
|
probably benign |
Het |
| Sppl2c |
G |
C |
11: 104,077,307 (GRCm39) |
V36L |
probably benign |
Het |
| Srp72 |
T |
A |
5: 77,124,338 (GRCm39) |
I68N |
probably damaging |
Het |
| Srrm3 |
T |
A |
5: 135,883,231 (GRCm39) |
S195R |
probably damaging |
Het |
| Srrm4 |
T |
A |
5: 116,605,887 (GRCm39) |
|
probably benign |
Het |
| Ssb |
A |
G |
2: 69,699,163 (GRCm39) |
S199G |
probably benign |
Het |
| Sult2a6 |
T |
A |
7: 13,988,634 (GRCm39) |
Y42F |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,072,343 (GRCm39) |
T120A |
probably benign |
Het |
| Tas1r1 |
A |
G |
4: 152,112,627 (GRCm39) |
F809L |
probably damaging |
Het |
| Tead3 |
A |
G |
17: 28,555,544 (GRCm39) |
S117P |
probably damaging |
Het |
| Tefm |
C |
T |
11: 80,031,056 (GRCm39) |
R60H |
probably damaging |
Het |
| Tmem104 |
G |
A |
11: 115,092,221 (GRCm39) |
R110H |
possibly damaging |
Het |
| Tnxb |
G |
A |
17: 34,918,179 (GRCm39) |
G2364D |
probably damaging |
Het |
| Vmn1r211 |
T |
A |
13: 23,036,134 (GRCm39) |
I178F |
probably damaging |
Het |
| Vmn1r6 |
A |
T |
6: 56,980,109 (GRCm39) |
Y235F |
probably damaging |
Het |
| Xrcc5 |
C |
A |
1: 72,385,529 (GRCm39) |
T540K |
probably benign |
Het |
|
| Other mutations in Catsperb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00532:Catsperb
|
APN |
12 |
101,429,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00580:Catsperb
|
APN |
12 |
101,557,788 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00661:Catsperb
|
APN |
12 |
101,554,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00979:Catsperb
|
APN |
12 |
101,381,584 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL01154:Catsperb
|
APN |
12 |
101,591,940 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL01360:Catsperb
|
APN |
12 |
101,591,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01607:Catsperb
|
APN |
12 |
101,446,985 (GRCm39) |
splice site |
probably benign |
|
|
IGL01679:Catsperb
|
APN |
12 |
101,557,841 (GRCm39) |
splice site |
probably null |
|
|
IGL01827:Catsperb
|
APN |
12 |
101,557,799 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01866:Catsperb
|
APN |
12 |
101,475,570 (GRCm39) |
nonsense |
probably null |
|
|
IGL02161:Catsperb
|
APN |
12 |
101,375,674 (GRCm39) |
splice site |
probably benign |
|
|
IGL02177:Catsperb
|
APN |
12 |
101,507,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02618:Catsperb
|
APN |
12 |
101,446,983 (GRCm39) |
splice site |
probably benign |
|
|
IGL02721:Catsperb
|
APN |
12 |
101,591,556 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL02828:Catsperb
|
APN |
12 |
101,447,041 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB001:Catsperb
|
UTSW |
12 |
101,486,824 (GRCm39) |
missense |
probably benign |
0.02 |
|
BB011:Catsperb
|
UTSW |
12 |
101,486,824 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0571:Catsperb
|
UTSW |
12 |
101,569,033 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0727:Catsperb
|
UTSW |
12 |
101,560,614 (GRCm39) |
splice site |
probably null |
|
|
R0842:Catsperb
|
UTSW |
12 |
101,429,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1187:Catsperb
|
UTSW |
12 |
101,591,991 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1432:Catsperb
|
UTSW |
12 |
101,588,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1449:Catsperb
|
UTSW |
12 |
101,554,456 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1488:Catsperb
|
UTSW |
12 |
101,560,526 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1540:Catsperb
|
UTSW |
12 |
101,378,589 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1560:Catsperb
|
UTSW |
12 |
101,591,985 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1563:Catsperb
|
UTSW |
12 |
101,554,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1583:Catsperb
|
UTSW |
12 |
101,429,373 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1989:Catsperb
|
UTSW |
12 |
101,568,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1993:Catsperb
|
UTSW |
12 |
101,569,026 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1995:Catsperb
|
UTSW |
12 |
101,569,026 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2186:Catsperb
|
UTSW |
12 |
101,447,041 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2217:Catsperb
|
UTSW |
12 |
101,560,478 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2391:Catsperb
|
UTSW |
12 |
101,590,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2679:Catsperb
|
UTSW |
12 |
101,429,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3848:Catsperb
|
UTSW |
12 |
101,475,585 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4023:Catsperb
|
UTSW |
12 |
101,568,942 (GRCm39) |
nonsense |
probably null |
|
|
R4507:Catsperb
|
UTSW |
12 |
101,447,087 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4558:Catsperb
|
UTSW |
12 |
101,557,799 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4649:Catsperb
|
UTSW |
12 |
101,507,771 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4651:Catsperb
|
UTSW |
12 |
101,507,771 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4866:Catsperb
|
UTSW |
12 |
101,474,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4873:Catsperb
|
UTSW |
12 |
101,554,244 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4875:Catsperb
|
UTSW |
12 |
101,554,244 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4897:Catsperb
|
UTSW |
12 |
101,569,025 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5002:Catsperb
|
UTSW |
12 |
101,486,813 (GRCm39) |
missense |
probably benign |
|
|
R5137:Catsperb
|
UTSW |
12 |
101,516,070 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5396:Catsperb
|
UTSW |
12 |
101,560,543 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5450:Catsperb
|
UTSW |
12 |
101,412,327 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5484:Catsperb
|
UTSW |
12 |
101,542,175 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5846:Catsperb
|
UTSW |
12 |
101,569,025 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5905:Catsperb
|
UTSW |
12 |
101,568,959 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5906:Catsperb
|
UTSW |
12 |
101,476,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6034:Catsperb
|
UTSW |
12 |
101,542,091 (GRCm39) |
missense |
probably benign |
|
|
R6034:Catsperb
|
UTSW |
12 |
101,542,091 (GRCm39) |
missense |
probably benign |
|
|
R6149:Catsperb
|
UTSW |
12 |
101,516,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6165:Catsperb
|
UTSW |
12 |
101,542,075 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6210:Catsperb
|
UTSW |
12 |
101,378,827 (GRCm39) |
splice site |
probably null |
|
|
R6297:Catsperb
|
UTSW |
12 |
101,557,655 (GRCm39) |
splice site |
probably null |
|
|
R6302:Catsperb
|
UTSW |
12 |
101,554,402 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6681:Catsperb
|
UTSW |
12 |
101,590,994 (GRCm39) |
nonsense |
probably null |
|
|
R6698:Catsperb
|
UTSW |
12 |
101,475,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6869:Catsperb
|
UTSW |
12 |
101,446,996 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6948:Catsperb
|
UTSW |
12 |
101,447,327 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7035:Catsperb
|
UTSW |
12 |
101,381,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7073:Catsperb
|
UTSW |
12 |
101,475,497 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7100:Catsperb
|
UTSW |
12 |
101,412,297 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7338:Catsperb
|
UTSW |
12 |
101,447,243 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7397:Catsperb
|
UTSW |
12 |
101,554,282 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7413:Catsperb
|
UTSW |
12 |
101,447,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7422:Catsperb
|
UTSW |
12 |
101,554,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7425:Catsperb
|
UTSW |
12 |
101,557,757 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7578:Catsperb
|
UTSW |
12 |
101,554,544 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7924:Catsperb
|
UTSW |
12 |
101,486,824 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8021:Catsperb
|
UTSW |
12 |
101,554,322 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8060:Catsperb
|
UTSW |
12 |
101,569,025 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8167:Catsperb
|
UTSW |
12 |
101,557,714 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8323:Catsperb
|
UTSW |
12 |
101,375,658 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8425:Catsperb
|
UTSW |
12 |
101,569,028 (GRCm39) |
missense |
probably benign |
|
|
R8547:Catsperb
|
UTSW |
12 |
101,412,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8671:Catsperb
|
UTSW |
12 |
101,560,596 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8906:Catsperb
|
UTSW |
12 |
101,486,904 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9227:Catsperb
|
UTSW |
12 |
101,516,053 (GRCm39) |
missense |
probably benign |
|
|
R9230:Catsperb
|
UTSW |
12 |
101,516,053 (GRCm39) |
missense |
probably benign |
|
|
R9298:Catsperb
|
UTSW |
12 |
101,560,600 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
RF006:Catsperb
|
UTSW |
12 |
101,542,238 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Catsperb
|
UTSW |
12 |
101,412,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAACCGCATCATGCCTTTGC -3'
(R):5'- CTGCCTCTGAGTGGTAAAGG -3'
Sequencing Primer
(F):5'- CTTAGGGACTCTTGGCAATATAATTG -3'
(R):5'- AGGAATGACATGTCTATACCACTAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation