Incidental Mutation 'IGL02413:Catsper1'
| ID |
292326 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Catsper1
|
| Ensembl Gene |
ENSMUSG00000038498 |
| Gene Name |
cation channel, sperm associated 1 |
| Synonyms |
KSper |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
IGL02413
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
5385769-5394308 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5386264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 166
(S166P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045430
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043380]
|
| AlphaFold |
Q91ZR5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043380
AA Change: S166P
PolyPhen 2
Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000045430
Gene: ENSMUSG00000038498
AA Change: S166P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
141 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
225 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
308 |
321 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
347 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
350 |
584 |
1.7e-34 |
PFAM |
|
Pfam:PKD_channel
|
439 |
583 |
6.5e-7 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-spanning segments and a predicted calcium-selective pore region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit sperm with markedly decreased motility that are unable to fertilize ova and lack a calcium ion influx response to cyclic-AMP. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
C |
A |
16: 20,241,187 (GRCm39) |
|
probably benign |
Het |
| Afap1l1 |
A |
G |
18: 61,866,860 (GRCm39) |
L733P |
probably benign |
Het |
| Aqr |
G |
A |
2: 113,949,261 (GRCm39) |
A979V |
possibly damaging |
Het |
| Axin1 |
A |
G |
17: 26,407,153 (GRCm39) |
E582G |
probably benign |
Het |
| Cd248 |
G |
T |
19: 5,120,201 (GRCm39) |
G683V |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,915,427 (GRCm39) |
Q849K |
possibly damaging |
Het |
| Ctnnal1 |
C |
A |
4: 56,835,306 (GRCm39) |
V324F |
probably benign |
Het |
| Ctrc |
C |
A |
4: 141,571,028 (GRCm39) |
V71L |
possibly damaging |
Het |
| Exoc3l |
C |
A |
8: 106,019,070 (GRCm39) |
D465Y |
probably damaging |
Het |
| Flna |
T |
C |
X: 73,284,888 (GRCm39) |
E417G |
probably benign |
Het |
| Grm6 |
T |
A |
11: 50,750,766 (GRCm39) |
V643D |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,759,800 (GRCm39) |
Y615C |
probably benign |
Het |
| Itga3 |
T |
C |
11: 94,959,597 (GRCm39) |
Y92C |
probably damaging |
Het |
| Jak3 |
T |
C |
8: 72,138,763 (GRCm39) |
|
probably null |
Het |
| Kcnh6 |
T |
A |
11: 105,918,460 (GRCm39) |
I823N |
possibly damaging |
Het |
| Klhl38 |
A |
T |
15: 58,186,417 (GRCm39) |
V104D |
probably damaging |
Het |
| Lpo |
C |
T |
11: 87,697,732 (GRCm39) |
V692M |
possibly damaging |
Het |
| Mnd1 |
T |
C |
3: 84,023,786 (GRCm39) |
H100R |
probably benign |
Het |
| Mterf4 |
A |
G |
1: 93,230,526 (GRCm39) |
F207L |
probably damaging |
Het |
| Oog3 |
C |
A |
4: 143,884,721 (GRCm39) |
W405L |
probably benign |
Het |
| Or2t26 |
T |
C |
11: 49,039,384 (GRCm39) |
L100P |
probably damaging |
Het |
| Ptpn3 |
A |
G |
4: 57,205,020 (GRCm39) |
Y714H |
probably damaging |
Het |
| Spata31f3 |
T |
C |
4: 42,868,549 (GRCm39) |
D358G |
probably damaging |
Het |
| Steap3 |
T |
C |
1: 120,169,502 (GRCm39) |
Y265C |
probably damaging |
Het |
| Tcl1 |
C |
A |
12: 105,185,082 (GRCm39) |
E43* |
probably null |
Het |
| Terb1 |
A |
G |
8: 105,221,500 (GRCm39) |
|
probably null |
Het |
| Tmprss11a |
T |
A |
5: 86,570,507 (GRCm39) |
I151F |
possibly damaging |
Het |
| Trappc10 |
T |
C |
10: 78,046,610 (GRCm39) |
R430G |
probably damaging |
Het |
| Usp17le |
T |
C |
7: 104,418,933 (GRCm39) |
N70D |
probably benign |
Het |
| Vmn1r45 |
T |
C |
6: 89,910,503 (GRCm39) |
S36G |
possibly damaging |
Het |
| Vsig8 |
A |
C |
1: 172,387,943 (GRCm39) |
Y11S |
probably damaging |
Het |
| Vwa5b2 |
T |
A |
16: 20,416,851 (GRCm39) |
L516Q |
probably damaging |
Het |
|
| Other mutations in Catsper1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01084:Catsper1
|
APN |
19 |
5,387,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01361:Catsper1
|
APN |
19 |
5,389,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02560:Catsper1
|
APN |
19 |
5,386,216 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03335:Catsper1
|
APN |
19 |
5,386,339 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0002:Catsper1
|
UTSW |
19 |
5,391,551 (GRCm39) |
splice site |
probably benign |
|
|
R0164:Catsper1
|
UTSW |
19 |
5,389,503 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0164:Catsper1
|
UTSW |
19 |
5,389,503 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0324:Catsper1
|
UTSW |
19 |
5,386,573 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1782:Catsper1
|
UTSW |
19 |
5,385,937 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2301:Catsper1
|
UTSW |
19 |
5,390,426 (GRCm39) |
missense |
probably benign |
0.41 |
|
R3864:Catsper1
|
UTSW |
19 |
5,386,204 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4808:Catsper1
|
UTSW |
19 |
5,394,164 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4941:Catsper1
|
UTSW |
19 |
5,391,466 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4983:Catsper1
|
UTSW |
19 |
5,385,991 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5072:Catsper1
|
UTSW |
19 |
5,390,074 (GRCm39) |
splice site |
probably null |
|
|
R5077:Catsper1
|
UTSW |
19 |
5,385,998 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5629:Catsper1
|
UTSW |
19 |
5,386,165 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6402:Catsper1
|
UTSW |
19 |
5,389,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6875:Catsper1
|
UTSW |
19 |
5,393,991 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7368:Catsper1
|
UTSW |
19 |
5,386,691 (GRCm39) |
missense |
unknown |
|
|
R7510:Catsper1
|
UTSW |
19 |
5,389,578 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8837:Catsper1
|
UTSW |
19 |
5,386,070 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9033:Catsper1
|
UTSW |
19 |
5,387,864 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9129:Catsper1
|
UTSW |
19 |
5,390,402 (GRCm39) |
splice site |
probably benign |
|
|
R9210:Catsper1
|
UTSW |
19 |
5,391,535 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9429:Catsper1
|
UTSW |
19 |
5,389,755 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9489:Catsper1
|
UTSW |
19 |
5,387,785 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9605:Catsper1
|
UTSW |
19 |
5,387,785 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1177:Catsper1
|
UTSW |
19 |
5,393,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation