Incidental Mutation 'IGL03335:Catsper1'
ID |
416999 |
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: 0.163)
|
Stock # |
IGL03335
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
5385769-5394308 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 5386339 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 191
(R191C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045430
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043380]
|
AlphaFold |
Q91ZR5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043380
AA Change: R191C
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000045430 Gene: ENSMUSG00000038498 AA Change: R191C
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
T |
C |
5: 8,985,258 (GRCm39) |
V713A |
probably benign |
Het |
Abtb3 |
A |
T |
10: 85,494,222 (GRCm39) |
|
probably benign |
Het |
Actr8 |
T |
C |
14: 29,700,514 (GRCm39) |
V31A |
probably benign |
Het |
Alcam |
A |
C |
16: 52,111,366 (GRCm39) |
Y244* |
probably null |
Het |
Ankrd24 |
A |
G |
10: 81,482,967 (GRCm39) |
S972G |
probably benign |
Het |
Aox1 |
T |
A |
1: 58,115,319 (GRCm39) |
V768E |
probably damaging |
Het |
Carmil2 |
A |
G |
8: 106,423,661 (GRCm39) |
I1212V |
probably benign |
Het |
Cenpe |
T |
A |
3: 134,949,386 (GRCm39) |
V57D |
probably benign |
Het |
Cpsf3 |
T |
C |
12: 21,356,888 (GRCm39) |
|
probably null |
Het |
Cubn |
A |
G |
2: 13,365,140 (GRCm39) |
S1633P |
probably damaging |
Het |
Dsg1c |
G |
A |
18: 20,416,754 (GRCm39) |
R885Q |
probably benign |
Het |
Egfl6 |
C |
A |
X: 165,321,689 (GRCm39) |
G272W |
probably damaging |
Het |
Ermard |
T |
C |
17: 15,279,668 (GRCm39) |
L486P |
probably damaging |
Het |
F13b |
A |
T |
1: 139,450,124 (GRCm39) |
L595F |
probably damaging |
Het |
Foxm1 |
A |
G |
6: 128,349,531 (GRCm39) |
N350S |
possibly damaging |
Het |
Fras1 |
T |
C |
5: 96,881,803 (GRCm39) |
|
probably benign |
Het |
Gpr152 |
C |
A |
19: 4,193,770 (GRCm39) |
T437N |
possibly damaging |
Het |
Icmt |
T |
A |
4: 152,385,154 (GRCm39) |
Y205* |
probably null |
Het |
Ints8 |
A |
T |
4: 11,216,460 (GRCm39) |
F844I |
probably damaging |
Het |
Mep1a |
T |
A |
17: 43,788,064 (GRCm39) |
D664V |
possibly damaging |
Het |
Muc4 |
T |
A |
16: 32,574,449 (GRCm39) |
N966K |
probably benign |
Het |
Myo7b |
T |
A |
18: 32,118,073 (GRCm39) |
Q851L |
possibly damaging |
Het |
Pdzd2 |
T |
C |
15: 12,373,850 (GRCm39) |
H2095R |
probably benign |
Het |
Phldb1 |
A |
G |
9: 44,639,366 (GRCm39) |
L4P |
possibly damaging |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Pnpla8 |
T |
A |
12: 44,329,947 (GRCm39) |
N166K |
probably benign |
Het |
Qrfprl |
T |
C |
6: 65,430,101 (GRCm39) |
|
probably null |
Het |
Rapgef2 |
A |
G |
3: 79,006,492 (GRCm39) |
M137T |
probably damaging |
Het |
Rbm15b |
G |
A |
9: 106,761,538 (GRCm39) |
H877Y |
probably damaging |
Het |
Rbm45 |
T |
C |
2: 76,206,777 (GRCm39) |
L263P |
probably damaging |
Het |
Rprd1b |
T |
C |
2: 157,916,884 (GRCm39) |
V288A |
probably damaging |
Het |
Tmtc3 |
C |
A |
10: 100,302,116 (GRCm39) |
V278L |
probably damaging |
Het |
Tomm70a |
A |
G |
16: 56,970,289 (GRCm39) |
T556A |
probably damaging |
Het |
Trpc7 |
T |
C |
13: 57,035,504 (GRCm39) |
E143G |
probably damaging |
Het |
Trpm3 |
G |
T |
19: 22,903,435 (GRCm39) |
|
probably null |
Het |
Ugt2b34 |
T |
C |
5: 87,054,499 (GRCm39) |
E94G |
probably benign |
Het |
Vmn1r174 |
T |
C |
7: 23,453,937 (GRCm39) |
V201A |
probably benign |
Het |
Zfp352 |
T |
C |
4: 90,112,583 (GRCm39) |
F241S |
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 |
IGL02413:Catsper1
|
APN |
19 |
5,386,264 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL02560:Catsper1
|
APN |
19 |
5,386,216 (GRCm39) |
missense |
possibly damaging |
0.93 |
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 |
2016-08-02 |