Incidental Mutation 'R6402:Catsper1'
ID |
516207 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Catsper1
|
Ensembl Gene |
ENSMUSG00000038498 |
Gene Name |
cation channel, sperm associated 1 |
Synonyms |
KSper |
MMRRC Submission |
044419-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.163)
|
Stock # |
R6402 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
5385769-5394308 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 5389524 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Tryptophan
at position 480
(G480W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045430
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043380]
|
AlphaFold |
Q91ZR5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043380
AA Change: G480W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045430 Gene: ENSMUSG00000038498 AA Change: G480W
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr4 |
T |
A |
9: 103,976,144 (GRCm39) |
I268F |
possibly damaging |
Het |
Adck2 |
T |
C |
6: 39,563,803 (GRCm39) |
V514A |
possibly damaging |
Het |
Cbarp |
A |
G |
10: 79,970,956 (GRCm39) |
I247T |
probably benign |
Het |
Cdc14a |
A |
G |
3: 116,142,108 (GRCm39) |
Y172H |
probably damaging |
Het |
Creld2 |
C |
T |
15: 88,707,344 (GRCm39) |
R221C |
probably damaging |
Het |
Dmac1 |
C |
T |
4: 75,196,217 (GRCm39) |
|
probably null |
Het |
Epsti1 |
A |
G |
14: 78,177,318 (GRCm39) |
E166G |
probably damaging |
Het |
Hus1 |
A |
G |
11: 8,960,407 (GRCm39) |
F64S |
probably damaging |
Het |
Kansl1l |
T |
A |
1: 66,801,352 (GRCm39) |
H538L |
probably damaging |
Het |
Map4k2 |
T |
C |
19: 6,394,111 (GRCm39) |
|
probably null |
Het |
Mettl8 |
A |
T |
2: 70,796,805 (GRCm39) |
Y98* |
probably null |
Het |
Naip6 |
G |
T |
13: 100,437,226 (GRCm39) |
H432Q |
probably benign |
Het |
Sirt4 |
C |
T |
5: 115,618,370 (GRCm39) |
V235M |
probably damaging |
Het |
Skic3 |
A |
G |
13: 76,283,389 (GRCm39) |
H827R |
probably benign |
Het |
Slc23a3 |
T |
C |
1: 75,105,200 (GRCm39) |
N456S |
probably damaging |
Het |
Slc9a1 |
C |
A |
4: 133,097,962 (GRCm39) |
H36Q |
probably benign |
Het |
Spink14 |
A |
G |
18: 44,164,041 (GRCm39) |
T70A |
probably damaging |
Het |
Stambpl1 |
C |
A |
19: 34,211,539 (GRCm39) |
P200Q |
probably benign |
Het |
Trio |
T |
A |
15: 27,902,997 (GRCm39) |
I155L |
probably benign |
Het |
Vmn1r51 |
T |
C |
6: 90,106,444 (GRCm39) |
V120A |
probably benign |
Het |
Wac |
A |
G |
18: 7,901,585 (GRCm39) |
S77G |
possibly damaging |
Het |
Zeb2 |
G |
A |
2: 44,886,987 (GRCm39) |
T675I |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAACATGGGCCTGGATTTCC -3'
(R):5'- GAACCACTTCTCACCAGGTC -3'
Sequencing Primer
(F):5'- GGAATACTTCCCCCTCTGCGG -3'
(R):5'- TTCTCACCAGGTCACACTCAG -3'
|
Posted On |
2018-05-04 |