Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02560:Catsper1'

298178

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) question?

Stock #

IGL02560

Quality Score

Status

Chromosome

Chromosomal Location

5385769-5394308 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5386216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 150 (S150P)

Ref Sequence

ENSEMBL: ENSMUSP00000045430 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043380]

AlphaFold

Q91ZR5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043380
AA Change: S150P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045430
Gene: ENSMUSG00000038498
AA Change: S150P

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano4	C	T	10: 88,814,603 (GRCm39)	W660*	probably null	Het
Atp9b	T	C	18: 80,805,413 (GRCm39)	D715G	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cldn19	G	A	4: 119,112,921 (GRCm39)	W51*	probably null	Het
Ddx31	T	C	2: 28,765,838 (GRCm39)	I512T	probably damaging	Het
Dsc2	G	T	18: 20,178,596 (GRCm39)	D269E	probably damaging	Het
Dsg1b	T	C	18: 20,542,235 (GRCm39)	V914A	possibly damaging	Het
Etl4	A	G	2: 20,748,529 (GRCm39)	E420G	probably damaging	Het
Foxa2	A	G	2: 147,885,951 (GRCm39)	L113P	probably benign	Het
Gm6034	T	G	17: 36,367,356 (GRCm39)		probably benign	Het
Gtf3c4	A	T	2: 28,724,279 (GRCm39)	Y343*	probably null	Het
Hhip	A	T	8: 80,713,638 (GRCm39)	Y563N	probably damaging	Het
Ighg2c	A	T	12: 113,251,504 (GRCm39)	C208S	unknown	Het
Lipo2	A	G	19: 33,708,348 (GRCm39)	L222P	possibly damaging	Het
Myb	A	T	10: 21,028,347 (GRCm39)	L172Q	probably damaging	Het
Nipal3	A	T	4: 135,207,015 (GRCm39)	Y60N	probably damaging	Het
Npas2	A	T	1: 39,373,042 (GRCm39)		probably benign	Het
Or5h26	G	T	16: 58,987,891 (GRCm39)	S205*	probably null	Het
Or8k16	T	A	2: 85,519,863 (GRCm39)	V30D	possibly damaging	Het
Or8k39	A	T	2: 86,563,578 (GRCm39)	I126N	probably damaging	Het
Pdxdc1	T	C	16: 13,657,596 (GRCm39)	D532G	probably benign	Het
Pwp2	T	C	10: 78,014,899 (GRCm39)	S362G	probably damaging	Het
Senp5	A	G	16: 31,808,210 (GRCm39)	V348A	probably benign	Het
Slc25a37	T	C	14: 69,482,741 (GRCm39)	T187A	probably benign	Het
Svil	A	G	18: 5,049,379 (GRCm39)	I219V	probably benign	Het
Tcf4	A	G	18: 69,776,093 (GRCm39)		probably benign	Het
Tex15	T	C	8: 34,071,779 (GRCm39)	V2442A	probably benign	Het
Tomm70a	T	C	16: 56,970,212 (GRCm39)	L530S	probably benign	Het
Ulbp3	A	G	10: 3,075,866 (GRCm39)		noncoding transcript	Het
Wscd2	A	T	5: 113,699,045 (GRCm39)	D200V	probably benign	Het
Zfp952	C	T	17: 33,221,793 (GRCm39)	Q53*	probably null	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
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