Mutagenetix > Incidental Mutation

Incidental Mutation 'R0002:Catsper1'

157144

Institutional Source

Beutler Lab

Gene Symbol

Catsper1

Ensembl Gene

ENSMUSG00000038498

Gene Name

cation channel, sperm associated 1

Synonyms

KSper

MMRRC Submission

038298-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R0002 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

5385769-5394308 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 5391551 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000045430 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025764] [ENSMUST00000043380]

AlphaFold

Q91ZR5

Predicted Effect

probably benign
Transcript: ENSMUST00000025764

SMART Domains

Protein: ENSMUSP00000025764
Gene: ENSMUSG00000024846

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
CY	33	147	2.36e-30	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000043380

SMART Domains

Protein: ENSMUSP00000045430
Gene: ENSMUSG00000038498

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

97% (36/37)

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: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcl2	T	C	1: 106,640,241 (GRCm39)	R124G	possibly damaging	Het
Ccdc125	C	T	13: 100,830,114 (GRCm39)	Q295*	probably null	Het
Cdhr5	G	T	7: 140,849,933 (GRCm39)		probably null	Het
Dhx36	A	C	3: 62,388,260 (GRCm39)	L625W	probably damaging	Het
Icam5	T	A	9: 20,944,801 (GRCm39)	D121E	probably benign	Het
Ncoa1	A	G	12: 4,340,885 (GRCm39)	V849A	probably benign	Het
Nuak1	A	T	10: 84,211,231 (GRCm39)	W286R	probably damaging	Het
Pate14	A	T	9: 36,548,655 (GRCm39)	D59E	probably damaging	Het
Prkag3	T	C	1: 74,783,947 (GRCm39)	D312G	probably damaging	Het
Sbk3	T	C	7: 4,973,630 (GRCm39)	D17G	probably damaging	Het
Slc26a5	T	A	5: 22,019,981 (GRCm39)	I530F	probably damaging	Het
Spink12	T	C	18: 44,240,763 (GRCm39)	C50R	probably damaging	Het
Sult3a2	T	C	10: 33,655,803 (GRCm39)	I59V	possibly damaging	Het
Tapbp	C	T	17: 34,144,606 (GRCm39)	A234V	probably damaging	Het
Tnr	T	C	1: 159,701,770 (GRCm39)	Y624H	probably damaging	Het
Zfp560	T	C	9: 20,258,813 (GRCm39)	Y683C	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
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

Predicted Primers

PCR Primer
(F):5'- CCTTCTTGAATGCAGTCATTTGCCG -3'
(R):5'- AACATTTCTCTTTGGGTCCCTGGAAC -3'

Sequencing Primer
(F):5'- AGTCATTTGCCGGGTCAC -3'
(R):5'- gagagagagagagagagagagag -3'

Posted On

2014-02-14