Mutagenetix > Incidental Mutations

Incidental Mutation 'R7240:Catsper2'

563129

Institutional Source

Beutler Lab

Gene Symbol

Catsper2

Ensembl Gene

ENSMUSG00000033486

Gene Name

cation channel, sperm associated 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R7240 (G1)

Quality Score

135.474

Status

Not validated

Chromosome

Chromosomal Location

121392631-121413792 bp(-) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT to TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT at 121397572 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119091 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038073] [ENSMUST00000154604]

Predicted Effect

probably benign
Transcript: ENSMUST00000038073

SMART Domains

Protein: ENSMUSP00000037222
Gene: ENSMUSG00000033486

Domain	Start	End	E-Value	Type
low complexity region	78	91	N/A	INTRINSIC
Pfam:Ion_trans	105	350	1e-35	PFAM
low complexity region	422	447	N/A	INTRINSIC
internal_repeat_1	450	473	3.72e-11	PROSPERO
internal_repeat_1	465	488	3.72e-11	PROSPERO
low complexity region	491	502	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154604

SMART Domains

Protein: ENSMUSP00000119091
Gene: ENSMUSG00000033486

Domain	Start	End	E-Value	Type
low complexity region	78	91	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (50/52)

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. This gene is part of a tandem repeat on chromosome 15q15; the second copy of this gene is thought to be a pseudogene. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygous null male mice are infertile due to a sperm motility defect. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210017I01Rik	A	G	3: 92,605,075	I59T	unknown	Het
Aspm	C	T	1: 139,478,651	Q1759*	probably null	Het
Atn1	A	T	6: 124,747,898	I124K	unknown	Het
Ccdc88c	C	T	12: 100,944,939	V879M	probably benign	Het
Cd300c	A	G	11: 114,959,783	C65R	possibly damaging	Het
Cd69	A	T	6: 129,270,042	S112T	possibly damaging	Het
Cdh19	T	C	1: 110,893,407	T534A	probably benign	Het
Cdk5rap2	T	A	4: 70,291,908	D701V	probably damaging	Het
D130052B06Rik	A	G	11: 33,623,874	H157R	possibly damaging	Het
Dpf1	T	A	7: 29,311,627	F150L	probably benign	Het
Dsg1c	T	C	18: 20,283,109	L689P	probably damaging	Het
Dstyk	G	A	1: 132,454,123	M538I	probably benign	Het
E4f1	T	A	17: 24,444,325	I669F	probably damaging	Het
Gm7138	T	C	10: 77,776,755	T64A	unknown	Het
Gnai2	A	C	9: 107,615,773	D310E		Het
Iqca	A	G	1: 90,070,550	V567A	possibly damaging	Het
Iqgap1	A	T	7: 80,759,839	N249K	probably benign	Het
Lamc1	A	G	1: 153,234,650	V1093A	possibly damaging	Het
Mfap3	A	G	11: 57,529,756	K188E	probably damaging	Het
N4bp2	T	A	5: 65,794,545	V431D	probably damaging	Het
Notch4	A	G	17: 34,576,471	T792A	probably benign	Het
Ntn4	A	G	10: 93,745,741	H592R	probably damaging	Het
Ofcc1	A	G	13: 40,208,841	C202R	probably benign	Het
Olfr13	A	G	6: 43,174,501	K172E	probably benign	Het
Olfr418	T	C	1: 173,270,994	I273T	probably benign	Het
Olfr476	T	C	7: 107,968,188	S264P	probably benign	Het
Olfr497	A	G	7: 108,422,933	M121V	probably damaging	Het
Olfr922	A	G	9: 38,815,713	D70G	probably benign	Het
Olfr938	A	T	9: 39,078,610	M45K	probably damaging	Het
Parpbp	G	A	10: 88,124,940	T228I	probably damaging	Het
Pcdhgb8	G	A	18: 37,763,703	V609M	probably damaging	Het
Pla2g4d	T	C	2: 120,270,349	N543S	probably damaging	Het
Puf60	A	G	15: 76,072,539		probably benign	Het
Rbm6	A	T	9: 107,852,896	D184E	probably damaging	Het
Rnase9	A	C	14: 51,038,979	S181A	probably benign	Het
Rnpc3	T	A	3: 113,616,831	R270S	probably damaging	Het
Rundc1	T	C	11: 101,431,548		probably null	Het
Ryr1	T	C	7: 29,052,015	S3715G	possibly damaging	Het
Scn3a	A	T	2: 65,469,042	D1373E	possibly damaging	Het
Serpina3k	T	G	12: 104,340,602	I31S	probably benign	Het
Sipa1l2	A	G	8: 125,469,860	F712L	probably damaging	Het
Slc22a29	A	G	19: 8,161,511	V529A	probably damaging	Het
Tdrd3	A	G	14: 87,458,803	N58S	probably benign	Het
Tmc2	C	T	2: 130,234,804	T350I	possibly damaging	Het
Tpst2	T	C	5: 112,307,678	C28R	probably benign	Het
Trbv21	A	T	6: 41,202,958	K69N	probably benign	Het
Trpm2	A	G	10: 77,935,876		probably null	Het
Ttn	A	G	2: 76,848,990	V10796A	unknown	Het
Ush2a	A	G	1: 188,911,661	T4407A	possibly damaging	Het
Vmn2r95	A	G	17: 18,451,963	H726R	probably benign	Het
Zfp777	A	G	6: 48,044,449	S80P	probably benign	Het

Other mutations in Catsper2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00649:Catsper2	APN	2	121397892	splice site	probably benign
IGL01830:Catsper2	APN	2	121407362	missense	probably damaging	1.00
IGL03243:Catsper2	APN	2	121406819	missense	probably benign	0.08
IGL03247:Catsper2	APN	2	121410200	missense	probably benign	0.03
IGL03342:Catsper2	APN	2	121406736	missense	probably damaging	0.99
FR4304:Catsper2	UTSW	2	121397542	nonsense	probably null
FR4304:Catsper2	UTSW	2	121397782	utr 3 prime	probably benign
FR4342:Catsper2	UTSW	2	121397793	utr 3 prime	probably benign
FR4589:Catsper2	UTSW	2	121397779	utr 3 prime	probably benign
FR4737:Catsper2	UTSW	2	121397540	utr 3 prime	probably benign
FR4976:Catsper2	UTSW	2	121397542	utr 3 prime	probably benign
FR4976:Catsper2	UTSW	2	121397779	utr 3 prime	probably benign
FR4976:Catsper2	UTSW	2	121397782	utr 3 prime	probably benign
FR4976:Catsper2	UTSW	2	121397795	utr 3 prime	probably benign
R1463:Catsper2	UTSW	2	121406446	missense	probably damaging	1.00
R1686:Catsper2	UTSW	2	121400042	critical splice donor site	probably null
R2006:Catsper2	UTSW	2	121406357	nonsense	probably null
R2163:Catsper2	UTSW	2	121400175	missense	probably damaging	1.00
R4543:Catsper2	UTSW	2	121407409	nonsense	probably null
R4888:Catsper2	UTSW	2	121397123	splice site	probably null
R5121:Catsper2	UTSW	2	121397123	splice site	probably null
R5323:Catsper2	UTSW	2	121406735	missense	probably damaging	1.00
R5518:Catsper2	UTSW	2	121406363	missense	possibly damaging	0.69
R5605:Catsper2	UTSW	2	121397052	missense	possibly damaging	0.91
R6521:Catsper2	UTSW	2	121406807	missense	probably damaging	1.00
R6531:Catsper2	UTSW	2	121399780	missense	possibly damaging	0.67
R7055:Catsper2	UTSW	2	121397572	utr 3 prime	probably benign
R7138:Catsper2	UTSW	2	121397063	missense	possibly damaging	0.85
R7247:Catsper2	UTSW	2	121397572	utr 3 prime	probably benign
R7686:Catsper2	UTSW	2	121397456	splice site	probably null
R8385:Catsper2	UTSW	2	121410140	missense	possibly damaging	0.46
R8426:Catsper2	UTSW	2	121397572	utr 3 prime	probably benign
R8463:Catsper2	UTSW	2	121397572	utr 3 prime	probably benign
RF028:Catsper2	UTSW	2	121397726	utr 3 prime	probably benign
Z1176:Catsper2	UTSW	2	121407385	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGTTTTAAAATCATCCTGGGCCAC -3'
(R):5'- AGCGATGCTACTGAAAGCGATG -3'

Sequencing Primer
(F):5'- CAAAACAATGACTGTGGGTCTC -3'
(R):5'- CTACTGAAAGCGATGGCGAG -3'

Posted On

2019-06-26