Mutagenetix > Incidental Mutation

Incidental Mutation 'R9129:Catsper1'

726327

Institutional Source

Beutler Lab

Gene Symbol

Catsper1

Ensembl Gene

ENSMUSG00000038498

Gene Name

cation channel, sperm associated 1

Synonyms

KSper

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R9129 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5385769-5394308 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 5390402 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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (68/69)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,523,223 (GRCm39)	S1238P	probably damaging	Het
Akap9	T	C	5: 4,119,089 (GRCm39)	L3532S	probably benign	Het
Ankfn1	A	G	11: 89,312,042 (GRCm39)	L701P		Het
Aph1b	A	C	9: 66,686,595 (GRCm39)	I225S	probably benign	Het
Asic4	A	T	1: 75,446,469 (GRCm39)	H337L	possibly damaging	Het
Atp8b3	T	C	10: 80,368,412 (GRCm39)	E187G	probably damaging	Het
Atp9a	A	G	2: 168,517,205 (GRCm39)	M376T	probably benign	Het
Bod1l	G	T	5: 41,976,220 (GRCm39)	T1698K	probably damaging	Het
Cacna2d4	T	C	6: 119,313,415 (GRCm39)		probably null	Het
Cd248	T	C	19: 5,120,140 (GRCm39)	S663P	probably benign	Het
Crispld2	A	T	8: 120,737,488 (GRCm39)	M80L	possibly damaging	Het
Cwc22	G	A	2: 77,726,659 (GRCm39)	Q807*	probably null	Het
Cyp2a4	T	C	7: 26,014,136 (GRCm39)	Y438H	probably benign	Het
Cyp2b23	A	T	7: 26,381,189 (GRCm39)		probably benign	Het
Dsp	T	A	13: 38,377,126 (GRCm39)	V1637D	probably benign	Het
Elovl1	A	T	4: 118,289,156 (GRCm39)	Y227F	possibly damaging	Het
Ern1	T	C	11: 106,300,946 (GRCm39)	K483E	probably benign	Het
Fzd2	T	C	11: 102,496,465 (GRCm39)	F303S	probably benign	Het
Gm9944	A	T	4: 144,179,763 (GRCm39)	V42D	unknown	Het
Grik5	G	A	7: 24,767,429 (GRCm39)		probably benign	Het
Hdac4	T	C	1: 91,909,929 (GRCm39)	D445G	probably benign	Het
Hinfp	C	T	9: 44,209,062 (GRCm39)	R352H	probably damaging	Het
Hrnr	A	G	3: 93,231,277 (GRCm39)	H505R	unknown	Het
Hsfy2	C	T	1: 56,675,752 (GRCm39)	D262N	probably benign	Het
Hspa4	G	A	11: 53,174,463 (GRCm39)	Q186*	probably null	Het
Ipo8	T	C	6: 148,700,125 (GRCm39)	H584R	probably benign	Het
Krtap8-1	T	A	16: 89,284,636 (GRCm39)	R54*	probably null	Het
Lama4	T	A	10: 38,932,887 (GRCm39)	Y588N	probably benign	Het
Lekr1	T	A	3: 65,591,426 (GRCm39)	Y54*	probably null	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Lypd10	A	G	7: 24,413,170 (GRCm39)	D163G	probably benign	Het
Lzts3	A	T	2: 130,476,865 (GRCm39)	Y528N	possibly damaging	Het
Mdn1	T	A	4: 32,676,812 (GRCm39)	V628E	probably benign	Het
Mgat5b	A	C	11: 116,859,348 (GRCm39)		probably benign	Het
Mical2	A	C	7: 111,870,589 (GRCm39)	K26T	possibly damaging	Het
Mllt10	C	T	2: 18,167,404 (GRCm39)	S443L	probably benign	Het
Mtf1	G	A	4: 124,698,913 (GRCm39)		probably benign	Het
Myom2	T	C	8: 15,154,068 (GRCm39)	F669L	probably damaging	Het
Nlrp9c	A	T	7: 26,077,428 (GRCm39)		probably null	Het
Nog	G	C	11: 89,192,602 (GRCm39)	S82W	probably damaging	Het
Ntrk2	A	G	13: 59,276,084 (GRCm39)	T795A	probably benign	Het
Or4a78	A	G	2: 89,497,930 (GRCm39)	F100S	probably damaging	Het
Or56a3b	G	A	7: 104,771,223 (GRCm39)	M186I	probably benign	Het
Or5m3	A	T	2: 85,838,356 (GRCm39)	M79L		Het
Or5w17	A	T	2: 87,584,048 (GRCm39)	F96L	probably benign	Het
Pira12	C	A	7: 3,898,500 (GRCm39)		probably null	Het
Prl6a1	A	T	13: 27,502,064 (GRCm39)	I144L		Het
Rab11fip5	A	G	6: 85,317,892 (GRCm39)	V999A	probably benign	Het
Serpinb6b	TTGTTTCTGT	TTGT	13: 33,162,139 (GRCm39)		probably benign	Het
Shisa6	A	G	11: 66,110,853 (GRCm39)	M296T	probably benign	Het
Slc18a1	T	A	8: 69,491,533 (GRCm39)	T494S	probably benign	Het
Slc22a29	T	G	19: 8,146,669 (GRCm39)	I378L	probably benign	Het
Slc23a2	C	T	2: 131,920,332 (GRCm39)		probably null	Het
Slc2a7	G	T	4: 150,243,001 (GRCm39)	R274L	probably benign	Het
Spta1	A	G	1: 174,058,911 (GRCm39)	T1949A	possibly damaging	Het
Szt2	A	G	4: 118,221,866 (GRCm39)	V3339A	unknown	Het
Tcp10a	G	A	17: 7,593,935 (GRCm39)	D87N	probably benign	Het
Tgm5	T	G	2: 120,877,270 (GRCm39)	Q638P	probably damaging	Het
Tmem145	A	G	7: 25,014,265 (GRCm39)	T460A	possibly damaging	Het
Ttc3	A	T	16: 94,185,208 (GRCm39)	M50L	probably benign	Het
Ush1c	A	G	7: 45,854,629 (GRCm39)	S708P	probably benign	Het
Vmn1r217	T	A	13: 23,298,876 (GRCm39)	T9S	probably benign	Het
Vmn1r26	T	C	6: 57,985,373 (GRCm39)	Y272C		Het
Vmn1r75	G	T	7: 11,614,513 (GRCm39)	A82S	probably benign	Het
Vmn2r117	T	A	17: 23,678,918 (GRCm39)	R769*	probably null	Het
Vps13b	C	A	15: 35,448,793 (GRCm39)	A589E	probably damaging	Het
Vps13d	G	A	4: 144,898,249 (GRCm39)	R304W		Het
Vps41	A	G	13: 19,011,775 (GRCm39)	E294G	probably benign	Het
Xpo7	T	C	14: 70,909,113 (GRCm39)	T802A	probably benign	Het
Ylpm1	T	A	12: 85,104,052 (GRCm39)	D2022E		Het
Zfp433	T	A	10: 81,555,724 (GRCm39)	C75*	probably null	Het
Zyg11a	A	T	4: 108,039,009 (GRCm39)	S737T	probably benign	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
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
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'- CAGTATGTGGCCTCTTCTCTGG -3'
(R):5'- ACTGTCTAGAATCCTTTGGCTC -3'

Sequencing Primer
(F):5'- GAGAGCATCCTCCTGTCCC -3'
(R):5'- GTCTAGAATCCTTTGGCTCAAAGTTC -3'

Posted On

2022-10-05