Mutagenetix > Incidental Mutation

Incidental Mutation 'R9489:Catsper1'

716871

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 #

R9489 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5385769-5394308 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5387785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 355 (T355A)

Ref Sequence

ENSEMBL: ENSMUSP00000045430 (fasta)

Gene Model

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

AlphaFold

Q91ZR5

Predicted Effect

probably benign
Transcript: ENSMUST00000043380
AA Change: T355A

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000045430
Gene: ENSMUSG00000038498
AA Change: T355A

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: 99.7%
20x: 99.3%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	A	13: 61,002,683 (GRCm39)	S24C	probably damaging	Het
6430548M08Rik	G	A	8: 120,872,380 (GRCm39)	V103I	possibly damaging	Het
Acaca	C	T	11: 84,183,842 (GRCm39)	T1240I	probably benign	Het
Adam19	T	C	11: 46,028,449 (GRCm39)	V694A	probably benign	Het
Adipor1	A	G	1: 134,352,553 (GRCm39)	D108G	probably damaging	Het
Arhgef4	A	G	1: 34,761,745 (GRCm39)	T334A	unknown	Het
Bcl11a	T	C	11: 24,114,582 (GRCm39)	F642L	probably benign	Het
Camk2d	T	C	3: 126,561,209 (GRCm39)	Y108H	probably damaging	Het
Castor2	G	T	5: 134,164,536 (GRCm39)	V166L	probably benign	Het
Ccdc69	T	A	11: 54,945,856 (GRCm39)	N50I	possibly damaging	Het
Chd8	A	T	14: 52,457,055 (GRCm39)	L971Q	probably damaging	Het
Chrna10	C	A	7: 101,762,801 (GRCm39)	A130S	probably benign	Het
Ciao1	G	A	2: 127,087,684 (GRCm39)	T217I	probably damaging	Het
Cldn1	A	T	16: 26,181,924 (GRCm39)	I95N	probably damaging	Het
Cluh	C	T	11: 74,558,772 (GRCm39)	R1253C	possibly damaging	Het
Cngb3	A	T	4: 19,505,187 (GRCm39)	Q640L	probably benign	Het
Cyp2c40	A	T	19: 39,766,443 (GRCm39)	V384D	probably damaging	Het
Cyp2d26	T	A	15: 82,674,672 (GRCm39)	M437L	probably benign	Het
Cyp2j7	T	C	4: 96,103,591 (GRCm39)	T315A	probably damaging	Het
D430041D05Rik	A	G	2: 104,087,189 (GRCm39)	S596P	probably benign	Het
Dagla	A	T	19: 10,233,053 (GRCm39)	V448D	probably damaging	Het
Ddx59	A	T	1: 136,344,594 (GRCm39)	E88D	probably benign	Het
Dnhd1	A	G	7: 105,300,804 (GRCm39)	I54V	probably benign	Het
Dnttip1	A	C	2: 164,593,162 (GRCm39)	D95A	probably benign	Het
Efna3	T	C	3: 89,222,818 (GRCm39)	T207A	probably benign	Het
Eprs1	A	C	1: 185,139,895 (GRCm39)	S995R	probably benign	Het
Eprs1	G	A	1: 185,139,896 (GRCm39)	S995N	probably benign	Het
Erbb2	T	C	11: 98,311,746 (GRCm39)	V94A	possibly damaging	Het
Etl4	A	T	2: 20,771,345 (GRCm39)	I607F	possibly damaging	Het
Ets2	G	T	16: 95,516,121 (GRCm39)	E234*	probably null	Het
Fgf6	A	C	6: 126,992,814 (GRCm39)	Y89S	probably damaging	Het
Fmn2	C	T	1: 174,436,194 (GRCm39)	Q722*	probably null	Het
Gata3un	CGG	CG	2: 9,888,075 (GRCm39)		probably null	Het
Gdpd5	A	G	7: 99,103,031 (GRCm39)	D330G		Het
Glipr1	A	G	10: 111,832,801 (GRCm39)	S46P	probably damaging	Het
Gnptab	A	G	10: 88,268,992 (GRCm39)	Y565C	probably damaging	Het
H2-M10.2	C	T	17: 36,596,936 (GRCm39)	V47I	probably benign	Het
Heatr5b	T	A	17: 79,060,679 (GRCm39)	K1999*	probably null	Het
Iqgap3	C	A	3: 88,016,176 (GRCm39)	F986L	probably damaging	Het
Kif9	G	A	9: 110,346,710 (GRCm39)	R616H	probably benign	Het
Krt87	G	T	15: 101,336,484 (GRCm39)	C56*	probably null	Het
Ldlr	A	G	9: 21,646,626 (GRCm39)	D264G	probably damaging	Het
Lrrk2	A	T	15: 91,621,420 (GRCm39)	D998V	probably benign	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mmp9	A	G	2: 164,793,146 (GRCm39)	N432D	probably benign	Het
Mrc1	A	G	2: 14,324,110 (GRCm39)	N1149S	probably benign	Het
Mta1	A	T	12: 113,095,085 (GRCm39)	M448L	probably benign	Het
Myo1c	T	A	11: 75,559,899 (GRCm39)	V661E	probably benign	Het
Ndc1	T	C	4: 107,247,863 (GRCm39)		probably null	Het
Npy	A	C	6: 49,804,545 (GRCm39)	T89P	possibly damaging	Het
Or12e13	T	G	2: 87,663,478 (GRCm39)	F32V	probably benign	Het
Or52e19	A	G	7: 102,959,452 (GRCm39)	I175V	probably benign	Het
Or52e8	A	T	7: 104,624,856 (GRCm39)	M116K	probably damaging	Het
Or8b12i	A	G	9: 20,082,093 (GRCm39)	V258A	probably damaging	Het
Osgin2	G	T	4: 15,998,427 (GRCm39)	H398Q	probably damaging	Het
Pepd	A	C	7: 34,743,218 (GRCm39)	D419A	probably benign	Het
Pikfyve	A	T	1: 65,303,561 (GRCm39)	S1694C	probably benign	Het
Polq	A	G	16: 36,843,173 (GRCm39)	I236V	probably benign	Het
Prkag3	T	G	1: 74,786,378 (GRCm39)	Q189P	probably damaging	Het
Rab6b	A	T	9: 103,017,601 (GRCm39)	T31S	probably benign	Het
Ralgapb	C	T	2: 158,268,283 (GRCm39)	P129S	possibly damaging	Het
Ryr3	A	T	2: 112,491,966 (GRCm39)	L3795Q	probably damaging	Het
Sash1	C	T	10: 8,605,169 (GRCm39)	V1074M	probably benign	Het
Scfd2	T	C	5: 74,680,235 (GRCm39)	D306G	probably damaging	Het
Scg2	A	G	1: 79,412,936 (GRCm39)	Y556H	probably damaging	Het
Serpina3j	A	G	12: 104,286,093 (GRCm39)	N416S	probably damaging	Het
Serpinb6c	T	A	13: 34,081,421 (GRCm39)	Q76L	probably null	Het
Setd7	G	A	3: 51,450,139 (GRCm39)	Q96*	probably null	Het
Sf3b4	C	T	3: 96,080,946 (GRCm39)	R85W	probably damaging	Het
Sik3	T	A	9: 46,120,117 (GRCm39)	H735Q	probably benign	Het
Slain1	A	C	14: 103,902,112 (GRCm39)	T60P		Het
Slc36a3	T	C	11: 55,040,726 (GRCm39)	E69G	unknown	Het
Sorcs3	A	T	19: 48,711,364 (GRCm39)	Y643F	probably damaging	Het
Spta1	A	G	1: 174,035,880 (GRCm39)	Y1062C	probably damaging	Het
Ssc5d	C	T	7: 4,940,599 (GRCm39)	P904L	probably benign	Het
Stat5b	T	A	11: 100,699,276 (GRCm39)	H25L	possibly damaging	Het
Synj2	A	G	17: 6,063,794 (GRCm39)	I513V	probably benign	Het
Tenm2	T	C	11: 36,834,791 (GRCm39)	E68G	probably damaging	Het
Thsd7a	C	T	6: 12,352,022 (GRCm39)	G1058R		Het
Traf3ip2	T	A	10: 39,521,772 (GRCm39)	D443E	probably benign	Het
Traf6	G	T	2: 101,524,625 (GRCm39)	C235F	probably damaging	Het
Treh	A	G	9: 44,592,416 (GRCm39)	D47G	probably damaging	Het
Txndc16	A	T	14: 45,442,799 (GRCm39)	F132Y	probably damaging	Het
Uggt1	A	T	1: 36,273,886 (GRCm39)		probably null	Het
Usp25	A	T	16: 76,874,046 (GRCm39)	I541F	probably damaging	Het
Zfp51	A	G	17: 21,684,291 (GRCm39)	E302G	probably damaging	Het
Zfp648	A	T	1: 154,080,110 (GRCm39)	T90S	probably benign	Het
Zfp84	A	G	7: 29,476,264 (GRCm39)	T319A	possibly damaging	Het
Zkscan17	T	A	11: 59,378,037 (GRCm39)	H538L	probably damaging	Het
Zyg11a	G	T	4: 108,062,376 (GRCm39)	P142T	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
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
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'- TAAGGACAGTGACCCCAAGG -3'
(R):5'- TGTCAACAAGTTGCCAGGAG -3'

Sequencing Primer
(F):5'- GGAATGATAATGATGCCCATTCTGG -3'
(R):5'- TTGGCTTCACACAGAGACCTGAG -3'

Posted On

2022-07-18