Mutagenetix > Incidental Mutation

Incidental Mutation 'R5629:Catsper1'

442029

Institutional Source

Beutler Lab

Gene Symbol

Catsper1

Ensembl Gene

ENSMUSG00000038498

Gene Name

cation channel, sperm associated 1

Synonyms

KSper

MMRRC Submission

043280-MU

Accession Numbers

Essential gene?

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

Stock #

R5629 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5385769-5394308 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5386165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 133 (P133S)

Ref Sequence

ENSEMBL: ENSMUSP00000045430 (fasta)

Gene Model

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

AlphaFold

Q91ZR5

Predicted Effect

probably benign
Transcript: ENSMUST00000043380
AA Change: P133S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000045430
Gene: ENSMUSG00000038498
AA Change: P133S

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: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	G	A	5: 36,014,507 (GRCm39)	D189N	probably benign	Het
Adamts9	A	T	6: 92,775,114 (GRCm39)	V1052D	probably damaging	Het
Apob	T	C	12: 8,057,847 (GRCm39)	Y2077H	probably damaging	Het
Apol7e	A	T	15: 77,602,276 (GRCm39)	K291N	probably benign	Het
Arsk	A	T	13: 76,242,027 (GRCm39)	I82N	probably damaging	Het
Art1	A	G	7: 101,756,286 (GRCm39)	Q159R	probably benign	Het
Atp2a2	A	G	5: 122,598,159 (GRCm39)	V733A	probably damaging	Het
Btn2a2	A	T	13: 23,666,130 (GRCm39)		probably null	Het
Celsr3	A	G	9: 108,726,266 (GRCm39)	D3165G	probably benign	Het
Cldn19	T	A	4: 119,114,116 (GRCm39)	V86E	probably damaging	Het
Ctnna1	T	A	18: 35,382,802 (GRCm39)	D649E	probably benign	Het
Cttnbp2	A	G	6: 18,405,217 (GRCm39)	I1094T	probably damaging	Het
Ddx24	T	C	12: 103,391,806 (GRCm39)		probably benign	Het
Ern2	T	A	7: 121,769,389 (GRCm39)	H879L	probably damaging	Het
Etv4	T	A	11: 101,662,751 (GRCm39)	H277L	probably damaging	Het
Faap100	G	T	11: 120,267,837 (GRCm39)	A312D	probably damaging	Het
Glipr1l1	G	A	10: 111,914,308 (GRCm39)	C223Y	possibly damaging	Het
Gna14	T	C	19: 16,414,097 (GRCm39)	S14P	possibly damaging	Het
Hapln1	A	G	13: 89,749,634 (GRCm39)	T60A	probably damaging	Het
Hars2	T	A	18: 36,921,719 (GRCm39)	Y273*	probably null	Het
Ighv5-6	A	T	12: 113,589,242 (GRCm39)	Y79*	probably null	Het
Iqgap2	T	A	13: 95,768,682 (GRCm39)	N1406I	probably damaging	Het
Kalrn	T	C	16: 33,860,304 (GRCm39)	T215A	possibly damaging	Het
Krtap13-1	T	A	16: 88,526,047 (GRCm39)	S90R	probably benign	Het
Mettl8	T	C	2: 70,795,913 (GRCm39)	I372V	probably benign	Het
Mfn1	A	T	3: 32,615,659 (GRCm39)	T341S	possibly damaging	Het
Mocos	T	A	18: 24,797,142 (GRCm39)		probably null	Het
Muc5b	T	C	7: 141,415,036 (GRCm39)	S2661P	possibly damaging	Het
Myo15a	C	T	11: 60,370,578 (GRCm39)	P1113S	probably benign	Het
Myo5a	A	T	9: 75,111,127 (GRCm39)	I1540F	possibly damaging	Het
Myoc	T	C	1: 162,476,156 (GRCm39)	Y287H	probably damaging	Het
Napepld	A	G	5: 21,880,901 (GRCm39)	F165L	probably benign	Het
Ndufb10	T	C	17: 24,941,656 (GRCm39)	E102G	probably damaging	Het
Nrros	T	A	16: 31,963,223 (GRCm39)	I265F	probably damaging	Het
Nrxn1	A	T	17: 90,897,460 (GRCm39)	F891I	possibly damaging	Het
Nsfl1c	T	C	2: 151,346,085 (GRCm39)	Y169H	probably damaging	Het
Oas2	G	A	5: 120,876,516 (GRCm39)	Q476*	probably null	Het
Or51f5	A	T	7: 102,423,847 (GRCm39)	I39F	possibly damaging	Het
Pcnx2	C	A	8: 126,624,780 (GRCm39)	W14L	probably damaging	Het
Pip4p1	T	C	14: 51,165,373 (GRCm39)	H278R	probably benign	Het
Piwil2	C	T	14: 70,660,416 (GRCm39)	V70M	probably damaging	Het
Prss23	A	C	7: 89,159,400 (GRCm39)	V223G	probably damaging	Het
Rarres2	A	T	6: 48,547,194 (GRCm39)	L122Q	probably benign	Het
Robo1	T	C	16: 72,780,598 (GRCm39)	V776A	probably benign	Het
Robo3	G	A	9: 37,330,507 (GRCm39)	Q1008*	probably null	Het
Robo4	G	A	9: 37,319,658 (GRCm39)	C636Y	probably damaging	Het
Sacm1l	A	G	9: 123,395,464 (GRCm39)	M196V	probably benign	Het
Septin7	T	A	9: 25,199,589 (GRCm39)	Y163N	probably damaging	Het
Skint6	G	A	4: 112,870,176 (GRCm39)	T594I	possibly damaging	Het
Slc23a1	T	C	18: 35,759,545 (GRCm39)	H13R	probably benign	Het
Slc25a39	A	C	11: 102,295,719 (GRCm39)	Y109*	probably null	Het
Slc8a3	G	A	12: 81,246,405 (GRCm39)	R883C	probably damaging	Het
Spag17	A	T	3: 99,987,435 (GRCm39)	Y1575F	probably benign	Het
Spdye4c	T	A	2: 128,438,705 (GRCm39)	I321N	probably damaging	Het
Stk32b	G	A	5: 37,614,576 (GRCm39)	P311S	probably damaging	Het
Svs3a	T	A	2: 164,132,040 (GRCm39)	S203T	probably benign	Het
Taf3	A	T	2: 9,922,989 (GRCm39)	I45N	probably damaging	Het
Taf7	T	C	18: 37,776,555 (GRCm39)	N4S	probably benign	Het
Tial1	T	A	7: 128,046,421 (GRCm39)	D87V	probably damaging	Het
Tmem120a	T	A	5: 135,770,904 (GRCm39)	E78V	probably benign	Het
Tmem19	A	G	10: 115,183,165 (GRCm39)	F137L	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trim30d	T	C	7: 104,137,136 (GRCm39)	K23E	possibly damaging	Het
Ubxn7	C	A	16: 32,151,117 (GRCm39)	H4Q	unknown	Het
Usp40	C	T	1: 87,908,731 (GRCm39)	R590H	probably benign	Het
Vmn1r90	A	G	7: 14,296,011 (GRCm39)	M22T	possibly damaging	Het
Vmn2r1	G	A	3: 64,012,538 (GRCm39)	V800M	possibly damaging	Het
Vps11	A	T	9: 44,267,673 (GRCm39)	I313N	probably damaging	Het
Zhx1	A	G	15: 57,918,207 (GRCm39)	V13A	probably damaging	Het
Zic4	G	A	9: 91,260,805 (GRCm39)	R20H	probably benign	Het
Zp3r	C	T	1: 130,510,616 (GRCm39)	V369M	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
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'- CAGACTCCCATGACAATGCTTTC -3'
(R):5'- TCATGATGGTGATCAGCGTG -3'

Sequencing Primer
(F):5'- CTCCCATCATTCCTATCAGCAGGAC -3'
(R):5'- AGGTCTTTCCTGGCGACTGAAC -3'

Posted On

2016-11-08