Mutagenetix > Incidental Mutation

Incidental Mutation 'R5518:Catsper2'

431381

Institutional Source

Beutler Lab

Gene Symbol

Catsper2

Ensembl Gene

ENSMUSG00000033486

Gene Name

cation channel, sperm associated 2

Synonyms

MMRRC Submission

043077-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R5518 (G1)

Quality Score

167

Status

Validated

Chromosome

Chromosomal Location

121223112-121244273 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121236844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 268 (T268A)

Ref Sequence

ENSEMBL: ENSMUSP00000037222 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038073
AA Change: T268A

PolyPhen 2 Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000037222
Gene: ENSMUSG00000033486
AA Change: T268A

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

noncoding transcript
Transcript: ENSMUST00000118670

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118847

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123982

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 97.4%
10x: 94.2%
20x: 86.3%

Validation Efficiency

100% (75/75)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	C	T	7: 45,769,873 (GRCm39)	E881K	probably benign	Het
Abcf1	C	T	17: 36,269,233 (GRCm39)	R675K	possibly damaging	Het
Abl1	T	A	2: 31,680,754 (GRCm39)	C349S	probably damaging	Het
Acot11	C	A	4: 106,607,207 (GRCm39)	V459L	probably benign	Het
Ank2	A	T	3: 126,753,348 (GRCm39)	V311D	probably damaging	Het
Ankrd11	C	G	8: 123,617,733 (GRCm39)	E2040Q	possibly damaging	Het
Ankrd26	T	C	6: 118,525,869 (GRCm39)	I359V	probably benign	Het
Armc3	T	G	2: 19,302,739 (GRCm39)	L684V	probably benign	Het
Asb10	G	A	5: 24,744,643 (GRCm39)	P184S	probably damaging	Het
Atp10b	T	C	11: 43,042,463 (GRCm39)	S8P	possibly damaging	Het
Blk	G	T	14: 63,615,956 (GRCm39)	S324R	possibly damaging	Het
C4b	G	C	17: 34,953,416 (GRCm39)	N1022K	probably benign	Het
Card6	G	T	15: 5,134,696 (GRCm39)	T169K	probably damaging	Het
Cbx3	C	T	6: 51,458,726 (GRCm39)	P64S	probably benign	Het
Chchd6	A	G	6: 89,544,567 (GRCm39)		probably null	Het
Cntn1	G	A	15: 92,212,534 (GRCm39)	E899K	probably benign	Het
Col6a4	A	T	9: 105,949,387 (GRCm39)	S749R	possibly damaging	Het
Cpne3	T	G	4: 19,553,779 (GRCm39)	N84T	probably benign	Het
Dcxr	A	C	11: 120,617,025 (GRCm39)		probably benign	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Emsy	T	C	7: 98,242,818 (GRCm39)	Q1107R	possibly damaging	Het
Erbb2	G	T	11: 98,313,596 (GRCm39)	C221F	probably damaging	Het
Exoc3l	T	C	8: 106,019,795 (GRCm39)	N353D	probably benign	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
G3bp2	T	A	5: 92,216,347 (GRCm39)	H63L	probably benign	Het
Galnt17	A	G	5: 130,929,428 (GRCm39)	Y460H	probably damaging	Het
Gm6003	T	A	7: 32,865,004 (GRCm39)		noncoding transcript	Het
Ighv5-12-4	A	G	12: 113,726,154 (GRCm39)	L23P	probably damaging	Het
Ins1	T	C	19: 52,253,177 (GRCm39)	L39P	probably damaging	Het
Itpr3	T	G	17: 27,306,566 (GRCm39)	V210G	probably damaging	Het
Klrb1	T	A	6: 128,683,488 (GRCm39)	T210S	probably benign	Het
Krtap24-1	A	T	16: 88,408,596 (GRCm39)	F177I	probably damaging	Het
Lrrc37	A	T	11: 103,506,079 (GRCm39)	I1963K	probably benign	Het
Mcat	A	G	15: 83,431,875 (GRCm39)		probably null	Het
Mknk2	A	T	10: 80,504,475 (GRCm39)	C229S	possibly damaging	Het
Mta2	C	A	19: 8,925,456 (GRCm39)	Q362K	probably benign	Het
Ndst4	T	C	3: 125,232,105 (GRCm39)	Y225H	probably benign	Het
Or4d11	T	C	19: 12,013,429 (GRCm39)	R226G	probably damaging	Het
Pcdha1	A	G	18: 37,065,415 (GRCm39)	D693G	probably benign	Het
Pik3r5	G	A	11: 68,368,294 (GRCm39)	D100N	possibly damaging	Het
Pld3	T	C	7: 27,231,796 (GRCm39)	D465G	probably damaging	Het
Prkdc	T	C	16: 15,496,172 (GRCm39)	Y788H	probably damaging	Het
Ptprt	T	A	2: 162,120,143 (GRCm39)	D108V	probably damaging	Het
Rasgrp3	T	A	17: 75,823,354 (GRCm39)	M475K	probably benign	Het
Rbak	A	G	5: 143,159,064 (GRCm39)	L663P	probably damaging	Het
Rnf17	A	G	14: 56,719,590 (GRCm39)	N947D	probably damaging	Het
Ryr2	T	C	13: 11,702,795 (GRCm39)	S2898G	probably benign	Het
Serpina1e	A	C	12: 103,917,087 (GRCm39)	L194R	probably damaging	Het
Smg6	T	C	11: 74,944,724 (GRCm39)	S158P	probably damaging	Het
Smtnl2	A	T	11: 72,292,342 (GRCm39)	V269E	possibly damaging	Het
Snx14	G	T	9: 88,265,855 (GRCm39)	P760Q	probably damaging	Het
Sorl1	T	C	9: 41,948,508 (GRCm39)	E759G	possibly damaging	Het
Sspo	C	T	6: 48,473,588 (GRCm39)	T4906M	possibly damaging	Het
Syne2	T	A	12: 75,991,944 (GRCm39)	F1970I	possibly damaging	Het
Tekt3	C	A	11: 62,974,768 (GRCm39)	H362Q	probably benign	Het
Tmem121	T	C	12: 113,152,547 (GRCm39)	V255A	possibly damaging	Het
Tmem201	T	C	4: 149,802,534 (GRCm39)	T614A	probably benign	Het
Tnc	T	C	4: 63,935,916 (GRCm39)	D340G	probably damaging	Het
Ttc28	A	T	5: 111,373,794 (GRCm39)	T1046S	probably benign	Het
Ubxn2a	T	C	12: 4,952,238 (GRCm39)	D8G	probably benign	Het
Vwde	T	C	6: 13,186,937 (GRCm39)	N850S	probably benign	Het
Zfp280d	A	G	9: 72,231,417 (GRCm39)	H451R	probably damaging	Het
Zfp462	T	C	4: 55,009,818 (GRCm39)	C595R	probably damaging	Het
Zfp768	A	G	7: 126,943,583 (GRCm39)	S182P	probably benign	Het

Other mutations in Catsper2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00649:Catsper2	APN	2	121,228,373 (GRCm39)	splice site	probably benign
IGL01830:Catsper2	APN	2	121,237,843 (GRCm39)	missense	probably damaging	1.00
IGL03243:Catsper2	APN	2	121,237,300 (GRCm39)	missense	probably benign	0.08
IGL03247:Catsper2	APN	2	121,240,681 (GRCm39)	missense	probably benign	0.03
IGL03342:Catsper2	APN	2	121,237,217 (GRCm39)	missense	probably damaging	0.99
FR4304:Catsper2	UTSW	2	121,228,263 (GRCm39)	utr 3 prime	probably benign
FR4304:Catsper2	UTSW	2	121,228,023 (GRCm39)	nonsense	probably null
FR4342:Catsper2	UTSW	2	121,228,274 (GRCm39)	utr 3 prime	probably benign
FR4589:Catsper2	UTSW	2	121,228,260 (GRCm39)	utr 3 prime	probably benign
FR4737:Catsper2	UTSW	2	121,228,021 (GRCm39)	utr 3 prime	probably benign
FR4976:Catsper2	UTSW	2	121,228,263 (GRCm39)	utr 3 prime	probably benign
FR4976:Catsper2	UTSW	2	121,228,260 (GRCm39)	utr 3 prime	probably benign
FR4976:Catsper2	UTSW	2	121,228,023 (GRCm39)	utr 3 prime	probably benign
FR4976:Catsper2	UTSW	2	121,228,276 (GRCm39)	utr 3 prime	probably benign
R1463:Catsper2	UTSW	2	121,236,927 (GRCm39)	missense	probably damaging	1.00
R1686:Catsper2	UTSW	2	121,230,523 (GRCm39)	critical splice donor site	probably null
R2006:Catsper2	UTSW	2	121,236,838 (GRCm39)	nonsense	probably null
R2163:Catsper2	UTSW	2	121,230,656 (GRCm39)	missense	probably damaging	1.00
R4543:Catsper2	UTSW	2	121,237,890 (GRCm39)	nonsense	probably null
R4888:Catsper2	UTSW	2	121,227,604 (GRCm39)	splice site	probably null
R5121:Catsper2	UTSW	2	121,227,604 (GRCm39)	splice site	probably null
R5323:Catsper2	UTSW	2	121,237,216 (GRCm39)	missense	probably damaging	1.00
R5605:Catsper2	UTSW	2	121,227,533 (GRCm39)	missense	possibly damaging	0.91
R6521:Catsper2	UTSW	2	121,237,288 (GRCm39)	missense	probably damaging	1.00
R6531:Catsper2	UTSW	2	121,230,261 (GRCm39)	missense	possibly damaging	0.67
R7055:Catsper2	UTSW	2	121,228,053 (GRCm39)	utr 3 prime	probably benign
R7138:Catsper2	UTSW	2	121,227,544 (GRCm39)	missense	possibly damaging	0.85
R7240:Catsper2	UTSW	2	121,228,053 (GRCm39)	utr 3 prime	probably benign
R7247:Catsper2	UTSW	2	121,228,053 (GRCm39)	utr 3 prime	probably benign
R7686:Catsper2	UTSW	2	121,227,937 (GRCm39)	splice site	probably null
R8385:Catsper2	UTSW	2	121,240,621 (GRCm39)	missense	possibly damaging	0.46
R8426:Catsper2	UTSW	2	121,228,053 (GRCm39)	utr 3 prime	probably benign
R9086:Catsper2	UTSW	2	121,228,053 (GRCm39)	utr 3 prime	probably benign
R9584:Catsper2	UTSW	2	121,230,301 (GRCm39)	missense	probably damaging	0.99
R9616:Catsper2	UTSW	2	121,228,053 (GRCm39)	utr 3 prime	probably benign
R9646:Catsper2	UTSW	2	121,228,053 (GRCm39)	utr 3 prime	probably benign
R9708:Catsper2	UTSW	2	121,237,321 (GRCm39)	missense	possibly damaging	0.46
RF028:Catsper2	UTSW	2	121,228,207 (GRCm39)	utr 3 prime	probably benign
Z1176:Catsper2	UTSW	2	121,237,866 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TCAGAGCTGCAGCACTCATC -3'
(R):5'- AGTCAAATACGGTCATGAAAGGTTC -3'

Sequencing Primer
(F):5'- GCTGCAGCACTCATCATGCC -3'
(R):5'- CGGTCATGAAAGGTTCTTAAAAGTG -3'

Posted On

2016-10-05