Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4342:Catsper2'

511205

Institutional Source

Beutler Lab

Gene Symbol

Catsper2

Ensembl Gene

ENSMUSG00000033486

Gene Name

cation channel, sperm associated 2

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

FR4342 ()

Quality Score

210.468

Status

Not validated

Chromosome

Chromosomal Location

121392631-121413792 bp(-) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

TCA to TCAACA at 121397793 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119091 (fasta)

Gene Model

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

AlphaFold

no structure available at present

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

noncoding transcript
Transcript: ENSMUST00000118847

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146521

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: 99.7%
3x: 99.4%
10x: 97.8%
20x: 93.8%

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. 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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	TT	TTATGT	8: 124,839,833		probably null	Homo
4930402H24Rik	TCC	TCCCCC	2: 130,770,742		probably benign	Het
4930433I11Rik	AACC	A	7: 40,993,055		probably benign	Het
4930548H24Rik	GAGAAG	GAG	5: 31,487,373		probably benign	Homo
7530416G11Rik	T	A	15: 85,494,307	E45V	unknown	Homo
AF366264	G	C	8: 13,837,613	H159Q	probably benign	Het
Ankrd35	TCCCC	TCCC	3: 96,683,515		probably null	Het
Anxa2	CCC	CCCACC	9: 69,480,205		probably benign	Het
Anxa2	C	CCCA	9: 69,480,210		probably benign	Het
Apc	CAATAAAGC	CAATAAAGCAAATAAAGC	18: 34,281,999		probably benign	Homo
Arrb2	C	T	11: 70,438,671	T269M	probably damaging	Homo
Bcas3	G	A	11: 85,509,497	V431I	probably benign	Homo
Begain	CCCCGCC	CCCCGCCCCCGCC	12: 109,033,418		probably benign	Homo
Cd164	G	T	10: 41,521,926	A59S	probably benign	Homo
Cd22	C	T	7: 30,878,082	R2H	possibly damaging	Homo
Cluh	GAGCCT	GAGCCTCAGCCT	11: 74,669,524		probably benign	Het
Cluh	GCCTGA	GCCTGAACCTGA	11: 74,669,526		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,189,575		probably benign	Het
Col2a1	C	A	15: 97,988,981		probably null	Het
Col6a5	A	T	9: 105,934,174	N715K	unknown	Homo
Cpeb4	T	TGA	11: 31,927,638		probably benign	Homo
D230025D16Rik	G	A	8: 105,241,098	G207E	probably benign	Homo
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,583,680		probably benign	Het
Defa29	C	G	8: 21,326,144	R69P	probably benign	Het
Dhx8	CG	CGAGAACGG	11: 101,738,206		probably null	Het
Dnah12	G	T	14: 26,849,385	G2817V	probably damaging	Homo
Dthd1	C	CTTA	5: 62,843,026		probably benign	Homo
E4f1	GC	GCCCC	17: 24,455,197		probably benign	Het
F830016B08Rik	A	ACAG	18: 60,299,941		probably benign	Homo
Fam166b	CAGAG	CAG	4: 43,427,384		probably null	Homo
Fbrsl1	GTGTGTGTGCTGGTGCGTGTGCTGGTG	GTGTGTGTGCTGGTGTGTGTGCTGGTGCGTGTGCTGGTG	5: 110,378,125		probably benign	Het
Fbxo22	A	C	9: 55,221,070		probably null	Het
Flg	G	A	3: 93,290,513		probably benign	Het
Fmn1	TCC	TCCTCCACC	2: 113,525,783		probably benign	Homo
Frmpd2	G	T	14: 33,511,021	L399F	probably damaging	Homo
Gbp2b	A	G	3: 142,603,652	I175V	probably benign	Het
Gjc2	T	TCCCG	11: 59,182,743		probably benign	Homo
Gm13103	AA	AATA	4: 143,851,643		probably null	Homo
Gm14496	A	C	2: 181,995,906	K258Q	probably benign	Het
Gm4340	CAGAAG	CAGAAGAAG	10: 104,196,066		probably benign	Het
Gm4340	CAGAAG	CAGAAGAAG	10: 104,196,099		probably benign	Het
Gm7534	G	GCTC	4: 134,202,631		probably benign	Homo
Gpatch11	AGAGGA	AGAGGATGAGGA	17: 78,842,178		probably benign	Het
H2-Q4	G	A	17: 35,380,405	D155N	probably damaging	Homo
Hist1h1t	TGTGG	TG	13: 23,695,913		probably benign	Homo
Hoxa3	G	GCTT	6: 52,170,130		probably benign	Homo
Ifi208	ATGGTG	ATG	1: 173,677,698		probably benign	Homo
Ighv5-9	C	T	12: 113,661,877	S82N	probably benign	Homo
Klra10	G	A	6: 130,272,747	R192C	probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,586,375		probably benign	Het
Krt10	CGCC	CGCCGCC	11: 99,386,199		probably benign	Het
Krt10	ACC	ACCCCC	11: 99,386,203		probably benign	Homo
Lce1m	CGCTGCTGCTGCCACAGCA	C	3: 93,018,247		probably benign	Het
Mak16	T	G,A	8: 31,161,749	E203D	probably benign	Homo
Med12l	AGC	AGCGGC	3: 59,275,988		probably benign	Het
Med12l	AGCGGC	AGCGGCGGC	3: 59,275,994		probably benign	Het
Mn1	AGC	AGCGGC	5: 111,419,706		probably benign	Het
Nacad	TC	TCAGGGGC	11: 6,599,762		probably benign	Het
Naip1	C	T	13: 100,425,471	R1062K	probably benign	Het
Ndel1	G	A	11: 68,833,409	P246L	probably damaging	Het
Nelfe	AC	ACAAAGAGCGGGATCGAGACAGAGCC	17: 34,854,089		probably benign	Het
Olfr495	A	G	7: 108,395,893	T258A	probably benign	Het
Olfr495	G	A	7: 108,395,898	M259I	probably benign	Het
Olfr635	TCC	TCCC	7: 103,979,903		probably null	Het
P4ha2	GTGTTGCTG	GTG	11: 54,110,251		probably benign	Homo
Park2	G	A	17: 11,854,763	V323M	probably damaging	Homo
Pde3b	GGTGGTGGTG	GGTGGTGGTGGTG	7: 114,534,775		probably benign	Homo
Pdik1l	ACCACC	ACCACCCCCACC	4: 134,279,509		probably benign	Homo
Plekhs1	TCCAGAC	TCCAGACCTCCCCCCAGAC	19: 56,479,858		probably benign	Homo
Plekhs1	AGAC	AGACCTCCCCCGCGAC	19: 56,479,861		probably benign	Homo
Pramef25	G	A	4: 143,949,742	T264M	probably damaging	Het
Pramef25	AAGAG	AAG	4: 143,949,757		probably null	Het
Ptms	TCT	TCTCCT	6: 124,914,454		probably benign	Homo
Raet1d	A	G	10: 22,371,559	Q178R	probably benign	Het
Rtbdn	AGCG	AGCGCCGGCG	8: 84,956,168		probably benign	Het
Rtbdn	GC	GCAGCGCC	8: 84,956,178		probably benign	Het
Serac1	T	A	17: 6,070,808	K70N	probably damaging	Homo
Sfswap	CCCACTC	CCCACTCAGACCACTC	5: 129,569,757		probably benign	Homo
Sp110	ACT	ACTGCT	1: 85,587,488		probably benign	Het
Spaca1	GCTCTC	GCTCTCACTCTC	4: 34,049,838		probably benign	Het
Spag17	GGA	GGATGA	3: 100,056,249		probably benign	Het
Spag17	GGAGGAGGA	GGAGGAGGAGGA	3: 100,056,252		probably benign	Homo
Speer4a	C	A	5: 26,036,748	E127*	probably null	Het
Sry	TGG	TGGGGG	Y: 2,662,835		probably benign	Het
Sry	GGT	GGTTGT	Y: 2,662,836		probably benign	Het
Sry	GGT	GGTAGT	Y: 2,662,839		probably benign	Homo
Sry	CTGCTGGTG	CTG	Y: 2,663,146		probably benign	Het
Tdpoz3	C	T	3: 93,826,512	P165S	probably benign	Het
Tdpoz4	GAA	GA	3: 93,796,880		probably null	Het
Tert	AGGCC	AGGCCAAGGGGGCC	13: 73,648,300		probably benign	Homo
Tmbim7	C	T	5: 3,670,064	R100C	possibly damaging	Homo
Tnfrsf9	CT	CTGAT	4: 150,934,394		probably benign	Homo
Tob1	AGC	AGCCGC	11: 94,214,472		probably benign	Het
Trav6n-5	GCTT	G	14: 53,104,912		probably benign	Homo
Triobp	G	GTCA	15: 78,993,392		probably benign	Homo
Tsen2	AGG	AGGTGG	6: 115,560,072		probably benign	Het
Ubtf	TCC	TCCGCC	11: 102,306,956		probably benign	Het
Ubtf	TC	TCCCC	11: 102,306,959		probably benign	Het
Vmn2r125	G	A	4: 156,350,965	V213I	probably benign	Het
Vmn2r87	C	T	10: 130,478,714	M334I	probably benign	Homo
Zdhhc16	G	A	19: 41,942,149		probably benign	Het
Zfp28	G	A	7: 6,394,863	G766R	probably damaging	Het
Zfp335	GTCGTC	GTCGTCGTC	2: 164,907,465		probably benign	Het
Zfp335	C	CCCC	2: 164,907,477		probably benign	Het
Zfp428	G	A	7: 24,515,081	D41N	probably damaging	Homo
Zfp429	A	T	13: 67,396,650	F48Y	probably benign	Het
Zfp598	CCACC	CCACCCACACC	17: 24,680,780		probably benign	Het
Zfp93	G	A	7: 24,275,586	R332H	possibly damaging	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
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
R7240:Catsper2	UTSW	2	121397572	utr 3 prime	probably benign
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
R9086:Catsper2	UTSW	2	121397572	utr 3 prime	probably benign
R9584:Catsper2	UTSW	2	121399820	missense	probably damaging	0.99
R9616:Catsper2	UTSW	2	121397572	utr 3 prime	probably benign
R9646:Catsper2	UTSW	2	121397572	utr 3 prime	probably benign
R9708:Catsper2	UTSW	2	121406840	missense	possibly damaging	0.46
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'- TTCTCAGGATGGCTTTTCTCAG -3'
(R):5'- AGCTGTAAGCCAAAGCCTTAGG -3'

Sequencing Primer
(F):5'- CTCAGGATAGCTTTTCTCAGGATG -3'
(R):5'- AAGCCTTAGGGACGCCAGATC -3'

Posted On

2018-04-05