Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02419:Catsper3'

292585

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Catsper3

Ensembl Gene

ENSMUSG00000021499

Gene Name

cation channel, sperm associated 3

Synonyms

4921522D01Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02419

Quality Score

Status

Chromosome

Chromosomal Location

55932381-55956811 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55955881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 329 (T329S)

Ref Sequence

ENSEMBL: ENSMUSP00000021961 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021961] [ENSMUST00000109898]

AlphaFold

Q80W99

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021961
AA Change: T329S

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000021961
Gene: ENSMUSG00000021499
AA Change: T329S

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	49	277	1.8e-33	PFAM
Pfam:PKD_channel	144	273	5e-7	PFAM
coiled coil region	283	311	N/A	INTRINSIC
low complexity region	387	395	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109898
AA Change: T316S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000105524
Gene: ENSMUSG00000021499
AA Change: T316S

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	72	254	4.9e-32	PFAM
Pfam:PKD_channel	125	261	2.1e-7	PFAM
coiled coil region	270	298	N/A	INTRINSIC
low complexity region	374	382	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for this mutation are viable and exhibit no gross physical or behavioral abnormality. Although wild-type and homozygous mutant females bred to wild-type males exhibit similar fertility, male homozygotes are infertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	T	C	8: 88,312,727 (GRCm39)	F171L	possibly damaging	Het
Abca2	A	G	2: 25,336,849 (GRCm39)	N2291D	probably benign	Het
Adamts9	A	G	6: 92,773,978 (GRCm39)	V1145A	probably benign	Het
Adcy2	A	G	13: 69,130,482 (GRCm39)	V135A	probably benign	Het
Akr1c14	A	T	13: 4,130,617 (GRCm39)		probably null	Het
Aptx	G	T	4: 40,691,032 (GRCm39)	A229E	probably benign	Het
Ash1l	T	C	3: 88,892,872 (GRCm39)	S1584P	probably benign	Het
Cntrl	A	G	2: 35,024,055 (GRCm39)	D27G	probably damaging	Het
Cobll1	A	T	2: 64,981,392 (GRCm39)	I98K	probably damaging	Het
Ctdp1	T	C	18: 80,463,799 (GRCm39)	K79R	probably damaging	Het
Cwf19l2	T	C	9: 3,418,777 (GRCm39)		probably null	Het
Cyp11b2	A	T	15: 74,722,904 (GRCm39)	F498Y	probably damaging	Het
Dnpep	A	G	1: 75,292,332 (GRCm39)	I162T	probably damaging	Het
Efcab9	T	C	11: 32,472,950 (GRCm39)	I166V	probably benign	Het
Ep400	A	T	5: 110,845,242 (GRCm39)		probably null	Het
Gata6	G	A	18: 11,054,220 (GRCm39)	G50R	probably damaging	Het
Gm9631	G	A	11: 121,834,478 (GRCm39)			Het
Grifin	T	C	5: 140,550,455 (GRCm39)	T20A	probably benign	Het
Hnf4a	A	T	2: 163,408,202 (GRCm39)	I352F	probably damaging	Het
Ifi204	T	C	1: 173,576,946 (GRCm39)	T552A	possibly damaging	Het
Ifi205	C	T	1: 173,845,180 (GRCm39)	A201T	probably damaging	Het
Kcnk6	A	G	7: 28,924,627 (GRCm39)	V259A	probably benign	Het
Kif21b	A	G	1: 136,079,005 (GRCm39)	N451S	probably benign	Het
Klhl24	T	A	16: 19,926,118 (GRCm39)	Y215*	probably null	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Mical1	A	G	10: 41,358,273 (GRCm39)	K429E	possibly damaging	Het
Misp	A	G	10: 79,663,705 (GRCm39)		probably benign	Het
Mon2	T	C	10: 122,852,352 (GRCm39)	N1007S	probably benign	Het
Or10v1	A	T	19: 11,874,186 (GRCm39)	Y267F	probably benign	Het
Or14a260	C	A	7: 85,984,870 (GRCm39)	V245F	probably damaging	Het
Or51v8	A	T	7: 103,319,682 (GRCm39)	C185*	probably null	Het
Or8k41	T	A	2: 86,313,259 (GRCm39)	I276F	probably damaging	Het
Pex6	C	A	17: 47,035,361 (GRCm39)	T840N	possibly damaging	Het
Prox1	C	T	1: 189,893,327 (GRCm39)	A373T	probably benign	Het
Rapgef3	G	T	15: 97,648,171 (GRCm39)	N679K	probably benign	Het
Serpina3n	T	C	12: 104,379,777 (GRCm39)	V390A	possibly damaging	Het
Sirpb1a	A	G	3: 15,491,398 (GRCm39)	F23S	probably benign	Het
Slc44a3	T	C	3: 121,283,906 (GRCm39)	T449A	probably benign	Het
Smad6	G	A	9: 63,860,800 (GRCm39)		probably benign	Het
Sos2	C	T	12: 69,663,764 (GRCm39)	M573I	probably benign	Het
St8sia1	A	T	6: 142,774,661 (GRCm39)	I306N	probably damaging	Het
Tnks1bp1	T	C	2: 84,902,125 (GRCm39)	S1674P	possibly damaging	Het
Trim47	G	A	11: 115,997,027 (GRCm39)	R576W	probably damaging	Het
Wdr86	A	T	5: 24,927,702 (GRCm39)	I79N	probably damaging	Het
Wwp2	T	A	8: 108,276,447 (GRCm39)	V473D	probably damaging	Het
Zc3h12a	T	C	4: 125,013,581 (GRCm39)	T428A	probably benign	Het
Zfp592	A	G	7: 80,687,993 (GRCm39)	E973G	probably damaging	Het

Other mutations in Catsper3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Catsper3	APN	13	55,946,635 (GRCm39)	missense	possibly damaging	0.94
IGL01794:Catsper3	APN	13	55,946,719 (GRCm39)	missense	possibly damaging	0.84
IGL03108:Catsper3	APN	13	55,955,848 (GRCm39)	missense	probably benign	0.01
R0241:Catsper3	UTSW	13	55,952,667 (GRCm39)	missense	probably damaging	1.00
R0241:Catsper3	UTSW	13	55,952,667 (GRCm39)	missense	probably damaging	1.00
R1870:Catsper3	UTSW	13	55,953,561 (GRCm39)	missense	probably damaging	1.00
R2229:Catsper3	UTSW	13	55,955,867 (GRCm39)	missense	probably damaging	1.00
R3055:Catsper3	UTSW	13	55,956,709 (GRCm39)	missense	unknown
R3056:Catsper3	UTSW	13	55,956,709 (GRCm39)	missense	unknown
R4092:Catsper3	UTSW	13	55,932,484 (GRCm39)	missense	probably benign	0.00
R4113:Catsper3	UTSW	13	55,934,183 (GRCm39)	missense	probably damaging	0.99
R5197:Catsper3	UTSW	13	55,955,989 (GRCm39)	critical splice donor site	probably null
R6011:Catsper3	UTSW	13	55,934,305 (GRCm39)	missense	probably damaging	0.96
R6064:Catsper3	UTSW	13	55,954,065 (GRCm39)	missense	probably damaging	0.99
R6385:Catsper3	UTSW	13	55,934,239 (GRCm39)	missense	probably damaging	0.99
R6966:Catsper3	UTSW	13	55,946,672 (GRCm39)	missense	probably damaging	0.98
R7128:Catsper3	UTSW	13	55,946,662 (GRCm39)	missense	probably benign	0.00
R7373:Catsper3	UTSW	13	55,955,945 (GRCm39)	missense	possibly damaging	0.87
R7565:Catsper3	UTSW	13	55,932,538 (GRCm39)	missense	probably benign	0.10
R8712:Catsper3	UTSW	13	55,953,657 (GRCm39)	missense	probably benign	0.20
R8879:Catsper3	UTSW	13	55,952,708 (GRCm39)	missense	probably benign	0.01
R9029:Catsper3	UTSW	13	55,954,147 (GRCm39)	missense	probably damaging	1.00
R9231:Catsper3	UTSW	13	55,946,705 (GRCm39)	missense	possibly damaging	0.78
R9397:Catsper3	UTSW	13	55,946,725 (GRCm39)	missense	probably damaging	0.99
R9570:Catsper3	UTSW	13	55,953,669 (GRCm39)	critical splice donor site	probably null
R9733:Catsper3	UTSW	13	55,946,752 (GRCm39)	missense	probably damaging	1.00
Z1088:Catsper3	UTSW	13	55,955,917 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16