Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01794:Catsper3'

155295

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 #

IGL01794

Quality Score

Status

Chromosome

Chromosomal Location

55932381-55956811 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55946719 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 139 (S139P)

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: S139P

PolyPhen 2 Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021961
Gene: ENSMUSG00000021499
AA Change: S139P

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

possibly damaging
Transcript: ENSMUST00000109898
AA Change: S126P

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105524
Gene: ENSMUSG00000021499
AA Change: S126P

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	C	T	6: 91,895,093 (GRCm39)	R263*	probably null	Het
Appl2	A	G	10: 83,450,158 (GRCm39)	V238A	probably benign	Het
Bcl2l11	T	A	2: 127,970,568 (GRCm39)	S6T	probably damaging	Het
Bptf	A	G	11: 106,944,047 (GRCm39)		probably null	Het
Cdh3	A	G	8: 107,263,758 (GRCm39)	N192S	possibly damaging	Het
Dsc1	A	T	18: 20,243,240 (GRCm39)	I71N	probably damaging	Het
Fbxw2	A	G	2: 34,701,131 (GRCm39)		probably benign	Het
Gad1	G	T	2: 70,427,512 (GRCm39)	V473L	probably benign	Het
Golm2	T	A	2: 121,742,407 (GRCm39)	N206K	probably benign	Het
Gtpbp1	C	T	15: 79,600,447 (GRCm39)	T460I	probably damaging	Het
Krt16	G	A	11: 100,138,731 (GRCm39)	T185I	probably benign	Het
Mapk1ip1	C	T	7: 138,438,426 (GRCm39)	M1I	probably null	Het
Nt5e	A	T	9: 88,249,351 (GRCm39)	L428F	probably damaging	Het
Or5p54	A	G	7: 107,554,502 (GRCm39)	Y218C	probably damaging	Het
Pah	G	T	10: 87,414,784 (GRCm39)	V379F	possibly damaging	Het
Scn7a	T	C	2: 66,505,853 (GRCm39)	T1679A	probably benign	Het
Sdccag8	T	A	1: 176,672,873 (GRCm39)	H293Q	possibly damaging	Het
Spmip4	T	C	6: 50,554,826 (GRCm39)	I268M	probably damaging	Het
Suco	A	G	1: 161,655,294 (GRCm39)	M1066T	probably benign	Het
Trim9	A	G	12: 70,328,654 (GRCm39)	Y369H	probably damaging	Het
Usp34	G	A	11: 23,386,020 (GRCm39)	R2149H	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
IGL02419:Catsper3	APN	13	55,955,881 (GRCm39)	missense	possibly damaging	0.94
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

2014-02-04