Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01667:Catsperg2'

103345

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Catsperg2

Ensembl Gene

ENSMUSG00000049123

Gene Name

cation channel sperm associated auxiliary subunit gamma 2

Synonyms

1700067C01Rik, CATSPERG

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

IGL01667

Quality Score

Status

Chromosome

Chromosomal Location

29697219-29727032 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29710133 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 545 (Y545C)

Ref Sequence

ENSEMBL: ENSMUSP00000147099 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061193] [ENSMUST00000207115] [ENSMUST00000208371] [ENSMUST00000208607] [ENSMUST00000209126]

Predicted Effect

probably damaging
Transcript: ENSMUST00000061193
AA Change: Y545C

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000052285
Gene: ENSMUSG00000049123
AA Change: Y545C

Domain	Start	End	E-Value	Type
Pfam:CATSPERG	2	973	N/A	PFAM
transmembrane domain	1065	1087	N/A	INTRINSIC
low complexity region	1106	1118	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207115

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207251

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207483

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208345

Predicted Effect

probably benign
Transcript: ENSMUST00000208371

Predicted Effect

probably damaging
Transcript: ENSMUST00000208607
AA Change: Y545C

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209126
AA Change: Y545C

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	A	G	7: 75,570,019	T57A	probably damaging	Het
Akna	G	T	4: 63,379,159	T886N	probably benign	Het
Aqp9	A	G	9: 71,138,213	V38A	probably benign	Het
Awat2	C	T	X: 100,404,254	G124D	probably damaging	Het
Camsap1	A	G	2: 25,945,281		probably benign	Het
Cldn23	A	G	8: 35,825,920	F138S	possibly damaging	Het
Clec4a3	A	C	6: 122,952,860		probably benign	Het
Dlgap3	C	A	4: 127,233,897	T786K	probably benign	Het
Dnah2	A	C	11: 69,544,395	S50A	probably benign	Het
Dnah2	A	T	11: 69,520,941	I285N	probably damaging	Het
Dnah7a	A	G	1: 53,547,292	Y1467H	probably damaging	Het
Fgf22	C	T	10: 79,756,754	P115L	probably damaging	Het
Fzd2	G	T	11: 102,605,782	V351L	possibly damaging	Het
Gapdhs	T	A	7: 30,736,637	E174V	possibly damaging	Het
Gjc2	A	C	11: 59,177,518	I46S	probably damaging	Het
Gm5581	T	C	6: 131,167,772		noncoding transcript	Het
Krt2	C	A	15: 101,816,330	V282L	possibly damaging	Het
Myh15	G	A	16: 49,195,579	V1873M	probably benign	Het
Myo1b	T	C	1: 51,760,377	T931A	probably damaging	Het
Myo6	A	T	9: 80,289,893	K965N	unknown	Het
Olfr1441	T	C	19: 12,422,756	V149A	probably benign	Het
Pcnx3	T	C	19: 5,686,630	R160G	probably benign	Het
Slc22a16	T	C	10: 40,585,018	I272T	probably damaging	Het
Slc35b4	A	G	6: 34,167,675	Y82H	possibly damaging	Het
Spdya	T	C	17: 71,556,259	M1T	probably null	Het
St6gal1	A	G	16: 23,321,424	N115S	probably benign	Het
Tbc1d12	A	T	19: 38,914,300		probably benign	Het
Tfrc	A	G	16: 32,624,443		probably benign	Het
Trip11	A	C	12: 101,878,862	F1539C	probably damaging	Het
Ttn	A	T	2: 76,781,078	I15624N	possibly damaging	Het
Vmn1r169	A	T	7: 23,577,800	M206L	probably benign	Het
Zfp362	A	G	4: 128,787,109	L141P	probably damaging	Het
Zfp692	A	G	11: 58,311,553	H378R	probably damaging	Het
Zfp799	T	C	17: 32,821,820	Q52R	possibly damaging	Het

Other mutations in Catsperg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Catsperg2	APN	7	29705404	missense	possibly damaging	0.86
IGL00095:Catsperg2	APN	7	29698058	missense	possibly damaging	0.73
IGL00902:Catsperg2	APN	7	29701143	missense	possibly damaging	0.93
IGL01791:Catsperg2	APN	7	29704665	splice site	probably null
IGL01961:Catsperg2	APN	7	29721672	splice site	probably benign
IGL02187:Catsperg2	APN	7	29721366	missense	probably benign	0.02
IGL02605:Catsperg2	APN	7	29719565	missense	possibly damaging	0.71
IGL03001:Catsperg2	APN	7	29725079	missense	probably benign	0.32
IGL03228:Catsperg2	APN	7	29698225	missense	probably damaging	0.96
IGL03239:Catsperg2	APN	7	29697716	missense	probably benign	0.04
IGL03242:Catsperg2	APN	7	29725479	unclassified	probably benign
IGL03247:Catsperg2	APN	7	29717048	missense	possibly damaging	0.71
IGL03256:Catsperg2	APN	7	29709874	missense	probably damaging	0.99
PIT4520001:Catsperg2	UTSW	7	29710161	missense	possibly damaging	0.93
R0052:Catsperg2	UTSW	7	29725020	splice site	probably benign
R0281:Catsperg2	UTSW	7	29706571	missense	possibly damaging	0.86
R0357:Catsperg2	UTSW	7	29714901	missense	possibly damaging	0.93
R0480:Catsperg2	UTSW	7	29721298	missense	probably damaging	0.98
R0578:Catsperg2	UTSW	7	29704691	missense	possibly damaging	0.71
R0732:Catsperg2	UTSW	7	29700696	missense	probably damaging	1.00
R0826:Catsperg2	UTSW	7	29705624	missense	possibly damaging	0.92
R1535:Catsperg2	UTSW	7	29698246	missense	possibly damaging	0.85
R1925:Catsperg2	UTSW	7	29697764	missense	probably benign	0.01
R1990:Catsperg2	UTSW	7	29721045	nonsense	probably null
R3433:Catsperg2	UTSW	7	29701218	missense	possibly damaging	0.71
R3721:Catsperg2	UTSW	7	29705102	missense	probably benign	0.02
R4020:Catsperg2	UTSW	7	29717004	missense	probably damaging	0.99
R4760:Catsperg2	UTSW	7	29705635	missense	probably damaging	0.99
R4829:Catsperg2	UTSW	7	29701125	missense	probably damaging	0.98
R5033:Catsperg2	UTSW	7	29710134	missense	possibly damaging	0.93
R5093:Catsperg2	UTSW	7	29716998	missense	probably benign	0.32
R5266:Catsperg2	UTSW	7	29717066	missense	probably damaging	0.98
R5267:Catsperg2	UTSW	7	29717066	missense	probably damaging	0.98
R5287:Catsperg2	UTSW	7	29697838	missense	possibly damaging	0.96
R5427:Catsperg2	UTSW	7	29714850	missense	possibly damaging	0.71
R5575:Catsperg2	UTSW	7	29705590	missense	possibly damaging	0.84
R5685:Catsperg2	UTSW	7	29701188	missense	probably damaging	1.00
R5844:Catsperg2	UTSW	7	29697832	missense	possibly damaging	0.96
R5982:Catsperg2	UTSW	7	29713017	missense	possibly damaging	0.51
R6662:Catsperg2	UTSW	7	29719513	start gained	probably benign
R6744:Catsperg2	UTSW	7	29709819	missense	probably benign	0.23
R7171:Catsperg2	UTSW	7	29705325	missense	possibly damaging	0.71
R7239:Catsperg2	UTSW	7	29710082	missense	probably benign	0.00
R7336:Catsperg2	UTSW	7	29706601	missense	possibly damaging	0.83
R7498:Catsperg2	UTSW	7	29717102	missense	possibly damaging	0.71
R7548:Catsperg2	UTSW	7	29709826	missense	probably benign	0.32
R7562:Catsperg2	UTSW	7	29697719	missense	probably benign	0.18
R7565:Catsperg2	UTSW	7	29712981	missense	probably null	0.71
R7600:Catsperg2	UTSW	7	29704858	missense	probably benign	0.32
R8460:Catsperg2	UTSW	7	29705319	missense	possibly damaging	0.92
R8461:Catsperg2	UTSW	7	29705319	missense	possibly damaging	0.92
Z1177:Catsperg2	UTSW	7	29697782	missense	possibly damaging	0.96

Posted On

2014-01-21