Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03239:Catsperg2'

414207

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

CATSPERG, 1700067C01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

IGL03239

Quality Score

Status

Chromosome

Chromosomal Location

29396644-29426457 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 29397141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 1121 (S1121R)

Ref Sequence

ENSEMBL: ENSMUSP00000147099 (fasta)

Gene Model

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

AlphaFold

C6KI89

Predicted Effect

probably benign
Transcript: ENSMUST00000061193
AA Change: S1121R

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000052285
Gene: ENSMUSG00000049123
AA Change: S1121R

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

probably benign
Transcript: ENSMUST00000208371

Predicted Effect

probably benign
Transcript: ENSMUST00000208607

Predicted Effect

probably benign
Transcript: ENSMUST00000209126
AA Change: S1121R

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	T	C	5: 99,381,835 (GRCm39)	Y309C	probably damaging	Het
Arvcf	G	T	16: 18,214,932 (GRCm39)	V44L	probably damaging	Het
Ccdc190	G	T	1: 169,761,549 (GRCm39)	R217L	probably benign	Het
Chd8	G	A	14: 52,465,005 (GRCm39)	P619S	possibly damaging	Het
Cyp17a1	A	T	19: 46,655,796 (GRCm39)	W498R	probably damaging	Het
Dgka	A	G	10: 128,557,254 (GRCm39)		probably benign	Het
Ep300	A	G	15: 81,525,589 (GRCm39)	D1471G	unknown	Het
Htr2b	A	G	1: 86,027,414 (GRCm39)	F364S	probably damaging	Het
Kcnv1	A	G	15: 44,972,886 (GRCm39)		probably benign	Het
Lrrc37a	T	C	11: 103,390,233 (GRCm39)	T1731A	probably benign	Het
Mylip	A	G	13: 45,560,101 (GRCm39)	E179G	possibly damaging	Het
Olfm3	A	G	3: 114,916,243 (GRCm39)	R392G	probably damaging	Het
Pbk	T	A	14: 66,054,667 (GRCm39)	D266E	probably benign	Het
Pcdhb13	C	A	18: 37,575,888 (GRCm39)	L89M	probably damaging	Het
Pgap4	T	C	4: 49,586,034 (GRCm39)	Y378C	probably damaging	Het
Prdm5	T	G	6: 65,863,062 (GRCm39)		probably benign	Het
Rab3gap2	A	G	1: 184,982,091 (GRCm39)	D381G	probably damaging	Het
Sec24d	A	G	3: 123,130,138 (GRCm39)	N434D	probably benign	Het
Usp17la	C	T	7: 104,509,827 (GRCm39)	T144I	possibly damaging	Het
Usp35	T	C	7: 96,970,799 (GRCm39)	T336A	possibly damaging	Het

Other mutations in Catsperg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Catsperg2	APN	7	29,404,829 (GRCm39)	missense	possibly damaging	0.86
IGL00095:Catsperg2	APN	7	29,397,483 (GRCm39)	missense	possibly damaging	0.73
IGL00902:Catsperg2	APN	7	29,400,568 (GRCm39)	missense	possibly damaging	0.93
IGL01667:Catsperg2	APN	7	29,409,558 (GRCm39)	missense	probably damaging	0.98
IGL01791:Catsperg2	APN	7	29,404,090 (GRCm39)	splice site	probably null
IGL01961:Catsperg2	APN	7	29,421,097 (GRCm39)	splice site	probably benign
IGL02187:Catsperg2	APN	7	29,420,791 (GRCm39)	missense	probably benign	0.02
IGL02605:Catsperg2	APN	7	29,418,990 (GRCm39)	missense	possibly damaging	0.71
IGL03001:Catsperg2	APN	7	29,424,504 (GRCm39)	missense	probably benign	0.32
IGL03228:Catsperg2	APN	7	29,397,650 (GRCm39)	missense	probably damaging	0.96
IGL03242:Catsperg2	APN	7	29,424,904 (GRCm39)	unclassified	probably benign
IGL03247:Catsperg2	APN	7	29,416,473 (GRCm39)	missense	possibly damaging	0.71
IGL03256:Catsperg2	APN	7	29,409,299 (GRCm39)	missense	probably damaging	0.99
PIT4520001:Catsperg2	UTSW	7	29,409,586 (GRCm39)	missense	possibly damaging	0.93
R0052:Catsperg2	UTSW	7	29,424,445 (GRCm39)	splice site	probably benign
R0281:Catsperg2	UTSW	7	29,405,996 (GRCm39)	missense	possibly damaging	0.86
R0357:Catsperg2	UTSW	7	29,414,326 (GRCm39)	missense	possibly damaging	0.93
R0480:Catsperg2	UTSW	7	29,420,723 (GRCm39)	missense	probably damaging	0.98
R0578:Catsperg2	UTSW	7	29,404,116 (GRCm39)	missense	possibly damaging	0.71
R0732:Catsperg2	UTSW	7	29,400,121 (GRCm39)	missense	probably damaging	1.00
R0826:Catsperg2	UTSW	7	29,405,049 (GRCm39)	missense	possibly damaging	0.92
R1535:Catsperg2	UTSW	7	29,397,671 (GRCm39)	missense	possibly damaging	0.85
R1925:Catsperg2	UTSW	7	29,397,189 (GRCm39)	missense	probably benign	0.01
R1990:Catsperg2	UTSW	7	29,420,470 (GRCm39)	nonsense	probably null
R3433:Catsperg2	UTSW	7	29,400,643 (GRCm39)	missense	possibly damaging	0.71
R3721:Catsperg2	UTSW	7	29,404,527 (GRCm39)	missense	probably benign	0.02
R4020:Catsperg2	UTSW	7	29,416,429 (GRCm39)	missense	probably damaging	0.99
R4760:Catsperg2	UTSW	7	29,405,060 (GRCm39)	missense	probably damaging	0.99
R4829:Catsperg2	UTSW	7	29,400,550 (GRCm39)	missense	probably damaging	0.98
R5033:Catsperg2	UTSW	7	29,409,559 (GRCm39)	missense	possibly damaging	0.93
R5093:Catsperg2	UTSW	7	29,416,423 (GRCm39)	missense	probably benign	0.32
R5266:Catsperg2	UTSW	7	29,416,491 (GRCm39)	missense	probably damaging	0.98
R5267:Catsperg2	UTSW	7	29,416,491 (GRCm39)	missense	probably damaging	0.98
R5287:Catsperg2	UTSW	7	29,397,263 (GRCm39)	missense	possibly damaging	0.96
R5427:Catsperg2	UTSW	7	29,414,275 (GRCm39)	missense	possibly damaging	0.71
R5575:Catsperg2	UTSW	7	29,405,015 (GRCm39)	missense	possibly damaging	0.84
R5685:Catsperg2	UTSW	7	29,400,613 (GRCm39)	missense	probably damaging	1.00
R5844:Catsperg2	UTSW	7	29,397,257 (GRCm39)	missense	possibly damaging	0.96
R5982:Catsperg2	UTSW	7	29,412,442 (GRCm39)	missense	possibly damaging	0.51
R6662:Catsperg2	UTSW	7	29,418,938 (GRCm39)	start gained	probably benign
R6744:Catsperg2	UTSW	7	29,409,244 (GRCm39)	missense	probably benign	0.23
R7171:Catsperg2	UTSW	7	29,404,750 (GRCm39)	missense	possibly damaging	0.71
R7239:Catsperg2	UTSW	7	29,409,507 (GRCm39)	missense	probably benign	0.00
R7336:Catsperg2	UTSW	7	29,406,026 (GRCm39)	missense	possibly damaging	0.83
R7498:Catsperg2	UTSW	7	29,416,527 (GRCm39)	missense	possibly damaging	0.71
R7548:Catsperg2	UTSW	7	29,409,251 (GRCm39)	missense	probably benign	0.32
R7562:Catsperg2	UTSW	7	29,397,144 (GRCm39)	missense	probably benign	0.18
R7565:Catsperg2	UTSW	7	29,412,406 (GRCm39)	missense	probably null	0.71
R7600:Catsperg2	UTSW	7	29,404,283 (GRCm39)	missense	probably benign	0.32
R8460:Catsperg2	UTSW	7	29,404,744 (GRCm39)	missense	possibly damaging	0.92
R8461:Catsperg2	UTSW	7	29,404,744 (GRCm39)	missense	possibly damaging	0.92
R8751:Catsperg2	UTSW	7	29,404,744 (GRCm39)	missense	possibly damaging	0.92
R8752:Catsperg2	UTSW	7	29,404,744 (GRCm39)	missense	possibly damaging	0.92
R8829:Catsperg2	UTSW	7	29,397,269 (GRCm39)	missense	probably benign	0.33
R8832:Catsperg2	UTSW	7	29,397,269 (GRCm39)	missense	probably benign	0.33
R9264:Catsperg2	UTSW	7	29,397,613 (GRCm39)	missense	possibly damaging	0.72
R9284:Catsperg2	UTSW	7	29,405,006 (GRCm39)	critical splice donor site	probably null
R9468:Catsperg2	UTSW	7	29,409,432 (GRCm39)	critical splice donor site	probably null
Z1177:Catsperg2	UTSW	7	29,397,207 (GRCm39)	missense	possibly damaging	0.96

Posted On

2016-08-02