Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03247:Catsperg2'

414449

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: 0.095) question?

Stock #

IGL03247

Quality Score

Status

Chromosome

Chromosomal Location

29697219-29727032 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29717048 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 313 (N313S)

Ref Sequence

ENSEMBL: ENSMUSP00000147099 (fasta)

Gene Model

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

AlphaFold

C6KI89

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061193
AA Change: N313S

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000052285
Gene: ENSMUSG00000049123
AA Change: N313S

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

possibly damaging
Transcript: ENSMUST00000207115
AA Change: N193S

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

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

possibly damaging
Transcript: ENSMUST00000208607
AA Change: N313S

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209126
AA Change: N313S

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	T	A	14: 55,770,096	I926F	probably damaging	Het
Agap3	A	G	5: 24,487,822	N418D	probably damaging	Het
Alms1	T	C	6: 85,678,597	V3375A	possibly damaging	Het
Ankrd6	T	A	4: 32,860,441	M1L	possibly damaging	Het
Aox4	A	G	1: 58,264,367	D1188G	probably damaging	Het
Car2	T	A	3: 14,887,939	L47Q	probably damaging	Het
Catsper2	A	G	2: 121,410,200	V107A	probably benign	Het
Dolk	T	C	2: 30,285,511	Y174C	probably damaging	Het
Erfe	A	G	1: 91,370,425	E219G	probably benign	Het
Ern2	T	C	7: 122,171,671	E733G	probably benign	Het
Fam159a	A	T	4: 108,367,901	C155S	probably benign	Het
Fam228a	A	G	12: 4,737,734	F13S	probably damaging	Het
Fancd2	T	C	6: 113,568,208	V829A	probably benign	Het
Gid4	C	A	11: 60,432,343	T87N	probably benign	Het
H2-Ob	A	G	17: 34,243,492	K152R	probably benign	Het
Ifna2	T	A	4: 88,683,377	T135S	probably benign	Het
Il1rapl2	G	A	X: 138,789,680	G298D	probably damaging	Het
Mbd1	T	A	18: 74,274,754	L174*	probably null	Het
Mga	T	A	2: 119,935,513	D1341E	possibly damaging	Het
Mmp12	T	A	9: 7,348,631	M54K	probably benign	Het
Mphosph8	T	A	14: 56,678,820		probably null	Het
Mrps23	A	G	11: 88,210,096		probably benign	Het
Necab1	C	T	4: 14,960,046	M300I	probably benign	Het
Nid2	G	A	14: 19,779,620	D660N	probably damaging	Het
Olfr693	T	A	7: 106,677,547	H313L	probably benign	Het
Olfr824	T	A	10: 130,126,715	E114V	probably damaging	Het
P2ry13	A	T	3: 59,209,592	V255D	possibly damaging	Het
Peak1	C	T	9: 56,257,930	E905K	probably damaging	Het
Picalm	C	A	7: 90,194,291	Q550K	probably benign	Het
Rnf103	T	A	6: 71,510,305	V640E	possibly damaging	Het
Sec31b	T	G	19: 44,518,940	K817N	possibly damaging	Het
Skint2	C	A	4: 112,626,026	H209Q	probably benign	Het
Skint5	T	C	4: 113,940,808	S193G	probably damaging	Het
Tacr3	A	G	3: 134,930,091		probably benign	Het
Tek	A	G	4: 94,865,443	M1041V	possibly damaging	Het
Tm4sf1	A	G	3: 57,293,015	S89P	possibly damaging	Het
Tusc3	T	A	8: 39,130,777	N299K	possibly damaging	Het
Washc4	T	C	10: 83,564,463	S418P	probably benign	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
IGL01667:Catsperg2	APN	7	29710133	missense	probably damaging	0.98
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
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
R8751:Catsperg2	UTSW	7	29705319	missense	possibly damaging	0.92
R8752:Catsperg2	UTSW	7	29705319	missense	possibly damaging	0.92
R8829:Catsperg2	UTSW	7	29697844	missense	probably benign	0.33
R8832:Catsperg2	UTSW	7	29697844	missense	probably benign	0.33
R9264:Catsperg2	UTSW	7	29698188	missense	possibly damaging	0.72
R9284:Catsperg2	UTSW	7	29705581	critical splice donor site	probably null
R9468:Catsperg2	UTSW	7	29710007	critical splice donor site	probably null
Z1177:Catsperg2	UTSW	7	29697782	missense	possibly damaging	0.96

Posted On

2016-08-02