Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03242:Catsperg2'

414908

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: 0.091) question?

Stock #

IGL03242

Quality Score

Status

Chromosome

Chromosomal Location

29697219-29727032 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 29725479 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000052285
Gene: ENSMUSG00000049123

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: ENSMUST00000207130

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 benign
Transcript: ENSMUST00000208607

Predicted Effect

probably benign
Transcript: ENSMUST00000209126

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	T	C	6: 48,932,545	F575L	possibly damaging	Het
4930562C15Rik	T	C	16: 4,849,325	W221R	unknown	Het
Ank2	A	G	3: 126,928,805	F1000L	possibly damaging	Het
Bahcc1	T	C	11: 120,268,300		probably benign	Het
BC024139	T	C	15: 76,120,320	M679V	probably benign	Het
BC027072	A	G	17: 71,750,271	S804P	probably benign	Het
Carmil2	A	G	8: 105,691,320		probably benign	Het
Chrnb4	A	T	9: 55,035,528	I154K	probably damaging	Het
Clec2e	A	C	6: 129,095,026	L130W	probably damaging	Het
Coro2b	G	T	9: 62,428,961	Y281*	probably null	Het
Dlk2	A	G	17: 46,302,977	Y386C	probably benign	Het
Dnah7a	A	T	1: 53,620,723	F709I	probably benign	Het
Exoc1	T	C	5: 76,559,007	L467P	probably damaging	Het
Fkbp2	A	G	19: 6,978,612	V75A	probably benign	Het
Glud1	T	C	14: 34,334,280	F304L	probably benign	Het
Gm11639	A	C	11: 105,106,404	E140A	probably damaging	Het
Gsr	T	A	8: 33,685,599	V291E	probably benign	Het
Kap	A	G	6: 133,851,800		probably benign	Het
Kmt2a	G	T	9: 44,848,392	T720N	probably damaging	Het
Lrrtm4	T	C	6: 80,022,088	I161T	probably benign	Het
Lyst	T	A	13: 13,656,881	L1630*	probably null	Het
Med13l	A	G	5: 118,747,445	S1488G	probably benign	Het
Mlxip	A	G	5: 123,440,061	K147E	probably damaging	Het
Nalcn	T	C	14: 123,321,487	E810G	possibly damaging	Het
Olfr474	T	C	7: 107,955,481	V280A	possibly damaging	Het
Olfr683	G	A	7: 105,144,266	S15F	probably benign	Het
Olfr710	A	G	7: 106,944,918	F28L	possibly damaging	Het
Piezo2	T	C	18: 63,011,538		probably benign	Het
Scgb2b7	A	T	7: 31,705,081	C65S	probably damaging	Het
Serpina3j	G	A	12: 104,319,701	A372T	possibly damaging	Het
Slc28a3	G	A	13: 58,574,249	Q274*	probably null	Het
Ssfa2	C	T	2: 79,643,471	R189*	probably null	Het
Stk36	T	C	1: 74,623,352	F543S	possibly damaging	Het
Tfrc	T	C	16: 32,630,112	S690P	probably damaging	Het
Tg	C	A	15: 66,683,798	Q780K	probably damaging	Het
Top1	T	A	2: 160,715,733	H578Q	probably damaging	Het
Treh	A	G	9: 44,685,337	T463A	possibly damaging	Het
Treml1	G	A	17: 48,365,988		probably benign	Het
Trpm2	A	G	10: 77,917,734	V1312A	probably benign	Het
Ttc41	T	A	10: 86,776,819	*1319K	probably null	Het
Tulp2	A	G	7: 45,521,858	I354M	probably damaging	Het
Ugt2b35	T	C	5: 87,007,395	L363P	probably damaging	Het
Usp13	A	T	3: 32,902,069	M496L	probably benign	Het
Virma	T	C	4: 11,527,669	S1187P	possibly damaging	Het
Wdr76	T	A	2: 121,542,470	C593S	probably damaging	Het
Zfp446	G	A	7: 12,979,325	A97T	probably 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
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
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
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