Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03001:Catsperg2'

407308

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

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

IGL03001

Quality Score

Status

Chromosome

Chromosomal Location

29697219-29727032 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29725079 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 95 (S95G)

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: S95G

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000052285
Gene: ENSMUSG00000049123
AA Change: S95G

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
AA Change: S95G

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000209126
AA Change: S95G

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830010M20Rik	T	C	5: 107,497,842	I9T	probably damaging	Het
Acan	A	C	7: 79,111,294	D1918A	probably damaging	Het
Ahcy	C	A	2: 155,064,828	D182Y	probably damaging	Het
Aldob	T	G	4: 49,542,844	D110A	probably damaging	Het
Alkbh8	A	T	9: 3,344,602	M53L	probably benign	Het
Aqr	T	C	2: 114,146,919	D363G	probably benign	Het
Asxl3	A	G	18: 22,517,398	R815G	probably damaging	Het
Atf4	T	A	15: 80,256,657	W83R	probably damaging	Het
Baz1a	A	T	12: 54,923,111	M587K	possibly damaging	Het
Cactin	T	A	10: 81,325,734	I700N	probably damaging	Het
Cbwd1	T	C	19: 24,922,638	K301E	probably benign	Het
Cd1d1	C	T	3: 86,998,161	S175N	probably benign	Het
Chd4	C	A	6: 125,101,566	A217E	possibly damaging	Het
Cnbd2	T	C	2: 156,333,634		probably null	Het
Cntnap5c	G	A	17: 58,055,639	C329Y	probably damaging	Het
Col12a1	C	T	9: 79,633,673	G2391R	probably damaging	Het
Col5a3	T	A	9: 20,807,744	D238V	unknown	Het
Cuedc1	T	C	11: 88,182,489	V160A	probably benign	Het
Depdc5	T	C	5: 32,945,090	V342A	possibly damaging	Het
Dnah6	T	C	6: 73,149,140	D1338G	probably benign	Het
Dpyd	T	C	3: 118,917,242	V433A	probably benign	Het
Epb41l5	T	C	1: 119,617,644	H179R	probably damaging	Het
Fbf1	T	C	11: 116,165,886		probably benign	Het
Flnb	T	C	14: 7,934,680	S2251P	probably damaging	Het
Fsip2	A	T	2: 82,990,624		probably benign	Het
Grin2b	C	T	6: 135,739,115	V735M	probably damaging	Het
Itpr3	T	G	17: 27,089,612		probably benign	Het
Lingo4	C	T	3: 94,402,396	R214C	probably damaging	Het
Lrp1b	C	T	2: 40,927,889	R2329H	probably damaging	Het
Lrrc47	T	C	4: 154,015,993	L342P	probably damaging	Het
Mmp15	T	C	8: 95,368,217	S240P	probably damaging	Het
Ndufaf4	T	A	4: 24,901,747	N95K	probably benign	Het
Nms	C	T	1: 38,941,912	P60S	probably benign	Het
Npas3	A	T	12: 53,501,192	Y77F	probably damaging	Het
Olfr1158	T	A	2: 87,990,149	Y13N	probably benign	Het
Olfr1173	T	A	2: 88,274,845	D68V	probably damaging	Het
Olfr1412	T	A	1: 92,588,551	S74T	probably damaging	Het
Olfr320	T	G	11: 58,683,876	M1R	probably null	Het
Olfr561	G	T	7: 102,775,253	C243F	probably damaging	Het
Olfr926	A	G	9: 38,878,078	M301V	probably benign	Het
Picalm	T	C	7: 90,182,246	V429A	probably benign	Het
Pkhd1l1	T	A	15: 44,558,004	I3056N	probably damaging	Het
Pomt1	G	T	2: 32,244,326	M286I	probably benign	Het
Popdc2	A	T	16: 38,369,519	Y176F	probably benign	Het
Psg21	A	T	7: 18,652,485	M192K	probably benign	Het
Psma1	C	A	7: 114,266,439	A219S	probably benign	Het
Rad21l	T	G	2: 151,668,469	H22P	probably damaging	Het
Rnf213	A	G	11: 119,479,941	T4791A	probably damaging	Het
Sdk2	A	G	11: 113,821,626	V1609A	probably benign	Het
Sema3e	T	A	5: 14,241,043	S606T	probably benign	Het
Slc16a4	A	T	3: 107,311,542	R486S	possibly damaging	Het
Slc17a3	T	C	13: 23,856,784	L331P	probably damaging	Het
Slc38a11	A	T	2: 65,353,815	V164D	probably damaging	Het
Slc38a6	A	G	12: 73,337,053	I173V	probably benign	Het
Synpo2	T	C	3: 123,079,955	T1121A	probably benign	Het
Tfcp2	T	C	15: 100,528,421	D83G	possibly damaging	Het
Thnsl1	A	G	2: 21,211,644	T70A	probably damaging	Het
Tnfrsf21	A	G	17: 43,087,895	I631V	probably damaging	Het
Tor2a	C	A	2: 32,757,317	H6Q	possibly damaging	Het
Ttn	T	C	2: 76,734,923	N19993S	probably benign	Het
Vps53	T	C	11: 76,138,324	E119G	probably damaging	Het
Zkscan6	T	C	11: 65,814,669	W69R	probably damaging	Het
Zswim8	T	C	14: 20,714,391	S610P	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
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
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