Mutagenetix > Incidental Mutations

Incidental Mutation 'R4020:Catsperg2'

312731

Institutional Source

Beutler Lab

Gene Symbol

Catsperg2

Ensembl Gene

ENSMUSG00000049123

Gene Name

cation channel sperm associated auxiliary subunit gamma 2

Synonyms

1700067C01Rik, CATSPERG

MMRRC Submission

040954-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R4020 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29697219-29727032 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 29717004 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 328 (D328Y)

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: D328Y

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000052285
Gene: ENSMUSG00000049123
AA Change: D328Y

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 damaging
Transcript: ENSMUST00000207115
AA Change: D208Y

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

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: D328Y

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209126
AA Change: D328Y

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 37,012,575		probably benign	Het
Adcy7	G	C	8: 88,308,734	V89L	probably benign	Het
Aebp2	T	A	6: 140,642,295	S364T	probably damaging	Het
Akr1b10	C	T	6: 34,392,453	T206I	probably benign	Het
Ap4e1	C	T	2: 127,061,926	S916F	probably benign	Het
Apob	C	T	12: 7,994,914	Q845*	probably null	Het
Asb4	A	G	6: 5,390,803		probably benign	Het
C1ra	A	T	6: 124,519,777	T391S	probably benign	Het
Ciapin1	G	T	8: 94,829,186	L119M	probably damaging	Het
Crhr2	A	G	6: 55,100,780		probably benign	Het
Cyp2j6	A	G	4: 96,518,170	S455P	probably benign	Het
Dctn4	G	A	18: 60,538,257		probably benign	Het
Defa25	C	T	8: 21,085,229	R75C	probably benign	Het
Dnajc10	T	C	2: 80,344,952	L561P	probably damaging	Het
Dnajc7	A	T	11: 100,591,466	F185L	probably damaging	Het
Dock9	T	C	14: 121,606,855	I1175V	probably benign	Het
Drosha	T	G	15: 12,837,336	L302R	possibly damaging	Het
Efcab5	C	T	11: 77,104,104	V1214I	probably benign	Het
Erich3	G	A	3: 154,714,049	R260H	probably damaging	Het
Fam168b	T	C	1: 34,828,779	T47A	possibly damaging	Het
Gm884	A	G	11: 103,615,293	S1950P	probably benign	Het
Gm9573	T	C	17: 35,620,061		probably benign	Het
Gorasp1	G	A	9: 119,928,870	R290C	probably benign	Het
Gtf2a1	A	G	12: 91,572,577	S94P	possibly damaging	Het
Ighv1-53	C	T	12: 115,158,822	C5Y	probably benign	Het
Impdh1	T	C	6: 29,202,694	I446V	probably benign	Het
Krtap5-1	T	C	7: 142,296,357		probably null	Het
Lipo1	T	A	19: 33,787,404	I17L	probably benign	Het
Lss	T	C	10: 76,547,444	M526T	probably damaging	Het
Med12l	A	C	3: 59,247,942	Q1181P	probably damaging	Het
Mtrf1l	T	C	10: 5,817,454	T221A	probably benign	Het
Mxi1	C	A	19: 53,371,729	A294E	probably benign	Het
Naip5	T	C	13: 100,223,375	E451G	probably benign	Het
Naip5	T	C	13: 100,223,394	I445V	probably benign	Het
Nfrkb	T	A	9: 31,414,111	L950Q	possibly damaging	Het
Olfr1458	T	G	19: 13,102,426	K287Q	probably damaging	Het
Oplah	A	G	15: 76,297,276	Y1155H	probably damaging	Het
Pcnx	C	T	12: 81,918,244	T395I	probably damaging	Het
Pdzd3	A	T	9: 44,250,820		probably null	Het
Pitrm1	A	G	13: 6,556,687	H259R	probably damaging	Het
Pllp	C	A	8: 94,679,444	M70I	possibly damaging	Het
Pop1	A	G	15: 34,508,780	T334A	probably benign	Het
Prep	T	C	10: 45,092,798		probably benign	Het
Ptprz1	C	A	6: 22,959,624		probably benign	Het
Sbsn	A	G	7: 30,755,965	S170G	probably damaging	Het
Sco1	T	G	11: 67,064,020	S284A	probably benign	Het
Slc25a10	T	A	11: 120,497,439	M227K	probably damaging	Het
Trav7-6	A	G	14: 53,717,181	K56R	probably benign	Het
Ubr4	T	G	4: 139,451,805	C3322G	probably damaging	Het
Unc5a	T	C	13: 55,003,369	Y608H	probably damaging	Het
Zfand1	A	C	3: 10,340,756	N262K	probably benign	Het
Zfp335	C	T	2: 164,901,460	R536H	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
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
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
Z1177:Catsperg2	UTSW	7	29697782	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AACGTCCCTACCCATGTGTG -3'
(R):5'- AGGTCTCACACTGTCTCACAC -3'

Sequencing Primer
(F):5'- AGAGTCTCATGTAGCCCAGATTC -3'
(R):5'- ACACTGTCTCACACATTATTCTCTG -3'

Posted On

2015-04-30