Mutagenetix > Incidental Mutations

Incidental Mutation 'R5427:Catsperg2'

426951

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

042993-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R5427 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29697219-29727032 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29714850 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 377 (T377A)

Ref Sequence

ENSEMBL: ENSMUSP00000147099 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061193
AA Change: T377A

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

SMART Domains

Protein: ENSMUSP00000052285
Gene: ENSMUSG00000049123
AA Change: T377A

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: T257A

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: T377A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209126
AA Change: T377A

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

Meta Mutation Damage Score

0.0723

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700057G04Rik	G	A	9: 92,352,596	C128Y	probably benign	Het
Aaas	A	G	15: 102,339,950	V277A	possibly damaging	Het
Adcy7	G	A	8: 88,326,201		probably null	Het
Adgrg5	A	T	8: 94,935,102	D157V	probably benign	Het
Akap13	A	G	7: 75,728,869	N2090S	possibly damaging	Het
Alpi	T	C	1: 87,101,354	N33D	probably benign	Het
Anapc15	C	T	7: 101,898,603	P68L	probably damaging	Het
Ankrd34a	G	A	3: 96,597,521	G14R	probably damaging	Het
Anp32a	A	G	9: 62,377,316		probably benign	Het
Atg4b	G	C	1: 93,775,206	K86N	probably damaging	Het
Bbx	T	C	16: 50,280,497	T12A	probably benign	Het
Ccdc158	T	C	5: 92,648,962	Q505R	probably damaging	Het
Cep135	T	A	5: 76,638,202	S1051T	probably benign	Het
Cryab	A	G	9: 50,756,293	D109G	probably damaging	Het
Crym	A	C	7: 120,199,222		probably benign	Het
Csf2rb2	T	A	15: 78,288,911	S250C	probably damaging	Het
Diaph1	A	T	18: 37,890,595	V730E	unknown	Het
Eci3	G	T	13: 34,959,948	L65M	possibly damaging	Het
Erg28	T	C	12: 85,819,567	N46D	probably damaging	Het
Fam89b	A	G	19: 5,728,791	S127P	probably benign	Het
Fign	A	G	2: 63,978,998	Y643H	probably damaging	Het
Galk2	T	C	2: 125,946,821	V265A	probably benign	Het
Gclm	T	C	3: 122,266,327	V252A	probably damaging	Het
Git2	A	G	5: 114,730,328	S584P	possibly damaging	Het
Gm38394	A	G	1: 133,657,595	V668A	possibly damaging	Het
Iqcf3	T	C	9: 106,543,860		probably null	Het
Kcnk3	A	G	5: 30,622,295	T230A	possibly damaging	Het
Myh10	T	C	11: 68,802,931	L1486P	probably damaging	Het
Myom2	C	A	8: 15,113,764	A1006E	probably benign	Het
Myt1l	G	A	12: 29,832,332	G509R	unknown	Het
Nampt	A	T	12: 32,834,915	H111L	probably benign	Het
Nid1	A	G	13: 13,483,683	Y671C	probably damaging	Het
Npy5r	G	A	8: 66,681,020	R374C	probably damaging	Het
Olfr1116	A	T	2: 87,269,514	K244N	probably benign	Het
Olfr1487	A	T	19: 13,619,350	S20C	probably benign	Het
Palld	C	T	8: 61,550,072	C720Y	probably benign	Het
Pcsk6	C	T	7: 66,033,899	T606M	probably benign	Het
Pfas	T	C	11: 69,001,153	I176M	possibly damaging	Het
Pi4kb	A	G	3: 94,994,207	D395G	probably benign	Het
Plod3	A	T	5: 136,991,788	Y547F	probably damaging	Het
Pnpo	T	C	11: 96,943,807	Y21C	probably benign	Het
Rgs1	A	T	1: 144,246,280	C118*	probably null	Het
Rrnad1	T	C	3: 87,924,332		probably benign	Het
Slc22a27	A	G	19: 7,879,388		probably null	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Sppl2c	G	A	11: 104,187,867	V498I	probably benign	Het
Stim2	A	T	5: 54,110,939	I448F	possibly damaging	Het
Sulf1	A	T	1: 12,796,912	T107S	possibly damaging	Het
Tenm3	A	G	8: 48,236,564	V1996A	probably damaging	Het
Timm23	G	A	14: 32,189,146	T171I	possibly damaging	Het
Tssk2	A	G	16: 17,898,865	D44G	probably damaging	Het
Vmn2r28	A	T	7: 5,486,377	Y488N	probably damaging	Het
Zbtb48	A	G	4: 152,020,651	F518S	probably damaging	Het
Zfp709	A	G	8: 71,889,132	E135G	probably benign	Het
Zfp788	G	A	7: 41,649,652	V571I	possibly damaging	Het
Zfp963	A	G	8: 69,743,456	S116P	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
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
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
Z1177:Catsperg2	UTSW	7	29697782	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CACAAATAGCATTGTTATGATCCCC -3'
(R):5'- TCAGGCCCCATTTTGACCAAC -3'

Sequencing Primer
(F):5'- TCCCCTGGAATGTGATTAGGAAC -3'
(R):5'- AACCTGGTTTTGAGTCCCCATG -3'

Posted On

2016-09-01