Mutagenetix > Incidental Mutation

Incidental Mutation 'R9149:Catsperg1'

694891

Institutional Source

Beutler Lab

Gene Symbol

Catsperg1

Ensembl Gene

ENSMUSG00000049676

Gene Name

cation channel sperm associated auxiliary subunit gamma 1

Synonyms

A230107C01Rik, Catsperg

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R9149 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29181321-29214035 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 29210487 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Arginine at position 72 (P72R)

Ref Sequence

ENSEMBL: ENSMUSP00000067388 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047846] [ENSMUST00000069861] [ENSMUST00000163782] [ENSMUST00000164653] [ENSMUST00000169143]

AlphaFold

E9Q355

Predicted Effect

probably benign
Transcript: ENSMUST00000047846
AA Change: P107R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000045233
Gene: ENSMUSG00000049676
AA Change: P107R

Domain	Start	End	E-Value	Type
Pfam:CATSPERG	1	920	N/A	PFAM
transmembrane domain	1012	1034	N/A	INTRINSIC
low complexity region	1058	1073	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000069861
AA Change: P72R

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000067388
Gene: ENSMUSG00000049676
AA Change: P72R

Domain	Start	End	E-Value	Type
Pfam:CATSPERG	1	57	7.9e-14	PFAM
Pfam:CATSPERG	73	205	7e-65	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000163782
AA Change: P34R

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

SMART Domains

Protein: ENSMUSP00000127409
Gene: ENSMUSG00000049676
AA Change: P34R

Domain	Start	End	E-Value	Type
Pfam:CATSPERG	1	93	1.7e-52	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000164653
AA Change: P107R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131827
Gene: ENSMUSG00000049676
AA Change: P107R

Domain	Start	End	E-Value	Type
Pfam:CATSPERG	1	111	1.4e-44	PFAM
Pfam:CATSPERG	108	334	8.5e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169143
AA Change: P107R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000129837
Gene: ENSMUSG00000049676
AA Change: P107R

Domain	Start	End	E-Value	Type
Pfam:CATSPERG	2	973	N/A	PFAM
transmembrane domain	1065	1087	N/A	INTRINSIC
low complexity region	1111	1126	N/A	INTRINSIC

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (90/90)

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,446,304	S103N	probably benign	Het
Ace	A	G	11: 105,972,473	D358G	possibly damaging	Het
Acvr2b	A	T	9: 119,428,050	H115L	probably damaging	Het
Adam15	G	A	3: 89,347,435	T106I	possibly damaging	Het
Adamts16	A	G	13: 70,735,829	C1076R	probably damaging	Het
Adcy5	A	G	16: 35,272,111	Y614C	probably damaging	Het
Adhfe1	A	T	1: 9,557,051	H225L	probably benign	Het
Aff3	A	G	1: 38,181,316	I1171T	probably damaging	Het
Agps	T	A	2: 75,866,838	M334K	probably damaging	Het
Akr1e1	A	G	13: 4,602,679		probably null	Het
Als2cl	G	A	9: 110,889,123	V311M	probably benign	Het
Amdhd1	A	T	10: 93,539,951	L7H	probably damaging	Het
Apba1	A	T	19: 23,893,418	I205F	probably damaging	Het
Arhgap26	A	T	18: 39,111,864	E187D	possibly damaging	Het
Ash1l	A	T	3: 89,007,223	H1720L	probably benign	Het
Atp9a	T	C	2: 168,734,068		probably benign	Het
Bcl7c	G	A	7: 127,708,523	A2V	probably damaging	Het
Ccdc103	G	A	11: 102,884,096	G174R	probably benign	Het
Ccdc171	A	T	4: 83,694,275	K976M	probably damaging	Het
Ceacam1	T	C	7: 25,473,935	N276S	possibly damaging	Het
Cep152	T	C	2: 125,619,883	N91S	probably damaging	Het
Cep152	T	C	2: 125,621,207	E18G	probably damaging	Het
Cers3	T	C	7: 66,743,694	L17P	probably benign	Het
Cpsf3	A	G	12: 21,306,843	N489S	possibly damaging	Het
Cramp1l	A	G	17: 24,968,946	S1225P	probably damaging	Het
Dck	G	A	5: 88,765,307	G18R	probably benign	Het
Dnah5	A	T	15: 28,387,768	E3124D	probably benign	Het
Eogt	T	G	6: 97,113,878	L433F	probably damaging	Het
Fam135b	A	G	15: 71,462,895	S817P		Het
Fsip2	T	C	2: 82,982,030	Y2898H	possibly damaging	Het
Fzr1	T	C	10: 81,369,415	H249R	probably benign	Het
Gbp10	T	G	5: 105,218,995	Q457P	probably damaging	Het
Gin1	G	C	1: 97,783,094	L167F	probably damaging	Het
Gm14226	A	T	2: 155,024,923	I267F	probably damaging	Het
Gmnc	A	G	16: 26,962,892		probably null	Het
Hectd2	A	T	19: 36,599,002	I311F	probably damaging	Het
Heg1	A	G	16: 33,738,591	K1085E	probably benign	Het
Hmbs	G	A	9: 44,341,686	Q34*	probably null	Het
Hyal6	T	A	6: 24,734,152	M28K	probably benign	Het
Ifi27	T	C	12: 103,439,419	V141A	possibly damaging	Het
Ift122	T	A	6: 115,890,531	I414N	probably damaging	Het
Iglv2	A	T	16: 19,260,684	V23E	probably damaging	Het
Itgax	A	T	7: 128,131,469	I120L	probably benign	Het
Kifc3	A	G	8: 95,126,689	I13T	probably benign	Het
Lmod3	T	C	6: 97,247,664	N399D	probably damaging	Het
Macf1	A	T	4: 123,471,533	I3145K	probably benign	Het
Map2k5	A	C	9: 63,293,724	I209S	probably damaging	Het
Mbd5	A	G	2: 49,251,376	E117G	probably damaging	Het
Milr1	A	G	11: 106,761,279	H172R	probably benign	Het
Myod1	A	C	7: 46,377,169	D166A		Het
Neb	C	T	2: 52,210,866	V4647M	possibly damaging	Het
Nek1	A	T	8: 61,121,021	D1101V	probably damaging	Het
Nlrp2	A	T	7: 5,327,573	V608D	probably benign	Het
Noc3l	G	A	19: 38,812,391	Q216*	probably null	Het
Nos1	G	C	5: 117,879,337	R255P	probably benign	Het
Nup160	T	A	2: 90,722,241		probably benign	Het
Nxt2	C	T	X: 142,237,751	A118V	possibly damaging	Het
Oat	C	T	7: 132,564,277	S193N	probably benign	Het
Olfr1	T	A	11: 73,396,027		probably benign	Het
Olfr1148	G	T	2: 87,833,179	G47*	probably null	Het
Olfr344	T	G	2: 36,568,976	F126C	probably benign	Het
Olfr776	A	G	10: 129,261,315	Y118C	probably damaging	Het
Olfr812	A	G	10: 129,842,613	V143A	probably damaging	Het
Oma1	A	G	4: 103,325,017		probably null	Het
Os9	A	G	10: 127,098,049	S500P	possibly damaging	Het
Osbpl11	A	T	16: 33,227,290	N541I		Het
Pcnx4	A	G	12: 72,566,897	I539V	probably benign	Het
Ppfia3	T	A	7: 45,350,293		probably null	Het
Ppp1r3a	T	C	6: 14,722,099	K275E	probably benign	Het
Pten	A	G	19: 32,792,572	N63S	probably benign	Het
Rptor	A	G	11: 119,887,070	N1020S	probably benign	Het
Sall2	C	A	14: 52,313,216	D841Y	possibly damaging	Het
Sbno1	T	A	5: 124,381,699	H1172L	probably benign	Het
Scaf4	A	T	16: 90,230,166	L921Q	probably damaging	Het
Sec22c	C	A	9: 121,695,684	R11L	probably damaging	Het
Skint6	T	A	4: 113,176,976	D318V	probably damaging	Het
Slc22a28	T	C	19: 8,071,840	N348S	probably benign	Het
Slc44a2	G	T	9: 21,342,009	K77N	possibly damaging	Het
Smc1b	C	T	15: 85,066,230	V1198I	probably benign	Het
Spef2	A	T	15: 9,717,482	M316K	probably damaging	Het
Stra8	T	C	6: 34,934,081	Y215H	probably damaging	Het
Sv2a	G	T	3: 96,189,694	R445L	probably benign	Het
Sycp1	A	C	3: 102,851,628	L771R	probably damaging	Het
Tchp	A	T	5: 114,721,123	R493*	probably null	Het
Ttc13	G	A	8: 124,683,300	A391V	probably benign	Het
Unc13b	C	T	4: 43,176,186	T2338I	unknown	Het
Wac	A	G	18: 7,921,592	D576G	probably damaging	Het
Wdr34	T	A	2: 30,033,941	T191S	probably benign	Het
Xdh	T	C	17: 73,915,693	N559S	probably benign	Het
Zscan20	A	T	4: 128,588,121	S583T	probably benign	Het

Other mutations in Catsperg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00808:Catsperg1	APN	7	29198146	missense	probably damaging	1.00
IGL01693:Catsperg1	APN	7	29185098	unclassified	probably benign
IGL01935:Catsperg1	APN	7	29195871	splice site	probably null
IGL02484:Catsperg1	APN	7	29210920	start gained	probably benign
IGL02584:Catsperg1	APN	7	29184721	missense	probably damaging	1.00
IGL02880:Catsperg1	APN	7	29195485	missense	possibly damaging	0.75
IGL03268:Catsperg1	APN	7	29200243	missense	probably damaging	1.00
IGL03285:Catsperg1	APN	7	29198172	missense	possibly damaging	0.89
solid	UTSW	7	29190298	nonsense	probably null
K7894:Catsperg1	UTSW	7	29197154	intron	probably benign
R0180:Catsperg1	UTSW	7	29190431	splice site	probably null
R0344:Catsperg1	UTSW	7	29195540	missense	probably damaging	1.00
R0523:Catsperg1	UTSW	7	29185190	unclassified	probably benign
R0561:Catsperg1	UTSW	7	29182312	missense	probably damaging	1.00
R0610:Catsperg1	UTSW	7	29190619	missense	probably damaging	1.00
R0762:Catsperg1	UTSW	7	29189952	missense	probably benign	0.03
R1074:Catsperg1	UTSW	7	29206849	missense	probably damaging	1.00
R1201:Catsperg1	UTSW	7	29191670	missense	possibly damaging	0.77
R1346:Catsperg1	UTSW	7	29182334	splice site	probably null
R1387:Catsperg1	UTSW	7	29206864	missense	probably damaging	1.00
R1467:Catsperg1	UTSW	7	29185008	missense	probably damaging	1.00
R1467:Catsperg1	UTSW	7	29185008	missense	probably damaging	1.00
R1486:Catsperg1	UTSW	7	29185495	missense	probably damaging	1.00
R1883:Catsperg1	UTSW	7	29182236	critical splice donor site	probably null
R1932:Catsperg1	UTSW	7	29198143	missense	probably damaging	1.00
R1942:Catsperg1	UTSW	7	29206807	missense	possibly damaging	0.89
R2127:Catsperg1	UTSW	7	29185040	missense	probably damaging	1.00
R2205:Catsperg1	UTSW	7	29185246	nonsense	probably null
R4214:Catsperg1	UTSW	7	29195932	missense	possibly damaging	0.80
R4678:Catsperg1	UTSW	7	29190296	missense	probably benign	0.13
R5008:Catsperg1	UTSW	7	29195434	nonsense	probably null
R5217:Catsperg1	UTSW	7	29190298	nonsense	probably null
R5268:Catsperg1	UTSW	7	29195247	missense	probably benign	0.41
R5372:Catsperg1	UTSW	7	29210712	missense	probably benign	0.08
R5393:Catsperg1	UTSW	7	29185499	missense	probably damaging	1.00
R5406:Catsperg1	UTSW	7	29185523	missense	probably damaging	1.00
R5557:Catsperg1	UTSW	7	29195871	missense	possibly damaging	0.89
R5921:Catsperg1	UTSW	7	29190523	missense	possibly damaging	0.78
R5928:Catsperg1	UTSW	7	29206615	missense	probably damaging	0.99
R5960:Catsperg1	UTSW	7	29184783	unclassified	probably benign
R6053:Catsperg1	UTSW	7	29210814	nonsense	probably null
R6144:Catsperg1	UTSW	7	29210695	missense	probably damaging	0.99
R6215:Catsperg1	UTSW	7	29200239	missense	probably damaging	1.00
R6334:Catsperg1	UTSW	7	29206357	missense	probably benign	0.01
R6446:Catsperg1	UTSW	7	29206567	missense	probably benign	0.00
R6854:Catsperg1	UTSW	7	29181702	missense	possibly damaging	0.72
R7171:Catsperg1	UTSW	7	29185212	missense	probably damaging	1.00
R7326:Catsperg1	UTSW	7	29210759	missense	possibly damaging	0.82
R7382:Catsperg1	UTSW	7	29204844	missense	probably benign	0.02
R7473:Catsperg1	UTSW	7	29195478	missense	probably damaging	1.00
R7555:Catsperg1	UTSW	7	29189814	missense	probably damaging	0.97
R7714:Catsperg1	UTSW	7	29185482	missense	probably null	1.00
R7914:Catsperg1	UTSW	7	29195426	missense	probably benign
R7935:Catsperg1	UTSW	7	29195919	missense	possibly damaging	0.94
R8684:Catsperg1	UTSW	7	29198400	missense	probably damaging	1.00
R8733:Catsperg1	UTSW	7	29191686	missense	possibly damaging	0.95
R8821:Catsperg1	UTSW	7	29204936	splice site	probably benign
R9014:Catsperg1	UTSW	7	29206641	missense	probably damaging	1.00
R9016:Catsperg1	UTSW	7	29191737	missense	probably benign
R9093:Catsperg1	UTSW	7	29184727	missense	probably damaging	1.00
R9094:Catsperg1	UTSW	7	29184727	missense	probably damaging	1.00
R9096:Catsperg1	UTSW	7	29184727	missense	probably damaging	1.00
R9146:Catsperg1	UTSW	7	29210487	missense	probably benign	0.07
R9297:Catsperg1	UTSW	7	29191660	missense	probably benign	0.23
R9339:Catsperg1	UTSW	7	29195460	missense	probably benign	0.44
R9435:Catsperg1	UTSW	7	29190326	missense	probably benign	0.02
R9451:Catsperg1	UTSW	7	29198347	critical splice donor site	probably null
R9478:Catsperg1	UTSW	7	29198352	missense	possibly damaging	0.55
R9557:Catsperg1	UTSW	7	29204798	missense	probably damaging	1.00
Z1186:Catsperg1	UTSW	7	29181861	missense	possibly damaging	0.85
Z1186:Catsperg1	UTSW	7	29181862	missense	possibly damaging	0.85
Z1186:Catsperg1	UTSW	7	29181872	missense	probably benign	0.00
Z1186:Catsperg1	UTSW	7	29182052	missense	probably damaging	1.00
Z1186:Catsperg1	UTSW	7	29182122	missense	probably benign	0.00
Z1186:Catsperg1	UTSW	7	29190250	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTTAAAATGGGGCCCCGTG -3'
(R):5'- TCCAAAAGTTGACAGACTCGC -3'

Sequencing Primer
(F):5'- GGGAGTGCTGTGCTCAC -3'
(R):5'- GTTGACAGACTCGCCAATCG -3'

Posted On

2022-01-20