Mutagenetix > Incidental Mutation

Incidental Mutation 'R7326:Catsperg1'

568903

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

045378-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R7326 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28880746-28913460 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 28910184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 52 (N52K)

Ref Sequence

ENSEMBL: ENSMUSP00000067388 (fasta)

Gene Model

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

AlphaFold

E9Q355

Predicted Effect

probably damaging
Transcript: ENSMUST00000047846
AA Change: N52K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045233
Gene: ENSMUSG00000049676
AA Change: N52K

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

possibly damaging
Transcript: ENSMUST00000069861
AA Change: N52K

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000067388
Gene: ENSMUSG00000049676
AA Change: N52K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000163782

SMART Domains

Protein: ENSMUSP00000127409
Gene: ENSMUSG00000049676

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000164653
AA Change: N52K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131827
Gene: ENSMUSG00000049676
AA Change: N52K

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 damaging
Transcript: ENSMUST00000169143
AA Change: N52K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129837
Gene: ENSMUSG00000049676
AA Change: N52K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,984,226 (GRCm39)	V652A	probably benign	Het
Acvrl1	G	T	15: 101,038,953 (GRCm39)	V417L	probably damaging	Het
Add1	A	G	5: 34,776,715 (GRCm39)	R479G	probably benign	Het
Adgb	A	T	10: 10,276,318 (GRCm39)	L350Q	possibly damaging	Het
Adgrl2	A	T	3: 148,552,506 (GRCm39)	S666T	probably benign	Het
Akap9	T	A	5: 4,095,930 (GRCm39)	D2268E	possibly damaging	Het
Amigo3	C	A	9: 107,931,265 (GRCm39)	H229Q	probably benign	Het
Ano6	G	C	15: 95,762,125 (GRCm39)	Q31H	possibly damaging	Het
Ap4m1	G	A	5: 138,173,281 (GRCm39)	D180N	probably damaging	Het
Apc2	A	T	10: 80,147,574 (GRCm39)	D876V	probably damaging	Het
Apcdd1	T	A	18: 63,085,259 (GRCm39)	Y485*	probably null	Het
Aqp1	G	T	6: 55,313,836 (GRCm39)	D121Y	probably benign	Het
Bicd2	C	A	13: 49,523,085 (GRCm39)	R141S	probably benign	Het
Brpf3	C	A	17: 29,025,267 (GRCm39)	H113Q	probably benign	Het
Cacng2	A	T	15: 77,897,520 (GRCm39)	Y96*	probably null	Het
Celsr2	A	C	3: 108,302,311 (GRCm39)	F2606V	possibly damaging	Het
Cerkl	A	T	2: 79,162,949 (GRCm39)	N516K	probably benign	Het
Ciita	G	A	16: 10,330,152 (GRCm39)	R812H	probably damaging	Het
Cldn3	T	A	5: 135,015,837 (GRCm39)	L180Q	probably damaging	Het
Cnot6l	T	C	5: 96,225,158 (GRCm39)	I512V	probably benign	Het
Col5a2	A	T	1: 45,482,027 (GRCm39)	D32E	unknown	Het
Coro7	A	G	16: 4,449,912 (GRCm39)	V616A	probably damaging	Het
Cyp4f18	T	C	8: 72,742,498 (GRCm39)	D494G	probably benign	Het
Ddx39a	T	A	8: 84,449,100 (GRCm39)	V296E	probably benign	Het
Dgkg	A	T	16: 22,367,440 (GRCm39)	H593Q	probably damaging	Het
Dhx16	T	C	17: 36,197,052 (GRCm39)	L645P	probably damaging	Het
Dnah14	A	G	1: 181,425,968 (GRCm39)	M171V	probably benign	Het
Dnhd1	G	A	7: 105,370,137 (GRCm39)	V4521I	probably damaging	Het
Dok7	A	T	5: 35,221,866 (GRCm39)	M60L	probably benign	Het
Donson	A	T	16: 91,485,599 (GRCm39)	M1K	probably null	Het
Dsp	C	T	13: 38,376,859 (GRCm39)	T1548M	probably benign	Het
Dyrk1a	A	G	16: 94,492,902 (GRCm39)	T712A	probably damaging	Het
Eef2	A	G	10: 81,017,116 (GRCm39)	T708A	probably benign	Het
Epn3	G	A	11: 94,384,606 (GRCm39)	T289I	probably benign	Het
Fam171a1	C	T	2: 3,227,509 (GRCm39)	R881*	probably null	Het
Fat2	T	A	11: 55,173,130 (GRCm39)	R2528W	probably damaging	Het
Fbxl9	T	C	8: 106,039,530 (GRCm39)	D127G	probably damaging	Het
Fgfr1	T	G	8: 26,063,855 (GRCm39)	F707C	probably damaging	Het
Frem2	G	C	3: 53,562,174 (GRCm39)	P778A	probably damaging	Het
Ganc	A	G	2: 120,261,080 (GRCm39)	Y255C	probably damaging	Het
Garin4	G	A	1: 190,896,550 (GRCm39)	T31M	probably benign	Het
Ginm1	A	T	10: 7,653,614 (GRCm39)	Y65*	probably null	Het
Gm11559	T	A	11: 99,755,707 (GRCm39)	C119S	unknown	Het
Gnai1	T	A	5: 18,494,549 (GRCm39)	H188L		Het
H2bc6	T	C	13: 23,769,906 (GRCm39)	K12E	probably benign	Het
H6pd	C	T	4: 150,080,807 (GRCm39)	A13T	probably benign	Het
Hoxd12	A	T	2: 74,505,590 (GRCm39)	T54S	possibly damaging	Het
Hs3st5	T	A	10: 36,709,190 (GRCm39)	L242M	probably damaging	Het
Il9r	C	A	11: 32,144,389 (GRCm39)	V139L	possibly damaging	Het
Immt	A	G	6: 71,823,353 (GRCm39)	D68G	probably damaging	Het
Itsn2	A	G	12: 4,682,985 (GRCm39)	I304V	unknown	Het
Lgr4	G	A	2: 109,826,974 (GRCm39)	W159*	probably null	Het
Lin52	G	A	12: 84,504,728 (GRCm39)	G38S	probably damaging	Het
Lpgat1	A	T	1: 191,451,565 (GRCm39)	M64L	probably benign	Het
Lrrc10b	G	T	19: 10,434,142 (GRCm39)	R180S	possibly damaging	Het
Lrrc36	A	T	8: 106,176,401 (GRCm39)	L258F	possibly damaging	Het
Ltbp4	T	A	7: 27,029,180 (GRCm39)	Q235L	unknown	Het
Maml2	A	G	9: 13,532,903 (GRCm39)	M706V		Het
Mc5r	G	T	18: 68,472,739 (GRCm39)	C366F	probably damaging	Het
Mlip	T	C	9: 77,072,124 (GRCm39)	R244G	probably benign	Het
Muc16	T	A	9: 18,496,309 (GRCm39)	R6658S	probably benign	Het
Mup4	G	T	4: 59,960,046 (GRCm39)	H73N	possibly damaging	Het
Nf1	A	G	11: 79,455,769 (GRCm39)	M565V	probably benign	Het
Nphp1	G	A	2: 127,603,137 (GRCm39)	T382I	possibly damaging	Het
Nrcam	C	T	12: 44,610,809 (GRCm39)	T503I	possibly damaging	Het
Nwd2	A	T	5: 63,957,752 (GRCm39)	N361Y	probably damaging	Het
Or10a3	A	T	7: 108,480,023 (GRCm39)	H263Q	probably damaging	Het
Or4f15	A	T	2: 111,813,672 (GRCm39)	L249*	probably null	Het
Or5ak23	A	T	2: 85,244,788 (GRCm39)	V145E	probably damaging	Het
Or6f1	A	G	7: 85,970,782 (GRCm39)	I126T	probably damaging	Het
Or7g21	A	G	9: 19,032,965 (GRCm39)	Y235C	probably benign	Het
Or8j3	A	G	2: 86,028,917 (GRCm39)	Y60H	probably damaging	Het
Or9a7	G	T	6: 40,521,829 (GRCm39)	A28E	probably damaging	Het
Orc5	A	G	5: 22,728,582 (GRCm39)	F308L	probably benign	Het
Padi1	T	A	4: 140,559,715 (GRCm39)	Y54F	probably benign	Het
Parp1	A	G	1: 180,396,665 (GRCm39)	K23E	possibly damaging	Het
Pate1	A	T	9: 35,597,268 (GRCm39)	V79D	possibly damaging	Het
Pcdh18	T	C	3: 49,711,309 (GRCm39)	H2R	probably benign	Het
Pcnx2	G	A	8: 126,613,822 (GRCm39)	S543F	probably damaging	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Pnkp	T	A	7: 44,509,158 (GRCm39)	F169L	probably damaging	Het
Ppp6r3	A	T	19: 3,557,325 (GRCm39)	N254K	probably damaging	Het
Psd	A	G	19: 46,312,893 (GRCm39)	L159P	probably benign	Het
Ptprf	A	G	4: 118,088,866 (GRCm39)	Y646H	probably damaging	Het
Rab3ip	A	T	10: 116,773,538 (GRCm39)	S92T	probably benign	Het
Rabgef1	A	G	5: 130,216,192 (GRCm39)		probably benign	Het
Ralgapa1	C	A	12: 55,755,789 (GRCm39)	W1129L	probably damaging	Het
Rhpn2	T	A	7: 35,084,888 (GRCm39)	L594Q	probably benign	Het
Rnf38	C	A	4: 44,158,989 (GRCm39)		probably benign	Het
Ryr2	T	A	13: 11,753,080 (GRCm39)	H1747L	possibly damaging	Het
Sec16a	A	G	2: 26,329,729 (GRCm39)	L13P	unknown	Het
Spef1l	A	T	7: 139,558,458 (GRCm39)		probably null	Het
Sppl3	C	A	5: 115,220,394 (GRCm39)	T102K	probably damaging	Het
Srgap2	A	T	1: 131,219,351 (GRCm39)	Y264*	probably null	Het
Stxbp2	T	C	8: 3,691,151 (GRCm39)	M465T		Het
Sumf2	A	G	5: 129,891,551 (GRCm39)	K305R	probably benign	Het
Susd2	T	A	10: 75,478,399 (GRCm39)	Y59F	probably benign	Het
Taco1	T	C	11: 105,963,443 (GRCm39)	V198A	probably benign	Het
Tas2r136	A	T	6: 132,754,869 (GRCm39)	M86K	possibly damaging	Het
Tbc1d10c	T	C	19: 4,234,897 (GRCm39)	E388G	possibly damaging	Het
Tmem132c	C	T	5: 127,641,123 (GRCm39)	T1098I	possibly damaging	Het
Trim3	G	T	7: 105,267,007 (GRCm39)	Y457*	probably null	Het
Ttc38	A	G	15: 85,737,062 (GRCm39)	T316A	probably benign	Het
Ubqln4	T	A	3: 88,463,217 (GRCm39)	N127K	probably benign	Het
Wdr91	A	T	6: 34,881,561 (GRCm39)	F262Y	probably damaging	Het
Zdhhc6	A	T	19: 55,291,187 (GRCm39)	C343S	possibly damaging	Het
Zfp248	A	G	6: 118,407,170 (GRCm39)	C140R	probably damaging	Het
Zfp266	T	C	9: 20,413,391 (GRCm39)	T90A	probably benign	Het
Zfp407	A	T	18: 84,577,167 (GRCm39)	D1315E	possibly damaging	Het
Zfp644	T	C	5: 106,786,143 (GRCm39)	S135G	probably benign	Het
Zscan29	A	T	2: 120,991,469 (GRCm39)	I773N	probably damaging	Het
Zswim5	T	A	4: 116,838,031 (GRCm39)	V787E	possibly damaging	Het

Other mutations in Catsperg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00808:Catsperg1	APN	7	28,897,571 (GRCm39)	missense	probably damaging	1.00
IGL01693:Catsperg1	APN	7	28,884,523 (GRCm39)	unclassified	probably benign
IGL01935:Catsperg1	APN	7	28,895,296 (GRCm39)	splice site	probably null
IGL02484:Catsperg1	APN	7	28,910,345 (GRCm39)	start gained	probably benign
IGL02584:Catsperg1	APN	7	28,884,146 (GRCm39)	missense	probably damaging	1.00
IGL02880:Catsperg1	APN	7	28,894,910 (GRCm39)	missense	possibly damaging	0.75
IGL03268:Catsperg1	APN	7	28,899,668 (GRCm39)	missense	probably damaging	1.00
IGL03285:Catsperg1	APN	7	28,897,597 (GRCm39)	missense	possibly damaging	0.89
solid	UTSW	7	28,889,723 (GRCm39)	nonsense	probably null
K7894:Catsperg1	UTSW	7	28,896,579 (GRCm39)	intron	probably benign
R0180:Catsperg1	UTSW	7	28,889,856 (GRCm39)	splice site	probably null
R0344:Catsperg1	UTSW	7	28,894,965 (GRCm39)	missense	probably damaging	1.00
R0523:Catsperg1	UTSW	7	28,884,615 (GRCm39)	unclassified	probably benign
R0561:Catsperg1	UTSW	7	28,881,737 (GRCm39)	missense	probably damaging	1.00
R0610:Catsperg1	UTSW	7	28,890,044 (GRCm39)	missense	probably damaging	1.00
R0762:Catsperg1	UTSW	7	28,889,377 (GRCm39)	missense	probably benign	0.03
R1074:Catsperg1	UTSW	7	28,906,274 (GRCm39)	missense	probably damaging	1.00
R1201:Catsperg1	UTSW	7	28,891,095 (GRCm39)	missense	possibly damaging	0.77
R1346:Catsperg1	UTSW	7	28,881,759 (GRCm39)	splice site	probably null
R1387:Catsperg1	UTSW	7	28,906,289 (GRCm39)	missense	probably damaging	1.00
R1467:Catsperg1	UTSW	7	28,884,433 (GRCm39)	missense	probably damaging	1.00
R1467:Catsperg1	UTSW	7	28,884,433 (GRCm39)	missense	probably damaging	1.00
R1486:Catsperg1	UTSW	7	28,884,920 (GRCm39)	missense	probably damaging	1.00
R1883:Catsperg1	UTSW	7	28,881,661 (GRCm39)	critical splice donor site	probably null
R1932:Catsperg1	UTSW	7	28,897,568 (GRCm39)	missense	probably damaging	1.00
R1942:Catsperg1	UTSW	7	28,906,232 (GRCm39)	missense	possibly damaging	0.89
R2127:Catsperg1	UTSW	7	28,884,465 (GRCm39)	missense	probably damaging	1.00
R2205:Catsperg1	UTSW	7	28,884,671 (GRCm39)	nonsense	probably null
R4214:Catsperg1	UTSW	7	28,895,357 (GRCm39)	missense	possibly damaging	0.80
R4678:Catsperg1	UTSW	7	28,889,721 (GRCm39)	missense	probably benign	0.13
R5008:Catsperg1	UTSW	7	28,894,859 (GRCm39)	nonsense	probably null
R5217:Catsperg1	UTSW	7	28,889,723 (GRCm39)	nonsense	probably null
R5268:Catsperg1	UTSW	7	28,894,672 (GRCm39)	missense	probably benign	0.41
R5372:Catsperg1	UTSW	7	28,910,137 (GRCm39)	missense	probably benign	0.08
R5393:Catsperg1	UTSW	7	28,884,924 (GRCm39)	missense	probably damaging	1.00
R5406:Catsperg1	UTSW	7	28,884,948 (GRCm39)	missense	probably damaging	1.00
R5557:Catsperg1	UTSW	7	28,895,296 (GRCm39)	missense	possibly damaging	0.89
R5921:Catsperg1	UTSW	7	28,889,948 (GRCm39)	missense	possibly damaging	0.78
R5928:Catsperg1	UTSW	7	28,906,040 (GRCm39)	missense	probably damaging	0.99
R5960:Catsperg1	UTSW	7	28,884,208 (GRCm39)	unclassified	probably benign
R6053:Catsperg1	UTSW	7	28,910,239 (GRCm39)	nonsense	probably null
R6144:Catsperg1	UTSW	7	28,910,120 (GRCm39)	missense	probably damaging	0.99
R6215:Catsperg1	UTSW	7	28,899,664 (GRCm39)	missense	probably damaging	1.00
R6334:Catsperg1	UTSW	7	28,905,782 (GRCm39)	missense	probably benign	0.01
R6446:Catsperg1	UTSW	7	28,905,992 (GRCm39)	missense	probably benign	0.00
R6854:Catsperg1	UTSW	7	28,881,127 (GRCm39)	missense	possibly damaging	0.72
R7171:Catsperg1	UTSW	7	28,884,637 (GRCm39)	missense	probably damaging	1.00
R7382:Catsperg1	UTSW	7	28,904,269 (GRCm39)	missense	probably benign	0.02
R7473:Catsperg1	UTSW	7	28,894,903 (GRCm39)	missense	probably damaging	1.00
R7555:Catsperg1	UTSW	7	28,889,239 (GRCm39)	missense	probably damaging	0.97
R7714:Catsperg1	UTSW	7	28,884,907 (GRCm39)	missense	probably null	1.00
R7914:Catsperg1	UTSW	7	28,894,851 (GRCm39)	missense	probably benign
R7935:Catsperg1	UTSW	7	28,895,344 (GRCm39)	missense	possibly damaging	0.94
R8684:Catsperg1	UTSW	7	28,897,825 (GRCm39)	missense	probably damaging	1.00
R8733:Catsperg1	UTSW	7	28,891,111 (GRCm39)	missense	possibly damaging	0.95
R8821:Catsperg1	UTSW	7	28,904,361 (GRCm39)	splice site	probably benign
R9014:Catsperg1	UTSW	7	28,906,066 (GRCm39)	missense	probably damaging	1.00
R9016:Catsperg1	UTSW	7	28,891,162 (GRCm39)	missense	probably benign
R9093:Catsperg1	UTSW	7	28,884,152 (GRCm39)	missense	probably damaging	1.00
R9094:Catsperg1	UTSW	7	28,884,152 (GRCm39)	missense	probably damaging	1.00
R9096:Catsperg1	UTSW	7	28,884,152 (GRCm39)	missense	probably damaging	1.00
R9146:Catsperg1	UTSW	7	28,909,912 (GRCm39)	missense	probably benign	0.07
R9149:Catsperg1	UTSW	7	28,909,912 (GRCm39)	missense	probably benign	0.07
R9297:Catsperg1	UTSW	7	28,891,085 (GRCm39)	missense	probably benign	0.23
R9339:Catsperg1	UTSW	7	28,894,885 (GRCm39)	missense	probably benign	0.44
R9435:Catsperg1	UTSW	7	28,889,751 (GRCm39)	missense	probably benign	0.02
R9451:Catsperg1	UTSW	7	28,897,772 (GRCm39)	critical splice donor site	probably null
R9478:Catsperg1	UTSW	7	28,897,777 (GRCm39)	missense	possibly damaging	0.55
R9557:Catsperg1	UTSW	7	28,904,223 (GRCm39)	missense	probably damaging	1.00
Z1186:Catsperg1	UTSW	7	28,881,287 (GRCm39)	missense	possibly damaging	0.85
Z1186:Catsperg1	UTSW	7	28,881,286 (GRCm39)	missense	possibly damaging	0.85
Z1186:Catsperg1	UTSW	7	28,889,675 (GRCm39)	missense	probably benign
Z1186:Catsperg1	UTSW	7	28,881,547 (GRCm39)	missense	probably benign	0.00
Z1186:Catsperg1	UTSW	7	28,881,477 (GRCm39)	missense	probably damaging	1.00
Z1186:Catsperg1	UTSW	7	28,881,297 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTAGTCACTTGGTGTACTGACTC -3'
(R):5'- TGCAAGTGGGTGTTAATCCC -3'

Sequencing Primer
(F):5'- CACTTGGTGTACTGACTCGAGATC -3'
(R):5'- GTGGGTGTTAATCCCCACGTTC -3'

Posted On

2019-09-13