Mutagenetix > Incidental Mutation

Incidental Mutation 'R8060:Catsperb'

619668

Institutional Source

Beutler Lab

Gene Symbol

Catsperb

Ensembl Gene

ENSMUSG00000047014

Gene Name

cation channel sperm associated auxiliary subunit beta

Synonyms

4932415G16Rik

MMRRC Submission

067496-MU

Accession Numbers

Essential gene?

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

Stock #

R8060 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101370912-101592268 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101569025 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 899 (N899I)

Ref Sequence

ENSEMBL: ENSMUSP00000052089 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055156] [ENSMUST00000221241]

AlphaFold

A2RTF1

Predicted Effect

probably damaging
Transcript: ENSMUST00000055156
AA Change: N899I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000052089
Gene: ENSMUSG00000047014
AA Change: N899I

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
transmembrane domain	73	95	N/A	INTRINSIC
Pfam:CATSPERB	569	1088	1.1e-258	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000221241

Meta Mutation Damage Score

0.0844

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamdc	A	T	7: 97,224,855 (GRCm39)	Y2*	probably null	Het
Ano5	T	A	7: 51,237,531 (GRCm39)	V785E	probably benign	Het
Arhgef10	A	T	8: 15,004,446 (GRCm39)	R399S	probably damaging	Het
Arhgef40	A	G	14: 52,222,452 (GRCm39)		probably benign	Het
Armc3	G	T	2: 19,293,720 (GRCm39)	V504L	probably benign	Het
Asb10	T	A	5: 24,738,833 (GRCm39)	Y408F	probably benign	Het
Ccdc112	T	C	18: 46,426,529 (GRCm39)	I131M	probably damaging	Het
Chrnb3	T	A	8: 27,884,588 (GRCm39)	S442T	unknown	Het
Cit	G	A	5: 116,046,786 (GRCm39)	V400M	probably benign	Het
Copg1	T	C	6: 87,886,703 (GRCm39)	F772L	probably damaging	Het
Cts3	T	A	13: 61,714,580 (GRCm39)	I242F	probably damaging	Het
Dock1	T	A	7: 134,770,132 (GRCm39)	D1797E	probably benign	Het
Dock1	T	A	7: 134,592,358 (GRCm39)		probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Fam171a2	T	C	11: 102,329,436 (GRCm39)	K441R	possibly damaging	Het
H2-DMa	A	G	17: 34,356,259 (GRCm39)	E87G	probably benign	Het
Has2	T	A	15: 56,533,341 (GRCm39)	M225L	probably benign	Het
Hnrnpll	A	G	17: 80,341,534 (GRCm39)	S502P	probably damaging	Het
Hnrnpul1	G	T	7: 25,447,768 (GRCm39)	F185L	possibly damaging	Het
Hoxd11	G	A	2: 74,512,720 (GRCm39)		probably benign	Het
Larp1b	T	C	3: 40,939,837 (GRCm39)	V330A		Het
Mast4	T	C	13: 102,874,184 (GRCm39)	E1728G	possibly damaging	Het
Minpp1	T	A	19: 32,471,303 (GRCm39)	F284I	probably damaging	Het
Moxd1	A	G	10: 24,177,510 (GRCm39)	S609G	unknown	Het
Myh1	A	C	11: 67,106,077 (GRCm39)	M1231L	probably benign	Het
Nup107	T	C	10: 117,599,674 (GRCm39)	E615G	probably damaging	Het
Or1e27-ps1	T	C	11: 73,555,765 (GRCm39)	I110T	probably benign	Het
Or4c10	A	T	2: 89,760,693 (GRCm39)	N180I	probably benign	Het
Or4p7	A	G	2: 88,221,848 (GRCm39)	T86A	probably benign	Het
Or5p55	A	G	7: 107,566,612 (GRCm39)	T3A	probably benign	Het
Or5w20	A	T	2: 87,727,317 (GRCm39)	Y258F	probably damaging	Het
Or6c205	A	C	10: 129,086,915 (GRCm39)	T171P	possibly damaging	Het
Pln	A	T	10: 53,219,993 (GRCm39)	I12F	unknown	Het
Pomt2	G	A	12: 87,175,780 (GRCm39)	A388V	probably damaging	Het
Rbl2	T	A	8: 91,823,497 (GRCm39)		probably null	Het
Rnpep	T	C	1: 135,194,658 (GRCm39)	Y459C	probably damaging	Het
Slc23a4	T	C	6: 34,925,336 (GRCm39)	T498A	probably damaging	Het
Slc2a4	A	T	11: 69,835,836 (GRCm39)	L338M	possibly damaging	Het
Smco2	C	A	6: 146,768,283 (GRCm39)	Q221K	probably benign	Het
Snx20	G	T	8: 89,354,273 (GRCm39)	C152*	probably null	Het
Spata16	T	C	3: 26,894,869 (GRCm39)	L306P	probably damaging	Het
Spata20	A	T	11: 94,373,065 (GRCm39)	F520L	probably benign	Het
Sptbn1	A	T	11: 30,051,616 (GRCm39)	D2290E	probably damaging	Het
Tnfrsf11b	G	A	15: 54,117,505 (GRCm39)	T250I	probably benign	Het
Trim34a	G	T	7: 103,910,183 (GRCm39)	W328C	probably damaging	Het
Trim42	T	G	9: 97,245,532 (GRCm39)	M423L	probably damaging	Het
Trpm4	T	C	7: 44,954,875 (GRCm39)	K1055E	probably damaging	Het
Trpv5	T	A	6: 41,651,465 (GRCm39)	K238*	probably null	Het
Tshr	A	C	12: 91,505,134 (GRCm39)	I691L	probably benign	Het
Vmn2r-ps117	A	T	17: 19,058,124 (GRCm39)	H560L	possibly damaging	Het

Other mutations in Catsperb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00532:Catsperb	APN	12	101,429,378 (GRCm39)	missense	probably damaging	1.00
IGL00580:Catsperb	APN	12	101,557,788 (GRCm39)	missense	probably benign	0.01
IGL00661:Catsperb	APN	12	101,554,357 (GRCm39)	missense	probably damaging	1.00
IGL00979:Catsperb	APN	12	101,381,584 (GRCm39)	missense	probably benign	0.34
IGL01154:Catsperb	APN	12	101,591,940 (GRCm39)	missense	possibly damaging	0.79
IGL01360:Catsperb	APN	12	101,591,513 (GRCm39)	missense	probably damaging	1.00
IGL01607:Catsperb	APN	12	101,446,985 (GRCm39)	splice site	probably benign
IGL01679:Catsperb	APN	12	101,557,841 (GRCm39)	splice site	probably null
IGL01827:Catsperb	APN	12	101,557,799 (GRCm39)	missense	probably benign	0.00
IGL01866:Catsperb	APN	12	101,475,570 (GRCm39)	nonsense	probably null
IGL02161:Catsperb	APN	12	101,375,674 (GRCm39)	splice site	probably benign
IGL02177:Catsperb	APN	12	101,507,721 (GRCm39)	missense	probably damaging	1.00
IGL02618:Catsperb	APN	12	101,446,983 (GRCm39)	splice site	probably benign
IGL02721:Catsperb	APN	12	101,591,556 (GRCm39)	missense	probably null	1.00
IGL02828:Catsperb	APN	12	101,447,041 (GRCm39)	missense	probably benign	0.00
BB001:Catsperb	UTSW	12	101,486,824 (GRCm39)	missense	probably benign	0.02
BB011:Catsperb	UTSW	12	101,486,824 (GRCm39)	missense	probably benign	0.02
R0571:Catsperb	UTSW	12	101,569,033 (GRCm39)	missense	possibly damaging	0.72
R0727:Catsperb	UTSW	12	101,560,614 (GRCm39)	splice site	probably null
R0842:Catsperb	UTSW	12	101,429,307 (GRCm39)	missense	probably damaging	1.00
R1187:Catsperb	UTSW	12	101,591,991 (GRCm39)	missense	probably benign	0.07
R1432:Catsperb	UTSW	12	101,588,476 (GRCm39)	missense	probably damaging	1.00
R1449:Catsperb	UTSW	12	101,554,456 (GRCm39)	missense	probably benign	0.09
R1488:Catsperb	UTSW	12	101,560,526 (GRCm39)	missense	probably damaging	0.97
R1540:Catsperb	UTSW	12	101,378,589 (GRCm39)	missense	probably benign	0.02
R1560:Catsperb	UTSW	12	101,591,985 (GRCm39)	missense	probably benign	0.01
R1563:Catsperb	UTSW	12	101,554,361 (GRCm39)	missense	probably damaging	1.00
R1583:Catsperb	UTSW	12	101,429,373 (GRCm39)	missense	probably damaging	0.96
R1989:Catsperb	UTSW	12	101,568,970 (GRCm39)	missense	probably damaging	1.00
R1993:Catsperb	UTSW	12	101,569,026 (GRCm39)	missense	possibly damaging	0.86
R1995:Catsperb	UTSW	12	101,569,026 (GRCm39)	missense	possibly damaging	0.86
R2037:Catsperb	UTSW	12	101,474,221 (GRCm39)	missense	probably damaging	1.00
R2186:Catsperb	UTSW	12	101,447,041 (GRCm39)	missense	probably benign	0.00
R2217:Catsperb	UTSW	12	101,560,478 (GRCm39)	missense	probably damaging	0.99
R2391:Catsperb	UTSW	12	101,590,965 (GRCm39)	missense	probably damaging	1.00
R2679:Catsperb	UTSW	12	101,429,404 (GRCm39)	missense	probably damaging	1.00
R3848:Catsperb	UTSW	12	101,475,585 (GRCm39)	missense	probably damaging	0.98
R4023:Catsperb	UTSW	12	101,568,942 (GRCm39)	nonsense	probably null
R4507:Catsperb	UTSW	12	101,447,087 (GRCm39)	critical splice donor site	probably null
R4558:Catsperb	UTSW	12	101,557,799 (GRCm39)	missense	possibly damaging	0.94
R4649:Catsperb	UTSW	12	101,507,771 (GRCm39)	missense	probably benign	0.01
R4651:Catsperb	UTSW	12	101,507,771 (GRCm39)	missense	probably benign	0.01
R4866:Catsperb	UTSW	12	101,474,208 (GRCm39)	missense	probably damaging	1.00
R4873:Catsperb	UTSW	12	101,554,244 (GRCm39)	missense	possibly damaging	0.90
R4875:Catsperb	UTSW	12	101,554,244 (GRCm39)	missense	possibly damaging	0.90
R4897:Catsperb	UTSW	12	101,569,025 (GRCm39)	missense	probably damaging	0.98
R5002:Catsperb	UTSW	12	101,486,813 (GRCm39)	missense	probably benign
R5137:Catsperb	UTSW	12	101,516,070 (GRCm39)	missense	probably damaging	0.96
R5396:Catsperb	UTSW	12	101,560,543 (GRCm39)	missense	possibly damaging	0.90
R5450:Catsperb	UTSW	12	101,412,327 (GRCm39)	missense	possibly damaging	0.92
R5484:Catsperb	UTSW	12	101,542,175 (GRCm39)	missense	probably benign	0.38
R5846:Catsperb	UTSW	12	101,569,025 (GRCm39)	missense	probably damaging	0.98
R5905:Catsperb	UTSW	12	101,568,959 (GRCm39)	missense	possibly damaging	0.69
R5906:Catsperb	UTSW	12	101,476,721 (GRCm39)	missense	probably damaging	1.00
R6034:Catsperb	UTSW	12	101,542,091 (GRCm39)	missense	probably benign
R6034:Catsperb	UTSW	12	101,542,091 (GRCm39)	missense	probably benign
R6149:Catsperb	UTSW	12	101,516,098 (GRCm39)	missense	probably damaging	1.00
R6165:Catsperb	UTSW	12	101,542,075 (GRCm39)	missense	possibly damaging	0.90
R6210:Catsperb	UTSW	12	101,378,827 (GRCm39)	splice site	probably null
R6297:Catsperb	UTSW	12	101,557,655 (GRCm39)	splice site	probably null
R6302:Catsperb	UTSW	12	101,554,402 (GRCm39)	missense	possibly damaging	0.95
R6681:Catsperb	UTSW	12	101,590,994 (GRCm39)	nonsense	probably null
R6698:Catsperb	UTSW	12	101,475,466 (GRCm39)	missense	probably damaging	1.00
R6869:Catsperb	UTSW	12	101,446,996 (GRCm39)	missense	probably benign	0.09
R6948:Catsperb	UTSW	12	101,447,327 (GRCm39)	missense	probably benign	0.00
R7035:Catsperb	UTSW	12	101,381,593 (GRCm39)	missense	probably damaging	1.00
R7073:Catsperb	UTSW	12	101,475,497 (GRCm39)	missense	probably benign	0.09
R7100:Catsperb	UTSW	12	101,412,297 (GRCm39)	missense	possibly damaging	0.83
R7338:Catsperb	UTSW	12	101,447,243 (GRCm39)	missense	probably benign	0.08
R7397:Catsperb	UTSW	12	101,554,282 (GRCm39)	missense	possibly damaging	0.84
R7413:Catsperb	UTSW	12	101,447,307 (GRCm39)	missense	probably damaging	1.00
R7422:Catsperb	UTSW	12	101,554,293 (GRCm39)	missense	probably damaging	1.00
R7425:Catsperb	UTSW	12	101,557,757 (GRCm39)	missense	probably damaging	0.96
R7578:Catsperb	UTSW	12	101,554,544 (GRCm39)	missense	probably benign	0.01
R7924:Catsperb	UTSW	12	101,486,824 (GRCm39)	missense	probably benign	0.02
R8021:Catsperb	UTSW	12	101,554,322 (GRCm39)	missense	probably benign	0.22
R8167:Catsperb	UTSW	12	101,557,714 (GRCm39)	missense	probably benign	0.00
R8323:Catsperb	UTSW	12	101,375,658 (GRCm39)	missense	probably benign	0.02
R8425:Catsperb	UTSW	12	101,569,028 (GRCm39)	missense	probably benign
R8547:Catsperb	UTSW	12	101,412,305 (GRCm39)	missense	probably damaging	1.00
R8671:Catsperb	UTSW	12	101,560,596 (GRCm39)	missense	possibly damaging	0.70
R8906:Catsperb	UTSW	12	101,486,904 (GRCm39)	missense	possibly damaging	0.92
R9227:Catsperb	UTSW	12	101,516,053 (GRCm39)	missense	probably benign
R9230:Catsperb	UTSW	12	101,516,053 (GRCm39)	missense	probably benign
R9298:Catsperb	UTSW	12	101,560,600 (GRCm39)	missense	possibly damaging	0.91
RF006:Catsperb	UTSW	12	101,542,238 (GRCm39)	critical splice donor site	probably null
Z1177:Catsperb	UTSW	12	101,412,307 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATCATCACAGAGTCAGGTCTC -3'
(R):5'- GTGTGTGCACATGAGTACATC -3'

Sequencing Primer
(F):5'- CTCTGAAATTACAGAAACTGAGTGG -3'
(R):5'- GTACTACTTCCTAGGGGTCAAGC -3'

Posted On

2020-01-23