Mutagenetix > Incidental Mutation

Incidental Mutation 'R7338:Catsperb'

569660

Institutional Source

Beutler Lab

Gene Symbol

Catsperb

Ensembl Gene

ENSMUSG00000047014

Gene Name

cation channel sperm associated auxiliary subunit beta

Synonyms

4932415G16Rik

MMRRC Submission

045428-MU

Accession Numbers

Essential gene?

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

Stock #

R7338 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101370912-101592268 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 101447243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 248 (V248I)

Ref Sequence

ENSEMBL: ENSMUSP00000052089 (fasta)

Gene Model

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

AlphaFold

A2RTF1

Predicted Effect

probably benign
Transcript: ENSMUST00000055156
AA Change: V248I

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000052089
Gene: ENSMUSG00000047014
AA Change: V248I

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 damaging
Transcript: ENSMUST00000221241
AA Change: V248I

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

Meta Mutation Damage Score

0.0819

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,595,717 (GRCm39)	S357P	possibly damaging	Het
Arhgap28	T	C	17: 68,203,106 (GRCm39)	R166G	probably damaging	Het
Bcan	T	A	3: 87,901,550 (GRCm39)	E384V	probably damaging	Het
Bcl9l	A	G	9: 44,420,005 (GRCm39)	N1137S	probably benign	Het
Caprin1	A	G	2: 103,609,768 (GRCm39)	L170S	probably benign	Het
Card6	C	T	15: 5,129,354 (GRCm39)	E681K	probably benign	Het
Ccnj	T	A	19: 40,825,477 (GRCm39)	H62Q	probably damaging	Het
Cd180	A	C	13: 102,842,936 (GRCm39)	I661L	probably benign	Het
Cdk11b	A	G	4: 155,732,008 (GRCm39)	R473G	unknown	Het
Cep126	T	C	9: 8,099,799 (GRCm39)	T912A	possibly damaging	Het
Chek2	T	A	5: 111,021,380 (GRCm39)	V530E	probably benign	Het
Chga	G	T	12: 102,529,100 (GRCm39)	S359I	probably damaging	Het
Cnrip1	T	C	11: 17,004,657 (GRCm39)	V69A	probably damaging	Het
Cyp2a5	A	T	7: 26,542,372 (GRCm39)	Q458L	probably damaging	Het
Cyp2j11	T	A	4: 96,195,524 (GRCm39)	T391S	possibly damaging	Het
Dhx16	T	C	17: 36,199,036 (GRCm39)	L794P	probably damaging	Het
Dscaml1	A	G	9: 45,585,802 (GRCm39)	T580A	probably benign	Het
Elmo1	A	T	13: 20,464,982 (GRCm39)	I184L	probably benign	Het
Gabra1	C	T	11: 42,073,121 (GRCm39)	G51S	unknown	Het
Gabrr3	C	A	16: 59,268,439 (GRCm39)	L351I	possibly damaging	Het
Gbp7	A	T	3: 142,243,786 (GRCm39)	N111I	probably damaging	Het
Gjd2	C	T	2: 113,841,583 (GRCm39)	R298H	probably damaging	Het
Gm5930	T	C	14: 44,573,914 (GRCm39)	Y141C	probably damaging	Het
Grin3a	G	T	4: 49,771,238 (GRCm39)	N511K	probably benign	Het
Hdac7	T	C	15: 97,707,903 (GRCm39)	D122G	probably benign	Het
Ifi204	G	A	1: 173,587,703 (GRCm39)	T152I	possibly damaging	Het
Lrrc9	C	T	12: 72,510,305 (GRCm39)		probably null	Het
Med21	T	A	6: 146,544,082 (GRCm39)		probably benign	Het
Mmp19	A	T	10: 128,634,952 (GRCm39)	T523S	probably benign	Het
Nav3	G	A	10: 109,605,073 (GRCm39)	T1000I	probably benign	Het
Nherf2	T	A	17: 24,869,182 (GRCm39)		probably benign	Het
Nin	T	C	12: 70,090,838 (GRCm39)	D859G		Het
Nip7	T	G	8: 107,783,916 (GRCm39)	L52R	possibly damaging	Het
Or10d1c	A	G	9: 38,893,816 (GRCm39)	Y175H	probably damaging	Het
Or5al5	A	T	2: 85,961,726 (GRCm39)	F94I	probably damaging	Het
Or6b13	A	T	7: 139,782,446 (GRCm39)	V79E	probably benign	Het
Otop1	T	A	5: 38,457,547 (GRCm39)	Y435*	probably null	Het
Pak4	A	G	7: 28,264,381 (GRCm39)	S174P	probably benign	Het
Pcsk7	G	A	9: 45,837,287 (GRCm39)	R537Q	probably benign	Het
Podxl	G	A	6: 31,505,941 (GRCm39)	S34F	unknown	Het
Prr36	G	A	8: 4,266,212 (GRCm39)	R113C	probably damaging	Het
Ptk7	T	C	17: 46,890,525 (GRCm39)	I436V	probably benign	Het
Slc13a5	C	T	11: 72,157,310 (GRCm39)	V28I	probably benign	Het
Slco6d1	A	T	1: 98,349,097 (GRCm39)	D56V	probably benign	Het
Spg11	G	A	2: 121,885,858 (GRCm39)	R2317W	probably damaging	Het
Stom	T	A	2: 35,213,760 (GRCm39)		probably null	Het
Svs5	T	C	2: 164,174,728 (GRCm39)	L8P	possibly damaging	Het
Tmem141	C	A	2: 25,511,626 (GRCm39)	V39F	probably damaging	Het
Tmprss6	A	G	15: 78,344,019 (GRCm39)	L181P	probably damaging	Het
Tnni3	A	G	7: 4,524,379 (GRCm39)	S40P	probably benign	Het
Tubgcp4	A	G	2: 121,024,465 (GRCm39)	I548V	probably benign	Het
Twf2	A	G	9: 106,081,138 (GRCm39)		probably benign	Het
Wnt5b	C	A	6: 119,425,092 (GRCm39)		probably null	Het
Wrap73	A	G	4: 154,237,043 (GRCm39)	D210G	probably benign	Het
Yipf4	T	G	17: 74,796,771 (GRCm39)	S21A	probably benign	Het
Zscan20	A	G	4: 128,481,943 (GRCm39)	M573T	probably benign	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
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
R8060:Catsperb	UTSW	12	101,569,025 (GRCm39)	missense	probably damaging	0.98
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'- CTCACAGAGATAATCTATGCAGAAC -3'
(R):5'- AACCTTAGCCTTTCCTAGATAGC -3'

Sequencing Primer
(F):5'- CTTTGCTAAAGAGCTCACT -3'
(R):5'- TCCTAGATAGCTCTTGACAACTAC -3'

Posted On

2019-09-13