Mutagenetix > Incidental Mutation

Incidental Mutation 'R2851:Catsperd'

252264

Institutional Source

Beutler Lab

Gene Symbol

Catsperd

Ensembl Gene

ENSMUSG00000040828

Gene Name

cation channel sperm associated auxiliary subunit delta

Synonyms

4933402B14Rik, Gm6095, 4921529N20Rik, Tmem146

MMRRC Submission

040444-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R2851 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56935143-56971456 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 56967169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108603 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112979]

AlphaFold

E9Q9F6

Predicted Effect

probably null
Transcript: ENSMUST00000112979

SMART Domains

Protein: ENSMUSP00000108603
Gene: ENSMUSG00000040828

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:CATSPERD	38	766	N/A	PFAM

Meta Mutation Damage Score

0.9478

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (61/62)

MGI Phenotype

PHENOTYPE: Mice homozygous for a deletion in this gene display male infertility. Hyperactivity of sperm fails to develop under capacitating conditions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2cl	T	C	9: 110,723,203 (GRCm39)	S636P	probably damaging	Het
Arhgef4	A	C	1: 34,763,129 (GRCm39)	D795A	unknown	Het
Bank1	A	T	3: 135,948,701 (GRCm39)	S159T	possibly damaging	Het
Ccdc85a	A	G	11: 28,342,942 (GRCm39)		probably benign	Het
Ceacam11	T	C	7: 17,712,451 (GRCm39)	I300T	probably benign	Het
Cmtm5	A	G	14: 55,175,512 (GRCm39)		probably benign	Het
Cnn3	C	T	3: 121,243,702 (GRCm39)		probably benign	Het
Col12a1	A	T	9: 79,585,614 (GRCm39)	N1254K	probably damaging	Het
Crispld2	T	A	8: 120,740,828 (GRCm39)	L107Q	probably damaging	Het
Ctr9	C	T	7: 110,652,653 (GRCm39)	R984C	unknown	Het
Cyp1b1	T	C	17: 80,017,649 (GRCm39)	N502S	probably benign	Het
Cyp51	A	T	5: 4,149,183 (GRCm39)	D231E	probably damaging	Het
Depdc5	A	G	5: 33,081,515 (GRCm39)	E559G	probably damaging	Het
Dnai4	A	G	4: 102,953,858 (GRCm39)	S114P	probably benign	Het
Dscam	T	C	16: 96,423,915 (GRCm39)	T1677A	possibly damaging	Het
Dzip1	A	C	14: 119,159,857 (GRCm39)	M117R	possibly damaging	Het
Ednrb	G	T	14: 104,059,110 (GRCm39)	S305R	probably benign	Het
Emilin1	A	G	5: 31,074,509 (GRCm39)	D250G	probably benign	Het
Frrs1	A	G	3: 116,678,778 (GRCm39)	N200S	probably benign	Het
Fstl5	T	A	3: 76,337,045 (GRCm39)		probably benign	Het
Gmcl1	A	C	6: 86,703,159 (GRCm39)	S92A	probably damaging	Het
Gpr62	T	C	9: 106,341,911 (GRCm39)	E339G	probably benign	Het
Hspd1	A	T	1: 55,120,256 (GRCm39)	D315E	probably damaging	Het
Il19	A	G	1: 130,863,694 (GRCm39)	V99A	possibly damaging	Het
Itga9	G	A	9: 118,465,604 (GRCm39)	E153K	probably damaging	Het
Itgad	T	A	7: 127,803,732 (GRCm39)	V42E	probably benign	Het
Krt82	T	C	15: 101,456,870 (GRCm39)	Y170C	probably damaging	Het
Map4k4	T	A	1: 40,039,915 (GRCm39)		probably benign	Het
Mdc1	T	A	17: 36,159,902 (GRCm39)	V670D	probably benign	Het
Mfsd4b2	T	A	10: 39,798,119 (GRCm39)	S79C	probably benign	Het
Mre11a	A	G	9: 14,737,843 (GRCm39)	E599G	probably benign	Het
Mthfsd	G	A	8: 121,832,512 (GRCm39)	T60I	probably benign	Het
Mycbp2	A	T	14: 103,381,769 (GRCm39)	F3724I	probably damaging	Het
Nceh1	A	G	3: 27,295,504 (GRCm39)	Y255C	probably damaging	Het
Ncoa2	C	T	1: 13,257,113 (GRCm39)	V129I	probably damaging	Het
Ndufb5	T	C	3: 32,800,600 (GRCm39)	F58L	probably damaging	Het
Npsr1	A	G	9: 24,221,301 (GRCm39)		probably benign	Het
Obscn	C	A	11: 58,920,844 (GRCm39)		probably null	Het
Pdzd7	C	G	19: 45,016,113 (GRCm39)	V1003L	probably benign	Het
Pias3	A	G	3: 96,610,853 (GRCm39)	E377G	possibly damaging	Het
Pilra	T	A	5: 137,834,342 (GRCm39)	M14L	probably benign	Het
Pkhd1	T	C	1: 20,128,526 (GRCm39)	Q4059R	probably benign	Het
Ppa2	A	T	3: 133,026,764 (GRCm39)		probably null	Het
Proser1	G	A	3: 53,387,966 (GRCm39)	A885T	probably benign	Het
Robo2	A	G	16: 73,758,776 (GRCm39)	I665T	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Secisbp2	G	A	13: 51,808,671 (GRCm39)		probably null	Het
Setbp1	T	A	18: 78,967,211 (GRCm39)	Q171L	probably benign	Het
Spata1	A	G	3: 146,193,295 (GRCm39)	L96P	possibly damaging	Het
Srprb	G	A	9: 103,076,038 (GRCm39)	Q800*	probably null	Het
Stk11ip	A	G	1: 75,505,911 (GRCm39)		probably benign	Het
Tbl3	T	C	17: 24,921,557 (GRCm39)	T445A	probably damaging	Het
Tdrd12	G	A	7: 35,184,798 (GRCm39)	T705M	probably damaging	Het
Tek	A	G	4: 94,708,461 (GRCm39)	T340A	probably benign	Het
Timm22	G	A	11: 76,304,925 (GRCm39)	A188T	probably damaging	Het
Tmeff1	T	A	4: 48,604,692 (GRCm39)		probably null	Het
Tmprss12	C	A	15: 100,180,296 (GRCm39)	T112K	possibly damaging	Het
U2surp	A	G	9: 95,382,735 (GRCm39)		probably null	Het
Vmn2r84	T	A	10: 130,230,036 (GRCm39)	E25D	probably benign	Het
Wdr62	A	T	7: 29,960,862 (GRCm39)	N22K	possibly damaging	Het
Zfp653	A	T	9: 21,968,862 (GRCm39)	D426E	probably benign	Het
Zfyve28	G	A	5: 34,354,006 (GRCm39)	P834L	probably damaging	Het
Zkscan16	A	G	4: 58,957,364 (GRCm39)	T549A	possibly damaging	Het

Other mutations in Catsperd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02514:Catsperd	APN	17	56,968,271 (GRCm39)	missense	probably damaging	0.98
IGL02598:Catsperd	APN	17	56,954,815 (GRCm39)	splice site	probably null
IGL03037:Catsperd	APN	17	56,948,583 (GRCm39)	missense	possibly damaging	0.80
IGL03330:Catsperd	APN	17	56,939,316 (GRCm39)	missense	possibly damaging	0.45
R0391:Catsperd	UTSW	17	56,969,821 (GRCm39)	missense	probably benign	0.00
R0463:Catsperd	UTSW	17	56,966,554 (GRCm39)	missense	probably damaging	0.99
R0506:Catsperd	UTSW	17	56,965,078 (GRCm39)	missense	possibly damaging	0.95
R0538:Catsperd	UTSW	17	56,969,828 (GRCm39)	missense	probably benign	0.00
R0550:Catsperd	UTSW	17	56,970,427 (GRCm39)	critical splice donor site	probably null
R1503:Catsperd	UTSW	17	56,961,525 (GRCm39)	missense	possibly damaging	0.63
R1705:Catsperd	UTSW	17	56,940,521 (GRCm39)	missense	probably damaging	0.97
R1919:Catsperd	UTSW	17	56,942,548 (GRCm39)	missense	probably damaging	0.99
R2852:Catsperd	UTSW	17	56,967,169 (GRCm39)	critical splice acceptor site	probably null
R3147:Catsperd	UTSW	17	56,971,039 (GRCm39)	missense	possibly damaging	0.86
R3148:Catsperd	UTSW	17	56,971,039 (GRCm39)	missense	possibly damaging	0.86
R4084:Catsperd	UTSW	17	56,961,453 (GRCm39)	missense	probably benign	0.14
R4329:Catsperd	UTSW	17	56,961,517 (GRCm39)	missense	possibly damaging	0.80
R4940:Catsperd	UTSW	17	56,969,736 (GRCm39)	missense	possibly damaging	0.95
R4944:Catsperd	UTSW	17	56,969,744 (GRCm39)	missense	probably damaging	0.97
R4952:Catsperd	UTSW	17	56,939,303 (GRCm39)	missense	probably damaging	0.99
R5079:Catsperd	UTSW	17	56,965,153 (GRCm39)	critical splice donor site	probably null
R5259:Catsperd	UTSW	17	56,967,235 (GRCm39)	missense	possibly damaging	0.93
R5635:Catsperd	UTSW	17	56,939,335 (GRCm39)	missense	possibly damaging	0.95
R5929:Catsperd	UTSW	17	56,959,493 (GRCm39)	missense	probably benign	0.00
R6789:Catsperd	UTSW	17	56,961,426 (GRCm39)	splice site	probably null
R6909:Catsperd	UTSW	17	56,957,781 (GRCm39)	missense	probably damaging	0.96
R6920:Catsperd	UTSW	17	56,962,175 (GRCm39)	nonsense	probably null
R7099:Catsperd	UTSW	17	56,935,811 (GRCm39)	splice site	probably null
R7106:Catsperd	UTSW	17	56,965,070 (GRCm39)	splice site	probably null
R7371:Catsperd	UTSW	17	56,957,801 (GRCm39)	missense	probably benign	0.22
R7405:Catsperd	UTSW	17	56,939,335 (GRCm39)	missense	possibly damaging	0.95
R7478:Catsperd	UTSW	17	56,971,055 (GRCm39)	missense	probably benign	0.00
R7781:Catsperd	UTSW	17	56,971,072 (GRCm39)	missense	probably benign	0.00
R7918:Catsperd	UTSW	17	56,938,564 (GRCm39)	missense	probably benign	0.06
R7981:Catsperd	UTSW	17	56,938,562 (GRCm39)	missense	possibly damaging	0.85
R8200:Catsperd	UTSW	17	56,939,368 (GRCm39)	critical splice donor site	probably null
R8487:Catsperd	UTSW	17	56,970,419 (GRCm39)	missense	probably damaging	1.00
R8974:Catsperd	UTSW	17	56,959,525 (GRCm39)	missense	possibly damaging	0.45
R9025:Catsperd	UTSW	17	56,962,156 (GRCm39)	missense	probably damaging	0.98
R9179:Catsperd	UTSW	17	56,968,252 (GRCm39)	missense	probably benign	0.00
R9180:Catsperd	UTSW	17	56,968,252 (GRCm39)	missense	probably benign	0.00
R9185:Catsperd	UTSW	17	56,968,252 (GRCm39)	missense	probably benign	0.00
R9200:Catsperd	UTSW	17	56,935,229 (GRCm39)	missense	unknown
R9328:Catsperd	UTSW	17	56,965,074 (GRCm39)	missense	possibly damaging	0.51
R9419:Catsperd	UTSW	17	56,958,821 (GRCm39)	missense	probably benign	0.00
R9443:Catsperd	UTSW	17	56,969,720 (GRCm39)	missense	possibly damaging	0.95
R9575:Catsperd	UTSW	17	56,935,231 (GRCm39)	missense	unknown
R9617:Catsperd	UTSW	17	56,968,252 (GRCm39)	missense	probably benign	0.00
R9663:Catsperd	UTSW	17	56,960,751 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TGAGCCATCTCTGTAAGCCTC -3'
(R):5'- CTGGGCCGATTCAGTTTTAAATC -3'

Sequencing Primer
(F):5'- ACTGATTAAGAAGGCTTTGGGATCC -3'
(R):5'- GGCCGATTCAGTTTTAAATCAATCAC -3'

Posted On

2014-12-04