Mutagenetix > Incidental Mutation

Incidental Mutation 'R3055:Catsper3'

265142

Institutional Source

Beutler Lab

Gene Symbol

Catsper3

Ensembl Gene

ENSMUSG00000021499

Gene Name

cation channel, sperm associated 3

Synonyms

4921522D01Rik

MMRRC Submission

040564-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55932381-55956811 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55956709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 376 (S376P)

Ref Sequence

ENSEMBL: ENSMUSP00000105524 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021961] [ENSMUST00000109898]

AlphaFold

Q80W99

Predicted Effect

unknown
Transcript: ENSMUST00000021961
AA Change: S389P

SMART Domains

Protein: ENSMUSP00000021961
Gene: ENSMUSG00000021499
AA Change: S389P

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	49	277	1.8e-33	PFAM
Pfam:PKD_channel	144	273	5e-7	PFAM
coiled coil region	283	311	N/A	INTRINSIC
low complexity region	387	395	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000109898
AA Change: S376P

SMART Domains

Protein: ENSMUSP00000105524
Gene: ENSMUSG00000021499
AA Change: S376P

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	72	254	4.9e-32	PFAM
Pfam:PKD_channel	125	261	2.1e-7	PFAM
coiled coil region	270	298	N/A	INTRINSIC
low complexity region	374	382	N/A	INTRINSIC

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (50/50)

MGI Phenotype

PHENOTYPE: Mice homozygous for this mutation are viable and exhibit no gross physical or behavioral abnormality. Although wild-type and homozygous mutant females bred to wild-type males exhibit similar fertility, male homozygotes are infertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	A	G	14: 4,348,878 (GRCm38)	E13G	probably damaging	Het
5730596B20Rik	A	T	6: 52,156,108 (GRCm39)		probably benign	Het
Aadacl4fm4	A	G	4: 144,401,268 (GRCm39)	I72T	probably benign	Het
Abca16	A	G	7: 120,035,074 (GRCm39)	M287V	probably benign	Het
Abca7	G	A	10: 79,835,581 (GRCm39)	R283H	probably damaging	Het
Acad11	A	G	9: 103,953,535 (GRCm39)	I126V	probably damaging	Het
Ahrr	A	G	13: 74,373,006 (GRCm39)	V148A	probably damaging	Het
Aldh1l2	T	C	10: 83,338,336 (GRCm39)	K528E	probably benign	Het
Atp6v0a2	T	A	5: 124,765,209 (GRCm39)		probably benign	Het
Atxn10	A	G	15: 85,271,206 (GRCm39)	D248G	probably benign	Het
Bard1	A	G	1: 71,127,390 (GRCm39)	V73A	possibly damaging	Het
Ccdc150	A	G	1: 54,328,001 (GRCm39)	N361S	possibly damaging	Het
Cxcr6	A	T	9: 123,639,529 (GRCm39)	I177F	probably damaging	Het
Ddx25	A	G	9: 35,462,647 (GRCm39)	V246A	probably damaging	Het
Drd4	T	C	7: 140,874,392 (GRCm39)	V319A	probably damaging	Het
Dscam	G	A	16: 96,602,555 (GRCm39)	T629I	probably damaging	Het
Evi5l	C	T	8: 4,241,603 (GRCm39)	R311*	probably null	Het
Fxr1	A	G	3: 34,103,333 (GRCm39)	E221G	probably damaging	Het
Gldn	A	T	9: 54,245,807 (GRCm39)	T453S	probably damaging	Het
Ighm	T	A	12: 113,382,596 (GRCm39)		probably benign	Het
Ints12	G	A	3: 132,815,126 (GRCm39)	M444I	possibly damaging	Het
Lgr5	T	A	10: 115,302,028 (GRCm39)		probably benign	Het
Mier3	T	A	13: 111,827,837 (GRCm39)	D7E	probably damaging	Het
Mms19	A	T	19: 41,938,527 (GRCm39)		probably benign	Het
Mrpl20	G	T	4: 155,888,329 (GRCm39)	V43F	possibly damaging	Het
Muc5b	G	T	7: 141,417,778 (GRCm39)	V3575F	probably damaging	Het
Naip5	T	C	13: 100,358,386 (GRCm39)	Y950C	probably benign	Het
Or4d2	A	G	11: 87,784,198 (GRCm39)	V184A	possibly damaging	Het
Or5t9	T	C	2: 86,659,471 (GRCm39)	F125S	possibly damaging	Het
Or8b12b	G	T	9: 37,684,489 (GRCm39)	C178F	probably damaging	Het
Pkd1l2	T	A	8: 117,795,054 (GRCm39)		probably null	Het
Prune2	A	G	19: 17,102,407 (GRCm39)	E2522G	probably damaging	Het
Radil	T	C	5: 142,481,161 (GRCm39)	T549A	possibly damaging	Het
Radx	T	A	X: 138,412,306 (GRCm39)	V439E	possibly damaging	Het
Rasa2	G	A	9: 96,493,526 (GRCm39)	L53F	possibly damaging	Het
Rasgrf2	A	G	13: 92,165,583 (GRCm39)	F306L	probably damaging	Het
Rbm19	C	T	5: 120,271,075 (GRCm39)	R633C	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Shfl	AGAGGAGGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGAGGAGGA	9: 20,785,013 (GRCm39)		probably benign	Het
Slc4a4	T	A	5: 89,280,366 (GRCm39)	L353H	probably damaging	Het
Slc4a4	T	C	5: 89,373,807 (GRCm39)	V971A	probably damaging	Het
Stil	T	A	4: 114,871,266 (GRCm39)		probably benign	Het
Tjp3	T	C	10: 81,116,341 (GRCm39)	K251R	probably benign	Het
Ugt2b35	A	T	5: 87,149,457 (GRCm39)	Y236F	probably benign	Het
Utp14b	T	A	1: 78,642,442 (GRCm39)	D113E	possibly damaging	Het
Vmn1r121	G	A	7: 20,832,390 (GRCm39)	Q17*	probably null	Het
Vmn2r28	A	T	7: 5,484,391 (GRCm39)	L603Q	probably damaging	Het
Vps13b	A	G	15: 35,646,507 (GRCm39)	E1537G	probably damaging	Het
Xrcc4	T	C	13: 90,210,196 (GRCm39)	T83A	probably benign	Het
Yae1d1	T	C	13: 18,167,827 (GRCm39)	E22G	probably damaging	Het

Other mutations in Catsper3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Catsper3	APN	13	55,946,635 (GRCm39)	missense	possibly damaging	0.94
IGL01794:Catsper3	APN	13	55,946,719 (GRCm39)	missense	possibly damaging	0.84
IGL02419:Catsper3	APN	13	55,955,881 (GRCm39)	missense	possibly damaging	0.94
IGL03108:Catsper3	APN	13	55,955,848 (GRCm39)	missense	probably benign	0.01
R0241:Catsper3	UTSW	13	55,952,667 (GRCm39)	missense	probably damaging	1.00
R0241:Catsper3	UTSW	13	55,952,667 (GRCm39)	missense	probably damaging	1.00
R1870:Catsper3	UTSW	13	55,953,561 (GRCm39)	missense	probably damaging	1.00
R2229:Catsper3	UTSW	13	55,955,867 (GRCm39)	missense	probably damaging	1.00
R3056:Catsper3	UTSW	13	55,956,709 (GRCm39)	missense	unknown
R4092:Catsper3	UTSW	13	55,932,484 (GRCm39)	missense	probably benign	0.00
R4113:Catsper3	UTSW	13	55,934,183 (GRCm39)	missense	probably damaging	0.99
R5197:Catsper3	UTSW	13	55,955,989 (GRCm39)	critical splice donor site	probably null
R6011:Catsper3	UTSW	13	55,934,305 (GRCm39)	missense	probably damaging	0.96
R6064:Catsper3	UTSW	13	55,954,065 (GRCm39)	missense	probably damaging	0.99
R6385:Catsper3	UTSW	13	55,934,239 (GRCm39)	missense	probably damaging	0.99
R6966:Catsper3	UTSW	13	55,946,672 (GRCm39)	missense	probably damaging	0.98
R7128:Catsper3	UTSW	13	55,946,662 (GRCm39)	missense	probably benign	0.00
R7373:Catsper3	UTSW	13	55,955,945 (GRCm39)	missense	possibly damaging	0.87
R7565:Catsper3	UTSW	13	55,932,538 (GRCm39)	missense	probably benign	0.10
R8712:Catsper3	UTSW	13	55,953,657 (GRCm39)	missense	probably benign	0.20
R8879:Catsper3	UTSW	13	55,952,708 (GRCm39)	missense	probably benign	0.01
R9029:Catsper3	UTSW	13	55,954,147 (GRCm39)	missense	probably damaging	1.00
R9231:Catsper3	UTSW	13	55,946,705 (GRCm39)	missense	possibly damaging	0.78
R9397:Catsper3	UTSW	13	55,946,725 (GRCm39)	missense	probably damaging	0.99
R9570:Catsper3	UTSW	13	55,953,669 (GRCm39)	critical splice donor site	probably null
R9733:Catsper3	UTSW	13	55,946,752 (GRCm39)	missense	probably damaging	1.00
Z1088:Catsper3	UTSW	13	55,955,917 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGCTGCCTGAAGTATTCGTTC -3'
(R):5'- ACAGATGAGCACTTATCTAGGCC -3'

Sequencing Primer
(F):5'- CATACCTGTGGGAATGGCGAC -3'
(R):5'- AGATGAGCACTTATCTAGGCCTATCC -3'

Posted On

2015-02-05