Mutagenetix > Incidental Mutation

Incidental Mutation 'R2087:Catsper4'

231509

Institutional Source

Beutler Lab

Gene Symbol

Catsper4

Ensembl Gene

ENSMUSG00000048003

Gene Name

cation channel, sperm associated 4

Synonyms

MMRRC Submission

040092-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2087 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133939281-133954694 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133953916 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 81 (N81S)

Ref Sequence

ENSEMBL: ENSMUSP00000101504 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030645] [ENSMUST00000055892] [ENSMUST00000105878] [ENSMUST00000169381]

AlphaFold

Q8BVN3

Predicted Effect

probably benign
Transcript: ENSMUST00000030645

SMART Domains

Protein: ENSMUSP00000030645
Gene: ENSMUSG00000028841

Domain	Start	End	E-Value	Type
SAM	4	70	1.44e-9	SMART
Pfam:CRIC_ras_sig	78	162	4.2e-26	PFAM
PDZ	206	276	1.48e-3	SMART
low complexity region	285	303	N/A	INTRINSIC
low complexity region	333	347	N/A	INTRINSIC
PH	388	488	4.38e-19	SMART
coiled coil region	596	624	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000055892
AA Change: N81S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000051694
Gene: ENSMUSG00000048003
AA Change: N81S

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	67	294	6.9e-34	PFAM
Pfam:PKD_channel	149	289	8.1e-8	PFAM
low complexity region	304	315	N/A	INTRINSIC
coiled coil region	353	383	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105878
AA Change: N81S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101504
Gene: ENSMUSG00000048003
AA Change: N81S

Domain	Start	End	E-Value	Type
transmembrane domain	64	86	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130984

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144504

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145998

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146283

Predicted Effect

probably damaging
Transcript: ENSMUST00000169381
AA Change: N81S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000131094
Gene: ENSMUSG00000048003
AA Change: N81S

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	56	209	2.4e-11	PFAM
low complexity region	231	242	N/A	INTRINSIC
coiled coil region	280	310	N/A	INTRINSIC

Meta Mutation Damage Score

0.6963

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

95% (57/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021P04Rik	T	A	19: 24,042,364 (GRCm39)		noncoding transcript	Het
Adamts8	G	A	9: 30,873,408 (GRCm39)	R871Q	probably damaging	Het
Ank1	T	C	8: 23,583,827 (GRCm39)	L310S	probably damaging	Het
Atp2a3	A	G	11: 72,871,274 (GRCm39)	T592A	probably damaging	Het
Bpifb6	A	G	2: 153,747,998 (GRCm39)	D219G	possibly damaging	Het
Ccdc14	T	C	16: 34,516,015 (GRCm39)		probably null	Het
Ces1c	A	C	8: 93,834,230 (GRCm39)	N353K	probably benign	Het
Chrna6	T	A	8: 27,897,155 (GRCm39)	M241L	probably benign	Het
Chtf8	T	A	8: 107,612,568 (GRCm39)	R124*	probably null	Het
Cpt1b	A	G	15: 89,306,411 (GRCm39)	V296A	probably benign	Het
Cryl1	G	A	14: 57,513,402 (GRCm39)	S273L	possibly damaging	Het
Ctps1	T	C	4: 120,420,012 (GRCm39)	D134G	probably benign	Het
Cyp4f18	T	C	8: 72,754,832 (GRCm39)	M138V	probably benign	Het
Dnajb12	A	G	10: 59,726,667 (GRCm39)	K107R	possibly damaging	Het
Epha1	C	T	6: 42,340,502 (GRCm39)	D590N	probably benign	Het
Fndc3b	A	G	3: 27,505,703 (GRCm39)	V855A	probably benign	Het
Ganc	A	G	2: 120,287,738 (GRCm39)	Y822C	probably damaging	Het
Hook2	A	G	8: 85,729,320 (GRCm39)	D622G	probably damaging	Het
Kcnj8	T	A	6: 142,511,422 (GRCm39)	N395I	probably benign	Het
Kdm4b	T	C	17: 56,696,564 (GRCm39)	S427P	possibly damaging	Het
Krt12	A	G	11: 99,309,459 (GRCm39)	F267S	probably damaging	Het
Lrrn2	T	G	1: 132,865,489 (GRCm39)	F185V	probably damaging	Het
Mecom	A	G	3: 30,006,963 (GRCm39)	S764P	probably benign	Het
Mfsd14b	C	G	13: 65,215,796 (GRCm39)	G386R	probably damaging	Het
Mrm2	A	G	5: 140,314,155 (GRCm39)	S227P	probably damaging	Het
Mug1	A	G	6: 121,833,250 (GRCm39)	N285S	probably benign	Het
Nalcn	T	C	14: 123,518,557 (GRCm39)	T1661A	probably benign	Het
Ncoa6	G	A	2: 155,248,079 (GRCm39)	R1742*	probably null	Het
Nln	T	A	13: 104,173,877 (GRCm39)	H548L	probably damaging	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Or2r3	A	T	6: 42,448,985 (GRCm39)	N42K	probably damaging	Het
Or56b34	T	A	7: 104,937,393 (GRCm39)	I31N	probably benign	Het
Pgm5	T	C	19: 24,710,927 (GRCm39)	Y425C	probably damaging	Het
Pld2	A	G	11: 70,433,786 (GRCm39)	D242G	probably damaging	Het
Plekhm1	A	G	11: 103,287,851 (GRCm39)		probably null	Het
Ptdss1	T	C	13: 67,124,881 (GRCm39)		probably benign	Het
Pyroxd2	G	T	19: 42,722,209 (GRCm39)	L415I	probably benign	Het
Rapgef6	A	G	11: 54,522,075 (GRCm39)	T291A	probably damaging	Het
Rb1	A	G	14: 73,517,692 (GRCm39)	I238T	probably benign	Het
Rp1	G	A	1: 4,418,575 (GRCm39)	H846Y	probably damaging	Het
Rpgrip1	T	A	14: 52,374,079 (GRCm39)		probably null	Het
Scaf4	T	C	16: 90,049,313 (GRCm39)	D258G	unknown	Het
Ska1	A	T	18: 74,339,920 (GRCm39)	C9S	probably benign	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Slc43a1	G	A	2: 84,680,175 (GRCm39)	R107Q	probably damaging	Het
Slc44a3	T	A	3: 121,319,319 (GRCm39)	N141Y	probably damaging	Het
Slit1	A	T	19: 41,625,922 (GRCm39)	D613E	probably benign	Het
Spata22	A	T	11: 73,231,079 (GRCm39)	Y111F	probably benign	Het
Tchh	C	A	3: 93,351,225 (GRCm39)	R222S	unknown	Het
Tekt3	A	G	11: 62,985,523 (GRCm39)	D443G	possibly damaging	Het
Tns2	A	T	15: 102,015,554 (GRCm39)	Q144L	possibly damaging	Het
Troap	T	C	15: 98,976,698 (GRCm39)	V274A	possibly damaging	Het
Ugt1a8	A	G	1: 88,015,995 (GRCm39)	Y136C	probably damaging	Het
Vmn2r23	A	T	6: 123,718,458 (GRCm39)	M604L	probably benign	Het
Vps13b	T	A	15: 35,597,639 (GRCm39)	W1060R	probably damaging	Het
Wdfy3	A	G	5: 102,042,926 (GRCm39)	S1942P	probably damaging	Het
Wdr90	G	A	17: 26,065,577 (GRCm39)	T1596I	probably damaging	Het
Zc3h4	A	G	7: 16,150,865 (GRCm39)	E69G	possibly damaging	Het

Other mutations in Catsper4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02178:Catsper4	APN	4	133,954,637 (GRCm39)	missense	probably benign	0.04
IGL03375:Catsper4	APN	4	133,945,519 (GRCm39)	missense	probably damaging	1.00
R1757:Catsper4	UTSW	4	133,945,212 (GRCm39)	missense	probably benign	0.12
R2113:Catsper4	UTSW	4	133,945,552 (GRCm39)	missense	probably damaging	1.00
R2127:Catsper4	UTSW	4	133,941,117 (GRCm39)	missense	probably benign	0.00
R4679:Catsper4	UTSW	4	133,953,916 (GRCm39)	missense	probably damaging	1.00
R5116:Catsper4	UTSW	4	133,953,991 (GRCm39)	missense	probably damaging	1.00
R6139:Catsper4	UTSW	4	133,945,177 (GRCm39)	missense	probably damaging	1.00
R6148:Catsper4	UTSW	4	133,945,240 (GRCm39)	missense	probably damaging	1.00
R6236:Catsper4	UTSW	4	133,948,887 (GRCm39)	missense	probably benign	0.42
R6885:Catsper4	UTSW	4	133,942,460 (GRCm39)	missense	probably benign	0.00
R6949:Catsper4	UTSW	4	133,953,058 (GRCm39)	missense	probably benign	0.00
R6960:Catsper4	UTSW	4	133,954,648 (GRCm39)	start codon destroyed	probably benign	0.14
R7235:Catsper4	UTSW	4	133,939,892 (GRCm39)	splice site	probably null
R7261:Catsper4	UTSW	4	133,954,423 (GRCm39)	frame shift	probably null
R7263:Catsper4	UTSW	4	133,954,423 (GRCm39)	frame shift	probably null
R7264:Catsper4	UTSW	4	133,954,423 (GRCm39)	frame shift	probably null
R7483:Catsper4	UTSW	4	133,945,552 (GRCm39)	missense	probably damaging	1.00
R8868:Catsper4	UTSW	4	133,954,417 (GRCm39)	critical splice donor site	probably null
R9235:Catsper4	UTSW	4	133,954,606 (GRCm39)	missense	probably benign
X0025:Catsper4	UTSW	4	133,942,556 (GRCm39)	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- TCATAGGTTTGCTGCACCAG -3'
(R):5'- AGAGGAGTTGAACTGTCCTGGC -3'

Sequencing Primer
(F):5'- TTGCTGCACCAGGTCTG -3'
(R):5'- TTGAACTGTCCTGGCAGAGGC -3'

Posted On

2014-09-18