Mutagenetix > Incidental Mutation

Incidental Mutation 'R6960:Catsper4'

541700

Institutional Source

Beutler Lab

Gene Symbol

Catsper4

Ensembl Gene

ENSMUSG00000048003

Gene Name

cation channel, sperm associated 4

Synonyms

MMRRC Submission

045070-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6960 (G1)

Quality Score

207.009

Status

Validated

Chromosome

Chromosomal Location

133939281-133954694 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 133954648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1 (M1L)

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 benign
Transcript: ENSMUST00000055892
AA Change: M1L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000051694
Gene: ENSMUSG00000048003
AA Change: M1L

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 benign
Transcript: ENSMUST00000105878
AA Change: M1L

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101504
Gene: ENSMUSG00000048003
AA Change: M1L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000169381
AA Change: M1L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000131094
Gene: ENSMUSG00000048003
AA Change: M1L

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

0.4202

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

98% (50/51)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,072,924 (GRCm39)	D1170G	probably benign	Het
Ak7	A	T	12: 105,676,503 (GRCm39)	T68S	probably benign	Het
Arhgap12	A	T	18: 6,111,901 (GRCm39)	N26K	probably damaging	Het
B3galt1	A	T	2: 67,949,033 (GRCm39)	E249D	probably damaging	Het
Cc2d2b	T	C	19: 40,773,506 (GRCm39)	V523A	possibly damaging	Het
Ccn4	C	T	15: 66,791,047 (GRCm39)	T283M	probably benign	Het
Cyp11a1	T	C	9: 57,925,659 (GRCm39)	F98S	probably damaging	Het
Cyp2d26	T	C	15: 82,674,446 (GRCm39)	S479G	probably damaging	Het
Dclre1a	T	G	19: 56,531,141 (GRCm39)	Y735S	probably damaging	Het
Dio2	C	T	12: 90,696,671 (GRCm39)	G106R	probably damaging	Het
Efcab12	T	C	6: 115,815,273 (GRCm39)		probably benign	Het
Ehhadh	C	A	16: 21,581,028 (GRCm39)	V655L	probably benign	Het
Ercc2	G	A	7: 19,127,615 (GRCm39)	R379Q	probably damaging	Het
Fabp4	A	G	3: 10,273,537 (GRCm39)	V12A	probably benign	Het
Fbn1	T	C	2: 125,223,980 (GRCm39)	I590V	probably benign	Het
Grm8	C	A	6: 27,981,281 (GRCm39)	V210L	probably damaging	Het
Jakmip3	A	G	7: 138,625,065 (GRCm39)	D359G	probably damaging	Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Ly75	A	T	2: 60,136,749 (GRCm39)	Y1493N	probably benign	Het
Lyst	A	G	13: 13,808,663 (GRCm39)	N111S	probably benign	Het
Lyz2	G	C	10: 117,114,607 (GRCm39)	I107M	possibly damaging	Het
Mgat5	A	T	1: 127,248,371 (GRCm39)	D91V	possibly damaging	Het
Mical3	T	A	6: 120,935,504 (GRCm39)	D1674V	probably damaging	Het
Myom2	G	A	8: 15,167,741 (GRCm39)	A1109T	probably null	Het
Naa16	A	G	14: 79,596,911 (GRCm39)	Y358H	possibly damaging	Het
Nktr	T	A	9: 121,571,758 (GRCm39)	H226Q	probably damaging	Het
Ocln	T	G	13: 100,635,380 (GRCm39)	K503T	possibly damaging	Het
Olfm4	T	C	14: 80,258,754 (GRCm39)	L301S	probably damaging	Het
Or4f4b	G	A	2: 111,314,071 (GRCm39)	V127I	possibly damaging	Het
Or6c74	T	C	10: 129,869,972 (GRCm39)	L159P	probably benign	Het
Paqr4	G	A	17: 23,956,697 (GRCm39)	A222V	probably benign	Het
Pcdhb13	A	G	18: 37,576,509 (GRCm39)	T296A	probably benign	Het
Phka2	G	A	X: 159,316,044 (GRCm39)	V230I	probably damaging	Het
Pigg	T	C	5: 108,474,707 (GRCm39)	V309A	probably damaging	Het
Ptger4	T	C	15: 5,264,196 (GRCm39)	R462G	probably benign	Het
Ptprc	C	T	1: 138,006,183 (GRCm39)		probably null	Het
Rabggta	A	C	14: 55,959,299 (GRCm39)		probably null	Het
Rnf25	A	G	1: 74,634,403 (GRCm39)	S207P	possibly damaging	Het
Rsf1	G	GACGGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Rtf1	A	G	2: 119,541,559 (GRCm39)	Q264R	probably damaging	Het
Ryr2	A	G	13: 11,816,129 (GRCm39)	V619A	probably benign	Het
Serpinb6d	A	G	13: 33,855,181 (GRCm39)	N285S	probably benign	Het
Slamf6	A	G	1: 171,745,320 (GRCm39)	M16V	probably damaging	Het
Slc22a23	A	G	13: 34,528,140 (GRCm39)		probably null	Het
Slc23a2	T	C	2: 131,933,173 (GRCm39)	D95G	probably damaging	Het
Smc3	T	C	19: 53,617,802 (GRCm39)	Y600H	probably damaging	Het
Tarbp1	G	A	8: 127,155,778 (GRCm39)	T1320M	possibly damaging	Het
Tigd4	A	T	3: 84,501,423 (GRCm39)	K113N	probably damaging	Het
Tjp1	A	T	7: 64,952,763 (GRCm39)	F1444I	possibly damaging	Het
Tstd3	A	T	4: 21,767,118 (GRCm39)	M1K	probably null	Het
Zbtb46	T	C	2: 181,065,217 (GRCm39)	D311G	probably 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
R2087:Catsper4	UTSW	4	133,953,916 (GRCm39)	missense	probably damaging	1.00
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
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'- CTGCGGTTGATGAGCACTTG -3'
(R):5'- GCCCTTGGCTGAATACTTGG -3'

Sequencing Primer
(F):5'- ATGCCGACCCAGGAGTTCATAG -3'
(R):5'- AAGGACTGCTCGTAGCAA -3'

Posted On

2018-11-28