Mutagenetix > Incidental Mutations

Incidental Mutation 'R7128:Catsper3'

552482

Institutional Source

Beutler Lab

Gene Symbol

Catsper3

Ensembl Gene

ENSMUSG00000021499

Gene Name

cation channel, sperm associated 3

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7128 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55784568-55808998 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55798849 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 120 (I120V)

Ref Sequence

ENSEMBL: ENSMUSP00000021961 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000021961
AA Change: I120V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000021961
Gene: ENSMUSG00000021499
AA Change: I120V

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

probably benign
Transcript: ENSMUST00000109898
AA Change: I107V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000105524
Gene: ENSMUSG00000021499
AA Change: I107V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	T	C	19: 29,716,481	T1871A	possibly damaging	Het
Adgb	T	C	10: 10,472,241	D25G	probably benign	Het
Ak9	T	C	10: 41,424,717	V1641A	unknown	Het
Akap2	T	C	4: 57,855,816	S382P	probably benign	Het
Akirin2	T	C	4: 34,562,435	I118T	probably benign	Het
Aldh1l1	G	T	6: 90,563,379	Q215H	probably benign	Het
Arhgef26	T	C	3: 62,419,550	F495L	possibly damaging	Het
Atg4a-ps	T	A	3: 103,645,747	R93*	probably null	Het
AW822073	T	C	10: 58,223,657	Q425R	unknown	Het
Cavin2	A	G	1: 51,289,420	Q12R	possibly damaging	Het
Cenpf	A	T	1: 189,684,991	F39Y	probably damaging	Het
Chfr	T	C	5: 110,143,636	Y107H	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Defb4	T	A	8: 19,201,204	I29K	possibly damaging	Het
Dnah7c	A	G	1: 46,527,485	T619A	probably benign	Het
Emc3	A	G	6: 113,517,920	L179P	probably damaging	Het
Eno3	G	C	11: 70,658,604	V84L	possibly damaging	Het
Fam110a	C	T	2: 151,970,722	V43M	probably damaging	Het
Fam159a	G	T	4: 108,367,903	T154K	probably benign	Het
Fbxo30	T	A	10: 11,290,116	L194*	probably null	Het
Galnt14	T	C	17: 73,545,101	T108A	probably benign	Het
Glipr2	T	C	4: 43,968,601	I51T	probably benign	Het
Gm1527	C	T	3: 28,915,311	S270F	possibly damaging	Het
Gm3336	A	G	8: 70,718,554	M1V	probably null	Het
Gm4744	T	C	6: 40,950,376	D15G		Het
Gm4763	C	T	7: 24,725,999		probably null	Het
Gm4924	G	A	10: 82,378,699	C777Y	unknown	Het
Gm5901	G	A	7: 105,378,201	G306S	probably damaging	Het
Gon4l	T	A	3: 88,895,692	N1203K	possibly damaging	Het
Gpr161	A	T	1: 165,310,457	Y204F	possibly damaging	Het
Igsf10	T	C	3: 59,328,905	E1285G	probably benign	Het
Irx6	T	C	8: 92,677,366	L187P	probably damaging	Het
Itgb1bp1	A	G	12: 21,272,088	Y117H	probably benign	Het
Itln1	C	A	1: 171,530,575	D202Y	possibly damaging	Het
Kctd9	T	C	14: 67,738,523	S242P	probably benign	Het
Lrrk2	A	G	15: 91,801,885	H2143R	probably benign	Het
Lynx1	G	A	15: 74,751,549	R50*	probably null	Het
Map10	A	G	8: 125,671,853	I662V	probably benign	Het
Mlxipl	T	C	5: 135,133,851	L691P	probably damaging	Het
Muc16	A	G	9: 18,643,004	S3998P	unknown	Het
Nalcn	A	T	14: 123,594,502	V120E	probably damaging	Het
Nfat5	T	C	8: 107,358,691	S539P	probably benign	Het
Olfml3	T	C	3: 103,737,168	M62V	probably benign	Het
Orm3	T	C	4: 63,357,825	V158A	probably benign	Het
Pced1b	A	T	15: 97,384,598	K173*	probably null	Het
Pdzd7	T	C	19: 45,027,949	D911G	probably damaging	Het
Pkn3	A	G	2: 30,083,315	D383G	probably damaging	Het
Pm20d1	A	G	1: 131,797,554	E46G	probably benign	Het
Pyroxd2	A	T	19: 42,731,403	S455T	probably benign	Het
Rmnd5b	T	A	11: 51,624,537	I301F	possibly damaging	Het
Rnf225	A	G	7: 12,927,984	N30S	probably benign	Het
Slfn3	T	A	11: 83,214,895	C573S	probably benign	Het
Smc6	A	G	12: 11,301,631	E887G	probably damaging	Het
Sp140	A	T	1: 85,620,125	D191V	possibly damaging	Het
Srf	C	T	17: 46,555,446	S128N	possibly damaging	Het
Sult6b1	T	C	17: 78,894,641	D144G	probably damaging	Het
Syne1	G	A	10: 5,243,180	A3956V	probably damaging	Het
Syt10	A	T	15: 89,814,111	D343E	probably damaging	Het
Tgtp2	G	A	11: 49,059,308	R146C	possibly damaging	Het
Tmcc3	A	T	10: 94,430,634		probably benign	Het
Tnfrsf1a	A	T	6: 125,361,536	T337S	probably benign	Het
Tns1	A	T	1: 73,995,304	I144N		Het
Trim11	A	G	11: 58,978,277	E13G	probably damaging	Het
Trpm6	A	T	19: 18,811,773	H569L	possibly damaging	Het
Ttbk2	T	A	2: 120,746,088	I803L	probably benign	Het
Vmn1r21	G	T	6: 57,843,951	N169K	probably damaging	Het
Vmn2r60	C	T	7: 42,195,112	T633I	probably damaging	Het
Wt1	T	C	2: 105,127,325	Y177H	probably benign	Het

Other mutations in Catsper3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Catsper3	APN	13	55798822	missense	possibly damaging	0.94
IGL01794:Catsper3	APN	13	55798906	missense	possibly damaging	0.84
IGL02419:Catsper3	APN	13	55808068	missense	possibly damaging	0.94
IGL03108:Catsper3	APN	13	55808035	missense	probably benign	0.01
R0241:Catsper3	UTSW	13	55804854	missense	probably damaging	1.00
R0241:Catsper3	UTSW	13	55804854	missense	probably damaging	1.00
R1870:Catsper3	UTSW	13	55805748	missense	probably damaging	1.00
R2229:Catsper3	UTSW	13	55808054	missense	probably damaging	1.00
R3055:Catsper3	UTSW	13	55808896	missense	unknown
R3056:Catsper3	UTSW	13	55808896	missense	unknown
R4092:Catsper3	UTSW	13	55784671	missense	probably benign	0.00
R4113:Catsper3	UTSW	13	55786370	missense	probably damaging	0.99
R5197:Catsper3	UTSW	13	55808176	critical splice donor site	probably null
R6011:Catsper3	UTSW	13	55786492	missense	probably damaging	0.96
R6064:Catsper3	UTSW	13	55806252	missense	probably damaging	0.99
R6385:Catsper3	UTSW	13	55786426	missense	probably damaging	0.99
R6966:Catsper3	UTSW	13	55798859	missense	probably damaging	0.98
R7373:Catsper3	UTSW	13	55808132	missense	possibly damaging	0.87
R7565:Catsper3	UTSW	13	55784725	missense	probably benign	0.10
Z1088:Catsper3	UTSW	13	55808104	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGATAGGGTGGTCTCAGCAG -3'
(R):5'- TCGGTCAAGTTTAACTGGCCAC -3'

Sequencing Primer
(F):5'- TGGTCTCAGCAGGGAGAG -3'
(R):5'- AGTCATTATTTCTTAGAAAGCCTCCC -3'

Posted On

2019-05-15