Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01878:Trpv6'

178976

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trpv6

Ensembl Gene

ENSMUSG00000029868

Gene Name

transient receptor potential cation channel, subfamily V, member 6

Synonyms

Ecac2, CaT1, CAT, Cac

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

IGL01878

Quality Score

Status

Chromosome

Chromosomal Location

41597558-41613339 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 41603801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143854 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031902] [ENSMUST00000201471]

AlphaFold

Q91WD2

Predicted Effect

probably benign
Transcript: ENSMUST00000031902

SMART Domains

Protein: ENSMUSP00000031902
Gene: ENSMUSG00000029868

Domain	Start	End	E-Value	Type
ANK	44	74	2.39e2	SMART
ANK	78	107	6.17e-1	SMART
ANK	116	145	3.06e-5	SMART
ANK	162	191	1.85e-4	SMART
Blast:ANK	195	223	3e-10	BLAST
ANK	238	267	2.47e2	SMART
Pfam:Ion_trans	327	589	9.8e-18	PFAM
low complexity region	680	695	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194405

Predicted Effect

probably benign
Transcript: ENSMUST00000201471

SMART Domains

Protein: ENSMUSP00000143854
Gene: ENSMUSG00000029868

Domain	Start	End	E-Value	Type
ANK	44	74	2.39e2	SMART
ANK	78	107	6.17e-1	SMART
ANK	116	145	3.06e-5	SMART
ANK	162	191	1.85e-4	SMART
Blast:ANK	195	223	3e-10	BLAST
ANK	238	267	2.47e2	SMART
Pfam:Ion_trans	327	589	9.8e-18	PFAM
low complexity region	680	695	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of multipass membrane proteins that functions as calcium channels. The encoded protein contains N-terminal ankyrin repeats, which are required for channel assembly and regulation. Translation initiation for this protein occurs at a non-AUG start codon that is decoded as methionine. This gene is situated next to a closely related gene for transient receptor potential cation channel subfamily V member 5 (TRPV5). This locus has experienced positive selection in non-African populations, resulting in several non-synonymous codon differences among individuals of different genetic backgrounds. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit impaired sperm motility and decreased fertilization by sperm. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox8	G	T	11: 69,087,864 (GRCm39)	Q147K	probably benign	Het
Ankib1	T	A	5: 3,784,152 (GRCm39)	M275L	possibly damaging	Het
Asb2	G	A	12: 103,287,922 (GRCm39)	P546S	possibly damaging	Het
B9d1	T	C	11: 61,398,449 (GRCm39)		probably benign	Het
Col12a1	T	C	9: 79,557,257 (GRCm39)	D1957G	possibly damaging	Het
Cryzl2	T	C	1: 157,299,970 (GRCm39)	V44A	possibly damaging	Het
Fbxw19	A	C	9: 109,312,347 (GRCm39)		probably benign	Het
Gabrb3	T	C	7: 57,466,163 (GRCm39)	F326L	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm11168	T	C	9: 3,005,204 (GRCm39)	C16R	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm7808	T	A	9: 19,839,542 (GRCm39)		probably benign	Het
Gpam	T	C	19: 55,071,806 (GRCm39)	I312V	probably benign	Het
H2-M10.5	A	G	17: 37,084,708 (GRCm39)	Y144C	probably damaging	Het
Hivep3	T	C	4: 119,952,424 (GRCm39)	S247P	possibly damaging	Het
Hs3st4	T	G	7: 123,996,536 (GRCm39)	C401G	probably damaging	Het
Klhl2	A	G	8: 65,212,858 (GRCm39)	V227A	probably damaging	Het
Lct	T	C	1: 128,222,003 (GRCm39)	N1512S	probably damaging	Het
Lipm	T	A	19: 34,093,911 (GRCm39)	L276Q	possibly damaging	Het
Lmf2	T	A	15: 89,236,621 (GRCm39)	H515L	probably damaging	Het
Mccc1	G	A	3: 36,030,041 (GRCm39)	S423L	probably damaging	Het
Mettl21e	G	A	1: 44,250,193 (GRCm39)	S71L	probably null	Het
Muc16	T	A	9: 18,406,839 (GRCm39)	H251L	possibly damaging	Het
Neb	T	C	2: 52,059,852 (GRCm39)		probably benign	Het
Ntf5	T	C	7: 45,065,450 (GRCm39)	I194T	probably damaging	Het
Or10ag58	T	C	2: 87,265,314 (GRCm39)	I161T	possibly damaging	Het
Or1o4	A	G	17: 37,590,891 (GRCm39)	V140A	possibly damaging	Het
Or2w6	T	C	13: 21,842,953 (GRCm39)	D180G	possibly damaging	Het
Or4x11	T	C	2: 89,867,478 (GRCm39)	S72P	probably damaging	Het
Or9m1	A	T	2: 87,733,675 (GRCm39)	L115*	probably null	Het
Pigv	T	C	4: 133,392,428 (GRCm39)	I247M	probably benign	Het
Pik3r5	A	G	11: 68,383,356 (GRCm39)	N392D	probably benign	Het
Postn	A	G	3: 54,290,901 (GRCm39)		probably null	Het
Prl2c5	G	A	13: 13,360,402 (GRCm39)	S23N	probably benign	Het
Prpf40b	T	C	15: 99,204,413 (GRCm39)	C220R	possibly damaging	Het
Pzp	A	G	6: 128,472,261 (GRCm39)	S843P	probably damaging	Het
Rpl23	C	A	11: 97,669,177 (GRCm39)	R85L	probably benign	Het
Shcbp1	A	G	8: 4,799,721 (GRCm39)	S252P	probably damaging	Het
Slc26a7	C	T	4: 14,519,388 (GRCm39)		probably null	Het
Sptbn4	T	C	7: 27,063,571 (GRCm39)	E2285G	probably damaging	Het
Telo2	G	T	17: 25,320,332 (GRCm39)	T784K	probably benign	Het
Tnfrsf19	C	T	14: 61,234,093 (GRCm39)	V136M	probably damaging	Het
Trpm5	T	A	7: 142,628,234 (GRCm39)	I22F	probably damaging	Het
Vmn1r173	T	G	7: 23,401,877 (GRCm39)	H37Q	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Xpo6	T	A	7: 125,773,365 (GRCm39)	H20L	probably benign	Het
Zfp462	T	C	4: 55,010,613 (GRCm39)	Y860H	probably damaging	Het

Other mutations in Trpv6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02033:Trpv6	APN	6	41,604,551 (GRCm39)	splice site	probably benign
IGL02439:Trpv6	APN	6	41,602,421 (GRCm39)	missense	probably damaging	1.00
R0973:Trpv6	UTSW	6	41,602,122 (GRCm39)	missense	probably benign	0.01
R0973:Trpv6	UTSW	6	41,602,122 (GRCm39)	missense	probably benign	0.01
R0974:Trpv6	UTSW	6	41,602,122 (GRCm39)	missense	probably benign	0.01
R1385:Trpv6	UTSW	6	41,598,063 (GRCm39)	missense	probably benign	0.32
R1696:Trpv6	UTSW	6	41,598,702 (GRCm39)	missense	possibly damaging	0.95
R2095:Trpv6	UTSW	6	41,598,690 (GRCm39)	missense	probably damaging	0.99
R2287:Trpv6	UTSW	6	41,603,045 (GRCm39)	missense	probably damaging	1.00
R2298:Trpv6	UTSW	6	41,613,010 (GRCm39)	missense	possibly damaging	0.62
R2519:Trpv6	UTSW	6	41,601,550 (GRCm39)	nonsense	probably null
R3522:Trpv6	UTSW	6	41,604,339 (GRCm39)	missense	probably damaging	0.99
R4172:Trpv6	UTSW	6	41,602,432 (GRCm39)	missense	probably damaging	1.00
R4397:Trpv6	UTSW	6	41,602,172 (GRCm39)	missense	possibly damaging	0.82
R4568:Trpv6	UTSW	6	41,603,503 (GRCm39)	missense	probably damaging	1.00
R4571:Trpv6	UTSW	6	41,598,678 (GRCm39)	missense	probably damaging	1.00
R5547:Trpv6	UTSW	6	41,613,088 (GRCm39)	missense	possibly damaging	0.68
R6344:Trpv6	UTSW	6	41,602,356 (GRCm39)	splice site	probably null
R6989:Trpv6	UTSW	6	41,602,390 (GRCm39)	missense	probably damaging	1.00
R7427:Trpv6	UTSW	6	41,602,087 (GRCm39)	missense	probably benign
R7445:Trpv6	UTSW	6	41,598,276 (GRCm39)	missense	probably damaging	1.00
R7538:Trpv6	UTSW	6	41,603,101 (GRCm39)	missense	probably benign	0.01
R7960:Trpv6	UTSW	6	41,604,612 (GRCm39)	missense	probably benign	0.00
R8059:Trpv6	UTSW	6	41,601,520 (GRCm39)	missense	probably benign	0.00
R9159:Trpv6	UTSW	6	41,603,074 (GRCm39)	missense	probably benign
R9307:Trpv6	UTSW	6	41,602,378 (GRCm39)	missense	probably benign	0.31
R9635:Trpv6	UTSW	6	41,599,901 (GRCm39)	missense	possibly damaging	0.90
R9732:Trpv6	UTSW	6	41,603,862 (GRCm39)	nonsense	probably null
R9745:Trpv6	UTSW	6	41,600,003 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07