Mutagenetix > Incidental Mutation

Incidental Mutation 'R4571:Trpv6'

342135

Institutional Source

Beutler Lab

Gene Symbol

Trpv6

Ensembl Gene

ENSMUSG00000029868

Gene Name

transient receptor potential cation channel, subfamily V, member 6

Synonyms

Ecac2, CaT1, CAT, Cac

MMRRC Submission

041795-MU

Accession Numbers

Essential gene?

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

Stock #

R4571 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41597558-41613339 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 41598678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 649 (R649H)

Ref Sequence

ENSEMBL: ENSMUSP00000143854 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031902] [ENSMUST00000114732] [ENSMUST00000201471]

AlphaFold

Q91WD2

Predicted Effect

probably damaging
Transcript: ENSMUST00000031902
AA Change: R649H

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

SMART Domains

Protein: ENSMUSP00000031902
Gene: ENSMUSG00000029868
AA Change: R649H

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

probably benign
Transcript: ENSMUST00000114732

SMART Domains

Protein: ENSMUSP00000110380
Gene: ENSMUSG00000029869

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
EPH_lbd	34	227	2.18e-100	SMART
low complexity region	242	255	N/A	INTRINSIC
Pfam:GCC2_GCC3	299	341	1.9e-9	PFAM
FN3	365	462	3.59e-3	SMART
FN3	481	562	3.73e-10	SMART
Pfam:EphA2_TM	589	660	3.4e-16	PFAM
Pfam:Pkinase	663	908	1.4e-29	PFAM
Pfam:Pkinase_Tyr	663	908	1.1e-67	PFAM
SAM	938	1005	1e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167082

Predicted Effect

probably benign
Transcript: ENSMUST00000167497

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194405

Predicted Effect

probably damaging
Transcript: ENSMUST00000201471
AA Change: R649H

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

SMART Domains

Protein: ENSMUSP00000143854
Gene: ENSMUSG00000029868
AA Change: R649H

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

Meta Mutation Damage Score

0.2839

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (69/69)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,920,884 (GRCm39)	C1497S	probably damaging	Het
Acoxl	G	T	2: 127,719,727 (GRCm39)	G163W	probably damaging	Het
Apbb1	T	A	7: 105,222,969 (GRCm39)	N214I	probably damaging	Het
Apol7b	T	C	15: 77,307,734 (GRCm39)	K254E	probably benign	Het
Arl4d	T	A	11: 101,557,969 (GRCm39)	V165E	possibly damaging	Het
Brca1	C	A	11: 101,408,192 (GRCm39)	R1377L	probably benign	Het
Btf3	A	G	13: 98,449,792 (GRCm39)	F65L	probably benign	Het
C2	T	C	17: 35,082,635 (GRCm39)	N495D	probably benign	Het
Cacna1c	T	C	6: 118,607,341 (GRCm39)	T1188A	probably benign	Het
Chd7	C	A	4: 8,866,217 (GRCm39)	D796E	probably benign	Het
Clasp2	G	T	9: 113,676,789 (GRCm39)	L173F	probably damaging	Het
Clec4g	A	T	8: 3,768,766 (GRCm39)		probably null	Het
Col9a3	T	C	2: 180,258,159 (GRCm39)		probably benign	Het
Csmd2	T	A	4: 128,373,888 (GRCm39)		probably null	Het
Ddx11	T	C	17: 66,437,768 (GRCm39)	C165R	probably benign	Het
Dnah7c	A	C	1: 46,572,376 (GRCm39)	M950L	probably damaging	Het
Dusp23	A	C	1: 172,460,181 (GRCm39)		probably null	Het
Ebag9	A	T	15: 44,500,158 (GRCm39)		probably null	Het
Edn3	G	A	2: 174,623,697 (GRCm39)	A211T	probably benign	Het
Eif3e	G	A	15: 43,129,558 (GRCm39)	T190I	possibly damaging	Het
Fam76a	T	C	4: 132,648,208 (GRCm39)	H3R	possibly damaging	Het
Gabbr1	G	T	17: 37,365,128 (GRCm39)	E138*	probably null	Het
Galc	T	C	12: 98,188,876 (GRCm39)	T412A	probably benign	Het
Gimap3	T	C	6: 48,742,654 (GRCm39)	D92G	possibly damaging	Het
Gin1	T	C	1: 97,712,801 (GRCm39)	Y285H	probably damaging	Het
Gm4868	A	G	5: 125,925,782 (GRCm39)		noncoding transcript	Het
Gm7052	T	A	17: 22,259,405 (GRCm39)		probably benign	Het
Gpcpd1	T	A	2: 132,392,270 (GRCm39)	E226D	probably benign	Het
Hoxb4	T	C	11: 96,209,992 (GRCm39)	S133P	possibly damaging	Het
Hrg	C	T	16: 22,779,972 (GRCm39)		probably benign	Het
Insrr	A	G	3: 87,708,194 (GRCm39)	K212R	probably benign	Het
Ipp	A	G	4: 116,387,655 (GRCm39)	D411G	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnq3	A	G	15: 65,902,461 (GRCm39)	F172L	probably damaging	Het
Kdm5d	T	C	Y: 927,110 (GRCm39)	F616S	probably damaging	Het
Lars1	T	C	18: 42,361,295 (GRCm39)		probably null	Het
Lmo7	G	T	14: 102,125,030 (GRCm39)	Q496H	probably damaging	Het
Map3k9	C	A	12: 81,780,865 (GRCm39)	A432S	probably benign	Het
Nop2	T	G	6: 125,117,844 (GRCm39)		probably null	Het
Nup50l	T	A	6: 96,141,862 (GRCm39)	N394I	probably damaging	Het
Or10ag53	C	A	2: 87,082,802 (GRCm39)	Q174K	possibly damaging	Het
Or2h2	T	C	17: 37,396,471 (GRCm39)	I195M	probably damaging	Het
Or5m11b	A	T	2: 85,806,175 (GRCm39)	E196V	probably damaging	Het
Or6k2	A	T	1: 173,986,494 (GRCm39)	N52Y	possibly damaging	Het
Pan2	A	G	10: 128,144,512 (GRCm39)	T187A	probably benign	Het
Pcmtd2	A	G	2: 181,484,217 (GRCm39)	E9G	possibly damaging	Het
Pik3cb	T	A	9: 98,972,310 (GRCm39)	I283F	possibly damaging	Het
Pkhd1	G	A	1: 20,683,633 (GRCm39)	T40I	probably damaging	Het
Plxna2	T	C	1: 194,493,296 (GRCm39)	V1857A	possibly damaging	Het
Polg	T	C	7: 79,110,127 (GRCm39)	S334G	probably damaging	Het
Rem2	T	C	14: 54,715,116 (GRCm39)	S98P	probably damaging	Het
Rpl5-ps2	G	T	2: 154,546,156 (GRCm39)		noncoding transcript	Het
Slc6a18	A	T	13: 73,814,489 (GRCm39)	N468K	possibly damaging	Het
Slco4a1	A	T	2: 180,106,171 (GRCm39)	T118S	probably benign	Het
Smg1	A	T	7: 117,738,688 (GRCm39)	N3520K	possibly damaging	Het
Tapbp	C	A	17: 34,145,427 (GRCm39)	D415E	probably damaging	Het
Topaz1	A	G	9: 122,576,501 (GRCm39)	T31A	probably benign	Het
Vmn1r188	A	G	13: 22,272,688 (GRCm39)	Y214C	probably benign	Het
Vps8	T	A	16: 21,254,525 (GRCm39)	I59N	probably damaging	Het
Wnt9a	T	C	11: 59,222,163 (GRCm39)	C354R	probably damaging	Het
Zcchc2	A	G	1: 105,958,987 (GRCm39)	T1153A	possibly damaging	Het
Zfp30	A	G	7: 29,492,627 (GRCm39)	R294G	probably damaging	Het
Zfp558	A	T	9: 18,367,799 (GRCm39)	C330S	possibly damaging	Het
Zfp62	A	C	11: 49,106,568 (GRCm39)	S220R	probably damaging	Het
Zfp62	G	T	11: 49,106,569 (GRCm39)	S220I	probably damaging	Het
Zp3r	A	G	1: 130,505,757 (GRCm39)	S423P	probably damaging	Het

Other mutations in Trpv6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01878:Trpv6	APN	6	41,603,801 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- ATGATGCTTAGGGGCCCAAG -3'
(R):5'- GGCTTGTTTCCATTTCTAGAAAGCC -3'

Sequencing Primer
(F):5'- AGCTCAAAACTGAGTCTTGTCC -3'
(R):5'- AGCCACAAGTCCCTGAGTTTC -3'

Posted On

2015-09-24