Mutagenetix > Incidental Mutation

Incidental Mutation 'R4397:Trpv6'

325534

Institutional Source

Beutler Lab

Gene Symbol

Trpv6

Ensembl Gene

ENSMUSG00000029868

Gene Name

transient receptor potential cation channel, subfamily V, member 6

Synonyms

CAT, Ecac2, CaT1, Cac

MMRRC Submission

041685-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R4397 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41620624-41636405 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41625238 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 379 (I379T)

Ref Sequence

ENSEMBL: ENSMUSP00000031902 (fasta)

Gene Model

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

AlphaFold

Q91WD2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031902
AA Change: I379T

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031902
Gene: ENSMUSG00000029868
AA Change: I379T

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: ENSMUST00000167497

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194405

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201471
AA Change: I379T

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143854
Gene: ENSMUSG00000029868
AA Change: I379T

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

0.0861

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

96% (55/57)

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
Adgrg4	T	G	X: 56,932,343	L2193V	probably damaging	Het
Agap2	G	A	10: 127,090,483	A866T	unknown	Het
Aig1	A	C	10: 13,652,982	S237A	probably benign	Het
Baz1b	C	T	5: 135,244,446	R1475W	probably damaging	Het
Bmp1	C	T	14: 70,490,542		probably null	Het
Crybg3	A	G	16: 59,560,095		probably benign	Het
Dnajc15	T	C	14: 77,874,794		probably null	Het
Fam135b	T	A	15: 71,448,676	H1334L	probably benign	Het
Fancg	A	T	4: 43,008,897	H113Q	probably benign	Het
Gfap	G	A	11: 102,896,984	A45V	probably benign	Het
Gjd3	A	T	11: 98,982,421	L199Q	probably damaging	Het
Gm8979	A	G	7: 106,082,923		noncoding transcript	Het
H13	A	G	2: 152,677,552	D65G	probably damaging	Het
Hcls1	T	C	16: 36,937,300	V5A	possibly damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Homer3	G	A	8: 70,290,143		probably null	Het
Iqgap3	T	C	3: 88,104,358	Y817H	probably damaging	Het
Iqsec2	C	T	X: 152,209,053	T562I	probably damaging	Het
Klb	A	G	5: 65,380,039	Y904C	probably damaging	Het
Kremen1	A	T	11: 5,199,610	S354T	probably benign	Het
Lamc3	A	G	2: 31,931,952	E1304G	probably benign	Het
Lrp4	T	C	2: 91,511,670	V1876A	probably benign	Het
Magi3	T	C	3: 104,219,714	T85A	probably damaging	Het
Map3k12	C	T	15: 102,501,259	A694T	probably benign	Het
Mex3b	T	C	7: 82,869,823	S449P	possibly damaging	Het
Naip6	C	T	13: 100,300,600	A472T	probably benign	Het
Nars2	T	C	7: 96,973,564		probably null	Het
Nlrp1a	T	G	11: 71,097,204	M1046L	probably benign	Het
Nphs1	T	G	7: 30,481,965		probably null	Het
Nup133	G	A	8: 123,944,301	T119M	probably benign	Het
Olfr770	G	T	10: 129,133,581	N62K	possibly damaging	Het
Pcdhga9	A	T	18: 37,738,641	I508F	probably damaging	Het
Phactr3	A	G	2: 178,175,406		probably benign	Het
Plcb3	T	C	19: 6,965,825	K155E	probably damaging	Het
Plxna2	C	T	1: 194,749,317	S538F	probably damaging	Het
Prss38	T	C	11: 59,373,028	Y286C	probably damaging	Het
Psg16	T	C	7: 17,090,698	S45P	possibly damaging	Het
Ptpn21	G	T	12: 98,688,248	P820Q	probably damaging	Het
Ptpn21	A	G	12: 98,715,060	V105A	probably damaging	Het
Rnf7	A	G	9: 96,478,410	M58T	probably benign	Het
Slc25a11	G	A	11: 70,644,851	A287V	probably benign	Het
Slit2	G	T	5: 48,220,081		probably null	Het
Suco	A	G	1: 161,844,852	Y460H	probably damaging	Het
Tnxb	C	T	17: 34,678,662	Q804*	probably null	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Virma	A	G	4: 11,513,901	E585G	possibly damaging	Het
Vmn2r79	A	G	7: 87,001,891	H166R	possibly damaging	Het
Vmn2r88	A	T	14: 51,417,978	D549V	probably damaging	Het

Other mutations in Trpv6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01878:Trpv6	APN	6	41626867	splice site	probably benign
IGL02033:Trpv6	APN	6	41627617	splice site	probably benign
IGL02439:Trpv6	APN	6	41625487	missense	probably damaging	1.00
R0973:Trpv6	UTSW	6	41625188	missense	probably benign	0.01
R0973:Trpv6	UTSW	6	41625188	missense	probably benign	0.01
R0974:Trpv6	UTSW	6	41625188	missense	probably benign	0.01
R1385:Trpv6	UTSW	6	41621129	missense	probably benign	0.32
R1696:Trpv6	UTSW	6	41621768	missense	possibly damaging	0.95
R2095:Trpv6	UTSW	6	41621756	missense	probably damaging	0.99
R2287:Trpv6	UTSW	6	41626111	missense	probably damaging	1.00
R2298:Trpv6	UTSW	6	41636076	missense	possibly damaging	0.62
R2519:Trpv6	UTSW	6	41624616	nonsense	probably null
R3522:Trpv6	UTSW	6	41627405	missense	probably damaging	0.99
R4172:Trpv6	UTSW	6	41625498	missense	probably damaging	1.00
R4568:Trpv6	UTSW	6	41626569	missense	probably damaging	1.00
R4571:Trpv6	UTSW	6	41621744	missense	probably damaging	1.00
R5547:Trpv6	UTSW	6	41636154	missense	possibly damaging	0.68
R6344:Trpv6	UTSW	6	41625422	splice site	probably null
R6989:Trpv6	UTSW	6	41625456	missense	probably damaging	1.00
R7427:Trpv6	UTSW	6	41625153	missense	probably benign
R7445:Trpv6	UTSW	6	41621342	missense	probably damaging	1.00
R7538:Trpv6	UTSW	6	41626167	missense	probably benign	0.01
R7960:Trpv6	UTSW	6	41627678	missense	probably benign	0.00
R8059:Trpv6	UTSW	6	41624586	missense	probably benign	0.00
R9159:Trpv6	UTSW	6	41626140	missense	probably benign
R9307:Trpv6	UTSW	6	41625444	missense	probably benign	0.31
R9635:Trpv6	UTSW	6	41622967	missense	possibly damaging	0.90
R9732:Trpv6	UTSW	6	41626928	nonsense	probably null
R9745:Trpv6	UTSW	6	41623069	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCCTCTTAGGAGATCTAGG -3'
(R):5'- ACAGTCTTTCACAGCACAGG -3'

Sequencing Primer
(F):5'- CCCTCTTAGGAGATCTAGGTGAGAG -3'
(R):5'- TTTCACAGCACAGGCCTTGG -3'

Posted On

2015-07-06