Mutagenetix > Incidental Mutation

Incidental Mutation 'R0973:Trpv6'

500388

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

039102-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R0973 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41620624-41636405 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41625188 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 396 (T396S)

Ref Sequence

ENSEMBL: ENSMUSP00000143854 (fasta)

Gene Model

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

AlphaFold

Q91WD2

Predicted Effect

probably benign
Transcript: ENSMUST00000031902
AA Change: T396S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000031902
Gene: ENSMUSG00000029868
AA Change: T396S

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

probably benign
Transcript: ENSMUST00000201471
AA Change: T396S

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000143854
Gene: ENSMUSG00000029868
AA Change: T396S

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

93% (38/41)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 184,033,505 (GRCm38)	S119N	probably benign	Het
4930503L19Rik	T	A	18: 70,467,926 (GRCm38)		probably null	Het
5430419D17Rik	T	C	7: 131,238,182 (GRCm38)	L611P	probably damaging	Het
Adam18	T	C	8: 24,647,853 (GRCm38)	T324A	probably benign	Het
Adamts20	T	A	15: 94,286,371 (GRCm38)	Q1517L	probably benign	Het
AI429214	A	G	8: 36,994,319 (GRCm38)	Q207R	probably benign	Het
Arhgef7	A	G	8: 11,819,659 (GRCm38)	T432A	possibly damaging	Het
Atad2b	A	G	12: 5,031,784 (GRCm38)	N1231S	probably benign	Het
Atp13a1	T	C	8: 69,802,144 (GRCm38)		probably null	Het
Atp6v0a1	T	A	11: 101,055,491 (GRCm38)	L770*	probably null	Het
Atp8b3	T	C	10: 80,534,198 (GRCm38)	N127S	probably damaging	Het
B3gnt5	T	A	16: 19,770,010 (GRCm38)	D326E	probably damaging	Het
Birc6	T	A	17: 74,565,861 (GRCm38)	S372T	probably damaging	Het
Btbd9	T	A	17: 30,299,633 (GRCm38)	D451V	probably damaging	Het
Cd46	T	C	1: 195,041,992 (GRCm38)	*366W	probably null	Het
Cdh18	T	A	15: 23,473,995 (GRCm38)	D650E	probably damaging	Het
Cenpc1	A	T	5: 86,037,908 (GRCm38)	V248E	probably damaging	Het
Cep152	A	G	2: 125,594,899 (GRCm38)	S574P	probably benign	Het
Chd2	A	G	7: 73,478,664 (GRCm38)	S858P	probably damaging	Het
Cib4	T	C	5: 30,488,594 (GRCm38)	D110G	probably damaging	Het
Col9a2	T	A	4: 121,039,788 (GRCm38)		probably null	Het
Csmd2	A	T	4: 128,496,188 (GRCm38)	I2239F	possibly damaging	Het
Csmd3	C	A	15: 47,659,089 (GRCm38)	G2728V	probably damaging	Het
Cxcl1	A	T	5: 90,891,767 (GRCm38)	K85*	probably null	Het
Cyp2d11	A	G	15: 82,389,529 (GRCm38)	L416P	possibly damaging	Het
Daam1	A	C	12: 71,915,784 (GRCm38)	K90T	unknown	Het
Depdc5	T	A	5: 32,986,966 (GRCm38)	M1435K	possibly damaging	Het
Diexf	A	T	1: 193,114,703 (GRCm38)	N573K	probably damaging	Het
Dip2c	G	A	13: 9,576,908 (GRCm38)	A632T	probably damaging	Het
Dld	A	T	12: 31,334,054 (GRCm38)	I350N	probably damaging	Het
Dmtf1	T	A	5: 9,127,987 (GRCm38)	I391F	possibly damaging	Het
Dnah14	T	C	1: 181,752,145 (GRCm38)	V3081A	probably damaging	Het
Efemp1	A	G	11: 28,854,538 (GRCm38)	E22G	probably damaging	Het
Ephb6	A	G	6: 41,614,104 (GRCm38)	D65G	probably damaging	Het
Fsip2	A	T	2: 82,977,092 (GRCm38)	T1252S	probably benign	Het
Gm13084	T	C	4: 143,811,858 (GRCm38)	Y181C	probably damaging	Het
Gm4847	A	G	1: 166,630,255 (GRCm38)	S510P	probably benign	Het
Golga4	T	C	9: 118,537,273 (GRCm38)	I365T	probably damaging	Het
Gp2	A	T	7: 119,454,543 (GRCm38)	L65Q	probably damaging	Het
Ibtk	T	C	9: 85,743,577 (GRCm38)	Y40C	probably damaging	Het
Ice1	C	A	13: 70,602,427 (GRCm38)	V1847L	probably benign	Het
Ift172	C	T	5: 31,265,355 (GRCm38)	R917H	probably benign	Het
Itgae	C	T	11: 73,138,509 (GRCm38)	Q1037*	probably null	Het
Kbtbd7	A	G	14: 79,427,430 (GRCm38)	E234G	possibly damaging	Het
Khsrp	T	C	17: 57,025,576 (GRCm38)	T235A	probably benign	Het
Klk13	T	C	7: 43,721,158 (GRCm38)		probably null	Het
Lrfn5	G	A	12: 61,843,437 (GRCm38)	G504D	probably damaging	Het
Macf1	A	G	4: 123,476,000 (GRCm38)	V91A	possibly damaging	Het
Map6	G	A	7: 99,336,743 (GRCm38)	G821D	possibly damaging	Het
Mark1	A	C	1: 184,921,604 (GRCm38)	V167G	probably damaging	Het
Mrgprf	T	A	7: 145,308,256 (GRCm38)	L185Q	probably damaging	Het
Mtor	T	A	4: 148,550,188 (GRCm38)	V2422D	probably damaging	Het
Myh13	T	A	11: 67,332,520 (GRCm38)	I222N	probably damaging	Het
Myh7b	G	A	2: 155,620,427 (GRCm38)	C350Y	probably benign	Het
Nfix	G	A	8: 84,726,526 (GRCm38)	R300C	probably damaging	Het
Olfm3	C	A	3: 115,101,986 (GRCm38)	S172R	probably benign	Het
Olfr1168	A	T	2: 88,184,978 (GRCm38)	T34S	probably benign	Het
Olfr1231	A	T	2: 89,303,184 (GRCm38)	I136N	probably damaging	Het
Olfr342	A	G	2: 36,528,008 (GRCm38)	I199V	probably benign	Het
Olfr70	A	G	4: 43,696,706 (GRCm38)	S156P	probably damaging	Het
Olfr912	T	A	9: 38,581,283 (GRCm38)	V2D	possibly damaging	Het
Pacs1	A	T	19: 5,143,829 (GRCm38)	D557E	probably damaging	Het
Pde1c	A	G	6: 56,361,815 (GRCm38)	F11L	probably benign	Het
Phactr2	T	C	10: 13,247,139 (GRCm38)	D343G	possibly damaging	Het
Piezo2	T	C	18: 63,015,802 (GRCm38)	Y2659C	probably damaging	Het
Pkd2l2	A	G	18: 34,428,252 (GRCm38)	T438A	probably damaging	Het
Pld2	T	C	11: 70,557,081 (GRCm38)	W857R	probably damaging	Het
Plxnb1	T	C	9: 109,102,142 (GRCm38)	V410A	possibly damaging	Het
Ptger2	A	G	14: 44,989,500 (GRCm38)	Y179C	probably damaging	Het
Ptpro	T	A	6: 137,443,594 (GRCm38)	V1007D	probably damaging	Het
Rcan1	A	T	16: 92,393,520 (GRCm38)	M177K	probably benign	Het
Rilpl1	A	G	5: 124,501,888 (GRCm38)	I122T	possibly damaging	Het
Rilpl1	A	G	5: 124,501,871 (GRCm38)	S156P	probably benign	Het
Rims4	C	T	2: 163,863,929 (GRCm38)	V262M	possibly damaging	Het
Rpa1	C	T	11: 75,312,973 (GRCm38)		probably null	Het
Saxo2	A	G	7: 82,634,870 (GRCm38)	V260A	probably benign	Het
Sel1l	T	C	12: 91,824,860 (GRCm38)	Y309C	probably damaging	Het
Setd1b	GCCCCCCC	GCCCCCCCCCCCCC	5: 123,160,703 (GRCm38)		probably benign	Het
Slc33a1	A	G	3: 63,943,304 (GRCm38)	F533S	probably benign	Het
Slc38a4	C	T	15: 97,005,858 (GRCm38)	V421M	probably benign	Het
Snx14	A	G	9: 88,400,721 (GRCm38)		probably null	Het
Spef2	A	G	15: 9,716,396 (GRCm38)	F368S	probably damaging	Het
Sri	A	T	5: 8,059,381 (GRCm38)	Q55L	probably damaging	Het
Stat4	A	G	1: 52,096,820 (GRCm38)	I429M	probably damaging	Het
Stkld1	A	T	2: 26,951,450 (GRCm38)	Q469L	probably benign	Het
Tm9sf1	T	C	14: 55,642,935 (GRCm38)	T2A	possibly damaging	Het
Tmco5	A	G	2: 116,883,218 (GRCm38)	T122A	probably benign	Het
Tmem59l	G	A	8: 70,486,060 (GRCm38)	P124S	possibly damaging	Het
Tmem81	G	A	1: 132,507,924 (GRCm38)	R156Q	probably damaging	Het
Usp24	T	A	4: 106,371,079 (GRCm38)	Y780*	probably null	Het
Vmn1r120	A	G	7: 21,053,016 (GRCm38)	C257R	probably damaging	Het
Vmn2r53	A	G	7: 12,601,392 (GRCm38)	F114L	probably damaging	Het
Vwf	A	G	6: 125,643,006 (GRCm38)	E1549G	probably damaging	Het
Zfp626	G	A	7: 27,818,482 (GRCm38)	R296H	probably damaging	Het

Other mutations in Trpv6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01878:Trpv6	APN	6	41,626,867 (GRCm38)	splice site	probably benign
IGL02033:Trpv6	APN	6	41,627,617 (GRCm38)	splice site	probably benign
IGL02439:Trpv6	APN	6	41,625,487 (GRCm38)	missense	probably damaging	1.00
R0973:Trpv6	UTSW	6	41,625,188 (GRCm38)	missense	probably benign	0.01
R0974:Trpv6	UTSW	6	41,625,188 (GRCm38)	missense	probably benign	0.01
R1385:Trpv6	UTSW	6	41,621,129 (GRCm38)	missense	probably benign	0.32
R1696:Trpv6	UTSW	6	41,621,768 (GRCm38)	missense	possibly damaging	0.95
R2095:Trpv6	UTSW	6	41,621,756 (GRCm38)	missense	probably damaging	0.99
R2287:Trpv6	UTSW	6	41,626,111 (GRCm38)	missense	probably damaging	1.00
R2298:Trpv6	UTSW	6	41,636,076 (GRCm38)	missense	possibly damaging	0.62
R2519:Trpv6	UTSW	6	41,624,616 (GRCm38)	nonsense	probably null
R3522:Trpv6	UTSW	6	41,627,405 (GRCm38)	missense	probably damaging	0.99
R4172:Trpv6	UTSW	6	41,625,498 (GRCm38)	missense	probably damaging	1.00
R4397:Trpv6	UTSW	6	41,625,238 (GRCm38)	missense	possibly damaging	0.82
R4568:Trpv6	UTSW	6	41,626,569 (GRCm38)	missense	probably damaging	1.00
R4571:Trpv6	UTSW	6	41,621,744 (GRCm38)	missense	probably damaging	1.00
R5547:Trpv6	UTSW	6	41,636,154 (GRCm38)	missense	possibly damaging	0.68
R6344:Trpv6	UTSW	6	41,625,422 (GRCm38)	splice site	probably null
R6989:Trpv6	UTSW	6	41,625,456 (GRCm38)	missense	probably damaging	1.00
R7427:Trpv6	UTSW	6	41,625,153 (GRCm38)	missense	probably benign
R7445:Trpv6	UTSW	6	41,621,342 (GRCm38)	missense	probably damaging	1.00
R7538:Trpv6	UTSW	6	41,626,167 (GRCm38)	missense	probably benign	0.01
R7960:Trpv6	UTSW	6	41,627,678 (GRCm38)	missense	probably benign	0.00
R8059:Trpv6	UTSW	6	41,624,586 (GRCm38)	missense	probably benign	0.00
R9159:Trpv6	UTSW	6	41,626,140 (GRCm38)	missense	probably benign
R9307:Trpv6	UTSW	6	41,625,444 (GRCm38)	missense	probably benign	0.31
R9635:Trpv6	UTSW	6	41,622,967 (GRCm38)	missense	possibly damaging	0.90
R9732:Trpv6	UTSW	6	41,626,928 (GRCm38)	nonsense	probably null
R9745:Trpv6	UTSW	6	41,623,069 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-12-01