Mutagenetix > Incidental Mutation

Incidental Mutation 'R2095:Trpv6'

232039

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

040099-MU

Accession Numbers

Essential gene?

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

Stock #

R2095 (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 41598690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 645 (R645Q)

Ref Sequence

ENSEMBL: ENSMUSP00000143854 (fasta)

Gene Model

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

AlphaFold

Q91WD2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031902
AA Change: R645Q

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000031902
Gene: ENSMUSG00000029868
AA Change: R645Q

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: R645Q

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143854
Gene: ENSMUSG00000029868
AA Change: R645Q

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

0.1506

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

97% (58/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	C	A	4: 122,596,151 (GRCm39)	Y127*	probably null	Het
Adam33	C	T	2: 130,895,629 (GRCm39)	G562D	probably damaging	Het
Adh1	T	C	3: 137,988,557 (GRCm39)	F177L	probably damaging	Het
Arhgef17	T	C	7: 100,530,470 (GRCm39)	T1439A	probably damaging	Het
Arl5c	C	T	11: 97,884,277 (GRCm39)	E105K	probably damaging	Het
Armc3	T	A	2: 19,293,740 (GRCm39)	D510E	possibly damaging	Het
Bbx	T	C	16: 50,045,052 (GRCm39)	E395G	possibly damaging	Het
Cacna2d2	G	A	9: 107,404,364 (GRCm39)	E1087K	probably benign	Het
Casq1	T	C	1: 172,043,529 (GRCm39)	N113S	probably benign	Het
Cbfa2t3	A	G	8: 123,361,727 (GRCm39)	S432P	probably benign	Het
Ccn2	T	C	10: 24,472,377 (GRCm39)	V140A	probably benign	Het
Cd163	A	G	6: 124,294,781 (GRCm39)	D615G	probably damaging	Het
Chrnb2	A	T	3: 89,668,744 (GRCm39)	D190E	probably benign	Het
Clec9a	T	C	6: 129,393,321 (GRCm39)	L115P	possibly damaging	Het
Cluh	C	T	11: 74,552,550 (GRCm39)	R532*	probably null	Het
Cntnap5a	T	A	1: 116,369,990 (GRCm39)	L869Q	probably damaging	Het
Cyp3a57	A	T	5: 145,305,944 (GRCm39)	K143*	probably null	Het
Dcaf12	G	T	4: 41,294,085 (GRCm39)	H351N	probably benign	Het
Dtna	T	A	18: 23,702,805 (GRCm39)	L112Q	probably damaging	Het
Fnta	G	A	8: 26,489,907 (GRCm39)	Q303*	probably null	Het
Frs2	T	C	10: 116,910,507 (GRCm39)	E285G	probably benign	Het
Gabra4	T	C	5: 71,781,455 (GRCm39)	I293V	probably damaging	Het
Gm2431	A	T	7: 141,811,518 (GRCm39)	C129S	unknown	Het
Gnl2	C	T	4: 124,928,111 (GRCm39)	R49C	probably damaging	Het
Helz	T	A	11: 107,536,972 (GRCm39)	Y275N	probably damaging	Het
Hydin	A	G	8: 111,189,289 (GRCm39)	E1231G	probably damaging	Het
Kctd11	T	A	11: 69,770,402 (GRCm39)	D212V	probably damaging	Het
Klf3	T	A	5: 64,979,245 (GRCm39)	M29K	probably benign	Het
Klhl21	T	C	4: 152,093,850 (GRCm39)	S151P	probably benign	Het
Lsm14b	A	T	2: 179,673,580 (GRCm39)		probably benign	Het
Mlxipl	T	C	5: 135,150,974 (GRCm39)		probably benign	Het
Mov10	G	A	3: 104,708,847 (GRCm39)	R389C	probably damaging	Het
Msh6	A	G	17: 88,295,661 (GRCm39)	M1071V	possibly damaging	Het
Myh8	G	T	11: 67,177,050 (GRCm39)	A401S	probably benign	Het
Ndufv3	T	C	17: 31,746,460 (GRCm39)	S117P	possibly damaging	Het
Obscn	A	T	11: 58,984,410 (GRCm39)		probably null	Het
Or1e22	T	A	11: 73,377,420 (GRCm39)	T77S	probably damaging	Het
Or2l13	T	C	16: 19,305,681 (GRCm39)	I31T	probably benign	Het
Or4c11c	T	C	2: 88,661,634 (GRCm39)	Y58H	probably damaging	Het
Or8g50	T	A	9: 39,648,557 (GRCm39)	Y149N	probably damaging	Het
Pcdhb17	T	A	18: 37,619,375 (GRCm39)	D388E	probably benign	Het
Pgm3	T	C	9: 86,438,394 (GRCm39)	T423A	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
S1pr5	T	A	9: 21,156,154 (GRCm39)	T91S	probably benign	Het
Sgcz	T	C	8: 38,007,546 (GRCm39)		probably benign	Het
Slc33a1	A	G	3: 63,871,376 (GRCm39)	L79P	probably damaging	Het
Slco2a1	A	G	9: 102,954,167 (GRCm39)	T383A	probably benign	Het
Slit1	G	A	19: 41,594,819 (GRCm39)	R1184W	probably damaging	Het
Spta1	T	A	1: 174,071,764 (GRCm39)	M2248K	possibly damaging	Het
Stub1	A	G	17: 26,049,864 (GRCm39)	Y304H	probably damaging	Het
Taar7e	T	A	10: 23,913,949 (GRCm39)	Y146*	probably null	Het
Tbc1d1	C	T	5: 64,473,844 (GRCm39)	S660L	probably benign	Het
Tcea2	C	A	2: 181,328,725 (GRCm39)	F259L	probably damaging	Het
Tcp11l1	T	A	2: 104,512,185 (GRCm39)	K482N	probably damaging	Het
Uaca	T	A	9: 60,748,125 (GRCm39)	S30T	probably benign	Het
Ubap2	C	G	4: 41,206,901 (GRCm39)	V492L	possibly damaging	Het
Ube3c	T	C	5: 29,873,038 (GRCm39)	F1026S	probably damaging	Het
Vmn2r8	T	G	5: 108,956,487 (GRCm39)	D45A	possibly damaging	Het
Zfp738	G	T	13: 67,819,422 (GRCm39)	L180I	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
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

Predicted Primers

PCR Primer
(F):5'- GGTCTAGAAAGCATACAGGCC -3'
(R):5'- GGGGTTCAAGTCTCATCCATTC -3'

Sequencing Primer
(F):5'- AGGCCTCCACAGAGCTTCTAG -3'
(R):5'- CCACGGAAGAGGCTCTATTAAGTTC -3'

Posted On

2014-09-18