Mutagenetix > Incidental Mutation

Incidental Mutation 'R5331:Trpv5'

423228

Institutional Source

Beutler Lab

Gene Symbol

Trpv5

Ensembl Gene

ENSMUSG00000036899

Gene Name

transient receptor potential cation channel, subfamily V, member 5

Synonyms

CaT2, ECaC1

MMRRC Submission

042913-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R5331 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41629107-41657703 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 41637266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 358 (R358C)

Ref Sequence

ENSEMBL: ENSMUSP00000141421 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031901] [ENSMUST00000193503]

AlphaFold

P69744

Predicted Effect

probably benign
Transcript: ENSMUST00000031901
AA Change: R407C

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000031901
Gene: ENSMUSG00000036899
AA Change: R407C

Domain	Start	End	E-Value	Type
Blast:ANK	38	68	1e-7	BLAST
ANK	72	102	2.3e0	SMART
ANK	110	139	4.56e-4	SMART
ANK	156	185	1.85e-4	SMART
Blast:ANK	189	217	3e-10	BLAST
ANK	232	261	3.07e2	SMART
Pfam:Ion_trans	321	583	1.8e-19	PFAM
low complexity region	676	691	N/A	INTRINSIC
low complexity region	708	719	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193503
AA Change: R358C

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000141421
Gene: ENSMUSG00000036899
AA Change: R358C

Domain	Start	End	E-Value	Type
Blast:ANK	38	68	1e-7	BLAST
ANK	72	102	1.5e-2	SMART
ANK	110	139	2.8e-6	SMART
ANK	156	185	1.2e-6	SMART
Blast:ANK	189	217	4e-10	BLAST
transmembrane domain	274	296	N/A	INTRINSIC
Pfam:Ion_trans	335	522	2.7e-12	PFAM
low complexity region	627	642	N/A	INTRINSIC
low complexity region	659	670	N/A	INTRINSIC

Meta Mutation Damage Score

0.1525

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

100% (99/99)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the transient receptor family and the TrpV subfamily. The calcium-selective channel encoded by this gene has 6 transmembrane-spanning domains, multiple potential phosphorylation sites, an N-linked glycosylation site, and 5 ANK repeats. This protein forms homotetramers or heterotetramers and is activated by a low internal calcium level. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit increased calcium excretion and reduced bone thickenss. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,615,375 (GRCm39)	D83G	probably benign	Het
Ablim1	T	C	19: 57,143,681 (GRCm39)	T80A	probably damaging	Het
Adam6b	C	A	12: 113,454,200 (GRCm39)	P339H	possibly damaging	Het
Adgrb2	A	T	4: 129,915,995 (GRCm39)	H1505L	possibly damaging	Het
Ankrd46	G	A	15: 36,486,175 (GRCm39)	T26I	probably benign	Het
Bmpr1b	T	C	3: 141,562,176 (GRCm39)	N337S	probably damaging	Het
Ccdc47	C	T	11: 106,101,176 (GRCm39)	R162Q	probably benign	Het
Cct5	A	G	15: 31,594,448 (GRCm39)		probably benign	Het
Cdca2	T	C	14: 67,914,920 (GRCm39)	K780E	possibly damaging	Het
Cds1	T	C	5: 101,946,361 (GRCm39)	S187P	probably damaging	Het
Ces3a	G	A	8: 105,784,188 (GRCm39)	E416K	probably damaging	Het
Chd8	T	A	14: 52,439,571 (GRCm39)		probably benign	Het
Chuk	A	T	19: 44,067,394 (GRCm39)	V587E	probably damaging	Het
Clec16a	G	A	16: 10,549,543 (GRCm39)	C872Y	probably damaging	Het
Commd10	T	C	18: 47,093,497 (GRCm39)	V19A	probably damaging	Het
Ctsa	A	G	2: 164,676,229 (GRCm39)		probably benign	Het
Dnah6	T	A	6: 73,051,573 (GRCm39)	I3074F	probably damaging	Het
Dydc1	T	C	14: 40,804,320 (GRCm39)		probably null	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
Elp1	T	C	4: 56,800,001 (GRCm39)	T42A	probably benign	Het
Enpp3	T	A	10: 24,684,058 (GRCm39)	N227I	probably damaging	Het
Fam131c	A	T	4: 141,110,141 (GRCm39)	T180S	probably benign	Het
Fam193a	C	A	5: 34,622,915 (GRCm39)		probably null	Het
Fbxo41	T	C	6: 85,456,888 (GRCm39)	E427G	probably benign	Het
Gabrr2	A	G	4: 33,082,583 (GRCm39)	K236E	possibly damaging	Het
Gm10152	A	T	7: 144,317,283 (GRCm39)		noncoding transcript	Het
Gm18025	C	T	12: 34,340,574 (GRCm39)	C173Y	probably benign	Het
Gm5414	C	A	15: 101,533,099 (GRCm39)	V443F	probably damaging	Het
Gm7334	T	C	17: 51,006,160 (GRCm39)	S149P	possibly damaging	Het
Gpaa1	T	A	15: 76,216,511 (GRCm39)		probably benign	Het
Grik2	G	A	10: 49,008,867 (GRCm39)	T740M	probably damaging	Het
Gvin3	T	C	7: 106,197,958 (GRCm39)		noncoding transcript	Het
Hdac5	T	C	11: 102,088,180 (GRCm39)	Y930C	probably damaging	Het
Hepacam2	T	C	6: 3,483,377 (GRCm39)	T211A	probably benign	Het
Herc4	G	T	10: 63,143,578 (GRCm39)	E703*	probably null	Het
Hras	T	C	7: 140,772,853 (GRCm39)	M1V	probably null	Het
Il23r	T	G	6: 67,400,479 (GRCm39)	Q617P	probably damaging	Het
Insc	T	A	7: 114,444,273 (GRCm39)	M420K	probably damaging	Het
Ints10	A	T	8: 69,273,472 (GRCm39)		probably null	Het
Kank1	A	G	19: 25,388,693 (GRCm39)	T789A	probably damaging	Het
Kat6a	T	A	8: 23,430,000 (GRCm39)	L1785Q	unknown	Het
Kcnj12	A	G	11: 60,961,012 (GRCm39)	K437E	probably benign	Het
Knl1	T	A	2: 118,900,736 (GRCm39)	D812E	possibly damaging	Het
Luc7l	C	A	17: 26,494,707 (GRCm39)	C104*	probably null	Het
Lurap1	G	A	4: 116,001,601 (GRCm39)	L31F	probably damaging	Het
Mia2	A	G	12: 59,142,598 (GRCm39)	S5G	probably benign	Het
Mon1b	C	T	8: 114,362,899 (GRCm39)	T49I	probably null	Het
Mrgprb3	T	C	7: 48,292,682 (GRCm39)	T290A	possibly damaging	Het
Ms4a20	A	G	19: 11,069,222 (GRCm39)		probably benign	Het
Mxd3	T	C	13: 55,477,071 (GRCm39)		probably benign	Het
Negr1	A	T	3: 156,774,913 (GRCm39)	K210*	probably null	Het
Nek7	A	T	1: 138,426,312 (GRCm39)		probably null	Het
Nktr	T	C	9: 121,581,834 (GRCm39)		probably benign	Het
Nrxn2	A	G	19: 6,540,111 (GRCm39)	T796A	probably damaging	Het
Nwd2	C	A	5: 63,963,859 (GRCm39)	L1148I	probably benign	Het
Or5d46	T	C	2: 88,170,332 (GRCm39)	L141P	probably damaging	Het
Osmr	G	C	15: 6,872,362 (GRCm39)	T244S	probably damaging	Het
Ovol3	T	C	7: 29,932,904 (GRCm39)	D177G	possibly damaging	Het
Pcdha4	G	A	18: 37,087,755 (GRCm39)	R646H	probably benign	Het
Pdilt	T	C	7: 119,114,147 (GRCm39)	E117G	possibly damaging	Het
Pecr	A	G	1: 72,314,005 (GRCm39)		probably benign	Het
Per3	G	T	4: 151,125,759 (GRCm39)	L187I	probably damaging	Het
Plcl2	G	A	17: 50,816,876 (GRCm39)	A81T	probably benign	Het
Polr2a	T	C	11: 69,638,101 (GRCm39)	N123D	probably benign	Het
Prex2	T	A	1: 11,210,235 (GRCm39)	D558E	possibly damaging	Het
Psma5	T	G	3: 108,175,386 (GRCm39)	V146G	possibly damaging	Het
Rgs11	A	T	17: 26,421,947 (GRCm39)	M1L	probably benign	Het
Rgsl1	T	C	1: 153,678,038 (GRCm39)	N130S	probably benign	Het
Rhbg	T	A	3: 88,152,775 (GRCm39)	T313S	probably benign	Het
Ripply2	T	A	9: 86,897,691 (GRCm39)		probably benign	Het
Scap	T	C	9: 110,210,701 (GRCm39)	V1011A	probably benign	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Scarf1	G	A	11: 75,406,406 (GRCm39)	G230D	probably damaging	Het
Slc17a8	A	G	10: 89,425,356 (GRCm39)		probably null	Het
Slc22a14	A	T	9: 119,059,662 (GRCm39)	L153Q	probably damaging	Het
Slc22a27	A	G	19: 7,856,820 (GRCm39)	I406T	probably benign	Het
Slc30a6	A	G	17: 74,730,190 (GRCm39)	D355G	probably benign	Het
Socs7	A	G	11: 97,268,852 (GRCm39)	D382G	possibly damaging	Het
Sphkap	A	G	1: 83,254,503 (GRCm39)	V1082A	probably benign	Het
Stox2	G	A	8: 47,866,662 (GRCm39)		probably benign	Het
Tacc2	T	C	7: 130,335,258 (GRCm39)	S524P	probably damaging	Het
Tbc1d9b	C	T	11: 50,037,140 (GRCm39)	A263V	probably benign	Het
Tekt5	C	T	16: 10,179,193 (GRCm39)	M391I	probably benign	Het
Tfap2b	A	T	1: 19,296,722 (GRCm39)	M222L	probably benign	Het
Themis2	T	C	4: 132,510,244 (GRCm39)	D652G	possibly damaging	Het
Tmem185b	A	G	1: 119,455,322 (GRCm39)		probably benign	Het
Trpv4	A	G	5: 114,773,604 (GRCm39)	Y253H	probably damaging	Het
Ush2a	G	A	1: 188,460,578 (GRCm39)	G2613E	probably benign	Het
Usp25	C	A	16: 76,847,446 (GRCm39)	Q185K	probably damaging	Het
Xkr5	G	A	8: 18,983,484 (GRCm39)		probably benign	Het
Zfp541	C	T	7: 15,829,683 (GRCm39)	P1331S	probably damaging	Het

Other mutations in Trpv5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01349:Trpv5	APN	6	41,652,309 (GRCm39)	missense	possibly damaging	0.87
IGL01704:Trpv5	APN	6	41,630,192 (GRCm39)	missense	possibly damaging	0.88
IGL01860:Trpv5	APN	6	41,637,229 (GRCm39)	missense	probably damaging	1.00
IGL01950:Trpv5	APN	6	41,652,912 (GRCm39)	missense	probably benign	0.09
Firesign	UTSW	6	41,634,976 (GRCm39)	missense	probably damaging	1.00
gingame	UTSW	6	41,647,895 (GRCm39)	missense	probably damaging	1.00
R0515:Trpv5	UTSW	6	41,651,145 (GRCm39)	intron	probably benign
R1581:Trpv5	UTSW	6	41,630,074 (GRCm39)	missense	probably damaging	1.00
R1633:Trpv5	UTSW	6	41,652,854 (GRCm39)	nonsense	probably null
R1658:Trpv5	UTSW	6	41,651,216 (GRCm39)	missense	probably damaging	1.00
R1677:Trpv5	UTSW	6	41,634,731 (GRCm39)	missense	probably benign	0.44
R1955:Trpv5	UTSW	6	41,634,871 (GRCm39)	missense	probably damaging	1.00
R2008:Trpv5	UTSW	6	41,636,662 (GRCm39)	critical splice acceptor site	probably null
R2331:Trpv5	UTSW	6	41,636,902 (GRCm39)	missense	probably damaging	1.00
R2519:Trpv5	UTSW	6	41,651,284 (GRCm39)	missense	probably damaging	0.99
R2973:Trpv5	UTSW	6	41,630,165 (GRCm39)	missense	possibly damaging	0.81
R2974:Trpv5	UTSW	6	41,630,165 (GRCm39)	missense	possibly damaging	0.81
R3877:Trpv5	UTSW	6	41,637,277 (GRCm39)	missense	probably benign	0.10
R3923:Trpv5	UTSW	6	41,630,183 (GRCm39)	missense	probably benign	0.00
R4056:Trpv5	UTSW	6	41,636,639 (GRCm39)	missense	probably damaging	1.00
R4396:Trpv5	UTSW	6	41,634,830 (GRCm39)	missense	probably benign	0.00
R4757:Trpv5	UTSW	6	41,630,148 (GRCm39)	missense	probably damaging	0.98
R5013:Trpv5	UTSW	6	41,636,647 (GRCm39)	missense	probably damaging	1.00
R5039:Trpv5	UTSW	6	41,652,879 (GRCm39)	missense	possibly damaging	0.73
R5330:Trpv5	UTSW	6	41,637,266 (GRCm39)	missense	probably benign	0.06
R6270:Trpv5	UTSW	6	41,651,293 (GRCm39)	missense	possibly damaging	0.94
R6405:Trpv5	UTSW	6	41,651,602 (GRCm39)	missense	probably damaging	1.00
R6575:Trpv5	UTSW	6	41,652,903 (GRCm39)	missense	probably benign
R6669:Trpv5	UTSW	6	41,634,976 (GRCm39)	missense	probably damaging	1.00
R6681:Trpv5	UTSW	6	41,630,288 (GRCm39)	missense	probably damaging	0.97
R6817:Trpv5	UTSW	6	41,634,941 (GRCm39)	missense	possibly damaging	0.65
R7021:Trpv5	UTSW	6	41,630,204 (GRCm39)	missense	probably benign	0.00
R7069:Trpv5	UTSW	6	41,652,894 (GRCm39)	missense	possibly damaging	0.94
R7161:Trpv5	UTSW	6	41,637,470 (GRCm39)	nonsense	probably null
R7241:Trpv5	UTSW	6	41,652,242 (GRCm39)	nonsense	probably null
R7505:Trpv5	UTSW	6	41,651,590 (GRCm39)	missense	probably damaging	0.99
R7806:Trpv5	UTSW	6	41,651,867 (GRCm39)	missense	probably damaging	0.99
R8060:Trpv5	UTSW	6	41,651,465 (GRCm39)	nonsense	probably null
R8407:Trpv5	UTSW	6	41,652,272 (GRCm39)	missense	probably benign	0.02
R8428:Trpv5	UTSW	6	41,630,182 (GRCm39)	missense	possibly damaging	0.48
R8435:Trpv5	UTSW	6	41,647,827 (GRCm39)	missense	probably damaging	1.00
R8762:Trpv5	UTSW	6	41,652,313 (GRCm39)	missense	probably benign	0.36
R8885:Trpv5	UTSW	6	41,630,192 (GRCm39)	missense	possibly damaging	0.88
R8896:Trpv5	UTSW	6	41,647,847 (GRCm39)	missense	probably damaging	1.00
R9566:Trpv5	UTSW	6	41,637,456 (GRCm39)	missense	probably null	1.00
R9594:Trpv5	UTSW	6	41,647,773 (GRCm39)	missense	probably benign
R9701:Trpv5	UTSW	6	41,651,594 (GRCm39)	missense	possibly damaging	0.82
Z1177:Trpv5	UTSW	6	41,651,255 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCAAGTCTTAACAGCTGAAAC -3'
(R):5'- AGGAAGCATATGTGACTTACCAGG -3'

Sequencing Primer
(F):5'- GTCTTAACAGCTGAAACACAAATC -3'
(R):5'- GATAAGATCCGGCTGGTCG -3'

Posted On

2016-08-04