Mutagenetix > Incidental Mutation

Incidental Mutation 'R5330:Trpv5'

423134

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

042912-MU

Accession Numbers

Essential gene?

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

Stock #

R5330 (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: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

99% (95/96)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
A2m	A	G	6: 121,615,375 (GRCm39)	D83G	probably benign	Het
Abca16	T	A	7: 120,102,600 (GRCm39)	I833N	probably benign	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
Aktip	A	T	8: 91,853,352 (GRCm39)	F122I	probably damaging	Het
Ankrd27	T	A	7: 35,315,351 (GRCm39)	L500*	probably null	Het
Blm	T	C	7: 80,108,684 (GRCm39)	E55G	possibly damaging	Het
Carmil1	A	T	13: 24,209,929 (GRCm39)		probably null	Het
Cdca7	T	C	2: 72,315,042 (GRCm39)	C311R	probably damaging	Het
Cds1	T	C	5: 101,946,361 (GRCm39)	S187P	probably damaging	Het
Chuk	A	T	19: 44,067,394 (GRCm39)	V587E	probably damaging	Het
Commd10	T	C	18: 47,093,497 (GRCm39)	V19A	probably damaging	Het
Ctnnd2	C	T	15: 30,332,261 (GRCm39)	T48I	probably damaging	Het
Cyp2b10	T	A	7: 25,613,414 (GRCm39)	Y203*	probably null	Het
Dchs1	A	T	7: 105,403,809 (GRCm39)	V2911E	probably damaging	Het
Dnah12	G	A	14: 26,495,787 (GRCm39)	E1472K	probably damaging	Het
Dnah3	T	C	7: 119,542,871 (GRCm39)	T3514A	probably benign	Het
Dnah6	T	A	6: 73,051,573 (GRCm39)	I3074F	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Elp1	T	C	4: 56,800,001 (GRCm39)	T42A	probably benign	Het
Fam131c	A	T	4: 141,110,141 (GRCm39)	T180S	probably benign	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
Gm10313	T	A	8: 46,708,490 (GRCm39)		noncoding transcript	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
Grik2	G	A	10: 49,008,867 (GRCm39)	T740M	probably damaging	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
Hivep2	A	G	10: 14,007,164 (GRCm39)	K1254R	probably damaging	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
Kank1	A	G	19: 25,388,693 (GRCm39)	T789A	probably damaging	Het
Kcnj12	A	G	11: 60,961,012 (GRCm39)	K437E	probably benign	Het
Lct	A	T	1: 128,226,266 (GRCm39)	D1374E	probably benign	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
Mark4	G	A	7: 19,170,908 (GRCm39)	P321S	probably damaging	Het
Med18	A	G	4: 132,190,377 (GRCm39)		probably benign	Het
Mia2	A	G	12: 59,142,598 (GRCm39)	S5G	probably benign	Het
Mrgprb3	T	C	7: 48,292,682 (GRCm39)	T290A	possibly damaging	Het
Ms4a20	A	G	19: 11,069,222 (GRCm39)		probably benign	Het
Negr1	A	T	3: 156,774,913 (GRCm39)	K210*	probably null	Het
Nktr	T	C	9: 121,581,834 (GRCm39)		probably benign	Het
Nob1	T	G	8: 108,142,881 (GRCm39)	T267P	probably damaging	Het
Nos3	A	G	5: 24,574,902 (GRCm39)	E307G	probably damaging	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
Pcdh17	T	A	14: 84,770,486 (GRCm39)	V988E	probably damaging	Het
Pcdha4	G	A	18: 37,087,755 (GRCm39)	R646H	probably benign	Het
Per3	G	T	4: 151,125,759 (GRCm39)	L187I	probably damaging	Het
Phlpp2	A	G	8: 110,660,667 (GRCm39)	D774G	probably damaging	Het
Pibf1	T	C	14: 99,378,082 (GRCm39)	Y403H	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
Psma5	T	G	3: 108,175,386 (GRCm39)	V146G	possibly damaging	Het
Ptprk	A	T	10: 28,463,076 (GRCm39)	D189V	probably damaging	Het
Relb	C	T	7: 19,340,630 (GRCm39)	G509S	possibly damaging	Het
Rgs11	A	T	17: 26,421,947 (GRCm39)	M1L	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
Scarf1	G	A	11: 75,406,406 (GRCm39)	G230D	probably damaging	Het
Sel1l3	A	T	5: 53,343,351 (GRCm39)	Y314N	possibly 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
Snta1	C	A	2: 154,219,940 (GRCm39)	E403*	probably null	Het
Socs7	A	G	11: 97,268,852 (GRCm39)	D382G	possibly damaging	Het
Spata31d1a	A	T	13: 59,848,217 (GRCm39)	C1304S	possibly damaging	Het
Srebf2	T	A	15: 82,080,409 (GRCm39)	I834N	possibly damaging	Het
Steap1	G	T	5: 5,790,422 (GRCm39)	H175Q	probably damaging	Het
Sult2a8	T	C	7: 14,147,679 (GRCm39)	E204G	possibly damaging	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
Tecta	A	C	9: 42,249,152 (GRCm39)	D1903E	probably damaging	Het
Tmem222	A	C	4: 133,004,935 (GRCm39)	M34R	possibly damaging	Het
Tnik	A	G	3: 28,596,167 (GRCm39)	T187A	probably damaging	Het
Trpv4	A	G	5: 114,773,604 (GRCm39)	Y253H	probably damaging	Het
Ttll13	T	C	7: 79,910,257 (GRCm39)	V800A	probably benign	Het
Ush2a	G	A	1: 188,460,578 (GRCm39)	G2613E	probably benign	Het
Vmn2r58	G	A	7: 41,513,384 (GRCm39)	Q420*	probably null	Het
Zranb3	G	A	1: 127,887,457 (GRCm39)	P990L	probably damaging	Het
Zswim9	T	A	7: 12,993,912 (GRCm39)	D748V	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
R5331: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'- CAGGCCAAGTCTTAACAGCTG -3'
(R):5'- AGCATATGTGACTTACCAGGATAAG -3'

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

Posted On

2016-08-04