Mutagenetix > Incidental Mutation

Incidental Mutation 'R1677:Trpv5'

188180

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

039713-MU

Accession Numbers

Essential gene?

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

Stock #

R1677 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41629107-41657703 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41634731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 533 (R533G)

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: R582G

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000031901
Gene: ENSMUSG00000036899
AA Change: R582G

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: R533G

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000141421
Gene: ENSMUSG00000036899
AA Change: R533G

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

0.0705

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

100% (95/95)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	T	11: 23,467,357 (GRCm39)	M92K	probably benign	Het
4931406C07Rik	T	C	9: 15,212,660 (GRCm39)		probably null	Het
A430005L14Rik	G	A	4: 154,045,357 (GRCm39)	V129M	probably damaging	Het
Actg2	T	C	6: 83,499,801 (GRCm39)	T150A	possibly damaging	Het
Actn1	A	T	12: 80,306,806 (GRCm39)	D20E	probably benign	Het
Alcam	C	T	16: 52,091,136 (GRCm39)	E461K	probably damaging	Het
Anapc1	G	A	2: 128,518,128 (GRCm39)	P242L	probably benign	Het
Ankrd49	A	T	9: 14,692,674 (GRCm39)	D163E	probably benign	Het
Atp8b5	G	A	4: 43,372,903 (GRCm39)	R1149Q	possibly damaging	Het
Cacnb3	G	T	15: 98,540,455 (GRCm39)	V328F	probably damaging	Het
Camk4	T	C	18: 33,309,275 (GRCm39)	I226T	probably damaging	Het
Ccdc148	T	C	2: 58,892,176 (GRCm39)	D172G	probably damaging	Het
Cdh12	A	G	15: 21,520,491 (GRCm39)	I319V	probably damaging	Het
Cenpc1	T	C	5: 86,209,857 (GRCm39)		probably benign	Het
Cfap69	A	C	5: 5,632,457 (GRCm39)	N15K	probably damaging	Het
Ckap2l	A	C	2: 129,127,087 (GRCm39)	S364A	possibly damaging	Het
Clic6	G	A	16: 92,324,972 (GRCm39)	G36R	probably damaging	Het
Col6a3	T	C	1: 90,749,583 (GRCm39)	Y417C	probably benign	Het
Cstf3	T	A	2: 104,494,623 (GRCm39)		probably benign	Het
Cyp4f39	G	A	17: 32,711,304 (GRCm39)	A484T	probably benign	Het
Dnah3	T	C	7: 119,527,963 (GRCm39)	N3829D	probably damaging	Het
Dntt	C	A	19: 41,017,923 (GRCm39)	P16T	probably benign	Het
Dym	T	A	18: 75,258,583 (GRCm39)	I447N	probably damaging	Het
Elmo1	T	C	13: 20,773,841 (GRCm39)	V617A	probably benign	Het
Elovl7	G	A	13: 108,419,160 (GRCm39)	G264D	probably damaging	Het
Epha7	T	A	4: 28,947,571 (GRCm39)	Y610*	probably null	Het
Fn1	T	C	1: 71,636,814 (GRCm39)	I178V	probably benign	Het
Fndc9	T	C	11: 46,129,152 (GRCm39)	Y224H	probably benign	Het
Gad1	T	C	2: 70,404,521 (GRCm39)	V137A	probably damaging	Het
Gapvd1	A	G	2: 34,590,773 (GRCm39)		probably null	Het
Gbp11	C	T	5: 105,475,277 (GRCm39)	C357Y	probably damaging	Het
Gcc1	G	A	6: 28,419,163 (GRCm39)	A390V	probably benign	Het
Gm6811	A	G	17: 21,314,185 (GRCm39)		noncoding transcript	Het
Htt	A	T	5: 34,985,918 (GRCm39)	D1063V	probably damaging	Het
Igfn1	C	T	1: 135,898,839 (GRCm39)	A576T	probably damaging	Het
Il12rb2	T	C	6: 67,280,485 (GRCm39)	Y240C	probably damaging	Het
Itga3	T	C	11: 94,946,585 (GRCm39)	D747G	probably damaging	Het
Kcnip2	A	C	19: 45,782,979 (GRCm39)	D134E	probably damaging	Het
Kif2b	C	A	11: 91,466,798 (GRCm39)	R495I	probably damaging	Het
Lef1	T	C	3: 130,993,938 (GRCm39)		probably benign	Het
Lias	C	T	5: 65,548,981 (GRCm39)	R4C	probably damaging	Het
Lpcat2	T	C	8: 93,591,560 (GRCm39)	V68A	probably benign	Het
Lrrc37	A	T	11: 103,505,768 (GRCm39)	S2067T	probably benign	Het
Lrrc8e	A	T	8: 4,284,190 (GRCm39)	K138N	probably damaging	Het
Map4k5	G	A	12: 69,852,082 (GRCm39)	H767Y	probably benign	Het
Mga	C	A	2: 119,791,333 (GRCm39)	T2406K	possibly damaging	Het
Mtx1	A	T	3: 89,116,648 (GRCm39)	S418T	probably benign	Het
Myh7	C	T	14: 55,224,973 (GRCm39)	M531I	probably benign	Het
Myorg	C	T	4: 41,497,947 (GRCm39)	R561H	probably benign	Het
Ncaph2	T	A	15: 89,255,427 (GRCm39)	M555K	probably damaging	Het
Nckap1	C	T	2: 80,348,286 (GRCm39)	S889N	probably benign	Het
Ncoa6	T	C	2: 155,244,584 (GRCm39)		probably benign	Het
Nrp2	A	G	1: 62,822,479 (GRCm39)	S691G	probably benign	Het
Odad2	T	C	18: 7,222,554 (GRCm39)	T572A	probably benign	Het
Odf2l	A	T	3: 144,845,543 (GRCm39)		probably null	Het
Or5aq6	T	A	2: 86,923,081 (GRCm39)	H220L	probably benign	Het
Pcdh20	A	G	14: 88,705,410 (GRCm39)	V630A	probably damaging	Het
Pebp4	T	C	14: 70,285,923 (GRCm39)		probably null	Het
Ppfia3	T	A	7: 45,006,090 (GRCm39)	M301L	probably benign	Het
Ppp1r21	C	A	17: 88,858,097 (GRCm39)	Q203K	probably benign	Het
Prr23a1	T	C	9: 98,725,406 (GRCm39)	V256A	probably benign	Het
Rbfox1	A	G	16: 7,110,091 (GRCm39)	R150G	possibly damaging	Het
Rnps1-ps	A	T	6: 7,982,943 (GRCm39)		noncoding transcript	Het
Robo3	T	C	9: 37,329,005 (GRCm39)	R1238G	possibly damaging	Het
Rp9	T	G	9: 22,365,097 (GRCm39)	Q35P	probably damaging	Het
Rsrc1	C	A	3: 67,262,808 (GRCm39)	A254E	probably damaging	Het
Shtn1	T	A	19: 58,998,222 (GRCm39)	K390N	probably damaging	Het
Sidt2	C	T	9: 45,864,517 (GRCm39)	V71I	probably benign	Het
Sirt7	A	G	11: 120,515,365 (GRCm39)	V97A	possibly damaging	Het
Slc14a2	A	G	18: 78,206,419 (GRCm39)	S466P	probably benign	Het
Slc2a10	T	A	2: 165,357,361 (GRCm39)	D340E	probably benign	Het
Slc36a2	A	C	11: 55,075,735 (GRCm39)	N17K	probably benign	Het
Slc4a10	A	C	2: 62,155,071 (GRCm39)	N1086T	probably benign	Het
Sptb	T	C	12: 76,676,423 (GRCm39)	D177G	probably damaging	Het
Srpk2	A	T	5: 23,730,748 (GRCm39)		probably null	Het
Sucla2	T	G	14: 73,830,121 (GRCm39)	V386G	probably damaging	Het
Susd1	G	T	4: 59,424,089 (GRCm39)	N45K	possibly damaging	Het
Tbxas1	T	C	6: 38,994,822 (GRCm39)		probably benign	Het
Topors	C	T	4: 40,261,776 (GRCm39)	E503K	probably damaging	Het
Tshr	A	G	12: 91,504,115 (GRCm39)	H351R	possibly damaging	Het
Ube2f	G	A	1: 91,203,037 (GRCm39)	V94M	probably damaging	Het
Ugdh	A	G	5: 65,580,521 (GRCm39)	S216P	probably damaging	Het
Unc45b	T	A	11: 82,802,531 (GRCm39)		probably null	Het
Vmn1r226	A	G	17: 20,908,335 (GRCm39)	E189G	probably damaging	Het
Xrcc6	T	G	15: 81,913,900 (GRCm39)	D75E	probably benign	Het
Ypel1	A	G	16: 16,921,474 (GRCm39)	L70P	probably damaging	Het
Zcwpw1	A	T	5: 137,795,022 (GRCm39)	R73W	probably damaging	Het
Zfp219	T	C	14: 52,246,512 (GRCm39)	E160G	probably damaging	Het
Zfp804b	G	T	5: 7,229,533 (GRCm39)		probably benign	Het
Zscan22	C	A	7: 12,640,730 (GRCm39)	P325T	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
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
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'- CAAACTCTGTGCTTAGATCCTCCAGTG -3'
(R):5'- AATGTTCAGCACCTTTGAGCTGTTCC -3'

Sequencing Primer
(F):5'- AGATCCTCCAGTGTCTCATGC -3'
(R):5'- TCCTCACCATCATTGACGGAC -3'

Posted On

2014-05-09