Mutagenetix > Incidental Mutation

Incidental Mutation 'R2008:Trpv5'

219212

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

040017-MU

Accession Numbers

Essential gene?

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

Stock #

R2008 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41629107-41657703 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 41636662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141421 (fasta)

Gene Model

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

AlphaFold

P69744

Predicted Effect

probably null
Transcript: ENSMUST00000031901

SMART Domains

Protein: ENSMUSP00000031901
Gene: ENSMUSG00000036899

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 null
Transcript: ENSMUST00000193503

SMART Domains

Protein: ENSMUSP00000141421
Gene: ENSMUSG00000036899

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	A	4: 148,026,034 (GRCm39)	C185S	probably benign	Het
Acsbg3	A	G	17: 57,193,478 (GRCm39)	N608S	probably benign	Het
Actl6b	T	A	5: 137,567,592 (GRCm39)	S409T	probably damaging	Het
Adam34l	A	T	8: 44,080,074 (GRCm39)	V50D	probably benign	Het
Adgrf2	T	C	17: 43,021,013 (GRCm39)	T604A	probably damaging	Het
Adprs	T	A	4: 126,211,137 (GRCm39)	D260V	probably benign	Het
Akap9	A	G	5: 4,010,131 (GRCm39)	E296G	possibly damaging	Het
Alg5	A	G	3: 54,653,894 (GRCm39)	Y210C	possibly damaging	Het
Aoc1	T	C	6: 48,882,831 (GRCm39)	W236R	probably damaging	Het
Atp11b	A	G	3: 35,909,271 (GRCm39)	D1155G	probably damaging	Het
Atp2c1	T	A	9: 105,309,925 (GRCm39)	T551S	probably benign	Het
Atp7b	A	T	8: 22,517,996 (GRCm39)	C281S	probably damaging	Het
Bmp1	C	T	14: 70,729,906 (GRCm39)	C466Y	probably damaging	Het
Cabin1	T	C	10: 75,570,810 (GRCm39)		probably null	Het
Capn9	T	G	8: 125,318,424 (GRCm39)	C97G	probably damaging	Het
Cbfa2t3	A	G	8: 123,370,032 (GRCm39)	V147A	probably damaging	Het
Ccdc83	T	A	7: 89,893,349 (GRCm39)	Y136F	probably damaging	Het
Cdh6	C	A	15: 13,051,562 (GRCm39)	R357L	possibly damaging	Het
Celf1	A	T	2: 90,840,753 (GRCm39)	N367I	probably damaging	Het
Cep350	T	C	1: 155,790,467 (GRCm39)	I1363V	probably benign	Het
Cfap299	C	T	5: 98,885,561 (GRCm39)	T156I	possibly damaging	Het
Colec12	T	A	18: 9,874,813 (GRCm39)	D696E	probably benign	Het
Ctbp1	C	T	5: 33,408,330 (GRCm39)	E138K	probably damaging	Het
Cyp4a10	T	C	4: 115,382,589 (GRCm39)	I293T	probably damaging	Het
Dclk2	G	A	3: 86,827,342 (GRCm39)	P46S	probably damaging	Het
Dctn1	C	T	6: 83,166,938 (GRCm39)	T263I	probably damaging	Het
Ddx49	A	T	8: 70,748,094 (GRCm39)	V317E	probably damaging	Het
Edil3	G	A	13: 89,093,072 (GRCm39)		probably null	Het
Egflam	A	T	15: 7,267,285 (GRCm39)	V700E	possibly damaging	Het
Fam168b	A	G	1: 34,858,946 (GRCm39)		probably null	Het
Gigyf2	T	G	1: 87,301,835 (GRCm39)		probably null	Het
H1f2	C	G	13: 23,923,392 (GRCm39)	S187R	probably benign	Het
Heatr4	A	G	12: 84,026,514 (GRCm39)	S248P	probably benign	Het
Hoxd1	A	T	2: 74,594,524 (GRCm39)	I260F	possibly damaging	Het
Hsd3b3	A	T	3: 98,649,408 (GRCm39)	L305Q	probably damaging	Het
Itch	T	A	2: 155,052,379 (GRCm39)	C660S	possibly damaging	Het
Ivd	A	T	2: 118,701,981 (GRCm39)	I138F	probably benign	Het
Katnip	C	G	7: 125,459,738 (GRCm39)	H1189D	probably damaging	Het
Lcn4	G	T	2: 26,561,228 (GRCm39)	Q18K	possibly damaging	Het
Mapkbp1	T	C	2: 119,843,146 (GRCm39)	Y192H	probably damaging	Het
Mn1	T	C	5: 111,566,723 (GRCm39)	L231P	probably damaging	Het
Morc1	A	G	16: 48,386,009 (GRCm39)	D544G	probably benign	Het
Mthfd1	C	A	12: 76,344,293 (GRCm39)	T331K	probably damaging	Het
Myo18b	T	A	5: 113,021,423 (GRCm39)	Y546F	probably benign	Het
Nod1	T	C	6: 54,916,310 (GRCm39)	Y129C	probably damaging	Het
Nprl3	A	G	11: 32,182,973 (GRCm39)	V563A	probably damaging	Het
Or13a18	T	C	7: 140,190,498 (GRCm39)	Y140H	probably damaging	Het
Or4a80	A	T	2: 89,582,417 (GRCm39)	C252S	possibly damaging	Het
Or5g29	A	G	2: 85,421,766 (GRCm39)	N294S	probably damaging	Het
Or5p72	T	C	7: 108,022,389 (GRCm39)	F204L	probably benign	Het
Or8b1b	T	C	9: 38,375,537 (GRCm39)	S67P	probably damaging	Het
Orc3	T	A	4: 34,611,049 (GRCm39)		probably null	Het
Otog	T	C	7: 45,913,498 (GRCm39)	V777A	probably benign	Het
Pbxip1	G	T	3: 89,356,020 (GRCm39)	V711L	probably benign	Het
Pcdhb16	A	G	18: 37,611,316 (GRCm39)	D92G	probably damaging	Het
Phkb	T	A	8: 86,783,096 (GRCm39)	M964K	probably damaging	Het
Pitpnm2	T	A	5: 124,290,684 (GRCm39)	M1L	probably damaging	Het
Pkhd1	A	G	1: 20,269,683 (GRCm39)	V3287A	probably damaging	Het
Polq	T	A	16: 36,882,844 (GRCm39)	H1669Q	probably damaging	Het
Ppp4r4	T	C	12: 103,552,016 (GRCm39)	S195P	probably damaging	Het
Prdm2	T	C	4: 142,861,517 (GRCm39)	Y591C	probably damaging	Het
Rgsl1	T	A	1: 153,701,651 (GRCm39)	T268S	possibly damaging	Het
Scd2	A	T	19: 44,291,610 (GRCm39)	T350S	probably benign	Het
Scn7a	T	A	2: 66,518,091 (GRCm39)	Q1040L	possibly damaging	Het
Sdhb	T	A	4: 140,706,340 (GRCm39)	L259Q	probably damaging	Het
Senp6	A	G	9: 80,033,680 (GRCm39)	H701R	probably damaging	Het
Slc41a2	C	T	10: 83,140,167 (GRCm39)		probably null	Het
Slx4	T	C	16: 3,797,785 (GRCm39)	D1533G	probably damaging	Het
Spef2	T	C	15: 9,713,271 (GRCm39)	K367R	possibly damaging	Het
Sstr3	G	A	15: 78,424,711 (GRCm39)	T12M	probably benign	Het
Synj2	G	T	17: 6,047,221 (GRCm39)	E20D	probably damaging	Het
Tchh	G	T	3: 93,353,281 (GRCm39)	R907L	unknown	Het
Thsd1	A	G	8: 22,749,247 (GRCm39)	E645G	probably benign	Het
Tmem176b	A	T	6: 48,812,383 (GRCm39)	M194K	probably damaging	Het
Tmprss11f	T	C	5: 86,739,265 (GRCm39)		probably null	Het
Trim44	G	A	2: 102,230,722 (GRCm39)		probably benign	Het
Triml1	T	A	8: 43,583,642 (GRCm39)	R320W	probably damaging	Het
Trmt6	A	T	2: 132,648,829 (GRCm39)	C401*	probably null	Het
V1rd19	T	A	7: 23,702,726 (GRCm39)	L64*	probably null	Het
Vmn1r216	A	T	13: 23,283,661 (GRCm39)	R115W	probably damaging	Het
Vmn2r58	T	C	7: 41,509,924 (GRCm39)	N551S	probably damaging	Het
Vmn2r77	T	C	7: 86,450,921 (GRCm39)	V269A	probably benign	Het
Vps13d	A	T	4: 144,881,813 (GRCm39)	V1254D	probably benign	Het
Xpr1	T	C	1: 155,156,775 (GRCm39)		probably null	Het
Zan	T	A	5: 137,450,712 (GRCm39)	T1622S	unknown	Het
Zfp112	T	C	7: 23,826,176 (GRCm39)	Y715H	probably damaging	Het
Zfp750	G	A	11: 121,403,951 (GRCm39)	P308L	possibly 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
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'- AGGTGTGTTTTAGACTTACTTTCCC -3'
(R):5'- TGTAGTGTCATGTACTTCGCCC -3'

Sequencing Primer
(F):5'- GTTTTAGACTTACTTTCCCATAGGG -3'
(R):5'- ATGTACTTCGCCCGAGGATTC -3'

Posted On

2014-08-25