Mutagenetix > Incidental Mutation

Incidental Mutation 'R7161:Trpv5'

557575

Institutional Source

Beutler Lab

Gene Symbol

Trpv5

Ensembl Gene

ENSMUSG00000036899

Gene Name

transient receptor potential cation channel, subfamily V, member 5

Synonyms

ECaC1, CaT2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R7161 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41652173-41680769 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 41660536 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 370 (Y370*)

Ref Sequence

ENSEMBL: ENSMUSP00000031901 (fasta)

Gene Model

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

AlphaFold

P69744

Predicted Effect

probably null
Transcript: ENSMUST00000031901
AA Change: Y370*

SMART Domains

Protein: ENSMUSP00000031901
Gene: ENSMUSG00000036899
AA Change: Y370*

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
AA Change: Y321*

SMART Domains

Protein: ENSMUSP00000141421
Gene: ENSMUSG00000036899
AA Change: Y321*

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	A	2: 130,806,788	R258L	unknown	Het
Abca8a	T	A	11: 110,074,142	Q443L	probably benign	Het
Acad12	A	T	5: 121,607,373	M285K	probably damaging	Het
Afdn	T	A	17: 13,888,946	M1592K	possibly damaging	Het
Bpifb9b	A	T	2: 154,313,615	T345S	possibly damaging	Het
Bub1b	A	G	2: 118,626,053	E526G	probably damaging	Het
Car13	A	G	3: 14,645,208	D70G	probably benign	Het
Ccdc127	A	T	13: 74,352,877	L4F	probably damaging	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Ccr10	A	G	11: 101,174,278	I142T	probably benign	Het
Cep126	C	T	9: 8,087,399	V1005M	probably benign	Het
Chil6	A	G	3: 106,394,412	I124T	probably benign	Het
Coq8a	A	G	1: 180,170,341		probably null	Het
Ctf2	T	A	7: 127,719,304	K174N	probably damaging	Het
Dapk1	T	C	13: 60,696,395	V76A	possibly damaging	Het
Disp1	A	G	1: 183,087,625	M1077T	possibly damaging	Het
Dnah9	T	A	11: 65,855,372	K3972*	probably null	Het
Dusp7	T	A	9: 106,368,915	S40T	unknown	Het
Emg1	T	C	6: 124,705,749	T88A	probably benign	Het
Fbxo5	A	G	10: 5,802,043	V190A	possibly damaging	Het
Fbxw20	T	G	9: 109,225,980	D167A	probably damaging	Het
Fes	A	T	7: 80,380,861	V562E	probably damaging	Het
Foxj1	C	G	11: 116,332,408	G190R	probably damaging	Het
Gatsl2	C	A	5: 134,135,190	T75N	probably damaging	Het
Gdf15	T	G	8: 70,631,342	S91R	possibly damaging	Het
Gm4846	C	A	1: 166,487,010	V355F	probably damaging	Het
Herc4	T	A	10: 63,308,415	Y776N	probably benign	Het
Hspg2	G	A	4: 137,514,719	R588H	probably damaging	Het
Igkv6-25	T	A	6: 70,215,778	Y56*	probably null	Het
Itpr1	C	T	6: 108,386,640	A741V	probably damaging	Het
Kbtbd8	T	A	6: 95,126,696	I519K	probably benign	Het
Kcnh5	T	A	12: 74,897,709	Q922L	probably benign	Het
Kiss1r	T	C	10: 79,919,489	Y103H	probably damaging	Het
Knl1	A	G	2: 119,070,785	E989G	possibly damaging	Het
Lamc1	A	T	1: 153,226,454	L1466Q	probably damaging	Het
Lap3	C	T	5: 45,498,467	P138L	probably benign	Het
Lhx1	G	A	11: 84,519,872	P300S	probably damaging	Het
Mppe1	G	A	18: 67,229,771	A131V	probably benign	Het
Neb	A	T	2: 52,271,592	Y2063N	probably damaging	Het
Nfe2l1	A	G	11: 96,817,720	F740L	probably benign	Het
Nop10	A	G	2: 112,262,046	N8S	probably benign	Het
Olfr1097	A	C	2: 86,890,649	H175Q	probably benign	Het
Opalin	T	A	19: 41,069,935	T20S	possibly damaging	Het
Pask	C	T	1: 93,310,905	S1286N	probably benign	Het
Pcdhgc4	A	T	18: 37,815,663	E44V	probably damaging	Het
Pde1a	A	G	2: 79,865,214	M463T	probably benign	Het
Pde6a	A	T	18: 61,281,525	M714L	probably benign	Het
Pik3c2b	A	G	1: 133,106,112	E1618G	probably damaging	Het
Pou2f3	T	C	9: 43,139,363	N234S	probably damaging	Het
Ptprm	T	A	17: 66,809,627	T886S	probably benign	Het
Rab11fip3	C	A	17: 26,069,090	D30Y	probably benign	Het
Rassf10	A	T	7: 112,954,500	I103F	probably damaging	Het
Rfc4	A	G	16: 23,115,433	I206T	probably benign	Het
Rhcg	A	G	7: 79,617,441	F29S	probably damaging	Het
Sec11c	A	G	18: 65,812,732	I89V	probably benign	Het
Serac1	T	C	17: 6,065,076	D204G	probably damaging	Het
Serpinb3c	T	C	1: 107,273,162	N175S	probably null	Het
Slc25a19	C	T	11: 115,616,547	E250K	possibly damaging	Het
Slc9a8	A	T	2: 167,465,383	Y329F	possibly damaging	Het
Smagp	T	C	15: 100,636,245		probably benign	Het
Spats1	T	A	17: 45,449,169	Q268H	probably benign	Het
Spef2	T	C	15: 9,717,603	T219A	probably benign	Het
Spink13	A	G	18: 62,614,955	M11T	probably benign	Het
Susd1	T	C	4: 59,329,581	D669G	possibly damaging	Het
Svep1	A	G	4: 58,128,859	Y613H	possibly damaging	Het
Tcp10b	T	C	17: 13,081,746	*439Q	probably null	Het
Tmed2	T	A	5: 124,546,920	M133K	possibly damaging	Het
Ttn	A	G	2: 76,812,244	S13316P	probably damaging	Het
Uap1l1	A	T	2: 25,363,280	M381K	probably damaging	Het
Wdr26	A	G	1: 181,203,130	Y200H	probably damaging	Het
Wdr78	G	A	4: 103,096,616	P129S	probably benign	Het
Zfhx4	A	T	3: 5,244,083	M790L	possibly damaging	Het
Zscan25	T	C	5: 145,286,441	L173P	probably benign	Het

Other mutations in Trpv5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01349:Trpv5	APN	6	41675375	missense	possibly damaging	0.87
IGL01704:Trpv5	APN	6	41653258	missense	possibly damaging	0.88
IGL01860:Trpv5	APN	6	41660295	missense	probably damaging	1.00
IGL01950:Trpv5	APN	6	41675978	missense	probably benign	0.09
Firesign	UTSW	6	41658042	missense	probably damaging	1.00
gingame	UTSW	6	41670961	missense	probably damaging	1.00
R0515:Trpv5	UTSW	6	41674211	intron	probably benign
R1581:Trpv5	UTSW	6	41653140	missense	probably damaging	1.00
R1633:Trpv5	UTSW	6	41675920	nonsense	probably null
R1658:Trpv5	UTSW	6	41674282	missense	probably damaging	1.00
R1677:Trpv5	UTSW	6	41657797	missense	probably benign	0.44
R1955:Trpv5	UTSW	6	41657937	missense	probably damaging	1.00
R2008:Trpv5	UTSW	6	41659728	critical splice acceptor site	probably null
R2331:Trpv5	UTSW	6	41659968	missense	probably damaging	1.00
R2519:Trpv5	UTSW	6	41674350	missense	probably damaging	0.99
R2973:Trpv5	UTSW	6	41653231	missense	possibly damaging	0.81
R2974:Trpv5	UTSW	6	41653231	missense	possibly damaging	0.81
R3877:Trpv5	UTSW	6	41660343	missense	probably benign	0.10
R3923:Trpv5	UTSW	6	41653249	missense	probably benign	0.00
R4056:Trpv5	UTSW	6	41659705	missense	probably damaging	1.00
R4396:Trpv5	UTSW	6	41657896	missense	probably benign	0.00
R4757:Trpv5	UTSW	6	41653214	missense	probably damaging	0.98
R5013:Trpv5	UTSW	6	41659713	missense	probably damaging	1.00
R5039:Trpv5	UTSW	6	41675945	missense	possibly damaging	0.73
R5330:Trpv5	UTSW	6	41660332	missense	probably benign	0.06
R5331:Trpv5	UTSW	6	41660332	missense	probably benign	0.06
R6270:Trpv5	UTSW	6	41674359	missense	possibly damaging	0.94
R6405:Trpv5	UTSW	6	41674668	missense	probably damaging	1.00
R6575:Trpv5	UTSW	6	41675969	missense	probably benign
R6669:Trpv5	UTSW	6	41658042	missense	probably damaging	1.00
R6681:Trpv5	UTSW	6	41653354	missense	probably damaging	0.97
R6817:Trpv5	UTSW	6	41658007	missense	possibly damaging	0.65
R7021:Trpv5	UTSW	6	41653270	missense	probably benign	0.00
R7069:Trpv5	UTSW	6	41675960	missense	possibly damaging	0.94
R7241:Trpv5	UTSW	6	41675308	nonsense	probably null
R7505:Trpv5	UTSW	6	41674656	missense	probably damaging	0.99
R7806:Trpv5	UTSW	6	41674933	missense	probably damaging	0.99
R8060:Trpv5	UTSW	6	41674531	nonsense	probably null
R8407:Trpv5	UTSW	6	41675338	missense	probably benign	0.02
R8428:Trpv5	UTSW	6	41653248	missense	possibly damaging	0.48
R8435:Trpv5	UTSW	6	41670893	missense	probably damaging	1.00
R8762:Trpv5	UTSW	6	41675379	missense	probably benign	0.36
R8885:Trpv5	UTSW	6	41653258	missense	possibly damaging	0.88
R8896:Trpv5	UTSW	6	41670913	missense	probably damaging	1.00
R9566:Trpv5	UTSW	6	41660522	missense	probably null	1.00
R9594:Trpv5	UTSW	6	41670839	missense	probably benign
R9701:Trpv5	UTSW	6	41674660	missense	possibly damaging	0.82
Z1177:Trpv5	UTSW	6	41674321	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCACCAACTCTGAAGATGTC -3'
(R):5'- TGGGCTACACTGTGAAATCC -3'

Sequencing Primer
(F):5'- CCAACTCTGAAGATGTCTGGGATC -3'
(R):5'- GTGAAATCCTGTCTAATGAAGTGGC -3'

Posted On

2019-06-26