Mutagenetix > Incidental Mutation

Incidental Mutation 'R5256:Trpm5'

399649

Institutional Source

Beutler Lab

Gene Symbol

Trpm5

Ensembl Gene

ENSMUSG00000009246

Gene Name

transient receptor potential cation channel, subfamily M, member 5

Synonyms

Ltrpc5, 9430099A16Rik, Mtr1

MMRRC Submission

042827-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R5256 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

142625266-142648379 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 142636040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 575 (Y575H)

Ref Sequence

ENSEMBL: ENSMUSP00000114302 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009390] [ENSMUST00000150867]

AlphaFold

Q9JJH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000009390
AA Change: Y575H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000009390
Gene: ENSMUSG00000009246
AA Change: Y575H

Domain	Start	End	E-Value	Type
Blast:ANK	382	411	2e-6	BLAST
transmembrane domain	644	666	N/A	INTRINSIC
Pfam:Ion_trans	736	989	1.2e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133027

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146075

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150589

Predicted Effect

probably damaging
Transcript: ENSMUST00000150867
AA Change: Y575H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114302
Gene: ENSMUSG00000009246
AA Change: Y575H

Domain	Start	End	E-Value	Type
Blast:ANK	382	411	2e-6	BLAST
transmembrane domain	644	666	N/A	INTRINSIC
transmembrane domain	731	753	N/A	INTRINSIC
transmembrane domain	811	833	N/A	INTRINSIC
transmembrane domain	872	894	N/A	INTRINSIC
transmembrane domain	952	974	N/A	INTRINSIC

Meta Mutation Damage Score

0.7752

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.8%

Validation Efficiency

97% (95/98)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the transient receptor potential (TRP) protein family, which is a diverse group of proteins with structural features typical of ion channels. This protein plays an important role in taste transduction, and has characteristics of a calcium-activated, non-selective cation channel that carries Na+, K+, and Cs+ ions equally well, but not Ca(2+) ions. It is activated by lower concentrations of intracellular Ca(2+), and inhibited by higher concentrations. It is also a highly temperature-sensitive, heat activated channel showing a steep increase of inward currents at temperatures between 15 and 35 degrees Celsius. This gene is located within the Beckwith-Wiedemann syndrome critical region-1 on chromosome 11p15.5, and has been shown to be imprinted, with exclusive expression from the paternal allele. [provided by RefSeq, Oct 2010]
PHENOTYPE: Homozygous mutant mice demonstrate abnormal taste perception, responding to sour and salty stimuli but not to sweet, or bitter stimuli. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730015C16Rik	C	A	4: 108,705,262 (GRCm39)		probably benign	Het
Actr1b	T	C	1: 36,739,173 (GRCm39)	H372R	probably benign	Het
Ampd2	C	A	3: 107,986,865 (GRCm39)		probably benign	Het
Anapc4	A	G	5: 53,020,936 (GRCm39)	S612G	probably benign	Het
Arhgef7	T	C	8: 11,850,811 (GRCm39)	L141P	probably damaging	Het
Atl1	A	G	12: 70,006,107 (GRCm39)	D471G	probably damaging	Het
Atrn	A	G	2: 130,787,939 (GRCm39)	D247G	probably benign	Het
Bag1	T	A	4: 40,948,022 (GRCm39)	R61W	probably damaging	Het
Card10	C	T	15: 78,662,451 (GRCm39)	R898H	probably damaging	Het
Cct6b	G	A	11: 82,655,046 (GRCm39)	A3V	probably damaging	Het
Cfap54	A	T	10: 92,770,953 (GRCm39)	L2097*	probably null	Het
Cfap54	T	C	10: 92,880,885 (GRCm39)		probably null	Het
Chd5	T	C	4: 152,456,554 (GRCm39)	F964L	probably benign	Het
Cog5	A	G	12: 31,936,204 (GRCm39)	T584A	probably benign	Het
Cpa2	T	A	6: 30,547,196 (GRCm39)	N157K	probably damaging	Het
Cpeb1	A	T	7: 81,001,587 (GRCm39)	M440K	probably damaging	Het
Cracr2a	G	A	6: 127,580,992 (GRCm39)	C56Y	probably damaging	Het
Ddb2	A	C	2: 91,067,073 (GRCm39)	L30R	probably damaging	Het
Dlk1	T	A	12: 109,425,697 (GRCm39)	I190N	probably damaging	Het
Dnaaf4	T	C	9: 72,879,362 (GRCm39)		probably null	Het
Dnajc13	T	A	9: 104,080,528 (GRCm39)	Y851F	possibly damaging	Het
Dop1a	T	A	9: 86,397,381 (GRCm39)	L895Q	probably damaging	Het
F7	G	A	8: 13,080,763 (GRCm39)	C122Y	probably damaging	Het
Frrs1	T	C	3: 116,696,749 (GRCm39)	V573A	possibly damaging	Het
Galnt2l	T	C	8: 122,997,175 (GRCm39)		probably benign	Het
Gm17541	A	T	12: 4,739,672 (GRCm39)		probably benign	Het
Gm5519	A	T	19: 33,800,576 (GRCm39)	H90L	probably damaging	Het
Gm5526	T	A	1: 45,896,569 (GRCm39)		noncoding transcript	Het
Gm5709	A	T	3: 59,509,971 (GRCm39)		noncoding transcript	Het
Golga4	T	A	9: 118,385,569 (GRCm39)	V869D	possibly damaging	Het
Grm7	A	T	6: 111,335,182 (GRCm39)	Q531L	probably benign	Het
Hnrnpu	C	A	1: 178,163,458 (GRCm39)	C265F	unknown	Het
Hoxd3	G	A	2: 74,577,211 (GRCm39)	V364I	possibly damaging	Het
Hspb8	T	C	5: 116,547,532 (GRCm39)	D150G	probably damaging	Het
Hydin	C	A	8: 111,313,855 (GRCm39)	N4244K	possibly damaging	Het
Ik	A	G	18: 36,881,926 (GRCm39)	D136G	probably benign	Het
Il11ra1	T	C	4: 41,767,932 (GRCm39)		probably benign	Het
Jph1	T	C	1: 17,161,622 (GRCm39)	I347V	probably benign	Het
Klk1	T	A	7: 43,870,985 (GRCm39)		probably benign	Het
Lmcd1	T	A	6: 112,265,087 (GRCm39)		probably benign	Het
Lnx1	C	T	5: 74,846,315 (GRCm39)	C45Y	probably damaging	Het
Macc1	T	A	12: 119,410,264 (GRCm39)	M344K	possibly damaging	Het
Madcam1	A	G	10: 79,500,779 (GRCm39)	E32G	possibly damaging	Het
Mat2a	T	C	6: 72,411,316 (GRCm39)	D383G	probably benign	Het
Mpst	T	A	15: 78,297,849 (GRCm39)	I289N	probably damaging	Het
Myh6	C	T	14: 55,190,118 (GRCm39)	R1055Q	probably damaging	Het
Myh7	T	C	14: 55,216,965 (GRCm39)	K1131E	probably damaging	Het
Ndrg3	A	T	2: 156,773,125 (GRCm39)		probably benign	Het
Nebl	A	G	2: 17,438,786 (GRCm39)	S209P	probably benign	Het
Nid2	A	G	14: 19,818,276 (GRCm39)		probably null	Het
Nup188	A	T	2: 30,220,761 (GRCm39)	S945C	probably damaging	Het
Or1j21	A	G	2: 36,683,685 (GRCm39)	M146V	probably benign	Het
Or5g23	C	T	2: 85,438,817 (GRCm39)	V146I	probably benign	Het
Or8c11	A	G	9: 38,289,213 (GRCm39)	N12S	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Patl2	A	G	2: 121,959,368 (GRCm39)	L32P	probably damaging	Het
Pcdh20	T	A	14: 88,705,813 (GRCm39)	M496L	probably benign	Het
Pdzd2	A	G	15: 12,373,028 (GRCm39)	V2369A	possibly damaging	Het
Pfn2	A	G	3: 57,754,812 (GRCm39)	V31A	probably damaging	Het
Plxna4	T	C	6: 32,228,007 (GRCm39)	N533S	probably benign	Het
Plxnb1	T	C	9: 108,943,661 (GRCm39)	F1916S	probably damaging	Het
Ppp4r3b	T	C	11: 29,138,293 (GRCm39)	F214L	probably benign	Het
Prox1	T	C	1: 189,893,638 (GRCm39)	D269G	probably benign	Het
Rapgef4	T	C	2: 71,864,378 (GRCm39)	F71S	probably damaging	Het
Rft1	A	G	14: 30,383,243 (GRCm39)	I94M	probably benign	Het
S100z	T	C	13: 95,615,127 (GRCm39)	I13V	probably damaging	Het
Serhl	T	A	15: 82,986,835 (GRCm39)	V117E	probably damaging	Het
Shroom1	G	A	11: 53,356,334 (GRCm39)	R336Q	probably benign	Het
Sik3	A	T	9: 46,123,552 (GRCm39)	Q1067L	probably damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc28a1	G	A	7: 80,771,869 (GRCm39)	V118M	probably damaging	Het
Slco1a6	T	A	6: 142,078,427 (GRCm39)	I153F	probably benign	Het
Ss18l1	T	C	2: 179,703,735 (GRCm39)	Y323H	unknown	Het
Susd4	G	T	1: 182,719,824 (GRCm39)	A480S	possibly damaging	Het
Syne3	A	T	12: 104,942,139 (GRCm39)	M1K	probably null	Het
Synpo2l	A	T	14: 20,711,082 (GRCm39)	S513T	probably benign	Het
Tat	A	T	8: 110,724,966 (GRCm39)	N388I	probably benign	Het
Tbc1d1	A	G	5: 64,439,352 (GRCm39)	Y619C	probably damaging	Het
Tbk1	G	A	10: 121,406,590 (GRCm39)	T216M	probably damaging	Het
Tns1	C	T	1: 74,034,585 (GRCm39)		probably benign	Het
Trbv5	T	C	6: 41,039,318 (GRCm39)	V9A	possibly damaging	Het
Ttn	A	T	2: 76,570,045 (GRCm39)	Y25203*	probably null	Het
Tubb3	C	A	8: 124,148,391 (GRCm39)	D441E	probably benign	Het
Usp33	T	A	3: 152,097,333 (GRCm39)	C850*	probably null	Het
Vdac1	G	A	11: 52,274,905 (GRCm39)		probably null	Het
Vmn1r232	T	C	17: 21,133,846 (GRCm39)	I251M	probably damaging	Het
Vmn2r11	T	G	5: 109,202,658 (GRCm39)	I140L	probably benign	Het
Vmn2r6	A	T	3: 64,464,263 (GRCm39)	N190K	probably benign	Het
Vps51	T	A	19: 6,120,518 (GRCm39)	H465L	probably benign	Het
Zfp318	T	G	17: 46,722,995 (GRCm39)	I1666S	probably benign	Het
Zfp446	C	T	7: 12,713,231 (GRCm39)	R90*	probably null	Het
Zgrf1	T	A	3: 127,396,094 (GRCm39)	F547I	probably damaging	Het

Other mutations in Trpm5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:Trpm5	APN	7	142,636,728 (GRCm39)	missense	probably benign	0.03
IGL00717:Trpm5	APN	7	142,627,727 (GRCm39)	missense	probably damaging	1.00
IGL01138:Trpm5	APN	7	142,628,306 (GRCm39)	missense	probably benign
IGL01590:Trpm5	APN	7	142,636,471 (GRCm39)	missense	probably damaging	0.99
IGL01603:Trpm5	APN	7	142,629,338 (GRCm39)	missense	probably benign	0.04
IGL01685:Trpm5	APN	7	142,636,091 (GRCm39)	missense	probably benign	0.05
IGL01878:Trpm5	APN	7	142,628,234 (GRCm39)	missense	probably damaging	1.00
IGL02533:Trpm5	APN	7	142,643,282 (GRCm39)	missense	probably benign	0.01
IGL02572:Trpm5	APN	7	142,641,613 (GRCm39)	splice site	probably benign
IGL02750:Trpm5	APN	7	142,628,221 (GRCm39)	missense	possibly damaging	0.89
IGL02862:Trpm5	APN	7	142,636,262 (GRCm39)	missense	probably damaging	1.00
R0032:Trpm5	UTSW	7	142,638,978 (GRCm39)	missense	probably damaging	1.00
R0238:Trpm5	UTSW	7	142,636,695 (GRCm39)	missense	probably damaging	1.00
R0238:Trpm5	UTSW	7	142,636,695 (GRCm39)	missense	probably damaging	1.00
R0239:Trpm5	UTSW	7	142,636,695 (GRCm39)	missense	probably damaging	1.00
R0239:Trpm5	UTSW	7	142,636,695 (GRCm39)	missense	probably damaging	1.00
R0334:Trpm5	UTSW	7	142,640,613 (GRCm39)	missense	probably benign	0.06
R0799:Trpm5	UTSW	7	142,632,088 (GRCm39)	missense	probably damaging	0.99
R1187:Trpm5	UTSW	7	142,628,206 (GRCm39)	missense	probably damaging	0.96
R1373:Trpm5	UTSW	7	142,640,579 (GRCm39)	splice site	probably benign
R1521:Trpm5	UTSW	7	142,636,626 (GRCm39)	missense	probably benign	0.00
R1603:Trpm5	UTSW	7	142,638,946 (GRCm39)	missense	probably benign	0.00
R1606:Trpm5	UTSW	7	142,638,908 (GRCm39)	nonsense	probably null
R2009:Trpm5	UTSW	7	142,641,475 (GRCm39)	missense	possibly damaging	0.58
R2437:Trpm5	UTSW	7	142,636,298 (GRCm39)	missense	probably benign	0.03
R2508:Trpm5	UTSW	7	142,642,656 (GRCm39)	missense	possibly damaging	0.80
R2516:Trpm5	UTSW	7	142,628,254 (GRCm39)	missense	probably damaging	1.00
R2985:Trpm5	UTSW	7	142,636,675 (GRCm39)	missense	probably damaging	0.99
R3036:Trpm5	UTSW	7	142,639,200 (GRCm39)	missense	probably benign	0.00
R3037:Trpm5	UTSW	7	142,639,200 (GRCm39)	missense	probably benign	0.00
R3688:Trpm5	UTSW	7	142,632,193 (GRCm39)	missense	probably damaging	0.98
R4156:Trpm5	UTSW	7	142,642,792 (GRCm39)	missense	probably benign	0.04
R4734:Trpm5	UTSW	7	142,636,522 (GRCm39)	missense	probably benign	0.04
R4811:Trpm5	UTSW	7	142,633,956 (GRCm39)	missense	probably damaging	1.00
R4814:Trpm5	UTSW	7	142,636,373 (GRCm39)	missense	possibly damaging	0.50
R4847:Trpm5	UTSW	7	142,641,500 (GRCm39)	missense	possibly damaging	0.89
R5055:Trpm5	UTSW	7	142,626,521 (GRCm39)	missense	probably benign	0.00
R5413:Trpm5	UTSW	7	142,634,705 (GRCm39)	missense	probably damaging	1.00
R5668:Trpm5	UTSW	7	142,626,966 (GRCm39)	missense	probably benign	0.39
R6133:Trpm5	UTSW	7	142,642,688 (GRCm39)	missense	probably damaging	0.98
R6242:Trpm5	UTSW	7	142,626,919 (GRCm39)	missense	probably benign
R6564:Trpm5	UTSW	7	142,626,507 (GRCm39)	missense	probably damaging	1.00
R6702:Trpm5	UTSW	7	142,623,055 (GRCm39)	unclassified	probably benign
R6703:Trpm5	UTSW	7	142,623,055 (GRCm39)	unclassified	probably benign
R6829:Trpm5	UTSW	7	142,623,166 (GRCm39)	unclassified	probably benign
R6940:Trpm5	UTSW	7	142,638,547 (GRCm39)	nonsense	probably null
R7337:Trpm5	UTSW	7	142,642,756 (GRCm39)	missense	probably benign	0.01
R7513:Trpm5	UTSW	7	142,635,572 (GRCm39)	missense	possibly damaging	0.84
R7560:Trpm5	UTSW	7	142,634,723 (GRCm39)	missense	probably damaging	1.00
R7801:Trpm5	UTSW	7	142,638,978 (GRCm39)	missense	probably damaging	1.00
R7961:Trpm5	UTSW	7	142,634,106 (GRCm39)	missense	probably benign	0.00
R8009:Trpm5	UTSW	7	142,634,106 (GRCm39)	missense	probably benign	0.00
R8189:Trpm5	UTSW	7	142,635,575 (GRCm39)	missense	probably benign	0.32
R8441:Trpm5	UTSW	7	142,626,171 (GRCm39)	missense	possibly damaging	0.75
R8507:Trpm5	UTSW	7	142,632,050 (GRCm39)	missense	probably damaging	1.00
R8825:Trpm5	UTSW	7	142,636,753 (GRCm39)	missense	possibly damaging	0.94
R9443:Trpm5	UTSW	7	142,638,860 (GRCm39)	missense	probably benign
R9577:Trpm5	UTSW	7	142,633,131 (GRCm39)	critical splice donor site	probably null
R9608:Trpm5	UTSW	7	142,633,148 (GRCm39)	missense	possibly damaging	0.83
R9647:Trpm5	UTSW	7	142,634,498 (GRCm39)	missense	possibly damaging	0.95
X0022:Trpm5	UTSW	7	142,636,779 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CCTTCTCCCTTGGGATTGTGAG -3'
(R):5'- CCACATACTTCTGGGCCATG -3'

Sequencing Primer
(F):5'- GGACTCTACCTCCCGGTCAG -3'
(R):5'- ACATACTTCTGGGCCATGGTGAG -3'

Posted On

2016-07-06