Mutagenetix > Incidental Mutation

Incidental Mutation 'R2508:Trpm5'

251540

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

040414-MU

Accession Numbers

Essential gene?

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

Stock #

R2508 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

142625266-142648379 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142642656 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 97 (Q97R)

Ref Sequence

ENSEMBL: ENSMUSP00000114302 (fasta)

Gene Model

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

AlphaFold

Q9JJH7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000009390
AA Change: Q97R

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000009390
Gene: ENSMUSG00000009246
AA Change: Q97R

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: ENSMUST00000146075

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150589

Predicted Effect

possibly damaging
Transcript: ENSMUST00000150867
AA Change: Q97R

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114302
Gene: ENSMUSG00000009246
AA Change: Q97R

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	C	T	8: 120,872,132 (GRCm39)	T20I	probably benign	Het
Adamts2	C	T	11: 50,679,516 (GRCm39)	T832I	possibly damaging	Het
Agbl1	G	A	7: 76,239,298 (GRCm39)		probably null	Het
Ankrd61	T	C	5: 143,833,894 (GRCm39)		probably benign	Het
Anpep	T	G	7: 79,488,039 (GRCm39)	Y506S	possibly damaging	Het
Aox1	T	A	1: 58,382,832 (GRCm39)	H1037Q	probably benign	Het
Auh	G	A	13: 53,052,755 (GRCm39)	R47*	probably null	Het
B4galt5	T	A	2: 167,148,558 (GRCm39)	M187L	probably benign	Het
Bub1	A	T	2: 127,643,343 (GRCm39)	D1000E	probably benign	Het
Cacna1f	T	G	X: 7,492,687 (GRCm39)		probably null	Het
Cdh3	T	C	8: 107,279,039 (GRCm39)	L667P	probably damaging	Het
Cenpe	A	T	3: 134,946,834 (GRCm39)	R1116S	possibly damaging	Het
Ces1b	T	A	8: 93,799,969 (GRCm39)	M136L	possibly damaging	Het
Cfap54	T	C	10: 92,833,236 (GRCm39)	E1130G	possibly damaging	Het
Chd9	C	T	8: 91,760,615 (GRCm39)	P2120L	probably benign	Het
Clu	T	C	14: 66,212,452 (GRCm39)	V135A	probably damaging	Het
Cmip	T	A	8: 118,163,432 (GRCm39)	S388T	probably benign	Het
Cnga1	C	T	5: 72,776,404 (GRCm39)	V20I	possibly damaging	Het
Cox4i1	T	A	8: 121,400,029 (GRCm39)	V51E	possibly damaging	Het
Crym	T	C	7: 119,801,050 (GRCm39)	N33S	probably benign	Het
Ctcf	T	A	8: 106,398,016 (GRCm39)	V434E	probably damaging	Het
Daam1	G	A	12: 72,021,997 (GRCm39)	D732N	probably damaging	Het
Dcaf13	A	G	15: 39,008,547 (GRCm39)	Y383C	probably benign	Het
Dock2	T	C	11: 34,262,485 (GRCm39)	T957A	probably benign	Het
Duox1	A	G	2: 122,163,619 (GRCm39)	D817G	probably benign	Het
Eif1ad16	T	C	12: 87,985,258 (GRCm39)	Y95C	probably damaging	Het
Fads3	A	G	19: 10,033,818 (GRCm39)	Y401C	probably damaging	Het
Fam72a	T	C	1: 131,456,592 (GRCm39)		probably null	Het
Fbxw21	C	A	9: 108,974,553 (GRCm39)	K322N	probably benign	Het
Fdxr	G	A	11: 115,162,806 (GRCm39)	T100I	probably damaging	Het
Galnt11	C	G	5: 25,452,610 (GRCm39)	P41A	probably damaging	Het
Glb1l	T	C	1: 75,178,473 (GRCm39)	T322A	probably damaging	Het
Gm6871	T	A	7: 41,197,414 (GRCm39)	T149S	probably benign	Het
Gpr26	C	T	7: 131,568,823 (GRCm39)	T56I	probably damaging	Het
Grik4	C	A	9: 42,533,438 (GRCm39)	G361C	probably damaging	Het
Gsr	T	G	8: 34,170,316 (GRCm39)	D200E	probably benign	Het
Igsf5	T	A	16: 96,165,247 (GRCm39)	D7E	probably benign	Het
Inpp5e	T	A	2: 26,289,355 (GRCm39)	I522F	probably damaging	Het
Insm2	C	A	12: 55,647,096 (GRCm39)	T280K	probably benign	Het
Itih4	T	C	14: 30,617,435 (GRCm39)	V585A	probably damaging	Het
Katnip	T	A	7: 125,394,515 (GRCm39)	V197D	probably benign	Het
Knl1	A	T	2: 118,888,849 (GRCm39)	R17*	probably null	Het
Lag3	G	T	6: 124,888,272 (GRCm39)	L15I	possibly damaging	Het
Lepr	T	A	4: 101,648,093 (GRCm39)	S861T	probably damaging	Het
Mcur1	A	T	13: 43,697,941 (GRCm39)	Y320N	probably damaging	Het
Mgam	A	T	6: 40,736,717 (GRCm39)	D872V	probably damaging	Het
Mlycd	T	C	8: 120,134,446 (GRCm39)		probably null	Het
Mpl	C	A	4: 118,312,954 (GRCm39)	C193F	probably damaging	Het
Mycbp2	C	A	14: 103,368,681 (GRCm39)	A4142S	probably damaging	Het
Myh1	T	A	11: 67,104,424 (GRCm39)	D993E	possibly damaging	Het
N4bp2	T	A	5: 65,947,404 (GRCm39)	D11E	probably benign	Het
Neb	T	C	2: 52,085,533 (GRCm39)	I1521V	probably benign	Het
Notch1	A	G	2: 26,355,485 (GRCm39)	V1744A	possibly damaging	Het
Numa1	T	C	7: 101,644,731 (GRCm39)	S236P	possibly damaging	Het
Or4p20	T	C	2: 88,253,800 (GRCm39)	T190A	possibly damaging	Het
Or6c66	T	A	10: 129,461,784 (GRCm39)	I49L	probably benign	Het
Or8k23	A	G	2: 86,186,708 (GRCm39)	L6P	possibly damaging	Het
Otogl	A	G	10: 107,710,361 (GRCm39)	L576P	probably damaging	Het
P2ry1	C	T	3: 60,910,900 (GRCm39)	T13M	probably damaging	Het
Pak6	A	T	2: 118,525,050 (GRCm39)	R559*	probably null	Het
Parvb	A	T	15: 84,182,171 (GRCm39)	M234L	probably benign	Het
Pcdha11	T	C	18: 37,145,907 (GRCm39)	V666A	possibly damaging	Het
Pde3b	T	A	7: 114,126,092 (GRCm39)	Y775*	probably null	Het
Pgam5	A	G	5: 110,413,869 (GRCm39)	L98P	probably damaging	Het
Phip	T	C	9: 82,797,392 (GRCm39)	H537R	possibly damaging	Het
Pkib	T	G	10: 57,604,205 (GRCm39)	D4E	probably damaging	Het
Plcb1	A	T	2: 135,102,428 (GRCm39)	I202F	probably benign	Het
Pold3	A	G	7: 99,770,590 (GRCm39)	V14A	probably damaging	Het
Prdm1	T	A	10: 44,322,803 (GRCm39)	T249S	probably benign	Het
Prpf39	T	A	12: 65,104,589 (GRCm39)	F551L	probably benign	Het
Prune2	A	G	19: 17,099,986 (GRCm39)	E1830G	probably benign	Het
Ralgapa1	G	A	12: 55,764,986 (GRCm39)	P889S	probably damaging	Het
Rassf2	A	T	2: 131,840,163 (GRCm39)		probably null	Het
Rnf185	A	G	11: 3,368,067 (GRCm39)	Y204H	probably benign	Het
Rpap1	A	G	2: 119,610,535 (GRCm39)		probably null	Het
Rufy3	T	C	5: 88,797,757 (GRCm39)	S645P	probably damaging	Het
Scn11a	T	A	9: 119,594,595 (GRCm39)	Y1266F	probably damaging	Het
Senp7	T	A	16: 55,971,725 (GRCm39)	H287Q	probably benign	Het
Sgsm3	T	C	15: 80,888,073 (GRCm39)		probably null	Het
Slc25a11	A	T	11: 70,536,658 (GRCm39)	V104E	possibly damaging	Het
Slc25a13	G	A	6: 6,117,190 (GRCm39)	T175I	probably benign	Het
Slc26a3	T	A	12: 31,520,902 (GRCm39)	F702Y	probably damaging	Het
Smco2	T	A	6: 146,761,465 (GRCm39)	L184H	probably damaging	Het
Ssc4d	A	T	5: 135,994,461 (GRCm39)	C90S	probably damaging	Het
Sspo	T	C	6: 48,441,298 (GRCm39)	S1835P	probably damaging	Het
Stk35	A	G	2: 129,643,435 (GRCm39)	T140A	probably damaging	Het
Syngr1	C	T	15: 79,995,941 (GRCm39)	T160M	probably damaging	Het
Tent2	A	G	13: 93,320,726 (GRCm39)	L109S	probably damaging	Het
Tgfb1i1	A	G	7: 127,848,085 (GRCm39)		probably null	Het
Thoc1	T	A	18: 9,977,947 (GRCm39)	V296E	probably damaging	Het
Timp2	C	T	11: 118,201,412 (GRCm39)	C75Y	probably damaging	Het
Tlr1	T	C	5: 65,082,639 (GRCm39)	Y646C	probably damaging	Het
Tprn	G	A	2: 25,158,940 (GRCm39)	E655K	possibly damaging	Het
Trbv14	A	C	6: 41,112,424 (GRCm39)	I74L	probably benign	Het
Trbv5	T	A	6: 41,039,555 (GRCm39)	Y53*	probably null	Het
Tut1	A	G	19: 8,932,931 (GRCm39)	D88G	probably damaging	Het
Ucp2	A	T	7: 100,147,620 (GRCm39)	I200F	probably benign	Het
Unc45a	G	A	7: 79,988,623 (GRCm39)	S131L	probably benign	Het
Uty	A	T	Y: 1,158,182 (GRCm39)	H573Q	probably damaging	Het
Vmn1r17	T	A	6: 57,337,855 (GRCm39)	Y121F	possibly damaging	Het
Vmn1r53	T	C	6: 90,200,554 (GRCm39)	I257V	probably benign	Het
Vmn2r90	C	T	17: 17,954,229 (GRCm39)	L798F	probably damaging	Het
Vmn2r94	A	T	17: 18,477,736 (GRCm39)	M225K	probably benign	Het
Wdr24	A	T	17: 26,043,273 (GRCm39)	I32F	possibly damaging	Het
Zc3h11a	T	A	1: 133,552,521 (GRCm39)	T529S	probably benign	Het
Zc3h4	A	G	7: 16,168,264 (GRCm39)	H791R	unknown	Het
Zfp24	A	G	18: 24,150,927 (GRCm39)	L73P	probably damaging	Het
Zfp616	T	C	11: 73,974,121 (GRCm39)	I130T	probably benign	Het
Zim1	ACAGCAG	ACAGCAGCAG	7: 6,680,429 (GRCm39)		probably benign	Het
Zim1	CAG	CAGAAG	7: 6,680,430 (GRCm39)		probably benign	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
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
R5256:Trpm5	UTSW	7	142,636,040 (GRCm39)	missense	probably damaging	1.00
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'- TAACCACTTCTGCAATGAGAGAG -3'
(R):5'- TTTGTGAAGGTGCCAAGCAG -3'

Sequencing Primer
(F):5'- GGAGTTACAAGCAGCTTCCAGC -3'
(R):5'- GTGCCAAGCAGTGTGGC -3'

Posted On

2014-12-04