Mutagenetix > Incidental Mutation

Incidental Mutation 'R7143:Tas2r140'

553539

Institutional Source

Beutler Lab

Gene Symbol

Tas2r140

Ensembl Gene

ENSMUSG00000071147

Gene Name

taste receptor, type 2, member 140

Synonyms

TRB5, mt2r64, Tas2r40, Tas2r13, mTRB3, TRB3, T2R40

MMRRC Submission

045222-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R7143 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

133031818-133032756 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133032482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 92 (I92T)

Ref Sequence

ENSEMBL: ENSMUSP00000093040 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095391]

AlphaFold

Q7TQA4

Predicted Effect

probably benign
Transcript: ENSMUST00000095391
AA Change: I92T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000093040
Gene: ENSMUSG00000071147
AA Change: I92T

Domain	Start	End	E-Value	Type
Pfam:TAS2R	1	301	6.7e-86	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	C	T	7: 103,708,422 (GRCm39)	C129Y	probably damaging	Het
Agbl4	A	G	4: 111,474,333 (GRCm39)	N374S	probably damaging	Het
Agl	A	G	3: 116,585,670 (GRCm39)	S153P	probably damaging	Het
Akap6	T	G	12: 52,934,147 (GRCm39)	D546E	probably benign	Het
Ankrd17	C	A	5: 90,433,820 (GRCm39)	A650S	possibly damaging	Het
Ankrd53	A	G	6: 83,739,893 (GRCm39)	R16G	possibly damaging	Het
Apba2	T	C	7: 64,394,165 (GRCm39)	L570P	probably damaging	Het
Asap1	A	G	15: 64,063,377 (GRCm39)	F101L	probably damaging	Het
Cadm4	T	A	7: 24,198,992 (GRCm39)	I89N	possibly damaging	Het
Cadps	C	T	14: 12,491,838 (GRCm38)	V771I	probably benign	Het
Cenph	A	G	13: 100,898,285 (GRCm39)	V206A	possibly damaging	Het
Cenpn	A	G	8: 117,663,966 (GRCm39)	T253A	probably benign	Het
Cep120	C	T	18: 53,816,457 (GRCm39)	G939R	probably benign	Het
Cfap57	G	A	4: 118,477,906 (GRCm39)		probably benign	Het
Clip1	T	C	5: 123,791,673 (GRCm39)	I166V	probably benign	Het
Cstf3	T	A	2: 104,476,961 (GRCm39)	V144E	probably benign	Het
Cyp21a1	T	A	17: 35,021,300 (GRCm39)	H357L	probably damaging	Het
Cyth3	T	A	5: 143,670,151 (GRCm39)	V12E	unknown	Het
Dgat2	T	C	7: 98,806,331 (GRCm39)	I289V	probably benign	Het
Dip2a	A	G	10: 76,133,625 (GRCm39)	C527R	probably damaging	Het
Dnah17	A	C	11: 117,976,956 (GRCm39)	W1879G	probably damaging	Het
Dnai2	A	G	11: 114,645,076 (GRCm39)	T504A	possibly damaging	Het
Efl1	C	T	7: 82,411,888 (GRCm39)	P759L	probably damaging	Het
Egfr	A	C	11: 16,821,627 (GRCm39)	I351L	probably benign	Het
Ercc6	G	A	14: 32,292,262 (GRCm39)	E1209K	probably damaging	Het
Fam135b	A	T	15: 71,351,000 (GRCm39)	M292K	probably benign	Het
Fbxl7	C	A	15: 26,543,244 (GRCm39)	V468L	probably benign	Het
Fhl2	G	T	1: 43,181,011 (GRCm39)	H60N	probably damaging	Het
G6pc1	G	T	11: 101,261,549 (GRCm39)	R83L	probably damaging	Het
Gata4	C	A	14: 63,442,066 (GRCm39)	R252L	probably damaging	Het
Glt8d1	T	A	14: 30,728,602 (GRCm39)	I10N	probably damaging	Het
Gm10803	T	A	2: 93,394,304 (GRCm39)	Y25*	probably null	Het
Gm19345	T	C	7: 19,591,759 (GRCm39)	F108S	unknown	Het
Gm4952	A	G	19: 12,595,771 (GRCm39)	T54A	possibly damaging	Het
Gprc6a	C	T	10: 51,490,986 (GRCm39)	R921H	probably benign	Het
Hc	A	T	2: 34,940,450 (GRCm39)	H129Q	probably benign	Het
Heatr5a	T	C	12: 52,008,251 (GRCm39)	R31G	probably benign	Het
Hephl1	T	C	9: 14,972,106 (GRCm39)	K945E	possibly damaging	Het
Ik	G	T	18: 36,884,230 (GRCm39)	M237I	probably damaging	Het
Izumo1	T	A	7: 45,276,519 (GRCm39)	S361T	probably benign	Het
Kcnq4	A	G	4: 120,568,436 (GRCm39)	F427L	probably benign	Het
Kifap3	T	A	1: 163,683,609 (GRCm39)	M430K	possibly damaging	Het
Kifap3	A	T	1: 163,653,428 (GRCm39)	N338I	possibly damaging	Het
Lamb3	A	G	1: 192,986,873 (GRCm39)	E53G	probably damaging	Het
Lrp1b	A	T	2: 41,202,655 (GRCm39)	I1266K		Het
Nat8	A	T	6: 85,807,485 (GRCm39)	I216K	probably benign	Het
Ncapd2	T	C	6: 125,156,524 (GRCm39)	I454V	probably benign	Het
Nlrp4f	A	T	13: 65,343,120 (GRCm39)	V153E	probably damaging	Het
Nlrp4f	G	C	13: 65,347,166 (GRCm39)	Q9E	possibly damaging	Het
Npy2r	A	T	3: 82,448,250 (GRCm39)	I175N	probably benign	Het
Nutm1	G	A	2: 112,080,401 (GRCm39)	R505C	probably damaging	Het
Or1l4b	A	G	2: 37,036,886 (GRCm39)	T221A	probably benign	Het
Or4a74	T	C	2: 89,440,363 (GRCm39)	M28V	probably benign	Het
Or52n3	C	T	7: 104,530,393 (GRCm39)	P160S	probably damaging	Het
Pcdh9	T	C	14: 94,125,708 (GRCm39)	N154S	probably damaging	Het
Pcdhb2	A	T	18: 37,428,934 (GRCm39)	E302D	probably benign	Het
Pclo	T	A	5: 14,908,836 (GRCm39)	V5048E	unknown	Het
Pcnt	A	G	10: 76,224,894 (GRCm39)	L1870S	possibly damaging	Het
Pigc	T	C	1: 161,798,161 (GRCm39)	Y48H	probably damaging	Het
Pisd	C	T	5: 32,895,846 (GRCm39)	V241I	possibly damaging	Het
Pkhd1l1	A	T	15: 44,437,033 (GRCm39)	M3464L	possibly damaging	Het
Pofut2	T	A	10: 77,095,260 (GRCm39)	I35N	probably benign	Het
Prss27	A	G	17: 24,264,632 (GRCm39)	Y265C	probably damaging	Het
Prss56	T	A	1: 87,115,875 (GRCm39)	I583K	probably benign	Het
Rnpep	T	C	1: 135,211,487 (GRCm39)	E87G	probably benign	Het
Shtn1	T	C	19: 59,007,338 (GRCm39)	H304R	probably damaging	Het
Slc23a4	A	T	6: 34,955,848 (GRCm39)	I62N	probably damaging	Het
Slc35e2	A	T	4: 155,703,051 (GRCm39)	I355F	probably benign	Het
Snx25	T	C	8: 46,488,752 (GRCm39)	I868V	possibly damaging	Het
Spatc1l	T	A	10: 76,405,765 (GRCm39)	L323Q	probably damaging	Het
Speer4a2	T	A	5: 26,290,674 (GRCm39)	I166F	probably benign	Het
Taok1	A	G	11: 77,428,814 (GRCm39)	V962A	probably benign	Het
Trim17	C	A	11: 58,856,010 (GRCm39)	Y22*	probably null	Het
Tti1	T	A	2: 157,849,596 (GRCm39)	M548L	probably benign	Het
Unc93b1	T	C	19: 3,985,204 (GRCm39)	V4A	unknown	Het
Utp3	G	C	5: 88,702,376 (GRCm39)		probably benign	Het
Vmn1r225	A	T	17: 20,722,646 (GRCm39)	Y29F	probably benign	Het
Vmn1r34	A	T	6: 66,614,648 (GRCm39)	I30N	probably benign	Het
Vmn2r67	T	A	7: 84,801,846 (GRCm39)	M152L	probably benign	Het
Wdr20rt	T	G	12: 65,272,692 (GRCm39)	F52V	probably benign	Het
Zfp869	G	T	8: 70,159,306 (GRCm39)	H422Q	probably damaging	Het

Other mutations in Tas2r140

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Tas2r140	APN	6	40,468,274 (GRCm39)	missense	probably benign	0.20
IGL00951:Tas2r140	APN	6	40,468,913 (GRCm39)	nonsense	probably null
IGL00980:Tas2r140	APN	6	40,468,352 (GRCm39)	missense	possibly damaging	0.60
IGL02055:Tas2r140	APN	6	40,468,493 (GRCm39)	missense	probably damaging	1.00
IGL03101:Tas2r140	APN	6	40,468,764 (GRCm39)	missense	probably benign	0.03
R0149:Tas2r140	UTSW	6	40,468,232 (GRCm39)	missense	probably benign	0.08
R0244:Tas2r140	UTSW	6	133,032,290 (GRCm39)	missense	possibly damaging	0.46
R0361:Tas2r140	UTSW	6	40,468,232 (GRCm39)	missense	probably benign	0.08
R0666:Tas2r140	UTSW	6	133,032,405 (GRCm39)	missense	probably benign	0.22
R0755:Tas2r140	UTSW	6	40,468,344 (GRCm39)	missense	probably damaging	0.99
R1174:Tas2r140	UTSW	6	133,031,834 (GRCm39)	missense	probably benign	0.27
R1237:Tas2r140	UTSW	6	133,032,171 (GRCm39)	missense	probably benign	0.04
R1553:Tas2r140	UTSW	6	133,032,471 (GRCm39)	missense	probably damaging	0.99
R2030:Tas2r140	UTSW	6	133,032,213 (GRCm39)	missense	probably benign	0.23
R2030:Tas2r140	UTSW	6	40,469,154 (GRCm39)	missense	possibly damaging	0.58
R3123:Tas2r140	UTSW	6	133,032,204 (GRCm39)	missense	probably benign	0.05
R3124:Tas2r140	UTSW	6	133,032,204 (GRCm39)	missense	probably benign	0.05
R4233:Tas2r140	UTSW	6	133,031,915 (GRCm39)	missense	probably damaging	1.00
R4234:Tas2r140	UTSW	6	133,031,915 (GRCm39)	missense	probably damaging	1.00
R4236:Tas2r140	UTSW	6	133,031,915 (GRCm39)	missense	probably damaging	1.00
R4525:Tas2r140	UTSW	6	133,032,207 (GRCm39)	missense	possibly damaging	0.66
R4803:Tas2r140	UTSW	6	133,032,743 (GRCm39)	missense	possibly damaging	0.77
R4840:Tas2r140	UTSW	6	133,032,528 (GRCm39)	missense	probably benign	0.01
R4885:Tas2r140	UTSW	6	40,468,334 (GRCm39)	missense	probably damaging	0.98
R5092:Tas2r140	UTSW	6	40,468,200 (GRCm39)	missense	probably benign
R5182:Tas2r140	UTSW	6	40,468,866 (GRCm39)	missense	probably benign	0.01
R5317:Tas2r140	UTSW	6	133,032,543 (GRCm39)	missense	probably benign	0.06
R5937:Tas2r140	UTSW	6	133,032,236 (GRCm39)	missense	probably benign	0.01
R5952:Tas2r140	UTSW	6	40,468,476 (GRCm39)	missense	probably benign	0.43
R6142:Tas2r140	UTSW	6	133,032,698 (GRCm39)	missense	probably damaging	1.00
R7127:Tas2r140	UTSW	6	133,031,922 (GRCm39)	missense	possibly damaging	0.62
R7178:Tas2r140	UTSW	6	133,032,623 (GRCm39)	missense	probably damaging	1.00
R7494:Tas2r140	UTSW	6	40,468,254 (GRCm39)	missense	probably damaging	0.99
R7513:Tas2r140	UTSW	6	40,469,084 (GRCm39)	missense	probably damaging	1.00
R7875:Tas2r140	UTSW	6	40,469,097 (GRCm39)	missense	probably damaging	1.00
R7979:Tas2r140	UTSW	6	40,468,601 (GRCm39)	missense	probably damaging	1.00
R8804:Tas2r140	UTSW	6	133,032,326 (GRCm39)	missense	probably damaging	0.98
R9029:Tas2r140	UTSW	6	133,032,181 (GRCm39)	missense	possibly damaging	0.69
R9055:Tas2r140	UTSW	6	133,032,380 (GRCm39)	missense	possibly damaging	0.77
R9257:Tas2r140	UTSW	6	40,468,592 (GRCm39)	missense	probably damaging	0.98
R9385:Tas2r140	UTSW	6	133,032,241 (GRCm39)	missense	probably benign	0.03
R9530:Tas2r140	UTSW	6	133,032,494 (GRCm39)	missense	probably benign	0.00
R9760:Tas2r140	UTSW	6	40,469,036 (GRCm39)	missense	probably benign	0.41
X0022:Tas2r140	UTSW	6	40,468,275 (GRCm39)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- TCTGAATGAGAACTGTAGGACG -3'
(R):5'- AACATTATGGACTGGGCCAAG -3'

Sequencing Primer
(F):5'- GAATGAGAACTGTAGGACGTATTTAC -3'
(R):5'- CCAAGAGAAGAAAGATCTCCTTAGTG -3'

Posted On

2019-05-15