Mutagenetix > Incidental Mutation

Incidental Mutation 'R9475:Tas2r138'

715701

Institutional Source

Beutler Lab

Gene Symbol

Tas2r138

Ensembl Gene

ENSMUSG00000058250

Gene Name

taste receptor, type 2, member 138

Synonyms

T2R138, mt2r31, Tas2r38

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9475 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40589249-40590244 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40589392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 285 (M285L)

Ref Sequence

ENSEMBL: ENSMUSP00000075876 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076565]

AlphaFold

Q7TQA6

Predicted Effect

probably benign
Transcript: ENSMUST00000076565
AA Change: M285L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000075876
Gene: ENSMUSG00000058250
AA Change: M285L

Domain	Start	End	E-Value	Type
Pfam:TAS2R	11	315	3.8e-64	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a seven-transmembrane G protein-coupled receptor that controls the ability to taste glucosinolates, a family of bitter-tasting compounds found in plants of the Brassica sp. Synthetic compounds phenylthiocarbamide (PTC) and 6-n-propylthiouracil (PROP) have been identified as ligands for this receptor and have been used to test the genetic diversity of this gene. Although several allelic forms of this gene have been identified worldwide, there are two predominant common forms (taster and non-taster) found outside of Africa. These alleles differ at three nucleotide positions resulting in amino acid changes in the protein (A49P, A262V, and V296I) with the amino acid combination PAV identifying the taster variant (and AVI identifying the non-taster variant). [provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	T	7: 45,665,892 (GRCm39)	W243R	probably damaging	Het
Ablim1	T	G	19: 57,227,612 (GRCm39)	K18Q	probably benign	Het
Adamts18	T	A	8: 114,504,570 (GRCm39)	N174Y	possibly damaging	Het
Afg2a	T	C	3: 37,486,058 (GRCm39)	V260A	probably benign	Het
Agbl2	A	G	2: 90,614,437 (GRCm39)	H23R	probably benign	Het
Akap6	T	G	12: 53,057,335 (GRCm39)	Y934D	probably damaging	Het
Alas1	C	T	9: 106,111,261 (GRCm39)	S635N	probably benign	Het
Ankrd24	A	G	10: 81,478,133 (GRCm39)		probably null	Het
Atp6v0a4	A	G	6: 38,037,917 (GRCm39)	L560P	probably damaging	Het
Cacng1	C	T	11: 107,607,118 (GRCm39)	V34M	possibly damaging	Het
Clcn3	C	T	8: 61,387,551 (GRCm39)	A233T	probably damaging	Het
Cntnap3	A	G	13: 64,946,949 (GRCm39)	F160S	probably damaging	Het
Ctnnd2	A	G	15: 30,881,276 (GRCm39)	S719G	probably damaging	Het
Exosc2	G	A	2: 31,564,755 (GRCm39)	V107I	probably benign	Het
Fam83b	C	A	9: 76,399,085 (GRCm39)	V673F	probably benign	Het
Fras1	T	C	5: 96,927,929 (GRCm39)	F3781L	probably damaging	Het
Gal3st1	T	A	11: 3,948,660 (GRCm39)	L289H	probably damaging	Het
Garem1	T	C	18: 21,281,370 (GRCm39)	I329V	probably benign	Het
Gli3	G	A	13: 15,900,296 (GRCm39)	G1228S	possibly damaging	Het
Gpbp1l1	T	C	4: 116,431,558 (GRCm39)	F72S	possibly damaging	Het
Hao1	T	A	2: 134,390,181 (GRCm39)	M53L	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Iqcm	A	G	8: 76,480,083 (GRCm39)	E347G	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kcnrg	A	G	14: 61,845,106 (GRCm39)	I49V	possibly damaging	Het
Lrrc8e	G	A	8: 4,285,346 (GRCm39)	G524S	probably benign	Het
Lrrn1	A	T	6: 107,545,261 (GRCm39)	Y353F	probably damaging	Het
Mdn1	A	G	4: 32,739,849 (GRCm39)	D3701G	possibly damaging	Het
Mtmr2	A	G	9: 13,716,767 (GRCm39)	T623A	probably benign	Het
Ndst4	C	A	3: 125,508,296 (GRCm39)	S287*	probably null	Het
Ntrk3	A	C	7: 77,952,480 (GRCm39)	M579R	probably benign	Het
Oas1a	G	A	5: 121,037,317 (GRCm39)	L237F	probably damaging	Het
Or2aj4	T	C	16: 19,385,270 (GRCm39)	D121G	probably benign	Het
Or5bw2	A	T	7: 6,573,818 (GRCm39)	Y276F	probably damaging	Het
Or7e166	T	C	9: 19,624,939 (GRCm39)	M272T	probably benign	Het
Paqr5	T	A	9: 61,863,507 (GRCm39)	I272F	probably damaging	Het
Pcdha11	T	A	18: 37,140,591 (GRCm39)	V740E	probably damaging	Het
Pdgfra	A	C	5: 75,328,588 (GRCm39)	N240T	possibly damaging	Het
Plbd2	G	A	5: 120,632,445 (GRCm39)	Q186*	probably null	Het
Plce1	G	A	19: 38,766,337 (GRCm39)	E2121K	possibly damaging	Het
Ppargc1a	C	A	5: 51,653,080 (GRCm39)	G161C	probably damaging	Het
Ptprk	T	C	10: 28,210,476 (GRCm39)	I166T	possibly damaging	Het
Rhox8	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	X: 36,966,991 (GRCm39)		probably benign	Het
Rpap2	T	A	5: 107,768,455 (GRCm39)	L431Q	probably damaging	Het
Rslcan18	T	A	13: 67,250,128 (GRCm39)	K160*	probably null	Het
Sema7a	T	C	9: 57,862,188 (GRCm39)	F180L	probably benign	Het
Sh2d3c	C	T	2: 32,643,039 (GRCm39)	L741F	probably damaging	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Skic2	A	T	17: 35,060,078 (GRCm39)	D897E	probably benign	Het
Skint6	C	T	4: 112,664,037 (GRCm39)		probably null	Het
Slc35f3	T	C	8: 127,108,993 (GRCm39)	S181P	probably damaging	Het
Slc4a9	A	T	18: 36,662,269 (GRCm39)	E127V	probably null	Het
Speg	C	T	1: 75,364,735 (GRCm39)	T372I	probably damaging	Het
Syce1l	A	G	8: 114,381,735 (GRCm39)	T204A	probably benign	Het
Tbc1d10a	G	C	11: 4,163,604 (GRCm39)	K285N	probably damaging	Het
Trim9	T	A	12: 70,393,228 (GRCm39)	M239L	probably benign	Het
Trp53bp1	A	G	2: 121,039,761 (GRCm39)	S1293P	probably benign	Het
Uaca	C	T	9: 60,779,498 (GRCm39)	T1295M	possibly damaging	Het
Ubald1	G	T	16: 4,693,433 (GRCm39)	Q161K	possibly damaging	Het
Ugt1a10	C	T	1: 88,143,982 (GRCm39)	R201C	probably damaging	Het
Vps45	T	G	3: 95,950,237 (GRCm39)	T231P	probably damaging	Het
Wdr17	A	T	8: 55,088,512 (GRCm39)	D1186E	probably benign	Het
Zfp534	G	A	4: 147,766,731 (GRCm39)	T8I	probably benign	Het
Zfp68	T	C	5: 138,605,517 (GRCm39)	N269D	probably benign	Het

Other mutations in Tas2r138

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00550:Tas2r138	APN	6	40,589,520 (GRCm39)	missense	probably benign	0.07
IGL01468:Tas2r138	APN	6	40,589,410 (GRCm39)	missense	probably benign	0.22
IGL02626:Tas2r138	APN	6	40,589,649 (GRCm39)	missense	possibly damaging	0.61
IGL03008:Tas2r138	APN	6	40,590,116 (GRCm39)	missense	probably damaging	1.00
R0595:Tas2r138	UTSW	6	40,589,799 (GRCm39)	missense	probably damaging	1.00
R2845:Tas2r138	UTSW	6	40,589,701 (GRCm39)	missense	probably benign	0.09
R2975:Tas2r138	UTSW	6	40,590,198 (GRCm39)	missense	probably benign	0.00
R4202:Tas2r138	UTSW	6	40,589,410 (GRCm39)	missense	possibly damaging	0.95
R4923:Tas2r138	UTSW	6	40,589,820 (GRCm39)	missense	possibly damaging	0.82
R5526:Tas2r138	UTSW	6	40,589,914 (GRCm39)	missense	probably benign	0.00
R6647:Tas2r138	UTSW	6	40,589,733 (GRCm39)	missense	possibly damaging	0.91
R6869:Tas2r138	UTSW	6	40,589,355 (GRCm39)	missense	probably damaging	1.00
R8781:Tas2r138	UTSW	6	40,589,850 (GRCm39)	missense	probably benign	0.00
R8786:Tas2r138	UTSW	6	40,589,611 (GRCm39)	missense	probably damaging	1.00
R9200:Tas2r138	UTSW	6	40,589,494 (GRCm39)	missense	probably damaging	1.00
R9258:Tas2r138	UTSW	6	40,590,129 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACATCAAGGAGAACGGATTCTAG -3'
(R):5'- GAGTGCTGGTTATCTCCCTG -3'

Sequencing Primer
(F):5'- AATTGGAAGTGTATTTGTGAGAAGC -3'
(R):5'- TCCCTGGGGAGTCACATGAG -3'

Posted On

2022-06-15