Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00550:Tas2r138'

14375

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tas2r138

Ensembl Gene

ENSMUSG00000058250

Gene Name

taste receptor, type 2, member 138

Synonyms

T2R138, mt2r31, Tas2r38

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00550

Quality Score

Status

Chromosome

Chromosomal Location

40589249-40590244 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40589520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 242 (I242T)

Ref Sequence

ENSEMBL: ENSMUSP00000075876 (fasta)

Gene Model

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

AlphaFold

Q7TQA6

Predicted Effect

probably benign
Transcript: ENSMUST00000076565
AA Change: I242T

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000075876
Gene: ENSMUSG00000058250
AA Change: I242T

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

Coding Region Coverage

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: 6 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg13	A	T	2: 91,522,804 (GRCm39)	M80K	probably damaging	Het
Ccr1	T	C	9: 123,763,673 (GRCm39)	T286A	probably damaging	Het
Hoxd11	A	G	2: 74,514,385 (GRCm39)	D305G	probably damaging	Het
Nup85	A	G	11: 115,472,582 (GRCm39)	K213E	probably damaging	Het
Samd9l	G	T	6: 3,374,594 (GRCm39)	T889K	probably benign	Het
Zfp984	C	T	4: 147,839,343 (GRCm39)	G503S	probably benign	Het

Other mutations in Tas2r138

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9475:Tas2r138	UTSW	6	40,589,392 (GRCm39)	missense	probably benign	0.02

Posted On

2012-12-06