Incidental Mutation 'IGL01468:Tas2r138'
ID 88160
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 # IGL01468
Quality Score
Status
Chromosome 6
Chromosomal Location 40589249-40590244 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40589410 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 279 (M279L)
Ref Sequence ENSEMBL: ENSMUSP00000075876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076565]
AlphaFold Q7TQA6
Predicted Effect probably benign
Transcript: ENSMUST00000076565
AA Change: M279L

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000075876
Gene: ENSMUSG00000058250
AA Change: M279L

DomainStartEndE-ValueType
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 G A 10: 79,839,711 (GRCm39) V781I probably benign Het
Aldh5a1 G T 13: 25,095,536 (GRCm39) probably benign Het
Arhgap12 T C 18: 6,057,576 (GRCm39) T435A probably benign Het
Atrnl1 G A 19: 57,688,144 (GRCm39) V870I probably benign Het
Cerkl A T 2: 79,173,559 (GRCm39) probably null Het
Cntnap2 T A 6: 47,248,305 (GRCm39) L13* probably null Het
Cr2 G A 1: 194,850,843 (GRCm39) P208S probably damaging Het
Dapk1 A G 13: 60,908,612 (GRCm39) D1075G probably benign Het
Dhx57 T A 17: 80,563,039 (GRCm39) K863* probably null Het
Dnaaf5 C A 5: 139,137,235 (GRCm39) probably null Het
Fbxw7 T A 3: 84,879,806 (GRCm39) I336K probably benign Het
Ftcd A G 10: 76,420,421 (GRCm39) D385G probably benign Het
Gm10153 T C 7: 141,743,778 (GRCm39) S117G unknown Het
Gzmb T C 14: 56,497,772 (GRCm39) Y156C probably benign Het
Herc3 T A 6: 58,831,880 (GRCm39) D83E probably benign Het
Kif2b A G 11: 91,467,191 (GRCm39) V364A probably damaging Het
Mknk2 A G 10: 80,503,498 (GRCm39) probably benign Het
Or7a36 A T 10: 78,819,696 (GRCm39) Q24L probably damaging Het
Pgm1 A T 4: 99,819,367 (GRCm39) N197I possibly damaging Het
Prss39 C T 1: 34,538,481 (GRCm39) probably benign Het
Shroom3 T C 5: 93,088,201 (GRCm39) V236A probably damaging Het
Slc17a8 C T 10: 89,427,883 (GRCm39) probably null Het
Slc24a3 A G 2: 145,455,500 (GRCm39) Y463C probably benign Het
Slc4a7 A G 14: 14,737,480 (GRCm38) E149G probably damaging Het
Synj1 G A 16: 90,807,060 (GRCm39) probably benign Het
Terb1 A G 8: 105,208,799 (GRCm39) probably benign Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Trmt5 C T 12: 73,327,878 (GRCm39) V442I probably benign Het
Tsc2 T C 17: 24,840,071 (GRCm39) I383V possibly damaging Het
Uchl4 A G 9: 64,142,998 (GRCm39) T160A possibly damaging Het
Vmn2r3 A T 3: 64,182,382 (GRCm39) M439K possibly damaging Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Vmn2r52 A T 7: 9,892,868 (GRCm39) L757Q probably damaging Het
Zfp518a T C 19: 40,904,475 (GRCm39) V1468A probably benign Het
Zxdc A T 6: 90,350,761 (GRCm39) E404V probably damaging Het
Other mutations in Tas2r138
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00550:Tas2r138 APN 6 40,589,520 (GRCm39) missense probably benign 0.07
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 2013-11-18