Incidental Mutation 'IGL02182:Tas2r121'
ID 283291
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tas2r121
Ensembl Gene ENSMUSG00000071150
Gene Name taste receptor, type 2, member 121
Synonyms mGR21, T2R21, Tas2r21, mT2r48
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # IGL02182
Quality Score
Status
Chromosome 6
Chromosomal Location 132677053-132677970 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 132677133 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 280 (I280F)
Ref Sequence ENSEMBL: ENSMUSP00000093044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095395]
AlphaFold Q7M720
Predicted Effect probably damaging
Transcript: ENSMUST00000095395
AA Change: I280F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000093044
Gene: ENSMUSG00000071150
AA Change: I280F

DomainStartEndE-ValueType
Pfam:TAS2R 1 300 4.5e-108 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 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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T A 8: 44,104,790 (GRCm39) N285I probably benign Het
Adprh T C 16: 38,267,838 (GRCm39) H149R probably benign Het
Ahctf1 A G 1: 179,580,643 (GRCm39) V1853A probably benign Het
Ank1 T C 8: 23,603,868 (GRCm39) V905A possibly damaging Het
Atp10b T G 11: 43,139,774 (GRCm39) L1234R probably damaging Het
Bco1 G A 8: 117,859,805 (GRCm39) A503T probably damaging Het
Clxn T A 16: 14,738,659 (GRCm39) D163E probably damaging Het
Cpz T A 5: 35,675,066 (GRCm39) Y61F probably damaging Het
Dnah8 T A 17: 31,013,737 (GRCm39) M3826K possibly damaging Het
Dtd2 A G 12: 52,046,492 (GRCm39) S116P probably benign Het
Eml5 T C 12: 98,768,581 (GRCm39) D1498G probably damaging Het
Fat4 T C 3: 38,944,695 (GRCm39) V1196A probably damaging Het
Gm15557 T C 2: 155,783,737 (GRCm39) D405G probably damaging Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Mfsd11 T A 11: 116,764,740 (GRCm39) V388E possibly damaging Het
Ms4a20 A T 19: 11,074,436 (GRCm39) probably benign Het
Or10a3m A G 7: 108,313,075 (GRCm39) T160A probably benign Het
Or52b4 A G 7: 102,184,775 (GRCm39) I274V probably benign Het
Pik3cg A T 12: 32,255,272 (GRCm39) D238E possibly damaging Het
Plcb3 T C 19: 6,946,988 (GRCm39) H9R probably benign Het
Ppp3cc A C 14: 70,462,473 (GRCm39) V388G probably benign Het
Ranbp2 T A 10: 58,321,582 (GRCm39) C2626* probably null Het
Resp18 T C 1: 75,250,615 (GRCm39) T155A probably benign Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Scarb2 C T 5: 92,601,913 (GRCm39) S327N probably damaging Het
Secisbp2l T A 2: 125,589,497 (GRCm39) I684F probably damaging Het
Slc39a6 T C 18: 24,734,347 (GRCm39) D114G probably damaging Het
Smap1 T A 1: 23,898,180 (GRCm39) E85D probably damaging Het
Uhrf2 T C 19: 30,016,609 (GRCm39) V86A probably benign Het
Vip A T 10: 5,593,561 (GRCm39) Y91F probably benign Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zfp618 G A 4: 63,013,798 (GRCm39) probably benign Het
Other mutations in Tas2r121
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00559:Tas2r121 APN 6 132,677,484 (GRCm39) missense probably benign 0.28
IGL01868:Tas2r121 APN 6 132,677,235 (GRCm39) missense probably benign 0.00
IGL02728:Tas2r121 APN 6 132,677,480 (GRCm39) missense probably damaging 1.00
R0833:Tas2r121 UTSW 6 132,677,325 (GRCm39) missense probably damaging 1.00
R0836:Tas2r121 UTSW 6 132,677,325 (GRCm39) missense probably damaging 1.00
R1181:Tas2r121 UTSW 6 132,677,132 (GRCm39) missense probably damaging 1.00
R1424:Tas2r121 UTSW 6 132,677,645 (GRCm39) missense probably damaging 1.00
R1583:Tas2r121 UTSW 6 132,677,193 (GRCm39) nonsense probably null
R2179:Tas2r121 UTSW 6 132,677,831 (GRCm39) missense probably damaging 1.00
R4711:Tas2r121 UTSW 6 132,677,853 (GRCm39) missense probably benign 0.28
R5274:Tas2r121 UTSW 6 132,677,811 (GRCm39) missense probably damaging 1.00
R5308:Tas2r121 UTSW 6 132,677,480 (GRCm39) missense possibly damaging 0.84
R5663:Tas2r121 UTSW 6 132,677,520 (GRCm39) missense probably benign 0.10
R5668:Tas2r121 UTSW 6 132,677,756 (GRCm39) missense possibly damaging 0.95
R5885:Tas2r121 UTSW 6 132,677,254 (GRCm39) missense probably damaging 1.00
R6395:Tas2r121 UTSW 6 132,677,495 (GRCm39) missense probably benign 0.23
R7552:Tas2r121 UTSW 6 132,677,505 (GRCm39) missense probably benign 0.17
R8094:Tas2r121 UTSW 6 132,677,772 (GRCm39) missense probably benign
R9192:Tas2r121 UTSW 6 132,677,492 (GRCm39) missense probably benign 0.00
R9718:Tas2r121 UTSW 6 132,677,765 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16