Incidental Mutation 'IGL01860:Tas2r120'
ID178277
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tas2r120
Ensembl Gene ENSMUSG00000059382
Gene Nametaste receptor, type 2, member 120
Synonymsmt2r47, mGR20, Tas2r20, T2R20
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #IGL01860
Quality Score
Status
Chromosome6
Chromosomal Location132656953-132657844 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 132657264 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 103 (M103K)
Ref Sequence ENSEMBL: ENSMUSP00000071626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071707]
Predicted Effect probably damaging
Transcript: ENSMUST00000071707
AA Change: M103K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000071626
Gene: ENSMUSG00000059382
AA Change: M103K

DomainStartEndE-ValueType
Pfam:TAS2R 1 294 2.4e-77 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TAS2R46 belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). For further information on TAS2Rs, see MIM 604791.[supplied by OMIM, Sep 2009]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,952,416 N248Y possibly damaging Het
Adamts13 G A 2: 26,978,011 V128M probably damaging Het
Agl A T 3: 116,772,526 probably benign Het
Arfgef1 A T 1: 10,154,396 M1405K probably damaging Het
Atp6v1a G T 16: 44,099,956 L426M probably damaging Het
Cdc123 A G 2: 5,803,941 probably benign Het
Cept1 A G 3: 106,531,128 probably benign Het
Cipc T A 12: 86,960,273 D60E probably damaging Het
Exosc3 A G 4: 45,319,659 I121T probably benign Het
Fam155a A T 8: 9,207,831 V439E probably damaging Het
Fam26f A G 10: 34,126,565 V174A probably damaging Het
Fbln5 A G 12: 101,809,869 Y89H probably damaging Het
Fhod3 T A 18: 24,903,948 I154N probably damaging Het
Fhod3 T C 18: 24,897,681 F128L probably damaging Het
Fpgt T C 3: 155,086,846 T515A probably benign Het
Gas2l2 G A 11: 83,422,080 T802I probably benign Het
Gm10424 G A 5: 95,270,651 T162I probably benign Het
Gm10710 T A 3: 83,127,849 probably benign Het
Gm11639 T C 11: 104,690,921 S30P probably benign Het
Hdac4 A G 1: 91,933,695 M1051T probably benign Het
Heatr5b A G 17: 78,808,480 V849A probably damaging Het
Helb T C 10: 120,102,833 I579V probably damaging Het
Hspa1l A G 17: 34,978,811 I609V probably benign Het
Itgam C A 7: 128,070,943 Q136K probably benign Het
Kcnc1 T C 7: 46,428,130 L452P probably damaging Het
Ltbp4 T A 7: 27,319,646 T1083S probably damaging Het
Mki67 T C 7: 135,698,957 I1449M probably damaging Het
Mpp5 T C 12: 78,830,907 V531A possibly damaging Het
P2rx5 T A 11: 73,165,559 V103E probably damaging Het
Pappa A G 4: 65,205,092 D888G possibly damaging Het
Pcdhb21 G T 18: 37,514,905 M362I probably benign Het
Pde1a A G 2: 79,875,284 S333P probably damaging Het
Ppm1j A G 3: 104,784,092 T299A probably damaging Het
Ptdss2 A G 7: 141,152,836 E168G probably damaging Het
Rspry1 A G 8: 94,649,816 N322S probably benign Het
Slc7a9 T A 7: 35,457,060 V309E probably damaging Het
Slco6c1 A G 1: 97,075,823 probably benign Het
Tbxas1 T A 6: 38,948,627 F59I probably damaging Het
Tfpi A G 2: 84,444,034 S203P probably benign Het
Tram2 T C 1: 21,003,859 N285S possibly damaging Het
Trio T A 15: 27,846,810 D980V probably damaging Het
Trpv5 T A 6: 41,660,295 H419L probably damaging Het
Usp28 C T 9: 49,032,243 R361* probably null Het
Vmn1r6 T A 6: 57,002,689 L112* probably null Het
Vmn2r12 A T 5: 109,092,159 N179K probably benign Het
Vmn2r82 G T 10: 79,378,857 A225S probably benign Het
Zcchc4 A G 5: 52,808,356 Y334C probably damaging Het
Zfp609 T C 9: 65,702,834 E949G possibly damaging Het
Other mutations in Tas2r120
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00694:Tas2r120 APN 6 132657275 missense probably benign 0.01
IGL01725:Tas2r120 APN 6 132657089 nonsense probably null
IGL01891:Tas2r120 APN 6 132657844 makesense probably null
PIT4519001:Tas2r120 UTSW 6 132657334 missense probably benign
R0104:Tas2r120 UTSW 6 132657846 unclassified probably null
R0108:Tas2r120 UTSW 6 132657846 unclassified probably null
R0123:Tas2r120 UTSW 6 132657589 nonsense probably null
R0225:Tas2r120 UTSW 6 132657589 nonsense probably null
R1812:Tas2r120 UTSW 6 132657601 missense probably benign 0.02
R2254:Tas2r120 UTSW 6 132657609 missense probably benign
R3110:Tas2r120 UTSW 6 132657768 missense probably damaging 1.00
R3112:Tas2r120 UTSW 6 132657768 missense probably damaging 1.00
R4829:Tas2r120 UTSW 6 132657368 missense probably benign 0.03
R5248:Tas2r120 UTSW 6 132657147 missense probably damaging 0.97
R5372:Tas2r120 UTSW 6 132657483 missense possibly damaging 0.54
R6379:Tas2r120 UTSW 6 132657810 missense probably benign 0.00
R7015:Tas2r120 UTSW 6 132657165 missense possibly damaging 0.48
Posted On2014-05-07