Incidental Mutation 'IGL00694:Tas2r120'
ID14371
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: 0.028) question?
Stock #IGL00694
Quality Score
Status
Chromosome6
Chromosomal Location132656953-132657844 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 132657275 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 107 (F107L)
Ref Sequence ENSEMBL: ENSMUSP00000071626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071707]
Predicted Effect probably benign
Transcript: ENSMUST00000071707
AA Change: F107L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000071626
Gene: ENSMUSG00000059382
AA Change: F107L

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931423N10Rik A T 2: 23,230,168 Q192L probably damaging Het
Adgrl4 T C 3: 151,439,396 probably benign Het
Aqr A T 2: 114,151,525 D259E probably damaging Het
Arl14ep A T 2: 106,967,192 F153L probably damaging Het
Asb15 G T 6: 24,570,664 R547L possibly damaging Het
Chd8 A C 14: 52,217,970 V1020G probably damaging Het
Coq2 C T 5: 100,655,314 S370N probably benign Het
Crebl2 T A 6: 134,849,195 S36R probably damaging Het
Cyp2c29 A T 19: 39,321,635 T263S possibly damaging Het
Edem1 T C 6: 108,841,601 I190T possibly damaging Het
Fbn2 T G 18: 58,037,809 E2170A possibly damaging Het
Gak T G 5: 108,613,634 *129C probably null Het
Gm13101 G T 4: 143,965,822 P203Q possibly damaging Het
Hc T C 2: 34,991,629 I1436V probably benign Het
Kmt2c A T 5: 25,293,161 F534I probably damaging Het
Mfhas1 G A 8: 35,590,771 R800Q probably benign Het
Npat A G 9: 53,563,517 T870A probably benign Het
Pde8a T C 7: 81,306,708 V285A possibly damaging Het
Slc25a26 T A 6: 94,534,223 I127N probably damaging Het
Spag1 A T 15: 36,227,171 E658V possibly damaging Het
St3gal2 A T 8: 110,969,581 H266L probably damaging Het
Sult6b2 A G 6: 142,790,289 I193T possibly damaging Het
Thoc1 A G 18: 9,989,744 D475G possibly damaging Het
Tpo T A 12: 30,105,994 R169S probably damaging Het
Zhx2 A G 15: 57,821,760 N175S probably benign Het
Other mutations in Tas2r120
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01725:Tas2r120 APN 6 132657089 nonsense probably null
IGL01860:Tas2r120 APN 6 132657264 missense probably damaging 0.99
IGL01891:Tas2r120 APN 6 132657844 makesense probably null
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
Posted On2012-12-06