Incidental Mutation 'R2254:Tas2r120'
ID 241867
Institutional Source Beutler Lab
Gene Symbol Tas2r120
Ensembl Gene ENSMUSG00000059382
Gene Name taste receptor, type 2, member 120
Synonyms Tas2r20, mGR20, mt2r47, T2R20
MMRRC Submission 040254-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # R2254 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 132633920-132634807 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 132634572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 218 (Q218L)
Ref Sequence ENSEMBL: ENSMUSP00000071626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071707]
AlphaFold Q7M721
Predicted Effect probably benign
Transcript: ENSMUST00000071707
AA Change: Q218L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000071626
Gene: ENSMUSG00000059382
AA Change: Q218L

DomainStartEndE-ValueType
Pfam:TAS2R 1 294 2.4e-77 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 T C 13: 12,311,365 (GRCm39) E260G probably benign Het
AI429214 G T 8: 37,460,920 (GRCm39) D23Y possibly damaging Het
Alms1 A G 6: 85,596,830 (GRCm39) Y1021C probably damaging Het
Ang5 A G 14: 44,200,074 (GRCm39) D46G probably benign Het
Ano9 T A 7: 140,683,003 (GRCm39) D635V probably benign Het
Apob C T 12: 8,061,256 (GRCm39) T3246I possibly damaging Het
Arhgef25 T C 10: 127,025,390 (GRCm39) E63G probably benign Het
B3gnt4 A C 5: 123,649,342 (GRCm39) I236L probably damaging Het
Bmper T A 9: 23,292,759 (GRCm39) I356N possibly damaging Het
Capn3 A G 2: 120,331,732 (GRCm39) E614G probably benign Het
Ccdc90b T A 7: 92,221,776 (GRCm39) H118Q probably damaging Het
Cdcp3 G T 7: 130,824,634 (GRCm39) C243F probably damaging Het
Cdh2 A T 18: 16,776,985 (GRCm39) probably null Het
Chmp7 C T 14: 69,958,405 (GRCm39) V255I probably damaging Het
Dnhd1 T A 7: 105,352,979 (GRCm39) S2711T probably damaging Het
Gabrg1 T A 5: 70,939,707 (GRCm39) K137* probably null Het
Gdi2 T A 13: 3,604,400 (GRCm39) probably null Het
Glyr1 A G 16: 4,836,877 (GRCm39) V429A probably benign Het
Gm5938 T A X: 77,172,161 (GRCm39) probably null Het
Golt1b T C 6: 142,341,979 (GRCm39) L121P probably damaging Het
Gpi1 T C 7: 33,902,302 (GRCm39) N471S probably damaging Het
Ifi204 G A 1: 173,589,296 (GRCm39) T45M possibly damaging Het
Il18r1 A G 1: 40,530,380 (GRCm39) N369S possibly damaging Het
Kcnh1 G T 1: 192,187,722 (GRCm39) probably null Het
Kitl G A 10: 99,915,993 (GRCm39) probably null Het
Krt33a A T 11: 99,905,004 (GRCm39) D167E possibly damaging Het
Lax1 A G 1: 133,607,971 (GRCm39) S257P probably damaging Het
Lepr T C 4: 101,672,309 (GRCm39) I1111T probably benign Het
Lrrcc1 G A 3: 14,612,315 (GRCm39) R356H probably damaging Het
Map1a A G 2: 121,134,272 (GRCm39) D1458G possibly damaging Het
Med11 T C 11: 70,342,921 (GRCm39) probably null Het
Mtmr2 T C 9: 13,707,353 (GRCm39) Y230H possibly damaging Het
Nup93 T C 8: 94,954,485 (GRCm39) probably null Het
Or51ag1 A G 7: 103,155,271 (GRCm39) V294A probably damaging Het
Ovch2 A G 7: 107,389,402 (GRCm39) V342A probably benign Het
Ovgp1 A G 3: 105,894,228 (GRCm39) probably benign Het
Oxtr A T 6: 112,466,067 (GRCm39) L231Q probably damaging Het
Prap1 A G 7: 139,676,075 (GRCm39) T30A probably damaging Het
Scg2 G A 1: 79,414,217 (GRCm39) P169S probably damaging Het
Scube2 A G 7: 109,424,666 (GRCm39) V549A possibly damaging Het
Slc22a12 A T 19: 6,592,571 (GRCm39) V57D possibly damaging Het
Slc22a28 A C 19: 8,041,858 (GRCm39) C450G probably benign Het
Tbx15 A G 3: 99,259,190 (GRCm39) T354A possibly damaging Het
Trim24 A G 6: 37,935,612 (GRCm39) T868A probably benign Het
Ttn T A 2: 76,598,684 (GRCm39) M19410L possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Upb1 G A 10: 75,272,051 (GRCm39) R288H probably damaging Het
Wdr20rt T A 12: 65,273,007 (GRCm39) W56R probably damaging Het
Wdr62 T G 7: 29,967,328 (GRCm39) I309L probably damaging Het
Zer1 G A 2: 29,998,286 (GRCm39) L342F probably damaging Het
Zfp40 T C 17: 23,397,344 (GRCm39) D51G possibly damaging Het
Zfp64 G A 2: 168,768,662 (GRCm39) H317Y probably damaging Het
Other mutations in Tas2r120
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00694:Tas2r120 APN 6 132,634,238 (GRCm39) missense probably benign 0.01
IGL01725:Tas2r120 APN 6 132,634,052 (GRCm39) nonsense probably null
IGL01860:Tas2r120 APN 6 132,634,227 (GRCm39) missense probably damaging 0.99
IGL01891:Tas2r120 APN 6 132,634,807 (GRCm39) makesense probably null
PIT4519001:Tas2r120 UTSW 6 132,634,297 (GRCm39) missense probably benign
R0104:Tas2r120 UTSW 6 132,634,809 (GRCm39) splice site probably null
R0108:Tas2r120 UTSW 6 132,634,809 (GRCm39) splice site probably null
R0123:Tas2r120 UTSW 6 132,634,552 (GRCm39) nonsense probably null
R0225:Tas2r120 UTSW 6 132,634,552 (GRCm39) nonsense probably null
R1812:Tas2r120 UTSW 6 132,634,564 (GRCm39) missense probably benign 0.02
R3110:Tas2r120 UTSW 6 132,634,731 (GRCm39) missense probably damaging 1.00
R3112:Tas2r120 UTSW 6 132,634,731 (GRCm39) missense probably damaging 1.00
R4829:Tas2r120 UTSW 6 132,634,331 (GRCm39) missense probably benign 0.03
R5248:Tas2r120 UTSW 6 132,634,110 (GRCm39) missense probably damaging 0.97
R5372:Tas2r120 UTSW 6 132,634,446 (GRCm39) missense possibly damaging 0.54
R6379:Tas2r120 UTSW 6 132,634,773 (GRCm39) missense probably benign 0.00
R7015:Tas2r120 UTSW 6 132,634,128 (GRCm39) missense possibly damaging 0.48
R7615:Tas2r120 UTSW 6 132,634,773 (GRCm39) missense probably benign 0.00
R8004:Tas2r120 UTSW 6 132,634,390 (GRCm39) missense possibly damaging 0.82
R8796:Tas2r120 UTSW 6 132,634,081 (GRCm39) missense probably damaging 1.00
R9207:Tas2r120 UTSW 6 132,634,626 (GRCm39) nonsense probably null
R9250:Tas2r120 UTSW 6 132,633,954 (GRCm39) missense probably benign 0.02
R9792:Tas2r120 UTSW 6 132,634,528 (GRCm39) missense possibly damaging 0.93
Z1176:Tas2r120 UTSW 6 132,634,148 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGCATATCTTGGGATGGTGAAC -3'
(R):5'- TACAAGAATGACCTGCTGGG -3'

Sequencing Primer
(F):5'- GTATTCATGAAGGAAATGTGACCAC -3'
(R):5'- CTGGGTAGAAGGATCCAATTGTCAC -3'
Posted On 2014-10-16