Incidental Mutation 'R1552:Tas2r130'
ID170003
Institutional Source Beutler Lab
Gene Symbol Tas2r130
Ensembl Gene ENSMUSG00000054497
Gene Nametaste receptor, type 2, member 130
SynonymsT2R30, mt2r42, STC 7-4, Tas2r30
MMRRC Submission 039591-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #R1552 (G1)
Quality Score225
Status Validated
Chromosome6
Chromosomal Location131629823-131630912 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 131630167 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 222 (Y222H)
Ref Sequence ENSEMBL: ENSMUSP00000063954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067597]
Predicted Effect probably benign
Transcript: ENSMUST00000067597
AA Change: Y222H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000063954
Gene: ENSMUSG00000054497
AA Change: Y222H

DomainStartEndE-ValueType
Pfam:TAS2R 1 304 1.7e-110 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.7%
Validation Efficiency 97% (71/73)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810046K07Rik T A 9: 51,291,570 S95C probably damaging Het
Abcc5 T A 16: 20,398,867 I365F probably damaging Het
Abhd15 T C 11: 77,515,407 L70P probably damaging Het
Adam18 A C 8: 24,646,361 H381Q probably benign Het
Ankfy1 T C 11: 72,754,495 probably null Het
Arcn1 C T 9: 44,758,994 A112T probably damaging Het
Calhm1 C T 19: 47,141,201 R294H probably benign Het
Ccdc121 A G 1: 181,510,991 L132P probably damaging Het
Cdk5rap1 T C 2: 154,370,695 E81G probably benign Het
Cep170 T C 1: 176,782,494 probably benign Het
Cep350 C T 1: 155,910,738 R1454Q possibly damaging Het
Chrna3 C A 9: 55,015,908 E205D probably benign Het
Chst5 T C 8: 111,890,280 D236G probably damaging Het
Coro1a T C 7: 126,699,952 N367D probably benign Het
Cyp3a16 T C 5: 145,436,536 I474V probably benign Het
Cyth3 G A 5: 143,697,750 V87I probably benign Het
Dclk3 C A 9: 111,488,579 T761K probably damaging Het
Dvl2 T A 11: 70,006,372 M300K possibly damaging Het
Eefsec C T 6: 88,376,200 probably benign Het
Exog T C 9: 119,445,110 S54P unknown Het
Fasn A G 11: 120,818,558 S519P probably damaging Het
Gas8 G A 8: 123,520,646 A16T probably benign Het
Got2 A G 8: 95,869,494 S333P probably benign Het
Hadhb T A 5: 30,176,933 L287Q probably null Het
Ift57 A G 16: 49,759,353 T211A probably benign Het
Il1rap A G 16: 26,722,434 E475G possibly damaging Het
Ilkap A T 1: 91,384,594 D11E probably damaging Het
Impact T C 18: 12,984,280 S137P probably benign Het
Jarid2 T C 13: 44,911,199 V920A probably damaging Het
Kcnk18 A T 19: 59,235,458 H345L probably damaging Het
Kdm4d A T 9: 14,464,029 Y178N probably damaging Het
Klk1b1 A G 7: 43,969,343 Y48C probably damaging Het
Klra5 G T 6: 129,909,885 T60K probably damaging Het
Kng2 A T 16: 22,987,520 L643H probably damaging Het
Lamb3 A G 1: 193,330,759 probably null Het
Lingo2 A G 4: 35,708,315 V555A probably damaging Het
Mbd5 T C 2: 49,272,934 S251P probably damaging Het
Mc4r T C 18: 66,859,695 S116G probably benign Het
Mipol1 T C 12: 57,306,088 V71A possibly damaging Het
Myo15b A C 11: 115,866,635 S1104R probably benign Het
Nek1 T A 8: 61,006,737 D26E probably damaging Het
Neu1 C T 17: 34,932,113 probably benign Het
Npffr2 T C 5: 89,583,116 S302P possibly damaging Het
Olfr912 T C 9: 38,581,379 M34T probably benign Het
Palmd T A 3: 116,948,040 probably benign Het
Pcdh8 A T 14: 79,770,607 V172E probably benign Het
Pnpla6 C A 8: 3,522,403 Q291K probably damaging Het
Prkch T C 12: 73,702,546 F357L probably benign Het
Ptprj A T 2: 90,471,153 Y212N probably damaging Het
Reln G T 5: 21,960,378 H2061N probably benign Het
Rint1 T A 5: 23,800,658 S113T probably benign Het
Rnf38 G C 4: 44,142,468 probably null Het
Slc30a4 T A 2: 122,686,016 I374L probably benign Het
Slfn10-ps T C 11: 83,029,850 noncoding transcript Het
Smcp A T 3: 92,584,403 C46S unknown Het
Smu1 A C 4: 40,748,570 V240G probably damaging Het
Srsf5 A G 12: 80,949,745 probably benign Het
Stn1 T C 19: 47,536,373 probably null Het
Stx18 A G 5: 38,104,991 E63G probably damaging Het
Tescl G T 7: 24,333,333 P189Q probably benign Het
Tlr1 A G 5: 64,926,860 S125P probably damaging Het
Ugt2a2 G T 5: 87,462,021 D566E possibly damaging Het
Uhrf1bp1 T C 17: 27,890,071 F1088S possibly damaging Het
Unc13b A T 4: 43,237,144 T3405S probably damaging Het
Upf1 G A 8: 70,333,059 Q1046* probably null Het
Wwox T A 8: 114,445,350 Y61* probably null Het
Zfhx4 C T 3: 5,403,110 T2776M probably damaging Het
Zranb3 G A 1: 127,960,751 probably benign Het
Other mutations in Tas2r130
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00918:Tas2r130 APN 6 131630271 missense probably damaging 1.00
IGL01412:Tas2r130 APN 6 131630510 nonsense probably null
IGL01554:Tas2r130 APN 6 131630083 missense probably benign 0.44
IGL01789:Tas2r130 APN 6 131630155 missense probably damaging 1.00
R1848:Tas2r130 UTSW 6 131630597 missense probably benign 0.00
R2020:Tas2r130 UTSW 6 131630769 missense probably damaging 1.00
R2060:Tas2r130 UTSW 6 131630817 missense probably benign 0.00
R2518:Tas2r130 UTSW 6 131630073 missense probably damaging 0.98
R3810:Tas2r130 UTSW 6 131630829 start codon destroyed probably null 1.00
R5666:Tas2r130 UTSW 6 131630379 missense possibly damaging 0.82
R6225:Tas2r130 UTSW 6 131630584 small deletion probably benign
R7180:Tas2r130 UTSW 6 131630248 missense probably benign 0.00
R7284:Tas2r130 UTSW 6 131630307 missense probably benign 0.02
R7385:Tas2r130 UTSW 6 131630263 missense probably benign
R8424:Tas2r130 UTSW 6 131630827 missense probably benign 0.00
R8845:Tas2r130 UTSW 6 131630679 missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GGTCTTTACTCTACAAAGCACCCTCAC -3'
(R):5'- AAGTGTCTGGTTTGCCACCTGC -3'

Sequencing Primer
(F):5'- AGTTTACTACTCCCCAGGATGAGG -3'
(R):5'- CCAGTCACTGAAAATCTGAGTGATG -3'
Posted On2014-04-13