|Institutional Source||Beutler Lab|
|Gene Name||taste receptor, type 2, member 130|
|Synonyms||T2R30, mt2r42, STC 7-4, Tas2r30|
|Is this an essential gene?||Probably non essential (E-score: 0.069)|
|Stock #||R1552 (G1)|
|Chromosomal Location||131629823-131630912 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 131630167 bp|
|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
AA Change: Y222H
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: Y222H
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|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||
|Other mutations in Tas2r130||
(F):5'- GGTCTTTACTCTACAAAGCACCCTCAC -3'
(R):5'- AAGTGTCTGGTTTGCCACCTGC -3'
(F):5'- AGTTTACTACTCCCCAGGATGAGG -3'
(R):5'- CCAGTCACTGAAAATCTGAGTGATG -3'