|Institutional Source||Beutler Lab|
|Gene Name||glutamyl-prolyl-tRNA synthetase|
|Synonyms||2410081F06Rik, 3010002K18Rik, Qprs|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R7988 (G1)|
|Chromosomal Location||185363044-185428360 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 185418348 bp (GRCm38)|
|Amino Acid Change||Tyrosine to Cysteine at position 1349 (Y1349C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000045841 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000046514]|
AA Change: Y1349C
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: Y1349C
|Coding Region Coverage||
|Validation Efficiency||100% (59/59)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a multifunctional aminoacyl-tRNA synthetase that catalyzes the aminoacylation of glutamic acid and proline tRNA species. Alternative splicing has been observed for this gene, but the full-length nature and biological validity of the variant have not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a phospho-mimetic allele exhibit normal body weight, life span and glucose metabolism. Mice homozygous for a phospho-deficient allele exhibit decrease body weight, enhanced lipolysis, altered glucose metabolism and increased energy expenditure. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Eprs||
(F):5'- CATTGGCAGATTTTAACTTCTGTATGG -3'
(R):5'- TTCTCCTTGAACCACCACAG -3'
(F):5'- ACTTCTGTATGGTTCATTATTGTAGG -3'
(R):5'- TGAACCACCACAGAGAGTAGTTTAAC -3'