|Institutional Source||Beutler Lab|
|Gene Name||glutamyl-prolyl-tRNA synthetase|
|Synonyms||2410081F06Rik, 3010002K18Rik, Qprs|
|Is this an essential gene?||Probably essential (E-score: 0.976)|
|Stock #||R2338 (G1)|
|Chromosomal Location||185363044-185428360 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 185415808 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 1256 (F1256L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000045841 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000046514]|
|Predicted Effect||probably damaging
AA Change: F1256L
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: F1256L
|Meta Mutation Damage Score||0.404|
|Coding Region Coverage||
|Validation Efficiency||98% (53/54)|
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'- CCGTGGTGGTTTATAACTCATCC -3'
(R):5'- TGATAAGCAGAGACACTTCCC -3'
(F):5'- GTGGTGGTTTATAACTCATCCTGCTC -3'
(R):5'- CTCACCTGGACAGATGCTACTCG -3'