|Institutional Source||Beutler Lab|
|Gene Name||cysteinyl-tRNA synthetase 2 (mitochondrial)(putative)|
|Synonyms||D530030H10Rik, 2310051N18Rik, 2410044A07Rik|
|Essential gene?||Probably essential (E-score: 0.961)|
|Stock #||R6267 (G1)|
|Chromosomal Location||11513977-11550783 bp(-) (GRCm38)|
|Type of Mutation||frame shift|
|DNA Base Change (assembly)||TCCCC to TCCC at 11529599 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000046453 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000049461] [ENSMUST00000210478] [ENSMUST00000210599]|
|AlphaFold||no structure available at present|
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a putative member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of cysteine to tRNA molecules. A splice-site mutation in this gene has been associated with a novel progressive myoclonic epilepsy disease with similar symptoms to MERRF syndrome. [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygous for an ENU-induced allele develop induced hyperactivity followed by head bobbing and tremors. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cars2||
(F):5'- TGACTTTACAGGCTGGAGTG -3'
(R):5'- CACATATTTTATAGCCTGAGGAGGG -3'
(F):5'- TGGTATGGTCAGTATGGTAAGATAC -3'
(R):5'- CCTGAGGAGGGCTGCGG -3'