|Institutional Source||Beutler Lab|
|Gene Name||creatine kinase, mitochondrial 2|
|Is this an essential gene?||Possibly non essential (E-score: 0.261)|
|Stock #||R8039 (G1)|
|Chromosomal Location||91853387-91876885 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 91863312 bp|
|Amino Acid Change||Histidine to Tyrosine at position 60 (H60Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022122 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022122]|
|Predicted Effect||possibly damaging
AA Change: H60Y
PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: H60Y
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mitochondrial creatine kinase (MtCK) is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Sarcomeric mitochondrial creatine kinase has 80% homology with the coding exons of ubiquitous mitochondrial creatine kinase. This gene contains sequences homologous to several motifs that are shared among some nuclear genes encoding mitochondrial proteins and thus may be essential for the coordinated activation of these genes during mitochondrial biogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: The hearts of mice homozygous for disruptions of this gene have hypertrophic and dilated left ventricles exhibit functional abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ckmt2||
(F):5'- ACCCACATGCAAGGTAGCTC -3'
(R):5'- CTTACTCAAGCCAAGACTTGTAGG -3'
(F):5'- GCAGGCCATAGTCTTACCTCATACG -3'
(R):5'- CAAGCCAAGACTTGTAGGTGTCTC -3'