|Institutional Source||Beutler Lab|
|Gene Name||protein kinase, AMP-activated, gamma 2 non-catalytic subunit|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0437 (G1)|
|Chromosomal Location||24862744-25100642 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 25028505 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Valine at position 49 (D49V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030784 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030784]|
AA Change: D49V
PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: D49V
|Meta Mutation Damage Score||0.2547|
|Coding Region Coverage||
|Validation Efficiency||100% (104/104)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] AMP-activated protein kinase (AMPK) is a heterotrimeric protein composed of a catalytic alpha subunit, a noncatalytic beta subunit, and a noncatalytic regulatory gamma subunit. Various forms of each of these subunits exist, encoded by different genes. AMPK is an important energy-sensing enzyme that monitors cellular energy status and functions by inactivating key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This gene is a member of the AMPK gamma subunit family. Mutations in this gene have been associated with Wolff-Parkinson-White syndrome, familial hypertrophic cardiomyopathy, and glycogen storage disease of the heart. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygous constitutively active mutants develop age related obesity caused by polyphagia, glucose intolerance and insulin resistance and exhibit slowing of heart rate. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prkag2||
(F):5'- TTAATCACCCTGTGAGGGGCACTG -3'
(R):5'- GGCTTGACGTTCTGAAAGGGAATGG -3'
(F):5'- CGTAAACTTGGAAGGGTGTCTC -3'
(R):5'- ttacaaagaggaacaaggggg -3'