|Institutional Source||Beutler Lab|
|Gene Name||protein kinase, AMP-activated, alpha 2 catalytic subunit|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4039 (G1)|
|Chromosomal Location||105029874-105109890 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 105051247 bp|
|Amino Acid Change||Asparagine to Aspartic acid at position 144 (N144D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030243 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030243]|
|Predicted Effect||probably damaging
AA Change: N144D
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: N144D
|Meta Mutation Damage Score||0.29|
|Coding Region Coverage||
|Validation Efficiency||98% (48/49)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a catalytic subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. Studies of the mouse counterpart suggest that this catalytic subunit may control whole-body insulin sensitivity and is necessary for maintaining myocardial energy homeostasis during ischemia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are hyperglycemic, hypoinsulinemic, and show glucose intolerance and insulin resistance. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prkaa2||
(F):5'- AAAGGCATGTTGAGTGGATCTG -3'
(R):5'- AGCTTTGGCAAGGTTTTAGC -3'
(F):5'- GAGTGGATCTGTCTTCTAGAAACCTC -3'
(R):5'- AGCTGGTTTGCTTTGTCTGAC -3'