|Institutional Source||Beutler Lab|
|Gene Name||protein kinase, AMP-activated, alpha 1 catalytic subunit|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4398 (G1)|
|Chromosomal Location||5143861-5181899 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 5177161 bp|
|Amino Acid Change||Glutamine to Arginine at position 464 (Q464R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000063166 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000051186] [ENSMUST00000228218]|
|Predicted Effect||possibly damaging
AA Change: Q464R
PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
AA Change: Q464R
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
AA Change: Q455R
PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|Meta Mutation Damage Score||0.1975|
|Coding Region Coverage||
|Validation Efficiency||96% (53/55)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ser/thr protein kinase family. It is the catalytic subunit of the 5'-prime-AMP-activated protein kinase (AMPK). AMPK is a cellular energy sensor conserved in all eukaryotic cells. The kinase activity of AMPK is activated by the stimuli that increase the cellular AMP/ATP ratio. AMPK regulates the activities of a number of key metabolic enzymes through phosphorylation. It protects cells from stresses that cause ATP depletion by switching off ATP-consuming biosynthetic pathways. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased muscle cell glucose uptake. Mice homozygous for a different knock-out allele exhibit anemia, reticulocytosis, splenomegaly, increased erythrocyte turnover, and elevated plasma erythropoietin levels. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prkaa1||
(F):5'- AGAGCAATCAAGCAGTTGGATTATG -3'
(R):5'- GGCGCCATATGAAGCTTACTAC -3'
(F):5'- TAAGAAGGCAAGTGCTCTCTCTG -3'
(R):5'- GCGCCATATGAAGCTTACTACTTTGC -3'