|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 #||R4874 (G1)|
|Chromosomal Location||5143861-5181899 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 5174357 bp (GRCm38)|
|Amino Acid Change||Asparagine to Serine at position 249 (N249S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000063166 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000051186] [ENSMUST00000228218]|
AA Change: N249S
PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: N249S
AA Change: N240S
PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|Meta Mutation Damage Score||0.0726|
|Coding Region Coverage||
|Validation Efficiency||94% (51/54)|
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'- TTGAAGAGTGTTGACCGATGC -3'
(R):5'- CTGGTATCTAGAGACTCGAAAAGGTAG -3'
(F):5'- AAGAGTGTTGACCGATGCTTTTTG -3'
(R):5'- TGCTGTGCAATGGTAATACCACG -3'