Incidental Mutation 'IGL02442:Prkaa1'
ID 293475
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkaa1
Ensembl Gene ENSMUSG00000050697
Gene Name protein kinase, AMP-activated, alpha 1 catalytic subunit
Synonyms C130083N04Rik, AMPKalpha1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02442
Quality Score
Chromosome 15
Chromosomal Location 5143861-5181899 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 5176888 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 408 (H408Q)
Ref Sequence ENSEMBL: ENSMUSP00000063166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051186] [ENSMUST00000228218]
AlphaFold Q5EG47
Predicted Effect probably damaging
Transcript: ENSMUST00000051186
AA Change: H408Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063166
Gene: ENSMUSG00000050697
AA Change: H408Q

S_TKc 27 279 2.23e-103 SMART
low complexity region 305 318 N/A INTRINSIC
Pfam:AdenylateSensor 406 503 1.3e-15 PFAM
low complexity region 516 535 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150079
Predicted Effect probably damaging
Transcript: ENSMUST00000228218
AA Change: H399Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006E09Rik T C 11: 101,990,826 (GRCm38) V116A probably benign Het
Adap2 A G 11: 80,177,206 (GRCm38) E348G probably damaging Het
Ahnak G A 19: 9,004,016 (GRCm38) G888D probably damaging Het
Cdc45 C T 16: 18,798,729 (GRCm38) M200I probably benign Het
Csde1 T C 3: 103,054,819 (GRCm38) C649R probably benign Het
Cym A C 3: 107,214,285 (GRCm38) D230E probably damaging Het
Dnah1 A T 14: 31,287,878 (GRCm38) I1911N probably damaging Het
Fam60a A T 6: 148,928,507 (GRCm38) probably null Het
Fat1 A G 8: 44,950,323 (GRCm38) H37R probably benign Het
Ggt6 T C 11: 72,436,806 (GRCm38) V146A possibly damaging Het
Glud1 T A 14: 34,335,438 (GRCm38) L54* probably null Het
Grk6 A G 13: 55,458,937 (GRCm38) probably benign Het
Gsta4 G A 9: 78,209,165 (GRCm38) V219I probably benign Het
Gucy1a2 G A 9: 3,865,385 (GRCm38) V620M probably damaging Het
Hspe1 T C 1: 55,089,042 (GRCm38) probably benign Het
Icmt T C 4: 152,298,716 (GRCm38) V76A possibly damaging Het
Ifrd1 A G 12: 40,216,317 (GRCm38) probably benign Het
Lgals12 T C 19: 7,606,654 (GRCm38) probably benign Het
Lypla1 T C 1: 4,832,387 (GRCm38) probably benign Het
Map1b A T 13: 99,508,198 (GRCm38) W66R probably damaging Het
Matn3 T A 12: 8,967,678 (GRCm38) C443* probably null Het
Mup8 T A 4: 60,219,695 (GRCm38) R191W probably damaging Het
Mycbp2 T C 14: 103,314,375 (GRCm38) K140R probably benign Het
Ndfip1 C T 18: 38,447,736 (GRCm38) S66L probably damaging Het
Neu1 A G 17: 34,934,469 (GRCm38) I323V probably benign Het
Nup205 A T 6: 35,190,068 (GRCm38) T341S probably benign Het
Olfr1303 G A 2: 111,813,991 (GRCm38) T245I probably benign Het
Olfr1466 T A 19: 13,342,120 (GRCm38) C121S probably benign Het
Olfr1469 T A 19: 13,410,987 (GRCm38) N139K probably benign Het
Ovch2 T A 7: 107,796,548 (GRCm38) I88F possibly damaging Het
Pkd1 T A 17: 24,565,226 (GRCm38) S249T probably benign Het
Plekhg3 A T 12: 76,578,353 (GRCm38) Q1324L probably benign Het
Ppara T A 15: 85,801,143 (GRCm38) V431E probably benign Het
Sap25 T A 5: 137,641,995 (GRCm38) N108K probably benign Het
Setd5 A C 6: 113,110,380 (GRCm38) I81L possibly damaging Het
Sri T A 5: 8,062,411 (GRCm38) M78K probably damaging Het
Tyro3 A G 2: 119,808,868 (GRCm38) N352S probably benign Het
Ubr5 T A 15: 38,037,901 (GRCm38) E332V possibly damaging Het
Vmn2r19 G T 6: 123,309,662 (GRCm38) V85F possibly damaging Het
Vmn2r53 A T 7: 12,581,729 (GRCm38) V721D probably damaging Het
Vwa5a A G 9: 38,734,784 (GRCm38) M483V probably benign Het
Zfp786 T A 6: 47,821,367 (GRCm38) Q212H probably benign Het
Other mutations in Prkaa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01100:Prkaa1 APN 15 5,174,318 (GRCm38) missense probably damaging 1.00
IGL01797:Prkaa1 APN 15 5,168,706 (GRCm38) missense probably damaging 1.00
IGL02890:Prkaa1 APN 15 5,177,086 (GRCm38) missense possibly damaging 0.91
IGL03146:Prkaa1 APN 15 5,168,641 (GRCm38) missense probably damaging 0.99
IGL03396:Prkaa1 APN 15 5,176,650 (GRCm38) missense probably damaging 1.00
pressor UTSW 15 5,176,956 (GRCm38) missense probably damaging 1.00
R1439:Prkaa1 UTSW 15 5,164,744 (GRCm38) missense probably damaging 0.99
R1466:Prkaa1 UTSW 15 5,178,798 (GRCm38) missense probably benign
R1466:Prkaa1 UTSW 15 5,178,798 (GRCm38) missense probably benign
R1804:Prkaa1 UTSW 15 5,178,778 (GRCm38) missense probably benign 0.41
R1807:Prkaa1 UTSW 15 5,143,954 (GRCm38) missense probably damaging 1.00
R4381:Prkaa1 UTSW 15 5,176,808 (GRCm38) missense probably benign
R4398:Prkaa1 UTSW 15 5,177,161 (GRCm38) missense possibly damaging 0.58
R4579:Prkaa1 UTSW 15 5,160,601 (GRCm38) critical splice acceptor site probably null
R4689:Prkaa1 UTSW 15 5,178,696 (GRCm38) missense probably benign
R4832:Prkaa1 UTSW 15 5,160,620 (GRCm38) missense probably damaging 0.96
R4874:Prkaa1 UTSW 15 5,174,357 (GRCm38) missense probably benign 0.16
R4876:Prkaa1 UTSW 15 5,174,405 (GRCm38) missense probably benign 0.44
R5074:Prkaa1 UTSW 15 5,176,911 (GRCm38) missense possibly damaging 0.82
R5260:Prkaa1 UTSW 15 5,160,668 (GRCm38) missense probably damaging 1.00
R5563:Prkaa1 UTSW 15 5,169,956 (GRCm38) missense probably damaging 1.00
R5706:Prkaa1 UTSW 15 5,174,342 (GRCm38) missense probably benign 0.01
R6363:Prkaa1 UTSW 15 5,176,956 (GRCm38) missense probably damaging 1.00
R6825:Prkaa1 UTSW 15 5,143,950 (GRCm38) missense possibly damaging 0.91
R7090:Prkaa1 UTSW 15 5,177,130 (GRCm38) missense probably benign
R7921:Prkaa1 UTSW 15 5,177,151 (GRCm38) missense probably damaging 1.00
R7989:Prkaa1 UTSW 15 5,176,685 (GRCm38) missense probably damaging 1.00
R8289:Prkaa1 UTSW 15 5,177,082 (GRCm38) missense possibly damaging 0.88
R8314:Prkaa1 UTSW 15 5,178,873 (GRCm38) missense probably damaging 0.98
R9183:Prkaa1 UTSW 15 5,176,488 (GRCm38) missense probably damaging 1.00
Posted On 2015-04-16