Incidental Mutation 'IGL03146:Prkaa1'
ID 410910
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 # IGL03146
Quality Score
Chromosome 15
Chromosomal Location 5173343-5211380 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5198122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 146 (V146A)
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: V146A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000063166
Gene: ENSMUSG00000050697
AA Change: V146A

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 possibly damaging
Transcript: ENSMUST00000228218
AA Change: V137A

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
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
Adam5 T C 8: 25,294,519 (GRCm39) D360G probably damaging Het
Adam6a A T 12: 113,509,144 (GRCm39) T506S probably damaging Het
Adamts15 A G 9: 30,832,863 (GRCm39) V224A probably damaging Het
Arhgef12 G T 9: 42,885,866 (GRCm39) D1251E possibly damaging Het
Ccdc180 G T 4: 45,903,840 (GRCm39) probably benign Het
Ccdc85c G A 12: 108,173,395 (GRCm39) R387* probably null Het
Cfap57 T A 4: 118,456,216 (GRCm39) I493F probably damaging Het
Chst9 A G 18: 15,586,035 (GRCm39) I176T probably damaging Het
Clpx G T 9: 65,234,112 (GRCm39) V572L probably benign Het
Csmd3 T A 15: 47,744,873 (GRCm39) N1374I probably benign Het
Cyp2e1 T A 7: 140,350,134 (GRCm39) M273K probably benign Het
Ehbp1l1 T C 19: 5,770,061 (GRCm39) E414G probably benign Het
Ehd1 T C 19: 6,327,368 (GRCm39) F122L probably damaging Het
Fcho1 A G 8: 72,170,074 (GRCm39) probably benign Het
Fermt3 T C 19: 6,980,631 (GRCm39) E312G possibly damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
G3bp2 G A 5: 92,214,399 (GRCm39) R132C probably damaging Het
Inpp4b A T 8: 82,470,410 (GRCm39) I35F possibly damaging Het
Izumo3 T G 4: 92,033,276 (GRCm39) I107L probably damaging Het
Lama3 C A 18: 12,660,681 (GRCm39) Q484K possibly damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mapkbp1 T C 2: 119,828,955 (GRCm39) probably benign Het
Mast4 T C 13: 102,874,163 (GRCm39) N1735S probably benign Het
Or14a257 T C 7: 86,138,402 (GRCm39) D119G probably damaging Het
Or4c100 T A 2: 88,356,488 (GRCm39) M187K possibly damaging Het
Oxct1 T C 15: 4,130,630 (GRCm39) L374P probably damaging Het
Parp14 G A 16: 35,678,823 (GRCm39) Q382* probably null Het
Pax2 A G 19: 44,821,714 (GRCm39) probably benign Het
Ptprb C T 10: 116,164,032 (GRCm39) A900V probably benign Het
Rgs6 A T 12: 83,099,312 (GRCm39) D130V probably damaging Het
Ryr1 C A 7: 28,793,457 (GRCm39) R1344L probably benign Het
Scgb1b12 C A 7: 32,033,969 (GRCm39) D76E possibly damaging Het
Sel1l3 T A 5: 53,311,585 (GRCm39) E633D probably benign Het
Slc1a7 T A 4: 107,850,189 (GRCm39) I100N probably damaging Het
Slc25a35 A G 11: 68,859,678 (GRCm39) K64E possibly damaging Het
Spmip4 A T 6: 50,550,853 (GRCm39) V532E probably damaging Het
Stil C A 4: 114,881,612 (GRCm39) Q719K probably damaging Het
Stim1 T A 7: 102,070,562 (GRCm39) L265Q probably damaging Het
Tmem191 A G 16: 17,095,246 (GRCm39) E169G probably damaging Het
Tmem255b T C 8: 13,504,174 (GRCm39) L101P probably damaging Het
Trgv3 C A 13: 19,427,337 (GRCm39) Y73* probably null Het
Zfyve26 G A 12: 79,330,846 (GRCm39) Q458* probably null Het
Other mutations in Prkaa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01100:Prkaa1 APN 15 5,203,799 (GRCm39) missense probably damaging 1.00
IGL01797:Prkaa1 APN 15 5,198,187 (GRCm39) missense probably damaging 1.00
IGL02442:Prkaa1 APN 15 5,206,369 (GRCm39) missense probably damaging 1.00
IGL02890:Prkaa1 APN 15 5,206,567 (GRCm39) missense possibly damaging 0.91
IGL03396:Prkaa1 APN 15 5,206,131 (GRCm39) missense probably damaging 1.00
pressor UTSW 15 5,206,437 (GRCm39) missense probably damaging 1.00
R1439:Prkaa1 UTSW 15 5,194,225 (GRCm39) missense probably damaging 0.99
R1466:Prkaa1 UTSW 15 5,208,279 (GRCm39) missense probably benign
R1466:Prkaa1 UTSW 15 5,208,279 (GRCm39) missense probably benign
R1804:Prkaa1 UTSW 15 5,208,259 (GRCm39) missense probably benign 0.41
R1807:Prkaa1 UTSW 15 5,173,436 (GRCm39) missense probably damaging 1.00
R4381:Prkaa1 UTSW 15 5,206,289 (GRCm39) missense probably benign
R4398:Prkaa1 UTSW 15 5,206,642 (GRCm39) missense possibly damaging 0.58
R4579:Prkaa1 UTSW 15 5,190,082 (GRCm39) critical splice acceptor site probably null
R4689:Prkaa1 UTSW 15 5,208,177 (GRCm39) missense probably benign
R4832:Prkaa1 UTSW 15 5,190,101 (GRCm39) missense probably damaging 0.96
R4874:Prkaa1 UTSW 15 5,203,838 (GRCm39) missense probably benign 0.16
R4876:Prkaa1 UTSW 15 5,203,886 (GRCm39) missense probably benign 0.44
R5074:Prkaa1 UTSW 15 5,206,392 (GRCm39) missense possibly damaging 0.82
R5260:Prkaa1 UTSW 15 5,190,149 (GRCm39) missense probably damaging 1.00
R5563:Prkaa1 UTSW 15 5,199,437 (GRCm39) missense probably damaging 1.00
R5706:Prkaa1 UTSW 15 5,203,823 (GRCm39) missense probably benign 0.01
R6363:Prkaa1 UTSW 15 5,206,437 (GRCm39) missense probably damaging 1.00
R6825:Prkaa1 UTSW 15 5,173,432 (GRCm39) missense possibly damaging 0.91
R7090:Prkaa1 UTSW 15 5,206,611 (GRCm39) missense probably benign
R7921:Prkaa1 UTSW 15 5,206,632 (GRCm39) missense probably damaging 1.00
R7989:Prkaa1 UTSW 15 5,206,166 (GRCm39) missense probably damaging 1.00
R8289:Prkaa1 UTSW 15 5,206,563 (GRCm39) missense possibly damaging 0.88
R8314:Prkaa1 UTSW 15 5,208,354 (GRCm39) missense probably damaging 0.98
R9183:Prkaa1 UTSW 15 5,205,969 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02