Incidental Mutation 'R2356:Prkaa2'
ID 246918
Institutional Source Beutler Lab
Gene Symbol Prkaa2
Ensembl Gene ENSMUSG00000028518
Gene Name protein kinase, AMP-activated, alpha 2 catalytic subunit
Synonyms AMPKalpha2, 2310008I11Rik
MMRRC Submission 040338-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2356 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 104887071-104967087 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 104896918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000030243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030243]
AlphaFold Q8BRK8
Predicted Effect probably null
Transcript: ENSMUST00000030243
SMART Domains Protein: ENSMUSP00000030243
Gene: ENSMUSG00000028518

DomainStartEndE-ValueType
S_TKc 16 268 1.47e-103 SMART
Pfam:AdenylateSensor 401 501 6.4e-18 PFAM
low complexity region 511 527 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
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 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
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 G T 16: 20,379,249 (GRCm39) R705L probably benign Het
Adcy6 A T 15: 98,494,897 (GRCm39) probably null Het
Ank1 A T 8: 23,575,688 (GRCm39) T145S probably damaging Het
Aph1a T C 3: 95,801,544 (GRCm39) F21S probably benign Het
Apoa5 T A 9: 46,181,341 (GRCm39) V139E probably damaging Het
Arhgap44 T C 11: 64,900,851 (GRCm39) K595R probably damaging Het
Arhgap5 C T 12: 52,565,930 (GRCm39) P967L probably benign Het
Atp13a5 A T 16: 29,099,887 (GRCm39) I683N probably damaging Het
Cdc6 A G 11: 98,810,118 (GRCm39) T476A probably benign Het
Cdk10 T C 8: 123,955,908 (GRCm39) V199A probably damaging Het
Ces2h G A 8: 105,742,570 (GRCm39) C94Y probably damaging Het
Clcn1 G A 6: 42,268,559 (GRCm39) G155D probably damaging Het
Cxcr4 A G 1: 128,517,251 (GRCm39) Y135H probably damaging Het
Dapp1 A G 3: 137,643,510 (GRCm39) V184A possibly damaging Het
Dhrs7 A C 12: 72,699,155 (GRCm39) S276A probably benign Het
Dlg5 A G 14: 24,220,496 (GRCm39) probably null Het
Dnaaf1 T A 8: 120,315,026 (GRCm39) F278Y probably damaging Het
Dnaaf2 A G 12: 69,244,992 (GRCm39) F23S probably benign Het
En2 G T 5: 28,371,330 (GRCm39) probably benign Het
Erbb4 T A 1: 68,117,755 (GRCm39) M887L probably benign Het
Exoc5 T C 14: 49,253,738 (GRCm39) M482V probably benign Het
Foxk1 A G 5: 142,441,164 (GRCm39) I571V possibly damaging Het
Fry G A 5: 150,394,897 (GRCm39) G650D probably benign Het
Gm8225 T C 17: 26,762,378 (GRCm39) S190P probably damaging Het
Gpx5 G C 13: 21,475,538 (GRCm39) H63D possibly damaging Het
Ipo9 A T 1: 135,334,555 (GRCm39) S285T probably benign Het
Itga8 T C 2: 12,204,952 (GRCm39) H495R probably benign Het
Klf11 T C 12: 24,703,582 (GRCm39) S6P probably damaging Het
Krtap8-1 A T 16: 89,284,789 (GRCm39) Y3N possibly damaging Het
Krtap8-1 G T 16: 89,284,790 (GRCm39) Y2* probably null Het
Lama1 T A 17: 68,117,109 (GRCm39) L2468Q probably damaging Het
Lmo7 T C 14: 102,124,381 (GRCm39) L280S probably damaging Het
Matk G A 10: 81,097,377 (GRCm39) probably null Het
Mcmdc2 A G 1: 10,001,026 (GRCm39) T434A possibly damaging Het
Mst1r T A 9: 107,795,069 (GRCm39) L1283Q probably damaging Het
Muc21 A G 17: 35,932,563 (GRCm39) probably benign Het
Nbn T A 4: 15,970,863 (GRCm39) I282N probably damaging Het
Ncln A G 10: 81,328,756 (GRCm39) V174A probably benign Het
Nipa2 G A 7: 55,582,714 (GRCm39) H344Y probably benign Het
Nlrp4g A G 9: 124,349,306 (GRCm38) noncoding transcript Het
Or56b1 G T 7: 104,285,834 (GRCm39) E318* probably null Het
Or6c38 T C 10: 128,929,761 (GRCm39) I27M probably benign Het
Pik3r5 T C 11: 68,383,743 (GRCm39) S521P probably damaging Het
Pkhd1l1 C T 15: 44,396,415 (GRCm39) T1979M probably benign Het
Plekhn1 T G 4: 156,307,158 (GRCm39) D464A probably damaging Het
Ppp4r1 T A 17: 66,140,045 (GRCm39) Y648N probably damaging Het
Prkdc T A 16: 15,502,068 (GRCm39) H828Q probably benign Het
Prss40 A T 1: 34,598,984 (GRCm39) Y69* probably null Het
Prx C T 7: 27,207,284 (GRCm39) probably benign Het
Psmd11 T A 11: 80,319,530 (GRCm39) S7T possibly damaging Het
Psmd14 A T 2: 61,630,351 (GRCm39) H287L probably benign Het
Rcor1 T C 12: 111,076,226 (GRCm39) Y297H probably damaging Het
Rnf40 T G 7: 127,190,748 (GRCm39) V272G probably damaging Het
Serpina3f G T 12: 104,183,626 (GRCm39) E163* probably null Het
Setd4 G A 16: 93,387,871 (GRCm39) T205I probably damaging Het
Shroom1 A T 11: 53,357,274 (GRCm39) T646S probably benign Het
Smg8 G C 11: 86,976,554 (GRCm39) S342R probably benign Het
Spata31h1 A G 10: 82,119,789 (GRCm39) V4407A possibly damaging Het
Trhde T C 10: 114,237,421 (GRCm39) Y986C probably damaging Het
Tulp2 A T 7: 45,168,052 (GRCm39) T155S possibly damaging Het
Vmn1r212 A T 13: 23,068,120 (GRCm39) L71* probably null Het
Wnk2 A T 13: 49,192,644 (GRCm39) C2032* probably null Het
Zfp429 A G 13: 67,538,746 (GRCm39) Y233H probably benign Het
Zfp809 C A 9: 22,154,336 (GRCm39) T351K probably benign Het
Other mutations in Prkaa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01020:Prkaa2 APN 4 104,932,659 (GRCm39) missense probably damaging 1.00
IGL01350:Prkaa2 APN 4 104,909,109 (GRCm39) splice site probably null
IGL01474:Prkaa2 APN 4 104,906,529 (GRCm39) critical splice donor site probably null
IGL02149:Prkaa2 APN 4 104,897,285 (GRCm39) missense probably benign 0.01
IGL02187:Prkaa2 APN 4 104,904,363 (GRCm39) missense probably benign 0.10
IGL03185:Prkaa2 APN 4 104,896,918 (GRCm39) critical splice donor site probably null
R0004:Prkaa2 UTSW 4 104,904,288 (GRCm39) missense probably null 1.00
R1536:Prkaa2 UTSW 4 104,932,647 (GRCm39) missense probably damaging 1.00
R1588:Prkaa2 UTSW 4 104,908,420 (GRCm39) missense probably damaging 0.96
R1596:Prkaa2 UTSW 4 104,893,526 (GRCm39) missense probably damaging 1.00
R1920:Prkaa2 UTSW 4 104,893,950 (GRCm39) nonsense probably null
R2995:Prkaa2 UTSW 4 104,909,204 (GRCm39) missense probably damaging 1.00
R4037:Prkaa2 UTSW 4 104,908,444 (GRCm39) missense probably damaging 1.00
R4038:Prkaa2 UTSW 4 104,908,444 (GRCm39) missense probably damaging 1.00
R4039:Prkaa2 UTSW 4 104,908,444 (GRCm39) missense probably damaging 1.00
R4257:Prkaa2 UTSW 4 104,897,153 (GRCm39) missense probably benign 0.00
R4810:Prkaa2 UTSW 4 104,897,011 (GRCm39) missense probably damaging 1.00
R5387:Prkaa2 UTSW 4 104,897,374 (GRCm39) missense probably damaging 1.00
R5813:Prkaa2 UTSW 4 104,893,291 (GRCm39) makesense probably null
R6812:Prkaa2 UTSW 4 104,904,349 (GRCm39) missense probably benign
R7417:Prkaa2 UTSW 4 104,932,740 (GRCm39) missense probably benign 0.05
R8156:Prkaa2 UTSW 4 104,909,172 (GRCm39) missense probably benign 0.44
R8326:Prkaa2 UTSW 4 104,893,495 (GRCm39) missense possibly damaging 0.67
R9051:Prkaa2 UTSW 4 104,906,600 (GRCm39) nonsense probably null
R9422:Prkaa2 UTSW 4 104,909,195 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- ATGCTGGAAATCGAAATACGTC -3'
(R):5'- AAAGGATGCCGCCTCTCATC -3'

Sequencing Primer
(F):5'- TGGAAATCGAAATACGTCCCCAG -3'
(R):5'- GCCTCTCATCGCAGACAG -3'
Posted On 2014-10-30