Incidental Mutation 'IGL02187:Prkaa2'
ID283679
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkaa2
Ensembl Gene ENSMUSG00000028518
Gene Nameprotein kinase, AMP-activated, alpha 2 catalytic subunit
Synonyms2310008I11Rik, AMPKalpha2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02187
Quality Score
Status
Chromosome4
Chromosomal Location105029874-105109890 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 105047166 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 238 (N238S)
Ref Sequence ENSEMBL: ENSMUSP00000030243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030243]
Predicted Effect probably benign
Transcript: ENSMUST00000030243
AA Change: N238S

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000030243
Gene: ENSMUSG00000028518
AA Change: N238S

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
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 C A 8: 113,713,194 E922D possibly damaging Het
Asxl3 T A 18: 22,524,978 M2015K probably damaging Het
C8a C A 4: 104,862,736 R15L probably damaging Het
Catsperg2 A G 7: 29,721,366 V47A probably benign Het
Ccdc84 C T 9: 44,410,787 probably benign Het
Cdhr2 C T 13: 54,733,710 T1081I possibly damaging Het
Cep85 T A 4: 134,131,305 M752L possibly damaging Het
Cxcr3 T A X: 101,732,877 S60C probably damaging Het
Cyp24a1 T A 2: 170,494,093 N208I probably damaging Het
Cyp2c38 A G 19: 39,436,205 I223T probably benign Het
Dennd6a A G 14: 26,606,926 I35V probably benign Het
Emb T G 13: 117,268,971 probably benign Het
Fbxo3 T C 2: 104,027,950 Y30H probably damaging Het
Fnbp1l G A 3: 122,568,800 R120* probably null Het
Galnt2 T C 8: 124,305,506 probably benign Het
Gckr T C 5: 31,307,424 probably benign Het
Gpr101 A G X: 57,501,481 F103S probably damaging Het
Gprasp1 T A X: 135,799,163 V35E probably damaging Het
Ift80 C A 3: 68,985,456 W133L probably damaging Het
Impdh1 C A 6: 29,207,087 probably benign Het
Ino80 T C 2: 119,445,457 probably benign Het
Kansl1 A T 11: 104,378,831 probably null Het
Klhl20 C T 1: 161,109,710 V32I probably benign Het
Lrfn3 A G 7: 30,355,964 S519P probably damaging Het
Mrpl51 A G 6: 125,193,331 N100S probably benign Het
Mybpc3 T C 2: 91,135,452 I1203T probably benign Het
Nbr1 A G 11: 101,569,359 I394V possibly damaging Het
Nfasc G A 1: 132,570,481 T1155M probably damaging Het
Olfr854 T A 9: 19,567,097 T96S probably benign Het
Pan3 T C 5: 147,526,588 I440T probably benign Het
Patz1 T C 11: 3,291,134 L174P probably damaging Het
Paxx A G 2: 25,460,656 L62P probably damaging Het
Plekhh1 T C 12: 79,072,818 S972P probably damaging Het
Ppp1r13b G T 12: 111,835,038 T404K probably damaging Het
Prpf6 T C 2: 181,616,016 Y94H probably damaging Het
Rtn4 T C 11: 29,708,291 I815T possibly damaging Het
Slc44a5 A G 3: 154,262,917 T582A probably benign Het
Slitrk3 A G 3: 73,050,272 L389S probably damaging Het
Srp54b T A 12: 55,252,775 M297K probably benign Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zmym4 T A 4: 126,870,273 I1325L probably damaging Het
Zswim2 C A 2: 83,923,638 R226L probably damaging Het
Other mutations in Prkaa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01020:Prkaa2 APN 4 105075462 missense probably damaging 1.00
IGL01350:Prkaa2 APN 4 105051912 splice site probably null
IGL01474:Prkaa2 APN 4 105049332 critical splice donor site probably null
IGL02149:Prkaa2 APN 4 105040088 missense probably benign 0.01
IGL03185:Prkaa2 APN 4 105039721 critical splice donor site probably null
R0004:Prkaa2 UTSW 4 105047091 missense probably null 1.00
R1536:Prkaa2 UTSW 4 105075450 missense probably damaging 1.00
R1588:Prkaa2 UTSW 4 105051223 missense probably damaging 0.96
R1596:Prkaa2 UTSW 4 105036329 missense probably damaging 1.00
R1920:Prkaa2 UTSW 4 105036753 nonsense probably null
R2356:Prkaa2 UTSW 4 105039721 critical splice donor site probably null
R2995:Prkaa2 UTSW 4 105052007 missense probably damaging 1.00
R4037:Prkaa2 UTSW 4 105051247 missense probably damaging 1.00
R4038:Prkaa2 UTSW 4 105051247 missense probably damaging 1.00
R4039:Prkaa2 UTSW 4 105051247 missense probably damaging 1.00
R4257:Prkaa2 UTSW 4 105039956 missense probably benign 0.00
R4810:Prkaa2 UTSW 4 105039814 missense probably damaging 1.00
R5387:Prkaa2 UTSW 4 105040177 missense probably damaging 1.00
R5813:Prkaa2 UTSW 4 105036094 makesense probably null
R6812:Prkaa2 UTSW 4 105047152 missense probably benign
R7417:Prkaa2 UTSW 4 105075543 missense probably benign 0.05
Posted On2015-04-16