Incidental Mutation 'IGL02149:Prkaa2'
ID281886
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 #IGL02149
Quality Score
Status
Chromosome4
Chromosomal Location105029874-105109890 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 105040088 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 309 (N309K)
Ref Sequence ENSEMBL: ENSMUSP00000030243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030243]
Predicted Effect probably benign
Transcript: ENSMUST00000030243
AA Change: N309K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000030243
Gene: ENSMUSG00000028518
AA Change: N309K

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam10 A T 9: 70,703,431 H67L probably damaging Het
Adgrb1 C T 15: 74,540,477 T435I probably damaging Het
Adgrd1 T A 5: 129,179,261 F652Y probably damaging Het
Adgrl4 T A 3: 151,500,354 F250Y possibly damaging Het
Aebp2 C T 6: 140,642,284 A360V probably benign Het
AW551984 A C 9: 39,592,924 M582R probably benign Het
B430306N03Rik T C 17: 48,316,992 V107A probably benign Het
Cage1 T C 13: 38,022,529 N447D probably damaging Het
Col17a1 T C 19: 47,668,632 D524G probably benign Het
Dpp6 A T 5: 27,538,024 I218F probably benign Het
Ep300 T G 15: 81,628,420 probably benign Het
Ephb2 C T 4: 136,693,914 C375Y probably damaging Het
Fastk A G 5: 24,444,053 V112A probably damaging Het
Fbxo11 T A 17: 87,993,759 R775S possibly damaging Het
Fbxw20 A G 9: 109,233,818 probably null Het
Hamp2 G T 7: 30,922,697 A50E probably damaging Het
Iltifb C A 10: 118,294,997 probably benign Het
Ints1 G A 5: 139,751,960 R2139C probably damaging Het
Itgae T A 11: 73,103,894 V24E probably benign Het
Jakmip3 G A 7: 139,007,346 V60M possibly damaging Het
Kcnk10 A C 12: 98,518,840 probably benign Het
Klra1 A T 6: 130,375,330 C150S probably damaging Het
Lhx9 A T 1: 138,831,434 V376E probably damaging Het
Mdm1 T A 10: 118,148,065 F199I probably damaging Het
Nipal3 G T 4: 135,466,852 T290K possibly damaging Het
Obsl1 C T 1: 75,503,820 E387K probably damaging Het
Olfr902 A G 9: 38,449,397 H175R probably damaging Het
Oxct1 A G 15: 4,091,229 Y265C probably damaging Het
Pccb G A 9: 100,985,190 H411Y probably damaging Het
Pkp1 A G 1: 135,886,747 S279P probably benign Het
Prdm14 C A 1: 13,125,439 G133C probably benign Het
Shc2 T C 10: 79,622,268 D527G probably damaging Het
Shkbp1 C T 7: 27,342,639 probably benign Het
Skil T C 3: 31,097,707 V126A possibly damaging Het
Slc25a36 A T 9: 97,093,069 probably benign Het
Slc2a13 T C 15: 91,343,721 T423A probably benign Het
Spty2d1 A G 7: 47,008,144 probably benign Het
Stag1 A G 9: 100,887,389 D519G probably benign Het
Tmprss2 G T 16: 97,599,279 probably benign Het
Trim66 G T 7: 109,460,902 T759K possibly damaging Het
Trpc4ap C A 2: 155,639,547 A530S probably damaging Het
Ttn A T 2: 76,811,755 D11625E probably damaging Het
Ube4b T C 4: 149,398,684 I42M possibly damaging Het
Ubxn10 A G 4: 138,721,273 S31P probably benign Het
Ubxn7 A G 16: 32,375,270 Y220C probably damaging Het
Vmn1r234 A G 17: 21,229,007 Y61C probably benign 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
IGL02187:Prkaa2 APN 4 105047166 missense probably benign 0.10
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
R8156:Prkaa2 UTSW 4 105051975 missense probably benign 0.44
R8326:Prkaa2 UTSW 4 105036298 missense possibly damaging 0.67
Posted On2015-04-16