Incidental Mutation 'R4038:Prkaa2'
ID 313788
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 040965-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4038 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 104887071-104967087 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104908444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 144 (N144D)
Ref Sequence ENSEMBL: ENSMUSP00000030243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030243]
AlphaFold Q8BRK8
Predicted Effect probably damaging
Transcript: ENSMUST00000030243
AA Change: N144D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030243
Gene: ENSMUSG00000028518
AA Change: N144D

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
Meta Mutation Damage Score 0.9400 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.1%
Validation Efficiency 93% (39/42)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ate1 A G 7: 130,106,495 (GRCm39) S282P probably damaging Het
Cacna1d T A 14: 29,788,040 (GRCm39) Q1610L probably damaging Het
Carmil2 C A 8: 106,422,039 (GRCm39) R1103S probably damaging Het
Clca3a1 T A 3: 144,460,994 (GRCm39) Y219F probably benign Het
Creb3l3 A G 10: 80,925,172 (GRCm39) V224A probably benign Het
Crnkl1 T A 2: 145,774,247 (GRCm39) D72V possibly damaging Het
Dhcr24 T C 4: 106,431,075 (GRCm39) F255L probably benign Het
Eef2kmt A T 16: 5,063,135 (GRCm39) V335D probably damaging Het
Elp2 T A 18: 24,767,405 (GRCm39) W696R probably damaging Het
Glb1l3 A C 9: 26,740,343 (GRCm39) M329R probably damaging Het
Gm4787 A T 12: 81,425,132 (GRCm39) F342Y probably damaging Het
Gpr137c C A 14: 45,457,687 (GRCm39) L80I probably damaging Het
Gpr83 A G 9: 14,772,073 (GRCm39) I82V possibly damaging Het
Greb1l C T 18: 10,515,209 (GRCm39) T558I possibly damaging Het
Hnrnpul2 T A 19: 8,800,591 (GRCm39) probably benign Het
Hspa2 T C 12: 76,452,542 (GRCm39) V412A probably damaging Het
Iqcd T C 5: 120,740,587 (GRCm39) V306A probably damaging Het
Lmod3 T C 6: 97,225,275 (GRCm39) N182S probably benign Het
Metrn T C 17: 26,013,984 (GRCm39) T281A probably benign Het
Mid1-ps1 G A Y: 90,773,563 (GRCm39) noncoding transcript Het
Mmachc T A 4: 116,563,215 (GRCm39) T47S probably damaging Het
Nfia C A 4: 97,909,074 (GRCm39) R277S probably damaging Het
Or9m2 T A 2: 87,821,262 (GRCm39) I269N possibly damaging Het
Pcdha8 T C 18: 37,125,914 (GRCm39) M132T probably benign Het
Ptprf C T 4: 118,114,805 (GRCm39) R150H probably damaging Het
Sfmbt1 T G 14: 30,509,449 (GRCm39) D309E probably damaging Het
Skint5 G T 4: 113,743,011 (GRCm39) T352K unknown Het
Slc16a10 G C 10: 39,932,620 (GRCm39) H314D possibly damaging Het
Slc28a2 C A 2: 122,284,996 (GRCm39) A328E probably benign Het
Ssc4d C A 5: 135,999,170 (GRCm39) W11L possibly damaging Het
Sycp2 C A 2: 178,022,720 (GRCm39) M470I possibly damaging Het
Tfap2c A T 2: 172,398,110 (GRCm39) S413C probably damaging Het
Unc13c A G 9: 73,441,188 (GRCm39) probably null Het
Vmn1r218 T C 13: 23,320,971 (GRCm39) V26A possibly damaging Het
Wipf3 G A 6: 54,458,813 (GRCm39) G56D probably damaging Het
Wiz T C 17: 32,578,198 (GRCm39) E429G probably damaging Het
Zer1 T C 2: 29,997,535 (GRCm39) N457S probably damaging Het
Zfp931 T A 2: 177,709,777 (GRCm39) Q203L possibly damaging 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
R2356:Prkaa2 UTSW 4 104,896,918 (GRCm39) critical splice donor site 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
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'- AAAGGCATGTTGAGTGGATCTG -3'
(R):5'- ATCATTGCCAAGCAGCCAAG -3'

Sequencing Primer
(F):5'- GAGTGGATCTGTCTTCTAGAAACCTC -3'
(R):5'- CGAATACTATTTTGAGCTTTGGCAAG -3'
Posted On 2015-04-30