Incidental Mutation 'R1536:Prkaa2'
ID 169515
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 039575-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1536 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 104887071-104967087 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 104932647 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 67 (N67I)
Ref Sequence ENSEMBL: ENSMUSP00000030243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030243]
AlphaFold Q8BRK8
Predicted Effect probably damaging
Transcript: ENSMUST00000030243
AA Change: N67I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030243
Gene: ENSMUSG00000028518
AA Change: N67I

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 0.1027 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.5%
Validation Efficiency 98% (59/60)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A T 5: 88,118,524 (GRCm39) I3F probably benign Het
4930590J08Rik A G 6: 91,894,016 (GRCm39) N211S probably benign Het
A2ml1 A T 6: 128,524,196 (GRCm39) Y1145* probably null Het
Abca7 A G 10: 79,850,064 (GRCm39) D1972G probably benign Het
Adamts19 A T 18: 59,185,687 (GRCm39) D1187V probably damaging Het
Adcy6 G C 15: 98,497,888 (GRCm39) I421M probably damaging Het
Afap1 C A 5: 36,131,835 (GRCm39) H387Q probably damaging Het
Atp8b1 C T 18: 64,678,335 (GRCm39) V854M probably damaging Het
Auts2 C T 5: 131,516,302 (GRCm39) probably benign Het
Cbll1 T C 12: 31,537,855 (GRCm39) D300G probably damaging Het
Cd200r4 A T 16: 44,653,412 (GRCm39) T61S possibly damaging Het
Chmp4c G T 3: 10,454,744 (GRCm39) V207L probably benign Het
Cntn5 T C 9: 9,976,321 (GRCm39) T413A possibly damaging Het
Cox7a2 T A 9: 79,665,863 (GRCm39) probably null Het
Cwc27 A G 13: 104,933,814 (GRCm39) L236P probably damaging Het
Diaph1 A G 18: 38,029,146 (GRCm39) probably null Het
Dst T A 1: 34,299,453 (GRCm39) probably benign Het
Ear1 T A 14: 44,056,583 (GRCm39) H95L probably damaging Het
Enpp1 T A 10: 24,517,732 (GRCm39) H898L probably benign Het
Entpd5 G A 12: 84,429,069 (GRCm39) R321* probably null Het
Ercc6l2 C A 13: 63,972,685 (GRCm39) N177K possibly damaging Het
Ergic1 T C 17: 26,860,680 (GRCm39) probably null Het
Erich6 A T 3: 58,534,019 (GRCm39) I336N probably benign Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Galnt3 A T 2: 65,914,550 (GRCm39) D622E probably damaging Het
Gjd4 T A 18: 9,280,569 (GRCm39) T170S probably damaging Het
Gm5611 G A 9: 16,941,903 (GRCm39) noncoding transcript Het
Gpc5 T A 14: 115,636,662 (GRCm39) N448K probably benign Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Maco1 A G 4: 134,531,818 (GRCm39) V617A probably damaging Het
Man2b2 T C 5: 36,978,271 (GRCm39) T338A probably benign Het
Mbtps1 A T 8: 120,272,864 (GRCm39) S94T probably benign Het
Muc3a A T 5: 137,244,538 (GRCm39) S205T unknown Het
Nav2 C A 7: 49,195,682 (GRCm39) D1019E probably damaging Het
Neurl4 T A 11: 69,794,252 (GRCm39) L236* probably null Het
Or13c25 A G 4: 52,911,260 (GRCm39) V178A probably benign Het
Plcxd3 T C 15: 4,546,093 (GRCm39) probably benign Het
Pprc1 T C 19: 46,059,965 (GRCm39) probably benign Het
Prom1 T A 5: 44,175,695 (GRCm39) Y508F probably benign Het
Prx A G 7: 27,216,683 (GRCm39) M534V probably damaging Het
Rps6kc1 C T 1: 190,603,965 (GRCm39) R219Q possibly damaging Het
Sbf2 T C 7: 109,977,250 (GRCm39) Y628C probably damaging Het
Slc1a2 A T 2: 102,607,855 (GRCm39) D501V probably benign Het
Spata31 A T 13: 65,069,196 (GRCm39) Q448L probably damaging Het
Stk35 T C 2: 129,653,155 (GRCm39) probably benign Het
Stxbp5 T A 10: 9,713,836 (GRCm39) R234S probably damaging Het
Tifab A G 13: 56,324,101 (GRCm39) V114A probably benign Het
Tiprl A G 1: 165,055,975 (GRCm39) M49T probably benign Het
Tlr12 A G 4: 128,511,545 (GRCm39) L235P possibly damaging Het
Trim43b A T 9: 88,967,411 (GRCm39) C407* probably null Het
Txndc17 C A 11: 72,098,533 (GRCm39) F28L probably damaging Het
Vmn2r27 T C 6: 124,177,649 (GRCm39) R452G probably damaging Het
Vmn2r3 T A 3: 64,182,538 (GRCm39) D387V probably damaging Het
Vps13b T C 15: 35,875,712 (GRCm39) I2699T probably damaging Het
Zfp944 G T 17: 22,558,697 (GRCm39) Y183* probably null 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
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
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'- AGTGCTGACTCTGAAGCAAGGC -3'
(R):5'- CACTTAGAGCACAGTGGGAAGATGC -3'

Sequencing Primer
(F):5'- GGCTTTAGTTTTAAGCCAAGAATG -3'
(R):5'- GCACGAGTAATGATTCTGTTCTTC -3'
Posted On 2014-04-13