Incidental Mutation 'R4039:Prkaa2'
ID313833
Institutional Source Beutler Lab
Gene Symbol Prkaa2
Ensembl Gene ENSMUSG00000028518
Gene Nameprotein kinase, AMP-activated, alpha 2 catalytic subunit
Synonyms2310008I11Rik, AMPKalpha2
MMRRC Submission 041614-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4039 (G1)
Quality Score225
Status Validated
Chromosome4
Chromosomal Location105029874-105109890 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 105051247 bp
ZygosityHeterozygous
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]
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 0.29 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 98% (48/49)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik A T 15: 60,016,366 L75Q possibly damaging Het
Cep290 T C 10: 100,512,401 probably null Het
Col11a2 A G 17: 34,045,774 T268A probably benign Het
Crnkl1 T A 2: 145,932,327 D72V possibly damaging Het
Csn2 C T 5: 87,698,076 M1I probably null Het
Dhcr24 T C 4: 106,573,878 F255L probably benign Het
Epn2 A G 11: 61,546,522 Y75H probably damaging Het
Galnt3 A T 2: 66,085,327 H563Q probably damaging Het
Galnt9 T C 5: 110,614,208 V37A probably damaging Het
Glb1l3 A C 9: 26,829,047 M329R probably damaging Het
Gorab A T 1: 163,397,066 D55E possibly damaging Het
Herc2 G A 7: 56,156,411 R2318Q probably damaging Het
Hspa2 T C 12: 76,405,768 V412A probably damaging Het
Hspb8 A G 5: 116,409,344 V193A probably benign Het
Ly75 A G 2: 60,352,995 L481P probably damaging Het
Lyzl1 T C 18: 4,169,140 L48P probably damaging Het
Mettl27 C T 5: 134,940,609 Q212* probably null Het
Mmachc T A 4: 116,706,018 T47S probably damaging Het
Ncam2 C T 16: 81,490,323 S375L probably benign Het
Ogfrl1 T C 1: 23,378,964 probably benign Het
Parp9 T C 16: 35,960,047 L461P probably damaging Het
Pcsk7 A G 9: 45,928,007 probably null Het
Plekhh1 C A 12: 79,055,183 H342Q probably benign Het
Prdm13 T G 4: 21,685,774 probably benign Het
Ptpn12 A T 5: 21,002,510 Y283* probably null Het
Rab12 T C 17: 66,500,401 Y111C possibly damaging Het
Ralgapa1 T C 12: 55,795,701 N61S probably damaging Het
Rims1 T C 1: 22,475,712 S537G probably damaging Het
Sash1 G T 10: 8,729,627 P1000T probably damaging Het
Skint5 G T 4: 113,885,814 T352K unknown Het
Slc12a5 A G 2: 164,992,330 E757G probably benign Het
Sycp2 C A 2: 178,380,927 M470I possibly damaging Het
Szt2 T C 4: 118,364,952 probably benign Het
Tbc1d1 A G 5: 64,316,428 T765A probably damaging Het
Tgfbr2 T C 9: 116,175,037 M1V probably null Het
Tnfrsf11a A G 1: 105,827,739 probably null Het
Trim43b A G 9: 89,091,347 L111P probably damaging Het
Ttbk2 A T 2: 120,745,795 S900R probably benign Het
Unc79 G A 12: 103,074,949 C747Y possibly damaging Het
Vmn1r218 T C 13: 23,136,801 V26A possibly damaging Het
Vmn2r115 A T 17: 23,345,103 Y83F probably benign Het
Zfp536 A T 7: 37,569,550 L147Q probably damaging Het
Zfp931 T A 2: 178,067,984 Q203L possibly damaging Het
Zswim2 G A 2: 83,915,994 H367Y 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
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
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
Predicted Primers PCR Primer
(F):5'- AAAGGCATGTTGAGTGGATCTG -3'
(R):5'- AGCTTTGGCAAGGTTTTAGC -3'

Sequencing Primer
(F):5'- GAGTGGATCTGTCTTCTAGAAACCTC -3'
(R):5'- AGCTGGTTTGCTTTGTCTGAC -3'
Posted On2015-04-30