Incidental Mutation 'R5387:Prkaa2'
ID 425320
Institutional Source Beutler Lab
Gene Symbol Prkaa2
Ensembl Gene ENSMUSG00000028518
Gene Name protein kinase, AMP-activated, alpha 2 catalytic subunit
Synonyms 2310008I11Rik, AMPKalpha2
MMRRC Submission 042959-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5387 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 105029874-105109890 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 105040177 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 280 (D280Y)
Ref Sequence ENSEMBL: ENSMUSP00000030243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030243]
AlphaFold Q8BRK8
Predicted Effect probably damaging
Transcript: ENSMUST00000030243
AA Change: D280Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030243
Gene: ENSMUSG00000028518
AA Change: D280Y

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 0.1679 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 99% (80/81)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009B22Rik A T 11: 51,685,974 (GRCm38) D32E probably benign Het
2210408I21Rik T A 13: 77,259,973 (GRCm38) S140T probably benign Het
Ahnak T C 19: 9,003,691 (GRCm38) S780P probably damaging Het
Ankhd1 C A 18: 36,634,644 (GRCm38) H1205N probably damaging Het
Ano1 T C 7: 144,648,619 (GRCm38) K139R probably benign Het
Anp32b T G 4: 46,468,573 (GRCm38) C114W probably damaging Het
Ascl1 C T 10: 87,492,689 (GRCm38) A134T probably damaging Het
Atl2 C T 17: 79,852,800 (GRCm38) E453K probably benign Het
Aup1 C T 6: 83,055,024 (GRCm38) A84V probably damaging Het
Btbd7 A T 12: 102,837,785 (GRCm38) M332K probably damaging Het
Cacna1d A G 14: 30,100,751 (GRCm38) V1107A probably damaging Het
Cd33 G A 7: 43,532,053 (GRCm38) Q114* probably null Het
Col4a4 C T 1: 82,493,591 (GRCm38) G681E unknown Het
Defb22 C A 2: 152,485,906 (GRCm38) A120S unknown Het
Dnah7b A G 1: 46,188,659 (GRCm38) I1347M probably damaging Het
Efcab5 A G 11: 77,134,842 (GRCm38) I549T possibly damaging Het
Esp15 T A 17: 39,644,577 (GRCm38) probably null Het
Fbxo7 A G 10: 86,024,654 (GRCm38) T42A probably benign Het
Filip1 A G 9: 79,818,274 (GRCm38) I1021T probably benign Het
Gad1 C A 2: 70,563,851 (GRCm38) S7* probably null Het
Gm281 C A 14: 13,914,438 (GRCm38) M1I probably null Het
H2-Q7 C T 17: 35,439,542 (GRCm38) T52M probably damaging Het
H2-T3 C T 17: 36,186,702 (GRCm38) G28R probably benign Het
Hist1h2ad T A 13: 23,574,667 (GRCm38) probably null Het
Idh2 TCCCAGG T 7: 80,098,331 (GRCm38) probably benign Het
Ift81 A G 5: 122,555,535 (GRCm38) Y604H probably damaging Het
Igsf11 A G 16: 39,022,423 (GRCm38) Y154C probably damaging Het
Kif26b G T 1: 178,914,876 (GRCm38) A846S probably benign Het
Lnx2 G A 5: 147,028,154 (GRCm38) P420S probably benign Het
Lrit2 A G 14: 37,072,259 (GRCm38) T427A probably damaging Het
Lrrc43 G T 5: 123,499,671 (GRCm38) probably null Het
Mug1 T C 6: 121,884,394 (GRCm38) Y1325H probably damaging Het
Naglu A T 11: 101,076,724 (GRCm38) Y500F probably damaging Het
Npy4r A G 14: 34,146,983 (GRCm38) M116T probably benign Het
Nrd1 A G 4: 109,039,762 (GRCm38) Y526C probably damaging Het
Nrp2 T C 1: 62,762,813 (GRCm38) S472P probably benign Het
Olfr102 T A 17: 37,314,292 (GRCm38) T31S probably benign Het
Olfr361 T C 2: 37,085,719 (GRCm38) T10A possibly damaging Het
Otogl T A 10: 107,780,933 (GRCm38) T1828S probably benign Het
Pank2 C T 2: 131,274,262 (GRCm38) T200I probably benign Het
Pbrm1 A G 14: 31,082,610 (GRCm38) Y946C probably damaging Het
Pde12 A T 14: 26,666,453 (GRCm38) S437T probably benign Het
Pikfyve A G 1: 65,265,268 (GRCm38) K1710E possibly damaging Het
Plcd3 A G 11: 103,078,455 (GRCm38) S229P probably damaging Het
Polr3a T C 14: 24,454,941 (GRCm38) I1084V possibly damaging Het
Ptprg T A 14: 12,153,873 (GRCm38) S531R probably damaging Het
R3hdm2 T C 10: 127,485,434 (GRCm38) S620P probably damaging Het
Rab33b A G 3: 51,493,455 (GRCm38) T117A probably damaging Het
Rasal2 T C 1: 157,157,765 (GRCm38) D804G possibly damaging Het
Rbp3 A G 14: 33,956,413 (GRCm38) T773A possibly damaging Het
Rrnad1 A T 3: 87,930,011 (GRCm38) probably benign Het
Rspry1 A G 8: 94,638,286 (GRCm38) T185A possibly damaging Het
Sec61a2 G T 2: 5,882,545 (GRCm38) probably benign Het
Setx C T 2: 29,147,594 (GRCm38) R1364C probably benign Het
Shtn1 G T 19: 59,038,369 (GRCm38) L97M probably damaging Het
Slc35f1 T C 10: 53,108,164 (GRCm38) L340P probably damaging Het
Slc45a1 T A 4: 150,643,909 (GRCm38) probably benign Het
Slmap T C 14: 26,459,933 (GRCm38) E386G probably benign Het
Smc2 C T 4: 52,475,096 (GRCm38) A924V probably benign Het
Sp110 C G 1: 85,589,118 (GRCm38) E219D probably damaging Het
Tecta G A 9: 42,375,063 (GRCm38) L766F probably damaging Het
Tle3 C T 9: 61,407,489 (GRCm38) probably null Het
Top3a A G 11: 60,762,490 (GRCm38) F53L probably damaging Het
Trem1 T C 17: 48,241,513 (GRCm38) I26T possibly damaging Het
Ttc7b G T 12: 100,446,963 (GRCm38) Q199K possibly damaging Het
Ubap2l T C 3: 90,006,596 (GRCm38) Y975C probably benign Het
Ubxn11 C A 4: 134,123,426 (GRCm38) D196E probably damaging Het
Unc80 A G 1: 66,530,021 (GRCm38) H945R possibly damaging Het
Usp15 A G 10: 123,131,286 (GRCm38) I405T probably damaging Het
Uty C T Y: 1,189,339 (GRCm38) E138K probably damaging Het
Wapl A G 14: 34,677,295 (GRCm38) E107G probably benign Het
Wbp1l T C 19: 46,644,457 (GRCm38) probably null Het
Zfp184 T G 13: 21,949,640 (GRCm38) probably benign Het
Zfp36 A C 7: 28,377,868 (GRCm38) L205R possibly damaging Het
Other mutations in Prkaa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01020:Prkaa2 APN 4 105,075,462 (GRCm38) missense probably damaging 1.00
IGL01350:Prkaa2 APN 4 105,051,912 (GRCm38) splice site probably null
IGL01474:Prkaa2 APN 4 105,049,332 (GRCm38) critical splice donor site probably null
IGL02149:Prkaa2 APN 4 105,040,088 (GRCm38) missense probably benign 0.01
IGL02187:Prkaa2 APN 4 105,047,166 (GRCm38) missense probably benign 0.10
IGL03185:Prkaa2 APN 4 105,039,721 (GRCm38) critical splice donor site probably null
R0004:Prkaa2 UTSW 4 105,047,091 (GRCm38) missense probably null 1.00
R1536:Prkaa2 UTSW 4 105,075,450 (GRCm38) missense probably damaging 1.00
R1588:Prkaa2 UTSW 4 105,051,223 (GRCm38) missense probably damaging 0.96
R1596:Prkaa2 UTSW 4 105,036,329 (GRCm38) missense probably damaging 1.00
R1920:Prkaa2 UTSW 4 105,036,753 (GRCm38) nonsense probably null
R2356:Prkaa2 UTSW 4 105,039,721 (GRCm38) critical splice donor site probably null
R2995:Prkaa2 UTSW 4 105,052,007 (GRCm38) missense probably damaging 1.00
R4037:Prkaa2 UTSW 4 105,051,247 (GRCm38) missense probably damaging 1.00
R4038:Prkaa2 UTSW 4 105,051,247 (GRCm38) missense probably damaging 1.00
R4039:Prkaa2 UTSW 4 105,051,247 (GRCm38) missense probably damaging 1.00
R4257:Prkaa2 UTSW 4 105,039,956 (GRCm38) missense probably benign 0.00
R4810:Prkaa2 UTSW 4 105,039,814 (GRCm38) missense probably damaging 1.00
R5813:Prkaa2 UTSW 4 105,036,094 (GRCm38) makesense probably null
R6812:Prkaa2 UTSW 4 105,047,152 (GRCm38) missense probably benign
R7417:Prkaa2 UTSW 4 105,075,543 (GRCm38) missense probably benign 0.05
R8156:Prkaa2 UTSW 4 105,051,975 (GRCm38) missense probably benign 0.44
R8326:Prkaa2 UTSW 4 105,036,298 (GRCm38) missense possibly damaging 0.67
R9051:Prkaa2 UTSW 4 105,049,403 (GRCm38) nonsense probably null
R9422:Prkaa2 UTSW 4 105,051,998 (GRCm38) missense probably benign 0.04
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-08-04