Incidental Mutation 'R8314:Prkaa1'
ID 641594
Institutional Source Beutler Lab
Gene Symbol Prkaa1
Ensembl Gene ENSMUSG00000050697
Gene Name protein kinase, AMP-activated, alpha 1 catalytic subunit
Synonyms C130083N04Rik, AMPKalpha1
MMRRC Submission 067719-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8314 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 5173343-5211380 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5208354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 541 (S541G)
Ref Sequence ENSEMBL: ENSMUSP00000063166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051186]
AlphaFold Q5EG47
Predicted Effect probably damaging
Transcript: ENSMUST00000051186
AA Change: S541G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000063166
Gene: ENSMUSG00000050697
AA Change: S541G

DomainStartEndE-ValueType
S_TKc 27 279 2.23e-103 SMART
low complexity region 305 318 N/A INTRINSIC
Pfam:AdenylateSensor 406 503 1.3e-15 PFAM
low complexity region 516 535 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (67/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ser/thr protein kinase family. It is the catalytic subunit of the 5'-prime-AMP-activated protein kinase (AMPK). AMPK is a cellular energy sensor conserved in all eukaryotic cells. The kinase activity of AMPK is activated by the stimuli that increase the cellular AMP/ATP ratio. AMPK regulates the activities of a number of key metabolic enzymes through phosphorylation. It protects cells from stresses that cause ATP depletion by switching off ATP-consuming biosynthetic pathways. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased muscle cell glucose uptake. Mice homozygous for a different knock-out allele exhibit anemia, reticulocytosis, splenomegaly, increased erythrocyte turnover, and elevated plasma erythropoietin levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059G10Rik T A 9: 122,777,993 (GRCm39) T84S probably benign Het
4930533K18Rik A G 10: 70,711,106 (GRCm39) T76A noncoding transcript Het
Adgrl1 C T 8: 84,665,018 (GRCm39) T1235I probably damaging Het
Ak4 C T 4: 101,320,782 (GRCm39) T197M possibly damaging Het
Alkal2 G T 12: 30,934,850 (GRCm39) G23V probably damaging Het
Alox12e T C 11: 70,206,998 (GRCm39) M603V possibly damaging Het
Ap3d1 A T 10: 80,559,373 (GRCm39) I267N possibly damaging Het
Arhgef2 T A 3: 88,528,600 (GRCm39) I12N probably benign Het
Asnsd1 A T 1: 53,385,814 (GRCm39) M520K probably damaging Het
B3galt5 T C 16: 96,116,649 (GRCm39) L94P probably damaging Het
Birc2 T C 9: 7,872,942 (GRCm39) probably benign Het
Cd177 T C 7: 24,450,013 (GRCm39) S541G probably benign Het
Cdh8 T C 8: 99,898,011 (GRCm39) D434G probably damaging Het
Cdkn3 A T 14: 47,007,330 (GRCm39) silent Het
Ciita A T 16: 10,328,852 (GRCm39) R379W probably damaging Het
Cntrl T A 2: 35,065,155 (GRCm39) M2153K probably benign Het
Csmd1 A T 8: 16,208,258 (GRCm39) D1232E probably benign Het
Cyp4a30b A C 4: 115,315,535 (GRCm39) H252P probably benign Het
Dad1 G A 14: 54,491,269 (GRCm39) R11W probably damaging Het
Ddit3 A G 10: 127,131,590 (GRCm39) probably null Het
Dusp22 G A 13: 30,892,914 (GRCm39) probably benign Het
Dzank1 A G 2: 144,344,878 (GRCm39) L293P probably damaging Het
Edf1 A G 2: 25,447,977 (GRCm39) D5G probably damaging Het
Entrep3 T C 3: 89,095,453 (GRCm39) probably null Het
Ep400 T A 5: 110,903,619 (GRCm39) M327L unknown Het
Fam135a A T 1: 24,061,002 (GRCm39) H1341Q possibly damaging Het
Fbxl3 C T 14: 103,326,876 (GRCm39) V169I probably benign Het
Gm4787 A G 12: 81,425,909 (GRCm39) L83P probably damaging Het
Habp4 A G 13: 64,332,565 (GRCm39) E392G probably damaging Het
Hspg2 C A 4: 137,266,986 (GRCm39) P1997Q probably benign Het
Ints9 T C 14: 65,266,479 (GRCm39) S444P probably damaging Het
Kif18b G A 11: 102,803,900 (GRCm39) S420L probably benign Het
Klhl17 T A 4: 156,318,470 (GRCm39) M51L probably benign Het
Kmt2b C T 7: 30,278,347 (GRCm39) E1555K probably damaging Het
Malrd1 T A 2: 15,757,643 (GRCm39) D972E unknown Het
Mapk8ip3 A T 17: 25,120,748 (GRCm39) S805R probably benign Het
Mmp13 G A 9: 7,272,931 (GRCm39) C97Y probably damaging Het
Moxd1 T A 10: 24,128,438 (GRCm39) N163K possibly damaging Het
Nbea T C 3: 55,916,672 (GRCm39) I863V probably damaging Het
Nectin4 A G 1: 171,212,295 (GRCm39) T298A probably benign Het
Net1 T C 13: 3,962,672 (GRCm39) probably benign Het
Ntn1 T C 11: 68,276,450 (GRCm39) D166G probably damaging Het
Opa3 C A 7: 18,978,940 (GRCm39) A135E possibly damaging Het
Or1e31 T G 11: 73,690,568 (GRCm39) N5T noncoding transcript Het
Or4c3d T C 2: 89,882,441 (GRCm39) T76A probably benign Het
Or51v14 T C 7: 103,261,254 (GRCm39) Q102R probably damaging Het
Or5w14 A G 2: 87,541,546 (GRCm39) F235L probably benign Het
Or8g30 A G 9: 39,230,601 (GRCm39) F103S probably damaging Het
Osbpl5 T C 7: 143,248,833 (GRCm39) I608V probably benign Het
Phc1 A C 6: 122,297,937 (GRCm39) S782R unknown Het
Phf8-ps C A 17: 33,286,038 (GRCm39) A255S probably benign Het
Pip5k1b T A 19: 24,332,563 (GRCm39) T374S probably benign Het
Ptpn20 A G 14: 33,344,504 (GRCm39) N143D possibly damaging Het
Rabep1 A G 11: 70,784,486 (GRCm39) D207G possibly damaging Het
Rbbp8 G A 18: 11,853,682 (GRCm39) M296I probably benign Het
Recql4 C A 15: 76,594,380 (GRCm39) R46L probably damaging Het
Scgb2b18 T C 7: 32,872,582 (GRCm39) I74M probably benign Het
Shc4 A G 2: 125,497,536 (GRCm39) I391T possibly damaging Het
Slc38a4 A G 15: 96,908,190 (GRCm39) F184L probably benign Het
Slc7a6 A G 8: 106,895,590 (GRCm39) probably benign Het
Smim13 G T 13: 41,426,110 (GRCm39) G49* probably null Het
Tbc1d19 A G 5: 54,054,389 (GRCm39) D459G probably damaging Het
Tnpo1 T C 13: 99,021,133 (GRCm39) N82S possibly damaging Het
Tpp2 G A 1: 43,973,387 (GRCm39) V47I probably benign Het
Umodl1 G T 17: 31,203,806 (GRCm39) A540S probably damaging Het
Vmn2r83 G A 10: 79,317,313 (GRCm39) V519I possibly damaging Het
Zfp641 T C 15: 98,188,464 (GRCm39) I139V probably damaging Het
Zfyve21 A T 12: 111,789,715 (GRCm39) I60F probably benign Het
Other mutations in Prkaa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01100:Prkaa1 APN 15 5,203,799 (GRCm39) missense probably damaging 1.00
IGL01797:Prkaa1 APN 15 5,198,187 (GRCm39) missense probably damaging 1.00
IGL02442:Prkaa1 APN 15 5,206,369 (GRCm39) missense probably damaging 1.00
IGL02890:Prkaa1 APN 15 5,206,567 (GRCm39) missense possibly damaging 0.91
IGL03146:Prkaa1 APN 15 5,198,122 (GRCm39) missense probably damaging 0.99
IGL03396:Prkaa1 APN 15 5,206,131 (GRCm39) missense probably damaging 1.00
pressor UTSW 15 5,206,437 (GRCm39) missense probably damaging 1.00
R1439:Prkaa1 UTSW 15 5,194,225 (GRCm39) missense probably damaging 0.99
R1466:Prkaa1 UTSW 15 5,208,279 (GRCm39) missense probably benign
R1466:Prkaa1 UTSW 15 5,208,279 (GRCm39) missense probably benign
R1804:Prkaa1 UTSW 15 5,208,259 (GRCm39) missense probably benign 0.41
R1807:Prkaa1 UTSW 15 5,173,436 (GRCm39) missense probably damaging 1.00
R4381:Prkaa1 UTSW 15 5,206,289 (GRCm39) missense probably benign
R4398:Prkaa1 UTSW 15 5,206,642 (GRCm39) missense possibly damaging 0.58
R4579:Prkaa1 UTSW 15 5,190,082 (GRCm39) critical splice acceptor site probably null
R4689:Prkaa1 UTSW 15 5,208,177 (GRCm39) missense probably benign
R4832:Prkaa1 UTSW 15 5,190,101 (GRCm39) missense probably damaging 0.96
R4874:Prkaa1 UTSW 15 5,203,838 (GRCm39) missense probably benign 0.16
R4876:Prkaa1 UTSW 15 5,203,886 (GRCm39) missense probably benign 0.44
R5074:Prkaa1 UTSW 15 5,206,392 (GRCm39) missense possibly damaging 0.82
R5260:Prkaa1 UTSW 15 5,190,149 (GRCm39) missense probably damaging 1.00
R5563:Prkaa1 UTSW 15 5,199,437 (GRCm39) missense probably damaging 1.00
R5706:Prkaa1 UTSW 15 5,203,823 (GRCm39) missense probably benign 0.01
R6363:Prkaa1 UTSW 15 5,206,437 (GRCm39) missense probably damaging 1.00
R6825:Prkaa1 UTSW 15 5,173,432 (GRCm39) missense possibly damaging 0.91
R7090:Prkaa1 UTSW 15 5,206,611 (GRCm39) missense probably benign
R7921:Prkaa1 UTSW 15 5,206,632 (GRCm39) missense probably damaging 1.00
R7989:Prkaa1 UTSW 15 5,206,166 (GRCm39) missense probably damaging 1.00
R8289:Prkaa1 UTSW 15 5,206,563 (GRCm39) missense possibly damaging 0.88
R9183:Prkaa1 UTSW 15 5,205,969 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTCTTTCCACCCAGATGAGATTAC -3'
(R):5'- TCCAGTCCCTGTGCAAACTG -3'

Sequencing Primer
(F):5'- TTTCCACCCAGATGAGATTACAGAAG -3'
(R):5'- TGCATTCCAAAAGGCCAATC -3'
Posted On 2020-07-28