Incidental Mutation 'R6825:Prkaa1'
ID 534125
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 044937-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6825 (G1)
Quality Score 207.009
Status Validated
Chromosome 15
Chromosomal Location 5173343-5211380 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 5173432 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 19 (I19F)
Ref Sequence ENSEMBL: ENSMUSP00000154562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051186] [ENSMUST00000228218]
AlphaFold Q5EG47
Predicted Effect possibly damaging
Transcript: ENSMUST00000051186
AA Change: I28F

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000063166
Gene: ENSMUSG00000050697
AA Change: I28F

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000228218
AA Change: I19F

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 100% (62/62)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A T 12: 72,954,654 (GRCm39) S206T probably benign Het
Aasdh A T 5: 77,036,696 (GRCm39) probably null Het
Adam10 G T 9: 70,668,884 (GRCm39) C400F probably damaging Het
Ankle2 A T 5: 110,398,635 (GRCm39) R561S probably null Het
Arhgef5 C T 6: 43,251,895 (GRCm39) T882I probably damaging Het
Arpc1a A T 5: 145,032,936 (GRCm39) K82* probably null Het
Card11 C A 5: 140,863,837 (GRCm39) R967L probably benign Het
Ccdc82 G T 9: 13,251,601 (GRCm39) probably benign Het
Cebpz T C 17: 79,227,392 (GRCm39) D1026G probably damaging Het
Cit A T 5: 116,119,833 (GRCm39) Q1321L probably damaging Het
Clcn2 C A 16: 20,528,408 (GRCm39) probably benign Het
Csf3 G C 11: 98,593,273 (GRCm39) G130A probably damaging Het
Cul2 T A 18: 3,434,946 (GRCm39) S737T probably damaging Het
Cyp1a2 G A 9: 57,584,543 (GRCm39) H504Y probably benign Het
Cyp3a44 G A 5: 145,716,396 (GRCm39) P398L probably damaging Het
Dnah8 T C 17: 30,960,147 (GRCm39) I2206T probably damaging Het
Efr3a G A 15: 65,701,679 (GRCm39) V198I probably benign Het
Epb41l5 A T 1: 119,547,931 (GRCm39) D157E possibly damaging Het
Ercc8 T C 13: 108,295,343 (GRCm39) S6P probably damaging Het
Faxc T C 4: 21,931,672 (GRCm39) S37P probably benign Het
Fbxl19 T A 7: 127,349,187 (GRCm39) I119K probably damaging Het
Frmd4b A G 6: 97,302,437 (GRCm39) V195A possibly damaging Het
Fut9 A T 4: 25,619,925 (GRCm39) S296R probably benign Het
Gas6 T C 8: 13,533,674 (GRCm39) N112D probably benign Het
H2-Q1 T C 17: 35,540,028 (GRCm39) L99P probably damaging Het
Helq A T 5: 100,940,561 (GRCm39) I346N probably damaging Het
Hepacam A G 9: 37,278,976 (GRCm39) K2E possibly damaging Het
Itgae T C 11: 73,009,322 (GRCm39) M502T possibly damaging Het
Kmt2a G A 9: 44,729,704 (GRCm39) probably benign Het
Lhx9 ACC ACCC 1: 138,769,544 (GRCm39) probably null Het
Macf1 A T 4: 123,277,015 (GRCm39) probably null Het
Mgat4a T A 1: 37,503,515 (GRCm39) K220* probably null Het
Or2t43 T C 11: 58,457,476 (GRCm39) R232G possibly damaging Het
Or4c104 T C 2: 88,586,255 (GRCm39) I255V possibly damaging Het
Or5b3 G A 19: 13,388,514 (GRCm39) V194I probably benign Het
Pex5 A T 6: 124,391,340 (GRCm39) M18K probably damaging Het
Phlda3 T C 1: 135,694,562 (GRCm39) *126Q probably null Het
Plxna1 G T 6: 89,297,597 (GRCm39) D1862E probably benign Het
Pold4 A T 19: 4,282,164 (GRCm39) I7F possibly damaging Het
Prl7d1 T G 13: 27,894,125 (GRCm39) E148A probably benign Het
Prr14l A T 5: 32,985,892 (GRCm39) V1201E possibly damaging Het
Rab3gap1 T C 1: 127,858,158 (GRCm39) C510R probably damaging Het
Rhbdf1 C T 11: 32,159,970 (GRCm39) R802H probably damaging Het
Rpl18a A C 8: 71,348,836 (GRCm39) F47V probably damaging Het
Sema5b C A 16: 35,448,377 (GRCm39) probably null Het
Sspo G A 6: 48,442,459 (GRCm39) G1985R probably benign Het
Tcaf2 C T 6: 42,606,452 (GRCm39) A501T probably benign Het
Tcerg1 A G 18: 42,681,542 (GRCm39) D563G probably damaging Het
Tdh G A 14: 63,733,281 (GRCm39) T155M probably damaging Het
Tenm2 T C 11: 35,937,711 (GRCm39) N1654S probably benign Het
Tlr5 A T 1: 182,800,609 (GRCm39) probably benign Het
Tns1 G T 1: 74,041,482 (GRCm39) C136* probably null Het
Tomm5 A T 4: 45,106,443 (GRCm39) probably null Het
Trio A T 15: 27,889,394 (GRCm39) F512I probably damaging Het
Ttll5 A T 12: 85,930,102 (GRCm39) probably null Het
Upp1 T A 11: 9,081,707 (GRCm39) H81Q probably benign Het
Usp42 A G 5: 143,713,562 (GRCm39) S71P probably damaging Het
Vamp5 G A 6: 72,357,424 (GRCm39) probably benign Het
Zap70 A G 1: 36,817,471 (GRCm39) Y238C probably damaging Het
Zfp398 A G 6: 47,843,265 (GRCm39) D307G probably damaging 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
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
R8314:Prkaa1 UTSW 15 5,208,354 (GRCm39) missense probably damaging 0.98
R9183:Prkaa1 UTSW 15 5,205,969 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-09-12