Incidental Mutation 'R4689:Prkaa1'
ID 354792
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 041940-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4689 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 5173343-5211380 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5208177 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 473 (T473A)
Ref Sequence ENSEMBL: ENSMUSP00000154562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051186] [ENSMUST00000228218]
AlphaFold Q5EG47
Predicted Effect probably benign
Transcript: ENSMUST00000051186
AA Change: T482A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000063166
Gene: ENSMUSG00000050697
AA Change: T482A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150079
Predicted Effect probably benign
Transcript: ENSMUST00000228218
AA Change: T473A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0581 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 97% (72/74)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 C A 17: 46,634,996 (GRCm39) V336L probably benign Het
Acbd4 T C 11: 102,996,194 (GRCm39) L165P possibly damaging Het
Adam10 T C 9: 70,673,236 (GRCm39) S456P possibly damaging Het
Adgre4 T C 17: 56,109,096 (GRCm39) F368L probably damaging Het
Ahcyl1 G T 3: 107,572,834 (GRCm39) Y528* probably null Het
Aldh3b3 G A 19: 4,014,516 (GRCm39) V84M probably damaging Het
Cdca8 C T 4: 124,824,896 (GRCm39) G78E probably damaging Het
Cry2 T C 2: 92,254,899 (GRCm39) D152G probably benign Het
Cyp2c67 T C 19: 39,627,032 (GRCm39) Y266C probably benign Het
Dkk4 T C 8: 23,115,336 (GRCm39) F62S probably benign Het
Dnah12 G A 14: 26,427,994 (GRCm39) V207I probably benign Het
Dthd1 T C 5: 63,000,255 (GRCm39) C526R probably damaging Het
Dubr A T 16: 50,552,866 (GRCm39) noncoding transcript Het
F5 T C 1: 163,979,542 (GRCm39) probably benign Het
Flcn A C 11: 59,691,870 (GRCm39) W260G possibly damaging Het
Fmnl1 G A 11: 103,084,562 (GRCm39) probably null Het
Frem2 A T 3: 53,455,056 (GRCm39) D2173E probably benign Het
Fstl4 C T 11: 52,959,477 (GRCm39) Q173* probably null Het
Gfra3 G A 18: 34,823,640 (GRCm39) P381S unknown Het
Gm28308 C A 6: 52,190,291 (GRCm39) probably benign Het
Gm8730 T A 8: 103,592,379 (GRCm39) noncoding transcript Het
Gzmd T C 14: 56,368,683 (GRCm39) probably null Het
Hexb A G 13: 97,317,600 (GRCm39) Y366H probably damaging Het
Hydin A T 8: 111,322,046 (GRCm39) H4566L probably benign Het
Ifi213 G A 1: 173,417,986 (GRCm39) T142I possibly damaging Het
Kif13b T A 14: 65,010,513 (GRCm39) C1271S probably damaging Het
Krtap9-5 G T 11: 99,840,286 (GRCm39) C329F unknown Het
Larp1 G T 11: 57,932,439 (GRCm39) G207W probably damaging Het
Lfng A G 5: 140,600,194 (GRCm39) D368G probably damaging Het
Mbd5 G A 2: 49,148,291 (GRCm39) V834I possibly damaging Het
Mterf1b T A 5: 4,247,263 (GRCm39) Y301* probably null Het
Myh7b T C 2: 155,472,434 (GRCm39) I1305T possibly damaging Het
Myo16 T C 8: 10,488,890 (GRCm39) V687A probably damaging Het
Naip2 A T 13: 100,285,320 (GRCm39) I1292N probably damaging Het
Nmral1 A G 16: 4,532,422 (GRCm39) F130L probably damaging Het
Nos1 A G 5: 118,017,450 (GRCm39) N271S probably benign Het
Nrap A G 19: 56,374,458 (GRCm39) S23P probably damaging Het
Or12d16-ps1 A T 17: 37,705,662 (GRCm39) N77I probably damaging Het
Or2aj4 A T 16: 19,385,263 (GRCm39) Y123* probably null Het
Or4e2 T C 14: 52,688,671 (GRCm39) I267T probably benign Het
Or6c210 T C 10: 129,496,185 (GRCm39) V170A probably benign Het
Pkdcc C G 17: 83,523,290 (GRCm39) C132W probably damaging Het
Plekhg6 G A 6: 125,350,144 (GRCm39) L265F probably benign Het
Prpf3 G A 3: 95,743,801 (GRCm39) Q451* probably null Het
Psma5-ps T A 10: 85,150,065 (GRCm39) noncoding transcript Het
Ptprh T A 7: 4,600,996 (GRCm39) D127V possibly damaging Het
Rab36 T C 10: 74,877,765 (GRCm39) probably null Het
Rasa1 A T 13: 85,386,282 (GRCm39) Y427* probably null Het
Rgs11 T C 17: 26,423,521 (GRCm39) probably null Het
Serpinb13 C T 1: 106,910,574 (GRCm39) S66L probably damaging Het
Shank2 G A 7: 143,974,342 (GRCm39) V1087I probably benign Het
Slc39a10 A C 1: 46,875,173 (GRCm39) M43R probably benign Het
Slc40a1 T A 1: 45,951,473 (GRCm39) Q228L probably benign Het
Slc45a1 A T 4: 150,722,996 (GRCm39) L296Q probably benign Het
Stambpl1 A G 19: 34,213,691 (GRCm39) T307A probably benign Het
Stt3a T C 9: 36,644,225 (GRCm39) T705A possibly damaging Het
Tec G A 5: 72,980,980 (GRCm39) probably benign Het
Trp63 A T 16: 25,684,012 (GRCm39) T300S possibly damaging Het
Vmn1r235 A G 17: 21,482,623 (GRCm39) H316R probably benign Het
Vmn2r1 A G 3: 64,012,074 (GRCm39) H645R possibly damaging Het
Wdfy4 A G 14: 32,831,505 (GRCm39) I907T possibly damaging Het
Zcchc10 A G 11: 53,218,151 (GRCm39) T33A probably benign Het
Zfp318 T A 17: 46,710,560 (GRCm39) V761D probably damaging Het
Zfp358 T C 8: 3,546,146 (GRCm39) probably null Het
Zfp661 G A 2: 127,419,468 (GRCm39) P224L probably damaging Het
Zfp937 T C 2: 150,078,706 (GRCm39) M33T probably damaging Het
Zfp955a T C 17: 33,461,040 (GRCm39) H364R 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
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
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
(F):5'- ATACTATGTATCCCATGTTGACTGG -3'
(R):5'- ACTTCCTGGTCTTGGAGCTAC -3'

Sequencing Primer
(F):5'- GTATCCCATGTTGACTGGCCATTG -3'
(R):5'- TCTTGGAGCTACGTCGACAG -3'
Posted On 2015-10-21