Incidental Mutation 'R8432:Prkag1'
ID 653835
Institutional Source Beutler Lab
Gene Symbol Prkag1
Ensembl Gene ENSMUSG00000067713
Gene Name protein kinase, AMP-activated, gamma 1 non-catalytic subunit
Synonyms Prkaac
MMRRC Submission 067882-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.358) question?
Stock # R8432 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 98710678-98729354 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98713425 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 87 (I87V)
Ref Sequence ENSEMBL: ENSMUSP00000132499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168846] [ENSMUST00000229297] [ENSMUST00000230560]
AlphaFold O54950
Predicted Effect possibly damaging
Transcript: ENSMUST00000168846
AA Change: I87V

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000132499
Gene: ENSMUSG00000067713
AA Change: I87V

DomainStartEndE-ValueType
CBS 46 95 8.18e-7 SMART
CBS 127 176 3.12e-12 SMART
CBS 202 250 1.01e-11 SMART
CBS 274 322 2.11e-9 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000229297
AA Change: I56V

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000230560
AA Change: I56V

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 98% (61/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a regulatory 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. This subunit is one of the gamma regulatory subunits of AMPK. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hemolytic anemia, extramedullary hematopoiesis, and iron accumulation in the spleen, liver, and Kupffer cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 A G 9: 122,197,317 (GRCm39) Y168C probably damaging Het
Agbl1 A C 7: 76,774,434 (GRCm39) R1119S unknown Het
Agpat5 A T 8: 18,896,777 (GRCm39) N68Y probably benign Het
Ap4b1 G A 3: 103,728,135 (GRCm39) R551Q probably benign Het
Arhgef28 T C 13: 98,088,091 (GRCm39) I1122V probably benign Het
Arhgef40 T A 14: 52,226,857 (GRCm39) D300E probably benign Het
Atxn7 T C 14: 14,013,635 (GRCm38) V112A probably benign Het
AY358078 T A 14: 52,059,635 (GRCm39) L324H unknown Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Bnip5 C T 17: 29,118,545 (GRCm39) R629H probably benign Het
Cacng2 A G 15: 77,897,522 (GRCm39) Y96H probably damaging Het
Cd2ap A T 17: 43,109,484 (GRCm39) probably null Het
Cdh5 A T 8: 104,839,698 (GRCm39) E56D probably damaging Het
Cfap65 C T 1: 74,967,203 (GRCm39) G249R probably benign Het
Cpne3 A T 4: 19,535,227 (GRCm39) S268R probably benign Het
Cubn T A 2: 13,386,610 (GRCm39) I1552F probably benign Het
Dhrs7 G A 12: 72,711,581 (GRCm39) probably benign Het
Dnah7a G C 1: 53,657,195 (GRCm39) I860M possibly damaging Het
Dync1h1 A T 12: 110,584,576 (GRCm39) M660L probably benign Het
Ecd T A 14: 20,370,998 (GRCm39) T574S probably benign Het
Efna5 A G 17: 62,958,017 (GRCm39) Y80H probably damaging Het
Ercc5 A T 1: 44,206,841 (GRCm39) K585* probably null Het
Erich4 A G 7: 25,314,533 (GRCm39) S127P probably benign Het
Gckr A T 5: 31,466,447 (GRCm39) Q474L possibly damaging Het
Gid8 A G 2: 180,356,654 (GRCm39) N97S probably benign Het
Gm28042 G T 2: 119,869,077 (GRCm39) C557F probably damaging Het
Gp2 C T 7: 119,042,010 (GRCm39) C505Y probably benign Het
Gzf1 A G 2: 148,532,115 (GRCm39) T581A probably benign Het
Heatr5b A T 17: 79,110,930 (GRCm39) Y973N probably damaging Het
Herc2 A G 7: 55,804,860 (GRCm39) E2296G probably benign Het
Hydin A T 8: 111,324,583 (GRCm39) N4648I probably benign Het
Mlip A T 9: 77,098,011 (GRCm39) D157E possibly damaging Het
Mrpl19 A G 6: 81,939,136 (GRCm39) V222A probably damaging Het
Myo18b A G 5: 112,912,378 (GRCm39) V1896A probably benign Het
Myo9a G A 9: 59,687,548 (GRCm39) V218M probably damaging Het
Nepn A T 10: 52,267,880 (GRCm39) T49S probably benign Het
Nsd1 T G 13: 55,395,516 (GRCm39) M1142R possibly damaging Het
Or52e8 T G 7: 104,625,199 (GRCm39) T2P probably benign Het
Or8b40 A G 9: 38,027,272 (GRCm39) Y65C probably damaging Het
Otulinl A T 15: 27,664,818 (GRCm39) M46K possibly damaging Het
Pcnt G A 10: 76,256,039 (GRCm39) R734W probably damaging Het
Pgm2l1 A G 7: 99,909,260 (GRCm39) D242G possibly damaging Het
Pkdrej T G 15: 85,701,494 (GRCm39) I1481L probably benign Het
Psma1 A T 7: 113,873,080 (GRCm39) I74N probably damaging Het
Rap1gds1 T C 3: 138,647,548 (GRCm39) S547G probably damaging Het
Rbm19 T G 5: 120,313,991 (GRCm39) F868V probably damaging Het
Riok1 T C 13: 38,221,468 (GRCm39) V11A probably benign Het
Smpd3 T A 8: 106,984,309 (GRCm39) probably null Het
Taar3 A T 10: 23,826,053 (GRCm39) I200L probably benign Het
Taf12 A G 4: 132,019,228 (GRCm39) Y139C probably damaging Het
Taf15 AGAAGTGGAGGCTACGGTGGAGACCGAAGTGG AGAAGTGG 11: 83,395,851 (GRCm39) probably benign Het
Tc2n A T 12: 101,615,363 (GRCm39) N487K probably benign Het
Tex15 A C 8: 34,066,572 (GRCm39) I2001L probably damaging Het
Tmem168 A G 6: 13,602,535 (GRCm39) F277S probably benign Het
Trim67 TGCCGCCGCCGCCGC TGCCGCCGCCGC 8: 125,520,801 (GRCm39) probably benign Het
Tspan1 G T 4: 116,021,151 (GRCm39) Q116K probably benign Het
Ttc24 G A 3: 87,977,366 (GRCm39) R325C probably benign Het
Ttn C T 2: 76,693,900 (GRCm39) E323K Het
Xirp2 A T 2: 67,340,962 (GRCm39) M1068L probably benign Het
Zbtb38 A C 9: 96,568,291 (GRCm39) M931R possibly damaging Het
Zfp931 A G 2: 177,711,346 (GRCm39) *65Q probably null Het
Other mutations in Prkag1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01932:Prkag1 APN 15 98,712,412 (GRCm39) missense probably damaging 1.00
IGL02621:Prkag1 APN 15 98,711,909 (GRCm39) missense probably damaging 1.00
IGL02804:Prkag1 APN 15 98,713,385 (GRCm39) missense probably damaging 1.00
IGL03197:Prkag1 APN 15 98,713,058 (GRCm39) splice site probably benign
R0328:Prkag1 UTSW 15 98,713,563 (GRCm39) missense probably damaging 1.00
R1188:Prkag1 UTSW 15 98,712,479 (GRCm39) missense probably damaging 0.99
R1493:Prkag1 UTSW 15 98,711,551 (GRCm39) missense probably benign 0.02
R1663:Prkag1 UTSW 15 98,713,776 (GRCm39) missense probably damaging 1.00
R2115:Prkag1 UTSW 15 98,712,433 (GRCm39) missense probably damaging 1.00
R2216:Prkag1 UTSW 15 98,713,827 (GRCm39) start codon destroyed probably null 1.00
R5037:Prkag1 UTSW 15 98,713,768 (GRCm39) missense possibly damaging 0.51
R5175:Prkag1 UTSW 15 98,713,596 (GRCm39) missense possibly damaging 0.82
R5597:Prkag1 UTSW 15 98,713,789 (GRCm39) missense probably damaging 1.00
R6185:Prkag1 UTSW 15 98,723,595 (GRCm39) missense probably benign 0.00
R6359:Prkag1 UTSW 15 98,712,433 (GRCm39) missense probably damaging 1.00
R6429:Prkag1 UTSW 15 98,712,404 (GRCm39) missense probably damaging 1.00
R7777:Prkag1 UTSW 15 98,712,478 (GRCm39) missense probably damaging 1.00
R8922:Prkag1 UTSW 15 98,712,147 (GRCm39) missense probably benign
R9163:Prkag1 UTSW 15 98,711,900 (GRCm39) missense possibly damaging 0.62
Predicted Primers PCR Primer
(F):5'- TGCACCTAGAAGCAGAAGC -3'
(R):5'- AGGAGGTTACTCTCTTGGCC -3'

Sequencing Primer
(F):5'- GCAGCAGCTCTGAACCTCATG -3'
(R):5'- CTCTCTTGGCCATAGGTAAAGAAAGC -3'
Posted On 2020-10-20