Incidental Mutation 'R1493:Prkag1'
ID 165582
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 039544-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.363) question?
Stock # R1493 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 98710678-98729354 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98711551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 271 (Y271C)
Ref Sequence ENSEMBL: ENSMUSP00000132499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168846] [ENSMUST00000229297] [ENSMUST00000230560] [ENSMUST00000230409]
AlphaFold O54950
Predicted Effect probably benign
Transcript: ENSMUST00000168846
AA Change: Y271C

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000132499
Gene: ENSMUSG00000067713
AA Change: Y271C

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 noncoding transcript
Transcript: ENSMUST00000181510
Predicted Effect probably benign
Transcript: ENSMUST00000229297
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229346
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229544
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229573
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230113
Predicted Effect probably benign
Transcript: ENSMUST00000230560
Predicted Effect probably benign
Transcript: ENSMUST00000230409
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 92.9%
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T C 11: 58,767,544 (GRCm39) S14P probably damaging Het
Abca15 A T 7: 119,981,513 (GRCm39) D989V probably benign Het
Abcg8 T C 17: 85,004,107 (GRCm39) S472P probably damaging Het
Ablim2 T C 5: 35,966,605 (GRCm39) F178S probably damaging Het
Adprm A G 11: 66,932,702 (GRCm39) V69A possibly damaging Het
Ankrd27 C T 7: 35,307,790 (GRCm39) S343L probably benign Het
Arfgef3 A G 10: 18,506,627 (GRCm39) S833P probably damaging Het
Arhgap42 T G 9: 9,030,798 (GRCm39) E339D probably benign Het
Axdnd1 T A 1: 156,174,271 (GRCm39) M799L probably benign Het
Cars2 A T 8: 11,567,817 (GRCm39) probably null Het
Cd7 T C 11: 120,928,967 (GRCm39) T95A probably damaging Het
Cep290 A T 10: 100,398,043 (GRCm39) T2200S probably benign Het
Cep44 A G 8: 56,985,870 (GRCm39) S299P probably damaging Het
Cfap58 C T 19: 47,976,943 (GRCm39) H731Y probably damaging Het
Ehbp1 T A 11: 21,956,866 (GRCm39) E1204V probably damaging Het
Fgd5 A G 6: 91,964,612 (GRCm39) K124E probably benign Het
Folh1 T C 7: 86,410,938 (GRCm39) D268G probably damaging Het
Gm4559 A T 7: 141,828,050 (GRCm39) C17* probably null Het
Helz A G 11: 107,504,751 (GRCm39) I413V probably benign Het
Hexd A G 11: 121,112,093 (GRCm39) I438V probably benign Het
Hrh1 G A 6: 114,457,838 (GRCm39) G373D probably damaging Het
Hs3st5 G A 10: 36,708,870 (GRCm39) G135D probably damaging Het
Iqcf6 T C 9: 106,504,641 (GRCm39) Y102H probably benign Het
Kmt2a A T 9: 44,758,202 (GRCm39) S1124R probably damaging Het
Map3k5 A G 10: 19,904,859 (GRCm39) D387G probably damaging Het
Morc2a A G 11: 3,628,557 (GRCm39) N337D probably benign Het
Musk C T 4: 58,354,003 (GRCm39) A352V probably benign Het
Myef2l A G 3: 10,153,944 (GRCm39) K238E probably damaging Het
Nans G A 4: 46,500,761 (GRCm39) E218K probably damaging Het
Niban1 T A 1: 151,581,841 (GRCm39) V479D probably damaging Het
Ninl T G 2: 150,822,015 (GRCm39) D29A probably damaging Het
Nod1 A G 6: 54,921,041 (GRCm39) F426L probably damaging Het
Notch4 T A 17: 34,786,656 (GRCm39) C265* probably null Het
Nsd3 A G 8: 26,203,407 (GRCm39) D1307G probably benign Het
Or51h1 T C 7: 102,308,220 (GRCm39) L64P probably damaging Het
Or52e18 T A 7: 104,609,709 (GRCm39) T77S probably damaging Het
Orai3 G A 7: 127,373,077 (GRCm39) V193M possibly damaging Het
Rfc4 T C 16: 22,936,758 (GRCm39) I116V probably damaging Het
Ric1 T C 19: 29,557,249 (GRCm39) Y445H probably benign Het
Rnmt G A 18: 68,446,778 (GRCm39) D268N probably damaging Het
Rsph1 C T 17: 31,484,873 (GRCm39) G139D probably damaging Het
Sez6l2 C A 7: 126,560,984 (GRCm39) P483Q probably damaging Het
Sgo2b A G 8: 64,379,889 (GRCm39) L981P probably damaging Het
Shmt2 A G 10: 127,354,812 (GRCm39) probably null Het
Sorbs3 T C 14: 70,430,076 (GRCm39) T353A possibly damaging Het
Stk25 T C 1: 93,553,322 (GRCm39) T260A probably benign Het
Tasor A G 14: 27,171,926 (GRCm39) S425G probably damaging Het
Thap12 A G 7: 98,364,645 (GRCm39) H271R probably benign Het
Tmprss13 A G 9: 45,247,405 (GRCm39) T256A probably benign Het
Tpo A T 12: 30,181,808 (GRCm39) I29N possibly damaging Het
Trpc2 A T 7: 101,739,783 (GRCm39) N569I probably damaging Het
Unc13c T C 9: 73,546,350 (GRCm39) T1607A probably benign Het
Vldlr A G 19: 27,218,691 (GRCm39) N514S probably benign Het
Vps18 A G 2: 119,127,613 (GRCm39) Y812C probably damaging Het
Zfp692 A T 11: 58,204,866 (GRCm39) I409F probably damaging Het
Zfp735 G A 11: 73,601,305 (GRCm39) C83Y possibly damaging Het
Zic1 A G 9: 91,246,809 (GRCm39) S88P probably damaging 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
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
R8432:Prkag1 UTSW 15 98,713,425 (GRCm39) missense possibly damaging 0.71
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'- ACAGCGAAACGATGCCCTTGAC -3'
(R):5'- TGAACAAGTGGCTGACAGAACTGTG -3'

Sequencing Primer
(F):5'- CACCAGACGGTGAACCTG -3'
(R):5'- CAGAGCTAAGGAGCGCC -3'
Posted On 2014-03-28