Incidental Mutation 'IGL02621:Prkag1'
ID300870
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkag1
Ensembl Gene ENSMUSG00000067713
Gene Nameprotein kinase, AMP-activated, gamma 1 non-catalytic subunit
SynonymsPrkaac
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.383) question?
Stock #IGL02621
Quality Score
Status
Chromosome15
Chromosomal Location98812797-98831521 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 98814028 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 239 (I239N)
Ref Sequence ENSEMBL: ENSMUSP00000132499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168846] [ENSMUST00000229297] [ENSMUST00000230409] [ENSMUST00000230560]
Predicted Effect probably damaging
Transcript: ENSMUST00000168846
AA Change: I239N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132499
Gene: ENSMUSG00000067713
AA Change: I239N

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: ENSMUST00000230409
Predicted Effect probably damaging
Transcript: ENSMUST00000230560
AA Change: I208N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002L01Rik C A 12: 3,426,688 probably benign Het
2210408I21Rik T C 13: 77,260,031 I159T possibly damaging Het
4932438A13Rik T A 3: 37,041,484 probably benign Het
Agpat3 T A 10: 78,285,066 I93F probably damaging Het
AI481877 A T 4: 59,062,668 W863R probably damaging Het
Armc8 T C 9: 99,527,069 probably benign Het
Atr G A 9: 95,908,400 A1598T probably benign Het
Clk1 T C 1: 58,414,455 D324G probably damaging Het
Cntnap4 A T 8: 112,810,723 D742V probably damaging Het
Esrrb A G 12: 86,421,961 N16S probably benign Het
Grm1 A T 10: 10,689,011 Y1184* probably null Het
Hint1 G T 11: 54,870,185 probably benign Het
Itch A T 2: 155,172,584 probably null Het
Lmod3 T C 6: 97,238,835 probably benign Het
Map3k4 C A 17: 12,264,013 A606S probably damaging Het
Mapk4 A T 18: 73,970,275 S54R probably damaging Het
Megf11 A G 9: 64,693,932 D807G probably benign Het
Mgat5 A G 1: 127,397,589 T398A possibly damaging Het
Nme8 T G 13: 19,675,648 K28N probably damaging Het
Pamr1 A G 2: 102,634,343 N279S probably benign Het
Pcca A T 14: 122,684,979 D384V probably damaging Het
Psme4 A G 11: 30,848,131 T1375A probably benign Het
Ptk2 A C 15: 73,206,145 L1024R probably damaging Het
Rere G A 4: 150,613,812 probably benign Het
Scn2a A G 2: 65,748,879 probably benign Het
Sema5a T A 15: 32,538,656 probably benign Het
Slc9a1 T A 4: 133,370,568 W9R probably benign Het
Slco1a5 T A 6: 142,242,015 M533L probably benign Het
Ttll4 T A 1: 74,687,484 S720T probably damaging Het
Vmn1r168 A T 7: 23,541,355 R212S probably damaging Het
Vmn2r114 T C 17: 23,310,520 I203V probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Other mutations in Prkag1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01932:Prkag1 APN 15 98814531 missense probably damaging 1.00
IGL02804:Prkag1 APN 15 98815504 missense probably damaging 1.00
IGL03197:Prkag1 APN 15 98815177 splice site probably benign
R0328:Prkag1 UTSW 15 98815682 missense probably damaging 1.00
R1188:Prkag1 UTSW 15 98814598 missense probably damaging 0.99
R1493:Prkag1 UTSW 15 98813670 missense probably benign 0.02
R1663:Prkag1 UTSW 15 98815895 missense probably damaging 1.00
R2115:Prkag1 UTSW 15 98814552 missense probably damaging 1.00
R2216:Prkag1 UTSW 15 98815946 start codon destroyed probably null 1.00
R5037:Prkag1 UTSW 15 98815887 missense possibly damaging 0.51
R5175:Prkag1 UTSW 15 98815715 missense possibly damaging 0.82
R5597:Prkag1 UTSW 15 98815908 missense probably damaging 1.00
R6185:Prkag1 UTSW 15 98825714 missense probably benign 0.00
R6359:Prkag1 UTSW 15 98814552 missense probably damaging 1.00
R6429:Prkag1 UTSW 15 98814523 missense probably damaging 1.00
Posted On2015-04-16