Incidental Mutation 'IGL01292:Prkag2'
ID72942
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkag2
Ensembl Gene ENSMUSG00000028944
Gene Nameprotein kinase, AMP-activated, gamma 2 non-catalytic subunit
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01292
Quality Score
Status
Chromosome5
Chromosomal Location24862744-25100642 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 25021965 bp
ZygosityHeterozygous
Amino Acid Change Serine to Asparagine at position 98 (S98N)
Ref Sequence ENSEMBL: ENSMUSP00000030784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030784]
Predicted Effect probably benign
Transcript: ENSMUST00000030784
AA Change: S98N

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000030784
Gene: ENSMUSG00000028944
AA Change: S98N

DomainStartEndE-ValueType
low complexity region 9 29 N/A INTRINSIC
low complexity region 81 95 N/A INTRINSIC
low complexity region 113 122 N/A INTRINSIC
low complexity region 129 144 N/A INTRINSIC
low complexity region 151 172 N/A INTRINSIC
low complexity region 228 243 N/A INTRINSIC
CBS 276 325 7.01e-6 SMART
CBS 357 406 4.28e-10 SMART
CBS 432 480 8.11e-11 SMART
CBS 504 552 3.62e-8 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] AMP-activated protein kinase (AMPK) is a heterotrimeric protein composed of a catalytic alpha subunit, a noncatalytic beta subunit, and a noncatalytic regulatory gamma subunit. Various forms of each of these subunits exist, encoded by different genes. AMPK is an important energy-sensing enzyme that monitors cellular energy status and functions by inactivating key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This gene is a member of the AMPK gamma subunit family. Mutations in this gene have been associated with Wolff-Parkinson-White syndrome, familial hypertrophic cardiomyopathy, and glycogen storage disease of the heart. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygous constitutively active mutants develop age related obesity caused by polyphagia, glucose intolerance and insulin resistance and exhibit slowing of heart rate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,660,874 S1045G probably benign Het
Aak1 T C 6: 86,949,538 probably benign Het
Car15 A G 16: 17,835,529 F258S probably damaging Het
Cpd A G 11: 76,846,245 I241T possibly damaging Het
Dchs1 T C 7: 105,760,891 D1758G probably damaging Het
Eogt T A 6: 97,144,027 N75I possibly damaging Het
Eps8l1 T C 7: 4,478,920 probably benign Het
Gdpd4 T C 7: 98,014,954 probably benign Het
Igbp1b C T 6: 138,657,535 E304K probably benign Het
Ighv1-63 A G 12: 115,495,858 S40P probably damaging Het
Intu T C 3: 40,664,266 V234A probably benign Het
Lrrc6 A T 15: 66,481,233 probably benign Het
Mars A T 10: 127,305,518 I334N probably damaging Het
Morc2a C A 11: 3,688,175 A967D probably damaging Het
Mtrf1l A T 10: 5,814,090 M291K probably benign Het
Muc19 A G 15: 91,894,276 noncoding transcript Het
Myl3 A T 9: 110,767,977 D135V probably damaging Het
Myt1 T A 2: 181,805,012 L537M probably damaging Het
Ndst4 A G 3: 125,438,754 D324G probably damaging Het
Plce1 T A 19: 38,651,785 probably benign Het
Prkab1 A T 5: 116,024,110 F47Y probably damaging Het
Rasgef1a T A 6: 118,080,383 V15D possibly damaging Het
Scgb1b19 T A 7: 33,287,626 C67* probably null Het
Slc25a15 T C 8: 22,390,036 D31G possibly damaging Het
Slc4a11 C T 2: 130,690,832 probably null Het
Snx15 A T 19: 6,119,885 M331K probably benign Het
Tsks T C 7: 44,952,558 Y224H probably damaging Het
Ufd1 T C 16: 18,821,114 S123P probably damaging Het
Xpnpep3 T G 15: 81,427,498 V135G probably damaging Het
Other mutations in Prkag2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0437:Prkag2 UTSW 5 25028505 missense possibly damaging 0.65
R0622:Prkag2 UTSW 5 24869249 missense probably damaging 0.98
R0755:Prkag2 UTSW 5 24947631 missense probably benign 0.25
R1400:Prkag2 UTSW 5 24873918 missense probably damaging 1.00
R1561:Prkag2 UTSW 5 24871595 missense probably damaging 1.00
R1569:Prkag2 UTSW 5 24947477 missense possibly damaging 0.59
R1612:Prkag2 UTSW 5 24877028 missense probably benign 0.06
R1615:Prkag2 UTSW 5 24875178 missense possibly damaging 0.56
R1700:Prkag2 UTSW 5 24871541 missense probably damaging 0.97
R2011:Prkag2 UTSW 5 24871054 critical splice donor site probably null
R2045:Prkag2 UTSW 5 24947582 missense possibly damaging 0.76
R2230:Prkag2 UTSW 5 24908364 missense probably benign 0.10
R2863:Prkag2 UTSW 5 25021792 missense probably benign 0.39
R3104:Prkag2 UTSW 5 24871069 nonsense probably null
R4193:Prkag2 UTSW 5 24878760 missense probably damaging 1.00
R4520:Prkag2 UTSW 5 24866171 missense probably damaging 1.00
R4604:Prkag2 UTSW 5 24878734 missense probably damaging 1.00
R5736:Prkag2 UTSW 5 24878722 missense probably damaging 1.00
R6273:Prkag2 UTSW 5 24947536 missense probably damaging 0.96
R6414:Prkag2 UTSW 5 25100180 start gained probably benign
R6510:Prkag2 UTSW 5 25100288 start gained probably benign
R6511:Prkag2 UTSW 5 25100288 start gained probably benign
R7035:Prkag2 UTSW 5 24947566 missense probably damaging 1.00
R7084:Prkag2 UTSW 5 25021969 missense probably benign
R7211:Prkag2 UTSW 5 24995298 missense probably benign 0.00
R7353:Prkag2 UTSW 5 24880686 missense possibly damaging 0.85
Posted On2013-10-07