Incidental Mutation 'R1569:Prkag2'
ID 177107
Institutional Source Beutler Lab
Gene Symbol Prkag2
Ensembl Gene ENSMUSG00000028944
Gene Name protein kinase, AMP-activated, gamma 2 non-catalytic subunit
Synonyms 2410051C13Rik
MMRRC Submission 039608-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1569 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 25067742-25305640 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25152475 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 86 (S86G)
Ref Sequence ENSEMBL: ENSMUSP00000075651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030784] [ENSMUST00000076306]
AlphaFold Q91WG5
Predicted Effect probably benign
Transcript: ENSMUST00000030784
AA Change: S210G

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000030784
Gene: ENSMUSG00000028944
AA Change: S210G

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000076306
AA Change: S86G

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000075651
Gene: ENSMUSG00000028944
AA Change: S86G

DomainStartEndE-ValueType
low complexity region 33 46 N/A INTRINSIC
low complexity region 104 119 N/A INTRINSIC
CBS 153 202 7.01e-6 SMART
CBS 234 283 4.28e-10 SMART
CBS 309 357 8.11e-11 SMART
CBS 381 429 3.62e-8 SMART
Meta Mutation Damage Score 0.0619 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.3%
Validation Efficiency 96% (72/75)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,056,427 (GRCm39) K166* probably null Het
Abca2 T A 2: 25,329,197 (GRCm39) N1012K probably benign Het
Ahnak T C 19: 8,981,458 (GRCm39) V914A possibly damaging Het
Akap1 T A 11: 88,724,006 (GRCm39) M833L probably benign Het
Atp2b1 T A 10: 98,823,188 (GRCm39) H249Q probably benign Het
Atp6v0a4 A G 6: 38,027,560 (GRCm39) V750A probably damaging Het
Car6 T C 4: 150,285,499 (GRCm39) Y23C probably damaging Het
Celsr3 A G 9: 108,706,267 (GRCm39) T917A probably damaging Het
Clmn C A 12: 104,747,340 (GRCm39) D736Y probably damaging Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dennd4c G A 4: 86,704,331 (GRCm39) R282H possibly damaging Het
Dsg1b T A 18: 20,529,537 (GRCm39) N327K probably damaging Het
Eftud2 A T 11: 102,745,597 (GRCm39) probably benign Het
Esyt1 G T 10: 128,354,863 (GRCm39) S512R possibly damaging Het
Fam124b T C 1: 80,190,852 (GRCm39) Y177C possibly damaging Het
Fbxl5 A T 5: 43,922,803 (GRCm39) I205K probably damaging Het
Fcrl1 A G 3: 87,292,012 (GRCm39) Y57C probably damaging Het
Gabpb1 A T 2: 126,494,171 (GRCm39) D151E probably benign Het
Gcc2 C T 10: 58,105,993 (GRCm39) L310F probably benign Het
Hsd11b1 C G 1: 192,922,635 (GRCm39) E141Q probably damaging Het
Htr1b A G 9: 81,514,340 (GRCm39) V89A probably benign Het
Ibsp A T 5: 104,458,017 (GRCm39) T185S probably damaging Het
Igfn1 T C 1: 135,896,771 (GRCm39) D1265G probably benign Het
Ints9 T C 14: 65,217,571 (GRCm39) Y33H possibly damaging Het
Kif1a A T 1: 92,986,532 (GRCm39) probably benign Het
Lama1 A T 17: 68,087,613 (GRCm39) probably null Het
Lbp A T 2: 158,161,607 (GRCm39) D223V probably damaging Het
Lck C A 4: 129,449,449 (GRCm39) D283Y probably damaging Het
Lcmt2 A G 2: 120,970,309 (GRCm39) F258S probably damaging Het
Lsg1 G T 16: 30,399,823 (GRCm39) probably null Het
Maip1 T C 1: 57,452,554 (GRCm39) probably benign Het
Mark3 T G 12: 111,600,180 (GRCm39) I465S probably benign Het
Marveld2 C T 13: 100,737,506 (GRCm39) V128I probably benign Het
Mcm3ap A G 10: 76,319,022 (GRCm39) H750R possibly damaging Het
Mdn1 A T 4: 32,723,501 (GRCm39) Q2479L probably null Het
Met A T 6: 17,531,503 (GRCm39) K594* probably null Het
Pak2 G T 16: 31,856,113 (GRCm39) S241R probably damaging Het
Plxna4 T C 6: 32,162,410 (GRCm39) I1368V possibly damaging Het
Pparg T C 6: 115,416,960 (GRCm39) I51T probably benign Het
Ppp1r18 A G 17: 36,179,595 (GRCm39) E62G probably damaging Het
Rabgap1l A T 1: 160,529,960 (GRCm39) I347K probably benign Het
Rdh1 A T 10: 127,598,941 (GRCm39) M141L probably benign Het
Rfx2 A T 17: 57,111,326 (GRCm39) I82N possibly damaging Het
Sh2b2 G A 5: 136,260,589 (GRCm39) A209V possibly damaging Het
Sh3d19 G A 3: 86,033,951 (GRCm39) R768H possibly damaging Het
Sh3rf1 C T 8: 61,837,896 (GRCm39) P814S probably damaging Het
Shbg T A 11: 69,508,415 (GRCm39) probably benign Het
Slc15a2 T C 16: 36,576,745 (GRCm39) T430A probably benign Het
Slc17a3 A T 13: 24,039,591 (GRCm39) I250F probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spg11 A G 2: 121,932,187 (GRCm39) S552P probably damaging Het
Srpk2 A G 5: 23,719,024 (GRCm39) I597T probably damaging Het
St6galnac1 T G 11: 116,660,097 (GRCm39) N72T possibly damaging Het
Tecpr2 T A 12: 110,911,321 (GRCm39) probably null Het
Tmem208 T A 8: 106,061,462 (GRCm39) C163S possibly damaging Het
Tpte T C 8: 22,835,047 (GRCm39) V401A probably damaging Het
Trhde A G 10: 114,282,093 (GRCm39) W795R possibly damaging Het
Trpm3 G A 19: 22,866,809 (GRCm39) probably null Het
Ttn T A 2: 76,626,063 (GRCm39) T14999S possibly damaging Het
Txndc2 A T 17: 65,945,921 (GRCm39) N85K probably benign Het
Yes1 A G 5: 32,810,507 (GRCm39) Y192C probably damaging Het
Zan A G 5: 137,427,392 (GRCm39) V2415A unknown Het
Zfp410 T A 12: 84,379,726 (GRCm39) C311S probably damaging Het
Zfp51 A T 17: 21,676,642 (GRCm39) M38L probably benign Het
Zfp560 A T 9: 20,260,011 (GRCm39) C284S possibly damaging Het
Zfp808 C T 13: 62,320,714 (GRCm39) R648* probably null Het
Zfp976 G T 7: 42,262,806 (GRCm39) H344N probably damaging Het
Other mutations in Prkag2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01292:Prkag2 APN 5 25,226,963 (GRCm39) missense probably benign 0.01
R0437:Prkag2 UTSW 5 25,233,503 (GRCm39) missense possibly damaging 0.65
R0622:Prkag2 UTSW 5 25,074,247 (GRCm39) missense probably damaging 0.98
R0755:Prkag2 UTSW 5 25,152,629 (GRCm39) missense probably benign 0.25
R1400:Prkag2 UTSW 5 25,078,916 (GRCm39) missense probably damaging 1.00
R1561:Prkag2 UTSW 5 25,076,593 (GRCm39) missense probably damaging 1.00
R1612:Prkag2 UTSW 5 25,082,026 (GRCm39) missense probably benign 0.06
R1615:Prkag2 UTSW 5 25,080,176 (GRCm39) missense possibly damaging 0.56
R1700:Prkag2 UTSW 5 25,076,539 (GRCm39) missense probably damaging 0.97
R2011:Prkag2 UTSW 5 25,076,052 (GRCm39) critical splice donor site probably null
R2045:Prkag2 UTSW 5 25,152,580 (GRCm39) missense possibly damaging 0.76
R2230:Prkag2 UTSW 5 25,113,362 (GRCm39) missense probably benign 0.10
R2863:Prkag2 UTSW 5 25,226,790 (GRCm39) missense probably benign 0.39
R3104:Prkag2 UTSW 5 25,076,067 (GRCm39) nonsense probably null
R4193:Prkag2 UTSW 5 25,083,758 (GRCm39) missense probably damaging 1.00
R4520:Prkag2 UTSW 5 25,071,169 (GRCm39) missense probably damaging 1.00
R4604:Prkag2 UTSW 5 25,083,732 (GRCm39) missense probably damaging 1.00
R5736:Prkag2 UTSW 5 25,083,720 (GRCm39) missense probably damaging 1.00
R6273:Prkag2 UTSW 5 25,152,534 (GRCm39) missense probably damaging 0.96
R6414:Prkag2 UTSW 5 25,305,178 (GRCm39) start gained probably benign
R6510:Prkag2 UTSW 5 25,305,286 (GRCm39) start gained probably benign
R6511:Prkag2 UTSW 5 25,305,286 (GRCm39) start gained probably benign
R7035:Prkag2 UTSW 5 25,152,564 (GRCm39) missense probably damaging 1.00
R7084:Prkag2 UTSW 5 25,226,967 (GRCm39) missense probably benign
R7211:Prkag2 UTSW 5 25,200,296 (GRCm39) missense probably benign 0.00
R7353:Prkag2 UTSW 5 25,085,684 (GRCm39) missense possibly damaging 0.85
R8204:Prkag2 UTSW 5 25,074,125 (GRCm39) splice site probably null
R8354:Prkag2 UTSW 5 25,074,137 (GRCm39) nonsense probably null
R8401:Prkag2 UTSW 5 25,068,868 (GRCm39) missense probably benign
R8560:Prkag2 UTSW 5 25,071,063 (GRCm39) critical splice donor site probably benign
R8747:Prkag2 UTSW 5 25,085,680 (GRCm39) critical splice donor site probably null
R9634:Prkag2 UTSW 5 25,074,238 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- CTCAGCCTGTGACTTATGACAGCAC -3'
(R):5'- CTCACACCTCAGCATGGAGGTAAAG -3'

Sequencing Primer
(F):5'- CTGTGACTTATGACAGCACAATTTAC -3'
(R):5'- TGGGCTCTTAGAAGCACAGC -3'
Posted On 2014-04-24