Incidental Mutation 'R2045:Prkag2'
ID 221794
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 040052-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2045 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 25067742-25305640 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25152580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 175 (F175L)
Ref Sequence ENSEMBL: ENSMUSP00000030784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030784] [ENSMUST00000076306]
AlphaFold Q91WG5
Predicted Effect possibly damaging
Transcript: ENSMUST00000030784
AA Change: F175L

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000030784
Gene: ENSMUSG00000028944
AA Change: F175L

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 probably benign
Transcript: ENSMUST00000076306
AA Change: F51L

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000075651
Gene: ENSMUSG00000028944
AA Change: F51L

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 0.0714 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 100% (74/74)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta2 C T 19: 34,220,799 (GRCm39) G303E probably damaging Het
Adamts1 A T 16: 85,592,864 (GRCm39) Y515N probably damaging Het
Ankef1 T C 2: 136,396,658 (GRCm39) V695A probably benign Het
Ankrd63 C A 2: 118,533,834 (GRCm39) probably benign Het
Asah2 A T 19: 32,030,356 (GRCm39) N105K probably benign Het
Atf2 A C 2: 73,693,552 (GRCm39) D3E probably damaging Het
Atp5pb T C 3: 105,851,190 (GRCm39) probably benign Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Bms1 A C 6: 118,369,588 (GRCm39) L960W probably damaging Het
Cacna1c A G 6: 118,633,098 (GRCm39) V977A probably damaging Het
Cadps2 A G 6: 23,839,121 (GRCm39) S6P possibly damaging Het
Capn8 A G 1: 182,440,951 (GRCm39) T462A probably benign Het
Cd226 T C 18: 89,225,486 (GRCm39) S128P probably benign Het
Cd33 G T 7: 43,179,316 (GRCm39) H278N probably benign Het
Cdh1 T C 8: 107,392,814 (GRCm39) probably benign Het
Cfap54 T C 10: 92,874,671 (GRCm39) probably null Het
Chit1 A G 1: 134,078,882 (GRCm39) I397M probably benign Het
Cic C A 7: 24,970,961 (GRCm39) Q231K possibly damaging Het
Clca4b A G 3: 144,630,924 (GRCm39) V312A probably damaging Het
Cngb1 T A 8: 96,023,713 (GRCm39) probably null Het
Cyfip2 T C 11: 46,140,616 (GRCm39) I430V probably benign Het
Dnah12 A G 14: 26,503,485 (GRCm39) E1613G probably null Het
Dock2 T C 11: 34,244,106 (GRCm39) probably null Het
Dync2h1 A T 9: 7,160,171 (GRCm39) F646I probably damaging Het
Eef1b2 A T 1: 63,218,646 (GRCm39) K144* probably null Het
Erap1 T C 13: 74,817,569 (GRCm39) V137A probably benign Het
Far1 A T 7: 113,138,478 (GRCm39) probably null Het
Fbn2 A T 18: 58,223,730 (GRCm39) C807S probably damaging Het
Fgfr1 A G 8: 26,048,231 (GRCm39) K209R probably benign Het
Fpr-rs4 CAGGAA CA 17: 18,242,596 (GRCm39) probably null Het
Frem2 A T 3: 53,443,165 (GRCm39) V2533D probably damaging Het
Hip1r T C 5: 124,138,794 (GRCm39) M839T probably benign Het
Igfbp2 A G 1: 72,891,310 (GRCm39) S303G probably benign Het
Insyn2a T G 7: 134,520,159 (GRCm39) K124Q probably damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Itgb3 T G 11: 104,514,239 (GRCm39) S27A probably benign Het
Kif21b G A 1: 136,088,051 (GRCm39) D1015N probably damaging Het
Krt7 A T 15: 101,321,365 (GRCm39) probably null Het
Krtdap T A 7: 30,490,010 (GRCm39) F80L probably benign Het
Lcp1 A T 14: 75,437,841 (GRCm39) T84S probably benign Het
Lipi G A 16: 75,347,087 (GRCm39) T444I probably damaging Het
Lrguk A T 6: 34,048,003 (GRCm39) E316V probably damaging Het
Lypd1 G A 1: 125,838,272 (GRCm39) probably benign Het
Med12l A T 3: 59,169,731 (GRCm39) K1632* probably null Het
Mrgpra9 A T 7: 46,885,583 (GRCm39) M28K probably benign Het
Mylk A G 16: 34,774,023 (GRCm39) K1291E probably benign Het
Nek4 T A 14: 30,675,880 (GRCm39) W72R probably damaging Het
Nudt8 T C 19: 4,051,899 (GRCm39) V170A probably damaging Het
Oosp3 T A 19: 11,676,733 (GRCm39) Y31N probably benign Het
Padi2 A T 4: 140,665,241 (GRCm39) R449W probably damaging Het
Pcf11 G T 7: 92,311,087 (GRCm39) N300K probably damaging Het
Pcsk5 T C 19: 17,558,508 (GRCm39) D633G possibly damaging Het
Phlpp2 T A 8: 110,634,232 (GRCm39) W271R probably damaging Het
Pikfyve T C 1: 65,292,512 (GRCm39) V1276A probably benign Het
Pkhd1l1 A T 15: 44,343,050 (GRCm39) N176Y probably damaging Het
Pop5 T G 5: 115,376,271 (GRCm39) V33G possibly damaging Het
Ptpn22 T A 3: 103,781,337 (GRCm39) D79E possibly damaging Het
Rab32 T G 10: 10,426,577 (GRCm39) D123A probably damaging Het
Rnpc3 T C 3: 113,402,009 (GRCm39) K513E possibly damaging Het
Senp1 A T 15: 97,957,825 (GRCm39) F358I possibly damaging Het
Sft2d2 A G 1: 165,012,647 (GRCm39) L83P probably damaging Het
Slc9c1 G A 16: 45,400,613 (GRCm39) R741H probably damaging Het
Smad4 A T 18: 73,782,877 (GRCm39) Y352* probably null Het
Tamm41 T A 6: 114,993,056 (GRCm39) Q232H probably benign Het
Tbx6 T A 7: 126,382,055 (GRCm39) L131Q probably damaging Het
Trappc10 T C 10: 78,045,313 (GRCm39) probably benign Het
Trp53bp1 C A 2: 121,034,964 (GRCm39) A108S probably benign Het
Tut7 T C 13: 59,948,470 (GRCm39) Y215C probably damaging Het
Unc13b G A 4: 43,091,266 (GRCm39) V31M probably damaging Het
Usp24 T C 4: 106,258,177 (GRCm39) M1525T possibly damaging Het
Vax2 G A 6: 83,688,252 (GRCm39) probably benign Het
Vcan T A 13: 89,839,104 (GRCm39) I2147L probably benign Het
Zbtb7a C A 10: 80,980,244 (GRCm39) A146E probably benign Het
Zfp287 A G 11: 62,618,395 (GRCm39) L157P 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
R1569:Prkag2 UTSW 5 25,152,475 (GRCm39) missense possibly damaging 0.59
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
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'- GCAGACTTACAGTTCTCAAAGG -3'
(R):5'- CTGAACTCTGAACTTGTAAGAGGC -3'

Sequencing Primer
(F):5'- CAGTTCTCAAAGGAGCATGGTATGTC -3'
(R):5'- CTGAACTTGTAAGAGGCTATGAATAC -3'
Posted On 2014-08-25