Incidental Mutation 'R6273:Prkag2'
ID 507449
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 044443-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6273 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 25067742-25305640 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 25152534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 190 (R190L)
Ref Sequence ENSEMBL: ENSMUSP00000030784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030784] [ENSMUST00000076306]
AlphaFold Q91WG5
Predicted Effect probably damaging
Transcript: ENSMUST00000030784
AA Change: R190L

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030784
Gene: ENSMUSG00000028944
AA Change: R190L

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: R66L

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000075651
Gene: ENSMUSG00000028944
AA Change: R66L

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 98% (78/80)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T A 5: 64,055,561 (GRCm39) I99N probably damaging Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Ankrd31 A G 13: 96,988,181 (GRCm39) I1065V possibly damaging Het
Aox1 A G 1: 58,378,831 (GRCm39) T1027A probably benign Het
Atm G A 9: 53,399,222 (GRCm39) P1593L probably benign Het
Atp13a5 T G 16: 29,167,555 (GRCm39) I132L probably benign Het
BC035044 A G 6: 128,867,852 (GRCm39) probably benign Het
Cadm3 CT C 1: 173,176,691 (GRCm39) probably benign Homo
Car3 C T 3: 14,936,677 (GRCm39) P247S probably benign Het
Ccdc7a T C 8: 129,513,819 (GRCm39) Y160C probably damaging Het
Cd1d1 A G 3: 86,905,564 (GRCm39) V143A probably benign Het
Cemip2 T A 19: 21,779,369 (GRCm39) V393E probably damaging Het
Cog6 A T 3: 52,903,473 (GRCm39) F142I probably damaging Het
Cracd A T 5: 77,005,568 (GRCm39) D643V unknown Het
Crhr1 T G 11: 104,054,682 (GRCm39) N98K possibly damaging Het
Csf1 A G 3: 107,656,479 (GRCm39) V72A probably damaging Het
Cwc15 T A 9: 14,421,537 (GRCm39) I201K probably benign Het
Dgka T C 10: 128,559,515 (GRCm39) K482R probably benign Het
Dnah7b T C 1: 46,281,476 (GRCm39) S2846P possibly damaging Het
Dst T A 1: 34,314,347 (GRCm39) I4199N probably damaging Het
Dusp7 A G 9: 106,251,095 (GRCm39) T407A possibly damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fem1a T C 17: 56,564,083 (GRCm39) Y59H possibly damaging Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Filip1 A T 9: 79,723,168 (GRCm39) D1150E probably benign Het
Gabra1 A G 11: 42,031,138 (GRCm39) V264A probably damaging Het
Gm4131 T C 14: 62,702,299 (GRCm39) E223G probably damaging Het
Gon4l T C 3: 88,763,156 (GRCm39) V333A probably damaging Het
Gsk3b A G 16: 38,028,408 (GRCm39) T289A probably benign Het
Hmcn2 T C 2: 31,301,846 (GRCm39) S2912P probably damaging Het
Htr7 A T 19: 36,018,969 (GRCm39) probably benign Het
Ibsp A G 5: 104,458,167 (GRCm39) T235A probably benign Het
Ints13 A T 6: 146,467,179 (GRCm39) D116E probably damaging Het
Irag1 G T 7: 110,470,790 (GRCm39) H848N probably benign Het
Kctd19 T C 8: 106,112,117 (GRCm39) N753S probably benign Het
Mdn1 A G 4: 32,715,979 (GRCm39) N2054D probably benign Het
Mink1 A T 11: 70,502,261 (GRCm39) K880* probably null Het
Myo15b T A 11: 115,753,625 (GRCm39) L824Q possibly damaging Het
Napepld T C 5: 21,870,320 (GRCm39) E366G probably benign Het
Obscn T A 11: 58,967,819 (GRCm39) T2662S possibly damaging Het
Or2g7 T G 17: 38,378,686 (GRCm39) L208R probably damaging Het
Or2n1b T A 17: 38,459,833 (GRCm39) M118K possibly damaging Het
Or4k52 T C 2: 111,611,567 (GRCm39) F301L probably benign Het
Or52p1 A G 7: 104,267,102 (GRCm39) D72G probably damaging Het
Or5b12 A G 19: 12,896,764 (GRCm39) V303A probably benign Het
Or6d13 A G 6: 116,518,277 (GRCm39) T288A possibly damaging Het
Pah T C 10: 87,412,077 (GRCm39) probably null Het
Panx3 T G 9: 37,578,725 (GRCm39) I85L probably benign Het
Pate4 T C 9: 35,519,086 (GRCm39) N94D probably benign Het
Pde4d A G 13: 110,086,755 (GRCm39) M610V possibly damaging Het
Pik3c2b T C 1: 132,994,449 (GRCm39) S138P probably benign Het
Pkn1 T C 8: 84,398,899 (GRCm39) N696S probably damaging Het
Plppr2 A G 9: 21,855,801 (GRCm39) E258G probably damaging Het
Plxnd1 A T 6: 115,955,453 (GRCm39) M538K probably damaging Het
Prepl G T 17: 85,390,696 (GRCm39) N87K probably benign Het
Rara A G 11: 98,861,048 (GRCm39) T179A probably benign Het
Rfx7 A G 9: 72,524,279 (GRCm39) K490E possibly damaging Het
Rgsl1 C T 1: 153,703,211 (GRCm39) V147M possibly damaging Het
Rph3a A G 5: 121,083,485 (GRCm39) I595T possibly damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Homo
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc8a2 T C 7: 15,879,259 (GRCm39) F582L possibly damaging Het
Sprr2e A G 3: 92,260,171 (GRCm39) M1V probably null Het
Steap1 T A 5: 5,790,827 (GRCm39) R40S possibly damaging Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Thsd7a A T 6: 12,408,835 (GRCm39) V729E probably damaging Het
Tmprss13 A G 9: 45,256,630 (GRCm39) Y525C probably damaging Het
Tnik A T 3: 28,631,649 (GRCm39) H383L possibly damaging Het
Vars1 T C 17: 35,232,719 (GRCm39) L881S probably damaging Het
Vmn1r201 A C 13: 22,659,385 (GRCm39) S200R probably damaging Het
Vmn2r130 A T 17: 23,295,759 (GRCm39) H643L probably benign Het
Vmn2r14 A T 5: 109,369,133 (GRCm39) W147R probably benign Het
Vps53 T C 11: 75,992,844 (GRCm39) E367G probably benign Het
Xab2 C T 8: 3,661,822 (GRCm39) G544S probably damaging Het
Ythdf3 T A 3: 16,259,020 (GRCm39) V400E possibly damaging Het
Zfand5 C T 19: 21,257,060 (GRCm39) P147S probably benign Het
Zfp768 A T 7: 126,944,319 (GRCm39) probably null Het
Zswim8 A G 14: 20,763,521 (GRCm39) M423V probably benign 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
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
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'- CAGCCTGTGACTTATGACAGC -3'
(R):5'- CTTAGAAGCACAGCCCTCTTC -3'

Sequencing Primer
(F):5'- ATTTACAAATGCTAGCCCTGCG -3'
(R):5'- AGCCCTCTTCTCCACCAAGG -3'
Posted On 2018-03-15