Incidental Mutation 'R1615:Prkag2'
ID 177039
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 039652-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1615 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 25067742-25305640 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 25080176 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 120 (N120K)
Ref Sequence ENSEMBL: ENSMUSP00000110626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030784] [ENSMUST00000076306] [ENSMUST00000114975] [ENSMUST00000131486] [ENSMUST00000150135]
AlphaFold Q91WG5
Predicted Effect possibly damaging
Transcript: ENSMUST00000030784
AA Change: N360K

PolyPhen 2 Score 0.557 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000030784
Gene: ENSMUSG00000028944
AA Change: N360K

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: N237K

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000075651
Gene: ENSMUSG00000028944
AA Change: N237K

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000114975
AA Change: N120K

PolyPhen 2 Score 0.557 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000110626
Gene: ENSMUSG00000028944
AA Change: N120K

DomainStartEndE-ValueType
CBS 36 85 7.01e-6 SMART
CBS 117 166 4.28e-10 SMART
CBS 192 240 8.11e-11 SMART
CBS 264 312 3.62e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123610
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129022
Predicted Effect probably benign
Transcript: ENSMUST00000131486
AA Change: N102K

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000115760
Gene: ENSMUSG00000028944
AA Change: N102K

DomainStartEndE-ValueType
CBS 18 67 7.01e-6 SMART
CBS 99 148 4.28e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150135
AA Change: N121K

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000114978
Gene: ENSMUSG00000028944
AA Change: N121K

DomainStartEndE-ValueType
CBS 37 86 7.01e-6 SMART
CBS 118 167 4.28e-10 SMART
CBS 193 241 8.11e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139698
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135525
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 88.8%
Validation Efficiency 98% (64/65)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 A T 15: 64,743,625 (GRCm39) C328S probably benign Het
Adgrv1 G T 13: 81,572,407 (GRCm39) T4918K probably benign Het
Aen T C 7: 78,555,660 (GRCm39) Y108H probably damaging Het
Amer3 T C 1: 34,627,252 (GRCm39) M497T probably damaging Het
Arid2 C T 15: 96,269,535 (GRCm39) T1216M possibly damaging Het
Birc6 A G 17: 74,916,404 (GRCm39) probably null Het
Bzw2 A G 12: 36,169,126 (GRCm39) probably benign Het
Ccr1 T C 9: 123,763,573 (GRCm39) H319R probably benign Het
Dnah11 A G 12: 118,014,457 (GRCm39) I2010T probably damaging Het
Dnhd1 A G 7: 105,352,413 (GRCm39) Y2522C probably benign Het
Dnhd1 T A 7: 105,362,913 (GRCm39) I3825K possibly damaging Het
Dst A T 1: 34,238,452 (GRCm39) D3718V probably damaging Het
Esp36 A G 17: 38,730,330 (GRCm39) probably benign Het
Fbxw21 T C 9: 108,972,794 (GRCm39) Y380C probably damaging Het
Fhad1 G A 4: 141,649,634 (GRCm39) T836M probably damaging Het
Fhod1 C T 8: 106,074,463 (GRCm39) probably benign Het
Flt1 A G 5: 147,576,098 (GRCm39) C637R probably damaging Het
Fmnl2 A G 2: 53,008,436 (GRCm39) K809E probably damaging Het
Grm1 G T 10: 10,617,252 (GRCm39) Y510* probably null Het
Hey1 A T 3: 8,729,898 (GRCm39) H186Q possibly damaging Het
Insyn1 C T 9: 58,406,351 (GRCm39) A87V probably damaging Het
Itga2b C T 11: 102,350,963 (GRCm39) probably null Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Lmcd1 A G 6: 112,250,911 (GRCm39) D7G probably benign Het
Lrrc1 T C 9: 77,342,400 (GRCm39) D358G possibly damaging Het
Lyn A G 4: 3,748,765 (GRCm39) K248E probably benign Het
Map4k4 A G 1: 40,045,990 (GRCm39) probably benign Het
Map4k5 A T 12: 69,891,187 (GRCm39) L160H probably damaging Het
Mtcl2 T G 2: 156,862,663 (GRCm39) H1422P probably damaging Het
Myo6 C T 9: 80,215,007 (GRCm39) R1247C probably damaging Het
Myo9a A G 9: 59,695,739 (GRCm39) E347G possibly damaging Het
Ndfip1 C T 18: 38,593,672 (GRCm39) P213S probably benign Het
Neurl3 T C 1: 36,308,470 (GRCm39) E114G possibly damaging Het
Nlrp14 A T 7: 106,795,370 (GRCm39) I877F probably benign Het
Obscn A G 11: 58,990,651 (GRCm39) S1733P probably benign Het
Oxgr1 A T 14: 120,260,185 (GRCm39) S7R probably benign Het
Plcb1 A T 2: 135,204,364 (GRCm39) probably benign Het
Rnf43 C T 11: 87,622,485 (GRCm39) R529* probably null Het
Saraf A G 8: 34,632,442 (GRCm39) K174E possibly damaging Het
Scrib T C 15: 75,938,054 (GRCm39) Q264R probably benign Het
Sh3rf3 T A 10: 58,966,899 (GRCm39) M747K probably benign Het
Shf T C 2: 122,179,913 (GRCm39) H421R probably damaging Het
Slc35g3 A G 11: 69,651,368 (GRCm39) S228P probably damaging Het
Slit1 A G 19: 41,639,110 (GRCm39) probably benign Het
Srrm4 A G 5: 116,585,359 (GRCm39) probably benign Het
Stfa1 T G 16: 36,100,829 (GRCm39) V23G probably damaging Het
Swap70 A G 7: 109,872,498 (GRCm39) D371G probably benign Het
Tada2a T C 11: 83,993,926 (GRCm39) D186G probably damaging Het
Tdpoz3 C A 3: 93,733,618 (GRCm39) Q98K probably benign Het
Tgfbrap1 A G 1: 43,091,145 (GRCm39) V660A probably benign Het
Tnn A G 1: 159,945,978 (GRCm39) Y947H possibly damaging Het
Trim60 A T 8: 65,453,162 (GRCm39) C362* probably null Het
Vmn1r81 T A 7: 11,994,441 (GRCm39) N56Y probably damaging Het
Vsig8 A G 1: 172,387,280 (GRCm39) D52G probably damaging Het
Wdfy4 G A 14: 32,764,469 (GRCm39) R2140C 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
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'- TCTACTGATGCTGCCACAGGTGAG -3'
(R):5'- TGACTGCAAACAGTCGTTTGGGG -3'

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