Incidental Mutation 'R0002:Prkag3'
ID 157128
Institutional Source Beutler Lab
Gene Symbol Prkag3
Ensembl Gene ENSMUSG00000006542
Gene Name protein kinase, AMP-activated, gamma 3 non-catalytic subunit
Synonyms AMPKg3, AMPKg3S, AMPKg3L
MMRRC Submission 038298-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R0002 (G1)
Quality Score 78
Status Validated
Chromosome 1
Chromosomal Location 74778081-74788380 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74783947 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 312 (D312G)
Ref Sequence ENSEMBL: ENSMUSP00000139909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081636] [ENSMUST00000113672] [ENSMUST00000159728] [ENSMUST00000160732] [ENSMUST00000162093] [ENSMUST00000188073]
AlphaFold Q8BGM7
Predicted Effect probably damaging
Transcript: ENSMUST00000081636
AA Change: D312G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000080342
Gene: ENSMUSG00000006542
AA Change: D312G

DomainStartEndE-ValueType
low complexity region 63 77 N/A INTRINSIC
CBS 202 251 2.66e-6 SMART
CBS 283 332 7.57e-11 SMART
CBS 358 406 8.69e-11 SMART
CBS 430 478 3.73e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113672
AA Change: D287G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000109302
Gene: ENSMUSG00000006542
AA Change: D287G

DomainStartEndE-ValueType
low complexity region 38 52 N/A INTRINSIC
CBS 177 226 2.66e-6 SMART
CBS 258 307 7.57e-11 SMART
CBS 333 381 8.69e-11 SMART
CBS 405 453 3.73e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159728
Predicted Effect probably damaging
Transcript: ENSMUST00000160732
AA Change: D312G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125344
Gene: ENSMUSG00000006542
AA Change: D312G

DomainStartEndE-ValueType
low complexity region 63 77 N/A INTRINSIC
CBS 202 251 2.66e-6 SMART
CBS 283 332 7.57e-11 SMART
CBS 358 406 8.69e-11 SMART
CBS 430 478 3.73e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162093
SMART Domains Protein: ENSMUSP00000125242
Gene: ENSMUSG00000006542

DomainStartEndE-ValueType
low complexity region 63 77 N/A INTRINSIC
CBS 202 251 2.66e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000188073
AA Change: D312G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000139909
Gene: ENSMUSG00000006542
AA Change: D312G

DomainStartEndE-ValueType
low complexity region 63 77 N/A INTRINSIC
CBS 202 251 2.66e-6 SMART
CBS 283 332 7.57e-11 SMART
CBS 358 406 8.69e-11 SMART
CBS 430 478 3.73e-10 SMART
Meta Mutation Damage Score 0.8356 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 97% (36/37)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit is one of the gamma regulatory subunits of AMPK. It is dominantly expressed in skeletal muscle. Studies of the pig counterpart suggest that this subunit may play a key role in the regulation of energy metabolism in skeletal muscle. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display impaired glycogen synthesis after exercise. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl2 T C 1: 106,640,241 (GRCm39) R124G possibly damaging Het
Catsper1 A G 19: 5,391,551 (GRCm39) probably benign Het
Ccdc125 C T 13: 100,830,114 (GRCm39) Q295* probably null Het
Cdhr5 G T 7: 140,849,933 (GRCm39) probably null Het
Dhx36 A C 3: 62,388,260 (GRCm39) L625W probably damaging Het
Icam5 T A 9: 20,944,801 (GRCm39) D121E probably benign Het
Ncoa1 A G 12: 4,340,885 (GRCm39) V849A probably benign Het
Nuak1 A T 10: 84,211,231 (GRCm39) W286R probably damaging Het
Pate14 A T 9: 36,548,655 (GRCm39) D59E probably damaging Het
Sbk3 T C 7: 4,973,630 (GRCm39) D17G probably damaging Het
Slc26a5 T A 5: 22,019,981 (GRCm39) I530F probably damaging Het
Spink12 T C 18: 44,240,763 (GRCm39) C50R probably damaging Het
Sult3a2 T C 10: 33,655,803 (GRCm39) I59V possibly damaging Het
Tapbp C T 17: 34,144,606 (GRCm39) A234V probably damaging Het
Tnr T C 1: 159,701,770 (GRCm39) Y624H probably damaging Het
Zfp560 T C 9: 20,258,813 (GRCm39) Y683C probably damaging Het
Other mutations in Prkag3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02085:Prkag3 APN 1 74,787,971 (GRCm39) splice site probably benign
IGL02139:Prkag3 APN 1 74,779,883 (GRCm39) missense probably benign 0.14
P0023:Prkag3 UTSW 1 74,779,898 (GRCm39) missense probably damaging 1.00
R0002:Prkag3 UTSW 1 74,783,947 (GRCm39) missense probably damaging 1.00
R0256:Prkag3 UTSW 1 74,780,330 (GRCm39) missense probably benign 0.01
R0547:Prkag3 UTSW 1 74,783,879 (GRCm39) critical splice donor site probably null
R1314:Prkag3 UTSW 1 74,786,343 (GRCm39) missense probably damaging 1.00
R1484:Prkag3 UTSW 1 74,779,919 (GRCm39) missense probably damaging 1.00
R2842:Prkag3 UTSW 1 74,780,334 (GRCm39) missense probably benign 0.30
R4739:Prkag3 UTSW 1 74,779,864 (GRCm39) makesense probably null
R5159:Prkag3 UTSW 1 74,780,646 (GRCm39) missense probably damaging 1.00
R5876:Prkag3 UTSW 1 74,787,975 (GRCm39) critical splice donor site probably benign
R5989:Prkag3 UTSW 1 74,780,433 (GRCm39) missense probably benign 0.00
R7444:Prkag3 UTSW 1 74,786,425 (GRCm39) missense probably benign 0.00
R7553:Prkag3 UTSW 1 74,783,894 (GRCm39) missense probably damaging 1.00
R7630:Prkag3 UTSW 1 74,783,894 (GRCm39) missense probably damaging 1.00
R7922:Prkag3 UTSW 1 74,780,416 (GRCm39) missense probably benign 0.10
R7974:Prkag3 UTSW 1 74,783,980 (GRCm39) missense probably benign 0.14
R7994:Prkag3 UTSW 1 74,786,414 (GRCm39) missense probably benign
R8084:Prkag3 UTSW 1 74,786,366 (GRCm39) missense probably damaging 1.00
R8115:Prkag3 UTSW 1 74,787,118 (GRCm39) missense possibly damaging 0.49
R8387:Prkag3 UTSW 1 74,784,854 (GRCm39) critical splice donor site probably null
R9015:Prkag3 UTSW 1 74,780,353 (GRCm39) missense probably benign 0.05
R9489:Prkag3 UTSW 1 74,786,378 (GRCm39) missense probably damaging 1.00
R9576:Prkag3 UTSW 1 74,787,082 (GRCm39) missense
R9605:Prkag3 UTSW 1 74,786,378 (GRCm39) missense probably damaging 1.00
Z1177:Prkag3 UTSW 1 74,787,184 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- AATCTCGGAATGTGCCGATGCC -3'
(R):5'- AGTCTCCATCTCTCCCAATGACAGG -3'

Sequencing Primer
(F):5'- CGATGCCCAAGTCTTGGATAG -3'
(R):5'- ctctctctctctctctctctctc -3'
Posted On 2014-02-14