Incidental Mutation 'R8313:Prkab2'
ID 641485
Institutional Source Beutler Lab
Gene Symbol Prkab2
Ensembl Gene ENSMUSG00000038205
Gene Name protein kinase, AMP-activated, beta 2 non-catalytic subunit
Synonyms 5730553K21Rik
MMRRC Submission 067797-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.525) question?
Stock # R8313 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 97565527-97581128 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 97570911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 112 (V112F)
Ref Sequence ENSEMBL: ENSMUSP00000036410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045743] [ENSMUST00000130924] [ENSMUST00000143927]
AlphaFold Q6PAM0
Predicted Effect probably benign
Transcript: ENSMUST00000045743
AA Change: V112F

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000036410
Gene: ENSMUSG00000038205
AA Change: V112F

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
Pfam:AMPK1_CBM 76 160 1.1e-38 PFAM
AMPKBI 181 271 6.31e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130924
SMART Domains Protein: ENSMUSP00000116622
Gene: ENSMUSG00000038205

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000143927
AA Change: V112F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115749
Gene: ENSMUSG00000038205
AA Change: V112F

DomainStartEndE-ValueType
PDB:4CFF|D 1 176 1e-68 PDB
Blast:AMPKBI 91 176 6e-50 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 99.0%
Validation Efficiency
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 may be a positive regulator of AMPK activity. It is highly expressed in skeletal muscle and thus may have tissue-specific roles. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased exercise endurance, muscle force, muscle and liver glycogen, and skeletal muscle fiber size and increased susceptibility to diet induced obesity and hyperinsulinemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkal2 G T 12: 30,934,850 (GRCm39) G23V probably damaging Het
Atl2 C T 17: 80,160,033 (GRCm39) W518* probably null Het
Atp13a2 G A 4: 140,730,046 (GRCm39) V646I probably benign Het
Bcar1 A T 8: 112,440,270 (GRCm39) F575I probably benign Het
Bpifa6 T A 2: 153,831,178 (GRCm39) L248* probably null Het
Ccdc38 T C 10: 93,399,111 (GRCm39) L193P probably damaging Het
Ch25h A C 19: 34,452,138 (GRCm39) I130S probably benign Het
Chaf1a C A 17: 56,351,109 (GRCm39) Q30K unknown Het
Dab2ip T C 2: 35,617,440 (GRCm39) L1106S probably damaging Het
Dnah3 A G 7: 119,550,375 (GRCm39) Y3315H probably benign Het
Dnah7b G A 1: 46,214,456 (GRCm39) V1074I possibly damaging Het
Efemp1 A G 11: 28,860,691 (GRCm39) Q200R probably benign Het
Eif1ad3 A T 12: 87,843,764 (GRCm39) D137V unknown Het
Epx C T 11: 87,763,557 (GRCm39) R221Q possibly damaging Het
Exosc7 T C 9: 122,956,942 (GRCm39) L109P probably damaging Het
Fbxo22 T A 9: 55,128,344 (GRCm39) F222I probably damaging Het
Fcgbp A G 7: 27,785,769 (GRCm39) D402G probably benign Het
Foxr1 A G 9: 44,347,351 (GRCm39) V62A probably damaging Het
Gm8267 A T 14: 44,961,515 (GRCm39) H59Q probably damaging Het
Gnptab T A 10: 88,275,071 (GRCm39) Y1090N probably damaging Het
Gpr20 A G 15: 73,568,161 (GRCm39) F76S probably damaging Het
Gpr33 A G 12: 52,070,907 (GRCm39) V44A probably benign Het
Grin3a G A 4: 49,665,599 (GRCm39) T1012I probably benign Het
Itga1 T A 13: 115,103,120 (GRCm39) T1104S probably benign Het
Kidins220 T A 12: 25,054,110 (GRCm39) Y537N probably damaging Het
Lama1 A G 17: 68,057,515 (GRCm39) T530A Het
Lysmd2 A T 9: 75,533,040 (GRCm39) probably benign Het
Mdk T C 2: 91,761,178 (GRCm39) K128E unknown Het
Mphosph8 AC A 14: 56,916,062 (GRCm39) probably null Het
Muc16 A C 9: 18,436,443 (GRCm39) L7915W possibly damaging Het
Muc4 A T 16: 32,753,423 (GRCm38) T1100S probably benign Het
Mxra7 T C 11: 116,695,376 (GRCm39) Y176C probably damaging Het
Myh15 C A 16: 48,940,381 (GRCm39) T777N probably damaging Het
Myo18b A G 5: 113,023,045 (GRCm39) S116P unknown Het
Noc3l A G 19: 38,784,254 (GRCm39) L543P probably damaging Het
Or5h24 C T 16: 58,919,004 (GRCm39) G117D unknown Het
Or7a39 C T 10: 78,715,170 (GRCm39) P55S probably benign Het
Or8c10 T A 9: 38,279,346 (GRCm39) V168E probably damaging Het
Pkm G T 9: 59,575,902 (GRCm39) R106L probably benign Het
Prkaca A T 8: 84,717,151 (GRCm39) N172Y probably damaging Het
Prmt8 A G 6: 127,666,813 (GRCm39) V387A probably benign Het
Rad17 T C 13: 100,761,074 (GRCm39) T485A probably benign Het
Rita1 G T 5: 120,747,716 (GRCm39) T194K possibly damaging Het
Rogdi C A 16: 4,831,313 (GRCm39) probably benign Het
Senp5 T C 16: 31,808,117 (GRCm39) D379G probably benign Het
Slc4a4 A G 5: 89,194,122 (GRCm39) K201E possibly damaging Het
Slc9a4 C T 1: 40,619,520 (GRCm39) probably benign Het
Tmem175 T A 5: 108,791,075 (GRCm39) S208R probably benign Het
Tmem237 A T 1: 59,147,237 (GRCm39) Y299N probably damaging Het
Tnrc6a T A 7: 122,769,936 (GRCm39) N575K possibly damaging Het
Trak2 A T 1: 58,960,306 (GRCm39) C232* probably null Het
Ubr3 A G 2: 69,775,478 (GRCm39) H589R probably damaging Het
Vcp T C 4: 42,988,728 (GRCm39) T249A possibly damaging Het
Vmn1r208 G C 13: 22,956,947 (GRCm39) I183M probably benign Het
Vmn1r231 C T 17: 21,110,289 (GRCm39) V209I probably benign Het
Vmn1r80 T C 7: 11,926,994 (GRCm39) F35L probably benign Het
Vmn2r58 A T 7: 41,521,952 (GRCm39) I48N probably benign Het
Vstm2a T A 11: 16,231,898 (GRCm39) V231E probably damaging Het
Zfp108 A C 7: 23,960,087 (GRCm39) Y226S possibly damaging Het
Zfp445 A T 9: 122,682,695 (GRCm39) N415K possibly damaging Het
Zfp938 T G 10: 82,061,422 (GRCm39) R399S possibly damaging Het
Zmym4 G A 4: 126,804,762 (GRCm39) H464Y probably benign Het
Other mutations in Prkab2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00857:Prkab2 APN 3 97,569,659 (GRCm39) missense possibly damaging 0.95
dire UTSW 3 97,566,063 (GRCm39) missense probably damaging 0.99
R0255:Prkab2 UTSW 3 97,574,728 (GRCm39) nonsense probably null
R0377:Prkab2 UTSW 3 97,569,633 (GRCm39) missense probably benign
R1500:Prkab2 UTSW 3 97,571,263 (GRCm39) missense probably damaging 1.00
R1952:Prkab2 UTSW 3 97,573,943 (GRCm39) missense probably benign 0.00
R2114:Prkab2 UTSW 3 97,574,711 (GRCm39) missense possibly damaging 0.49
R2437:Prkab2 UTSW 3 97,574,715 (GRCm39) missense probably damaging 1.00
R4935:Prkab2 UTSW 3 97,569,671 (GRCm39) missense probably damaging 1.00
R5085:Prkab2 UTSW 3 97,580,308 (GRCm39) unclassified probably benign
R5566:Prkab2 UTSW 3 97,569,609 (GRCm39) missense probably benign 0.21
R6186:Prkab2 UTSW 3 97,571,307 (GRCm39) splice site probably null
R7477:Prkab2 UTSW 3 97,566,063 (GRCm39) missense probably damaging 0.99
R8291:Prkab2 UTSW 3 97,569,605 (GRCm39) missense possibly damaging 0.94
R8442:Prkab2 UTSW 3 97,566,002 (GRCm39) missense probably damaging 1.00
R8955:Prkab2 UTSW 3 97,573,943 (GRCm39) missense probably benign 0.00
Z1177:Prkab2 UTSW 3 97,569,677 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AACTGCTAAGGTGTGCAGGG -3'
(R):5'- TAACCACAGGCTGAAACAGTG -3'

Sequencing Primer
(F):5'- CAGGGGTAGGGTGCACAC -3'
(R):5'- CCTGCTATGACAAGTCTCTAGC -3'
Posted On 2020-07-28