Incidental Mutation 'R8313:Prkab2'
ID641485
Institutional Source Beutler Lab
Gene Symbol Prkab2
Ensembl Gene ENSMUSG00000038205
Gene Nameprotein kinase, AMP-activated, beta 2 non-catalytic subunit
Synonyms5730553K21Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.290) question?
Stock #R8313 (G1)
Quality Score225.009
Status Not validated
Chromosome3
Chromosomal Location97658193-97673812 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 97663595 bp
ZygosityHeterozygous
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]
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
Atl2 C T 17: 79,852,604 W518* probably null Het
Atp13a2 G A 4: 141,002,735 V646I probably benign Het
Bcar1 A T 8: 111,713,638 F575I probably benign Het
Bpifa6 T A 2: 153,989,258 L248* probably null Het
Ccdc38 T C 10: 93,563,249 L193P probably damaging Het
Ch25h A C 19: 34,474,738 I130S probably benign Het
Chaf1a C A 17: 56,044,109 Q30K unknown Het
Dab2ip T C 2: 35,727,428 L1106S probably damaging Het
Dnah3 A G 7: 119,951,152 Y3315H probably benign Het
Dnah7b G A 1: 46,175,296 V1074I possibly damaging Het
Efemp1 A G 11: 28,910,691 Q200R probably benign Het
Epx C T 11: 87,872,731 R221Q possibly damaging Het
Exosc7 T C 9: 123,127,877 L109P probably damaging Het
Fam150b G T 12: 30,884,851 G23V probably damaging Het
Fbxo22 T A 9: 55,221,060 F222I probably damaging Het
Fcgbp A G 7: 28,086,344 D402G probably benign Het
Foxr1 A G 9: 44,436,054 V62A probably damaging Het
Gm2016 A T 12: 87,876,994 D137V unknown Het
Gm8267 A T 14: 44,724,058 H59Q probably damaging Het
Gnptab T A 10: 88,439,209 Y1090N probably damaging Het
Gpr20 A G 15: 73,696,312 F76S probably damaging Het
Gpr33 A G 12: 52,024,124 V44A probably benign Het
Grin3a G A 4: 49,665,599 T1012I probably benign Het
Itga1 T A 13: 114,966,584 T1104S probably benign Het
Kidins220 T A 12: 25,004,111 Y537N probably damaging Het
Lama1 A G 17: 67,750,520 T530A Het
Lysmd2 A T 9: 75,625,758 probably benign Het
Mdk T C 2: 91,930,833 K128E unknown Het
Mphosph8 AC A 14: 56,678,605 probably null Het
Muc16 A C 9: 18,525,147 L7915W possibly damaging Het
Muc4 A T 16: 32,753,423 T1100S probably benign Het
Mxra7 T C 11: 116,804,550 Y176C probably damaging Het
Myh15 C A 16: 49,120,018 T777N probably damaging Het
Myo18b A G 5: 112,875,179 S116P unknown Het
Noc3l A G 19: 38,795,810 L543P probably damaging Het
Olfr1355 C T 10: 78,879,336 P55S probably benign Het
Olfr192 C T 16: 59,098,641 G117D unknown Het
Olfr250 T A 9: 38,368,050 V168E probably damaging Het
Pkm G T 9: 59,668,619 R106L probably benign Het
Prkaca A T 8: 83,990,522 N172Y probably damaging Het
Prmt8 A G 6: 127,689,850 V387A probably benign Het
Rad17 T C 13: 100,624,566 T485A probably benign Het
Rita1 G T 5: 120,609,651 T194K possibly damaging Het
Rogdi C A 16: 5,013,449 probably benign Het
Senp5 T C 16: 31,989,299 D379G probably benign Het
Slc4a4 A G 5: 89,046,263 K201E possibly damaging Het
Slc9a4 C T 1: 40,580,360 probably benign Het
Tmem175 T A 5: 108,643,209 S208R probably benign Het
Tmem237 A T 1: 59,108,078 Y299N probably damaging Het
Tnrc6a T A 7: 123,170,713 N575K possibly damaging Het
Trak2 A T 1: 58,921,147 C232* probably null Het
Ubr3 A G 2: 69,945,134 H589R probably damaging Het
Vcp T C 4: 42,988,728 T249A possibly damaging Het
Vmn1r208 G C 13: 22,772,777 I183M probably benign Het
Vmn1r231 C T 17: 20,890,027 V209I probably benign Het
Vmn1r80 T C 7: 12,193,067 F35L probably benign Het
Vmn2r58 A T 7: 41,872,528 I48N probably benign Het
Vstm2a T A 11: 16,281,898 V231E probably damaging Het
Zfp108 A C 7: 24,260,662 Y226S possibly damaging Het
Zfp445 A T 9: 122,853,630 N415K possibly damaging Het
Zfp938 T G 10: 82,225,588 R399S possibly damaging Het
Zmym4 G A 4: 126,910,969 H464Y probably benign Het
Other mutations in Prkab2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00857:Prkab2 APN 3 97662343 missense possibly damaging 0.95
dire UTSW 3 97658747 missense probably damaging 0.99
R0255:Prkab2 UTSW 3 97667412 nonsense probably null
R0377:Prkab2 UTSW 3 97662317 missense probably benign
R1500:Prkab2 UTSW 3 97663947 missense probably damaging 1.00
R1952:Prkab2 UTSW 3 97666627 missense probably benign 0.00
R2114:Prkab2 UTSW 3 97667395 missense possibly damaging 0.49
R2437:Prkab2 UTSW 3 97667399 missense probably damaging 1.00
R4935:Prkab2 UTSW 3 97662355 missense probably damaging 1.00
R5085:Prkab2 UTSW 3 97672992 unclassified probably benign
R5566:Prkab2 UTSW 3 97662293 missense probably benign 0.21
R6186:Prkab2 UTSW 3 97663991 splice site probably null
R7477:Prkab2 UTSW 3 97658747 missense probably damaging 0.99
R8291:Prkab2 UTSW 3 97662289 missense possibly damaging 0.94
R8442:Prkab2 UTSW 3 97658686 missense probably damaging 1.00
Z1177:Prkab2 UTSW 3 97662361 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 On2020-07-28