Incidental Mutation 'IGL00857:Prkab2'
ID13158
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkab2
Ensembl Gene ENSMUSG00000038205
Gene Nameprotein kinase, AMP-activated, beta 2 non-catalytic subunit
Synonyms5730553K21Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.389) question?
Stock #IGL00857
Quality Score
Status
Chromosome3
Chromosomal Location97658193-97673812 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 97662343 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 75 (A75V)
Ref Sequence ENSEMBL: ENSMUSP00000115749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045743] [ENSMUST00000130924] [ENSMUST00000143927]
Predicted Effect probably benign
Transcript: ENSMUST00000045743
AA Change: A75V

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000036410
Gene: ENSMUSG00000038205
AA Change: A75V

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 noncoding transcript
Transcript: ENSMUST00000132719
Predicted Effect possibly damaging
Transcript: ENSMUST00000143927
AA Change: A75V

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000115749
Gene: ENSMUSG00000038205
AA Change: A75V

DomainStartEndE-ValueType
PDB:4CFF|D 1 176 1e-68 PDB
Blast:AMPKBI 91 176 6e-50 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152731
Coding Region Coverage
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8030411F24Rik A G 2: 148,782,250 D48G possibly damaging Het
Acr A G 15: 89,570,002 T181A probably benign Het
Anks3 T A 16: 4,953,929 H77L possibly damaging Het
Cacna1d A T 14: 30,350,681 N112K possibly damaging Het
Cd164 A G 10: 41,528,695 T150A probably benign Het
Cfap57 C T 4: 118,612,923 probably null Het
Cntnap2 C A 6: 47,049,424 N61K probably benign Het
Cyp4f39 A G 17: 32,489,657 I393V probably benign Het
Dcaf11 A T 14: 55,561,285 probably benign Het
Defb7 G A 8: 19,497,578 R33Q possibly damaging Het
Dmxl2 T C 9: 54,376,320 Y2743C probably benign Het
Enpp2 A G 15: 54,875,650 probably null Het
Fam135b T A 15: 71,463,616 E576D probably benign Het
Fam46a C A 9: 85,324,753 V331L possibly damaging Het
Gfpt1 T A 6: 87,056,163 N123K probably damaging Het
Hnmt T C 2: 24,003,783 D233G probably benign Het
Hsd3b2 T A 3: 98,711,543 E362V possibly damaging Het
Hsdl2 T A 4: 59,617,735 N487K probably benign Het
Hspa14 T C 2: 3,502,759 Y83C probably damaging Het
Itm2b T C 14: 73,364,616 N214S probably benign Het
Krt86 C T 15: 101,473,860 H104Y probably benign Het
Myocd A T 11: 65,178,836 V726D possibly damaging Het
Ncapg T A 5: 45,676,585 probably null Het
Nrd1 A T 4: 109,054,002 I774F probably damaging Het
Pot1a T C 6: 25,744,628 I626V probably benign Het
Sdr9c7 A G 10: 127,898,859 Q72R probably benign Het
Slc16a7 A C 10: 125,230,934 Y279D probably benign Het
Slc8a1 T A 17: 81,647,879 T577S probably benign Het
Slitrk3 G A 3: 73,049,841 L533F probably damaging Het
Tmeff1 T C 4: 48,610,435 V102A probably damaging Het
Ttn G A 2: 76,752,755 T22598I probably damaging Het
Ube4a C A 9: 44,932,386 G977W probably damaging Het
Other mutations in Prkab2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
Z1177:Prkab2 UTSW 3 97662361 missense probably damaging 0.99
Posted On2012-12-06