Incidental Mutation 'IGL00857:Prkab2'
ID 13158
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkab2
Ensembl Gene ENSMUSG00000038205
Gene Name protein kinase, AMP-activated, beta 2 non-catalytic subunit
Synonyms 5730553K21Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.491) question?
Stock # IGL00857
Quality Score
Status
Chromosome 3
Chromosomal Location 97565527-97581128 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 97569659 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q6PAM0
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
Acr A G 15: 89,454,205 (GRCm39) T181A probably benign Het
Anks3 T A 16: 4,771,793 (GRCm39) H77L possibly damaging Het
Cacna1d A T 14: 30,072,638 (GRCm39) N112K possibly damaging Het
Cd164 A G 10: 41,404,691 (GRCm39) T150A probably benign Het
Cfap57 C T 4: 118,470,120 (GRCm39) probably null Het
Cntnap2 C A 6: 47,026,358 (GRCm39) N61K probably benign Het
Cstdc1 A G 2: 148,624,170 (GRCm39) D48G possibly damaging Het
Cyp4f39 A G 17: 32,708,631 (GRCm39) I393V probably benign Het
Dcaf11 A T 14: 55,798,742 (GRCm39) probably benign Het
Defb7 G A 8: 19,547,594 (GRCm39) R33Q possibly damaging Het
Dmxl2 T C 9: 54,283,604 (GRCm39) Y2743C probably benign Het
Enpp2 A G 15: 54,739,046 (GRCm39) probably null Het
Fam135b T A 15: 71,335,465 (GRCm39) E576D probably benign Het
Gfpt1 T A 6: 87,033,145 (GRCm39) N123K probably damaging Het
Hnmt T C 2: 23,893,795 (GRCm39) D233G probably benign Het
Hsd3b2 T A 3: 98,618,859 (GRCm39) E362V possibly damaging Het
Hsdl2 T A 4: 59,617,735 (GRCm39) N487K probably benign Het
Hspa14 T C 2: 3,503,796 (GRCm39) Y83C probably damaging Het
Itm2b T C 14: 73,602,056 (GRCm39) N214S probably benign Het
Krt86 C T 15: 101,371,741 (GRCm39) H104Y probably benign Het
Myocd A T 11: 65,069,662 (GRCm39) V726D possibly damaging Het
Ncapg T A 5: 45,833,927 (GRCm39) probably null Het
Nrdc A T 4: 108,911,199 (GRCm39) I774F probably damaging Het
Pot1a T C 6: 25,744,627 (GRCm39) I626V probably benign Het
Sdr9c7 A G 10: 127,734,728 (GRCm39) Q72R probably benign Het
Slc16a7 A C 10: 125,066,803 (GRCm39) Y279D probably benign Het
Slc8a1 T A 17: 81,955,308 (GRCm39) T577S probably benign Het
Slitrk3 G A 3: 72,957,174 (GRCm39) L533F probably damaging Het
Tent5a C A 9: 85,206,806 (GRCm39) V331L possibly damaging Het
Tmeff1 T C 4: 48,610,435 (GRCm39) V102A probably damaging Het
Ttn G A 2: 76,583,099 (GRCm39) T22598I probably damaging Het
Ube4a C A 9: 44,843,684 (GRCm39) G977W probably damaging Het
Other mutations in Prkab2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R8313:Prkab2 UTSW 3 97,570,911 (GRCm39) missense probably benign 0.23
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
Posted On 2012-12-06