Incidental Mutation 'R6186:Prkab2'
ID 502155
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 044326-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.525) question?
Stock # R6186 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 97565527-97581128 bp(+) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) A to G at 97571307 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000036410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045743] [ENSMUST00000130924] [ENSMUST00000143927]
AlphaFold Q6PAM0
Predicted Effect probably null
Transcript: ENSMUST00000045743
SMART Domains Protein: ENSMUSP00000036410
Gene: ENSMUSG00000038205

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 probably benign
Transcript: ENSMUST00000143927
SMART Domains Protein: ENSMUSP00000115749
Gene: ENSMUSG00000038205

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb A G 10: 10,298,502 (GRCm39) S409P probably damaging Het
Adgrg5 T C 8: 95,660,652 (GRCm39) V93A possibly damaging Het
Akap8l C T 17: 32,552,018 (GRCm39) V420I probably benign Het
Ankrd36 T G 11: 5,593,812 (GRCm39) D472E possibly damaging Het
Apbb1 T C 7: 105,216,933 (GRCm39) E250G probably damaging Het
Cacna2d4 G A 6: 119,258,650 (GRCm39) E579K possibly damaging Het
Capn7 G T 14: 31,092,875 (GRCm39) G780W probably damaging Het
Celsr1 T C 15: 85,805,394 (GRCm39) E2419G possibly damaging Het
Cep164 A T 9: 45,705,407 (GRCm39) S363R probably damaging Het
Cfap221 T A 1: 119,862,340 (GRCm39) I581F probably damaging Het
Cog2 C A 8: 125,273,425 (GRCm39) T588N probably damaging Het
Cyp2a5 T C 7: 26,542,813 (GRCm39) probably benign Het
Cyp2j6 G C 4: 96,424,323 (GRCm39) L145V probably damaging Het
Evx1 T C 6: 52,291,203 (GRCm39) probably null Het
Fam186a T C 15: 99,845,206 (GRCm39) H346R unknown Het
Fam53b T A 7: 132,317,445 (GRCm39) D399V possibly damaging Het
Fcho2 T A 13: 98,951,591 (GRCm39) N9I probably benign Het
Fjx1 T C 2: 102,281,152 (GRCm39) E261G probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Fkbpl T C 17: 34,865,153 (GRCm39) F307S probably benign Het
Fn1 A G 1: 71,676,449 (GRCm39) I594T probably damaging Het
Inpp4b T A 8: 82,772,863 (GRCm39) V719E probably damaging Het
Ldlr C T 9: 21,635,055 (GRCm39) probably benign Het
Macf1 A G 4: 123,377,968 (GRCm39) V1419A probably damaging Het
Mapkap1 A G 2: 34,453,126 (GRCm39) T340A possibly damaging Het
Mark2 A G 19: 7,260,567 (GRCm39) V403A probably benign Het
Mast3 T C 8: 71,238,127 (GRCm39) T521A probably damaging Het
Mrtfa T C 15: 80,900,853 (GRCm39) K546R probably damaging Het
Myo1h C T 5: 114,457,864 (GRCm39) T125I possibly damaging Het
Ndufa8 A G 2: 35,929,752 (GRCm39) V118A probably benign Het
Nphs1 A G 7: 30,165,059 (GRCm39) T551A probably damaging Het
Or2k2 T C 4: 58,784,948 (GRCm39) Y258C probably damaging Het
Or4k15c T A 14: 50,321,982 (GRCm39) D52V probably damaging Het
Pcm1 T C 8: 41,746,830 (GRCm39) L1343P probably benign Het
Pdcd1 T A 1: 93,967,846 (GRCm39) R202* probably null Het
Pramel52-ps T A 5: 94,531,835 (GRCm39) Y240N probably benign Het
Ptdss2 T C 7: 140,734,862 (GRCm39) probably benign Het
Rap1b G T 10: 117,656,457 (GRCm39) F78L probably damaging Het
Rbl2 C T 8: 91,833,358 (GRCm39) T711I probably damaging Het
Rhobtb2 A G 14: 70,035,693 (GRCm39) I126T probably damaging Het
Rimoc1 C A 15: 4,015,851 (GRCm39) D238Y possibly damaging Het
Rnf123 A C 9: 107,947,157 (GRCm39) S210A possibly damaging Het
Shank1 T A 7: 44,001,990 (GRCm39) F1228L probably benign Het
Spata31f3 T C 4: 42,872,000 (GRCm39) K125R possibly damaging Het
Sumo1 C A 1: 59,683,729 (GRCm39) V38L probably benign Het
Sycp2 C T 2: 178,025,353 (GRCm39) S363N probably damaging Het
Tbx2 G T 11: 85,728,672 (GRCm39) E352* probably null Het
Timm44 T C 8: 4,316,824 (GRCm39) N270D probably damaging Het
Topaz1 A T 9: 122,577,891 (GRCm39) Q267L probably benign Het
Trp63 T C 16: 25,695,483 (GRCm39) probably benign Het
Ushbp1 T A 8: 71,843,647 (GRCm39) T264S possibly damaging Het
Vav3 A G 3: 109,423,383 (GRCm39) Y334C probably damaging Het
Wdr36 G C 18: 32,985,954 (GRCm39) A553P probably benign Het
Zfhx2 A T 14: 55,300,617 (GRCm39) I2378K probably damaging Het
Zfp276 T A 8: 123,982,672 (GRCm39) Y145* probably null Het
Zfp458 T C 13: 67,405,701 (GRCm39) E246G probably damaging Het
Zfp526 A G 7: 24,925,561 (GRCm39) T607A 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
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
Predicted Primers PCR Primer
(F):5'- TGCTAGAGACTTGTCATAGCAG -3'
(R):5'- AGGCAGACATTATACCATGGG -3'

Sequencing Primer
(F):5'- CGATGTGGATTGAAAAGGGTATCC -3'
(R):5'- GGCAGACATTATACCATGGGATTTG -3'
Posted On 2018-02-27