Incidental Mutation 'R0377:Prkab2'
ID 30787
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 038583-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.525) question?
Stock # R0377 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 97565527-97581128 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 97569633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 66 (D66E)
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: D66E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000036410
Gene: ENSMUSG00000038205
AA Change: D66E

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
AA Change: D66E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115749
Gene: ENSMUSG00000038205
AA Change: D66E

DomainStartEndE-ValueType
PDB:4CFF|D 1 176 1e-68 PDB
Blast:AMPKBI 91 176 6e-50 BLAST
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.8%
Validation Efficiency 97% (67/69)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 C A 11: 94,265,922 (GRCm39) V107F possibly damaging Het
Acad11 T A 9: 103,958,891 (GRCm39) probably benign Het
Ache G A 5: 137,289,190 (GRCm39) E299K possibly damaging Het
Adam5 T C 8: 25,237,557 (GRCm39) T618A probably benign Het
Amigo2 T A 15: 97,144,261 (GRCm39) T54S possibly damaging Het
Anapc1 A G 2: 128,483,260 (GRCm39) probably null Het
Btaf1 A G 19: 36,966,402 (GRCm39) K1057E probably benign Het
Cep55 T A 19: 38,060,337 (GRCm39) L396* probably null Het
Cic C A 7: 24,985,224 (GRCm39) H1157N probably damaging Het
Cntnap5a A T 1: 116,220,259 (GRCm39) T690S probably benign Het
D5Ertd579e A T 5: 36,761,911 (GRCm39) C1319S probably benign Het
Dnah6 A G 6: 73,098,975 (GRCm39) S2027P possibly damaging Het
Dnai4 A G 4: 102,905,456 (GRCm39) V775A probably damaging Het
Dntt G A 19: 41,036,066 (GRCm39) W369* probably null Het
Esp18 T A 17: 39,720,835 (GRCm39) W27R probably benign Het
Fam227b A T 2: 125,966,920 (GRCm39) probably benign Het
Fbxo31 G A 8: 122,285,841 (GRCm39) probably benign Het
Gm13547 G A 2: 29,651,803 (GRCm39) probably null Het
Gnl2 T A 4: 124,940,175 (GRCm39) probably benign Het
Gpx2 G A 12: 76,841,930 (GRCm39) Q74* probably null Het
Gucy2c A G 6: 136,727,915 (GRCm39) probably null Het
Hoxa5 A T 6: 52,179,626 (GRCm39) W250R probably damaging Het
Izumo4 G A 10: 80,538,674 (GRCm39) R42H probably damaging Het
Kcnj12 G A 11: 60,960,222 (GRCm39) M71I probably benign Het
Kmt2b A T 7: 30,273,618 (GRCm39) L2333Q probably damaging Het
Mak T C 13: 41,202,824 (GRCm39) E177G probably damaging Het
Map3k7 T A 4: 31,985,731 (GRCm39) I218N probably damaging Het
Mark3 T C 12: 111,595,463 (GRCm39) L393P probably damaging Het
Msh4 A G 3: 153,602,527 (GRCm39) S234P probably benign Het
Mug1 A G 6: 121,834,320 (GRCm39) D367G probably benign Het
Mypn A G 10: 62,963,401 (GRCm39) probably benign Het
Ncapg T C 5: 45,851,159 (GRCm39) V784A probably benign Het
Nutf2 T A 8: 106,605,504 (GRCm39) V113D probably damaging Het
Odad2 G A 18: 7,127,415 (GRCm39) R933C probably benign Het
Opn3 T C 1: 175,491,260 (GRCm39) M258V probably damaging Het
Or8k33 A T 2: 86,383,927 (GRCm39) D180E probably damaging Het
Osbpl7 A G 11: 96,946,760 (GRCm39) D211G probably damaging Het
Pcnx1 C T 12: 82,021,353 (GRCm39) probably benign Het
Plekhd1 G A 12: 80,753,210 (GRCm39) probably benign Het
Pnpla6 A G 8: 3,591,501 (GRCm39) E1165G probably damaging Het
Prpsap2 A G 11: 61,631,826 (GRCm39) I177T possibly damaging Het
Ptpn23 A T 9: 110,217,200 (GRCm39) S885R possibly damaging Het
Rab26 A T 17: 24,749,019 (GRCm39) probably benign Het
Rab5a G A 17: 53,807,490 (GRCm39) M175I probably benign Het
Rassf9 T A 10: 102,381,510 (GRCm39) D297E probably benign Het
Rimbp2 C T 5: 128,880,925 (GRCm39) R161Q probably damaging Het
Rtp1 A G 16: 23,250,034 (GRCm39) Y133C probably damaging Het
Sdr16c5 G A 4: 4,005,546 (GRCm39) L263F probably benign Het
Sec14l1 T G 11: 117,039,966 (GRCm39) probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spaca1 T C 4: 34,044,267 (GRCm39) probably null Het
Stk36 C T 1: 74,651,889 (GRCm39) P394L probably benign Het
Stk4 T C 2: 163,938,720 (GRCm39) I196T probably damaging Het
Sult1b1 A T 5: 87,665,235 (GRCm39) M233K probably damaging Het
Tmem8b C T 4: 43,674,005 (GRCm39) T212M probably damaging Het
Tmprss11g A T 5: 86,638,610 (GRCm39) F293I probably damaging Het
Tnfsf11 T G 14: 78,537,352 (GRCm39) T104P probably benign Het
Trmt2a G A 16: 18,067,567 (GRCm39) R80Q possibly damaging Het
Trps1 C A 15: 50,695,174 (GRCm39) E324* probably null Het
U2surp C T 9: 95,366,496 (GRCm39) V470I probably benign Het
Wdr18 G A 10: 79,803,336 (GRCm39) R400H probably benign Het
Zfp119b T A 17: 56,245,671 (GRCm39) H505L probably damaging Het
Zfp619 T A 7: 39,186,221 (GRCm39) C750* probably null Het
Zfr T C 15: 12,160,677 (GRCm39) I750T 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
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
Predicted Primers PCR Primer
(F):5'- TCTGCAAGGAGAATGATGTGTGCC -3'
(R):5'- ACACAATGCTGTCAGAAGCTCCTG -3'

Sequencing Primer
(F):5'- GTTCATACCCTGATTCAGTTGC -3'
(R):5'- AGAAGCTCCTGAGGCCC -3'
Posted On 2013-04-24