Incidental Mutation 'R9701:Prkab1'
ID 729560
Institutional Source Beutler Lab
Gene Symbol Prkab1
Ensembl Gene ENSMUSG00000029513
Gene Name protein kinase, AMP-activated, beta 1 non-catalytic subunit
Synonyms 1300015D22Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.233) question?
Stock # R9701 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 116151654-116162449 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116162274 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 12 (E12G)
Ref Sequence ENSEMBL: ENSMUSP00000031486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031486] [ENSMUST00000111999] [ENSMUST00000133098] [ENSMUST00000148208]
AlphaFold Q9R078
Predicted Effect probably benign
Transcript: ENSMUST00000031486
AA Change: E12G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031486
Gene: ENSMUSG00000029513
AA Change: E12G

DomainStartEndE-ValueType
Pfam:AMPK1_CBM 78 161 3e-37 PFAM
AMPKBI 180 270 4.04e-47 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111999
AA Change: E12G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107630
Gene: ENSMUSG00000029513
AA Change: E12G

DomainStartEndE-ValueType
AMPKBI 180 270 4.04e-47 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133098
AA Change: E12G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000138749
Gene: ENSMUSG00000029513
AA Change: E12G

DomainStartEndE-ValueType
PDB:4CFF|D 1 139 4e-97 PDB
Blast:AMPKBI 90 139 2e-29 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000148208
AA Change: E12G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000138221
Gene: ENSMUSG00000029513
AA Change: E12G

DomainStartEndE-ValueType
PDB:4CFF|D 1 139 4e-97 PDB
Blast:AMPKBI 90 139 2e-29 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 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. The myristoylation and phosphorylation of this subunit have been shown to affect the enzyme activity and cellular localization of AMPK. This subunit may also serve as an adaptor molecule mediating the association of the AMPK complex. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a gene trap allele exhibit altered brain development, seizures, and postnatal death. Homozygotes for a null allele are protected from diet-induced obesity and hepatic insulin resistance. Homozygotes for another null allele show microcytic anemia and extramedullary hematopoiesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 45,786,054 (GRCm39) D673G probably benign Het
Alg8 T A 7: 97,027,486 (GRCm39) V118E possibly damaging Het
Ap4e1 T C 2: 126,875,563 (GRCm39) V218A probably benign Het
Armc12 A T 17: 28,751,375 (GRCm39) D123V probably damaging Het
Bltp3b G A 10: 89,615,755 (GRCm39) V133I probably benign Het
Bms1 T A 6: 118,368,147 (GRCm39) K1039I probably damaging Het
Col4a2 A G 8: 11,493,104 (GRCm39) N1299S probably benign Het
Cux1 T C 5: 136,343,169 (GRCm39) D405G probably damaging Het
Cwf19l2 A T 9: 3,430,454 (GRCm39) Q262L probably damaging Het
Dclk3 A G 9: 111,298,244 (GRCm39) D596G probably damaging Het
Dnah7a A T 1: 53,561,388 (GRCm39) C2090S probably benign Het
Dock7 T C 4: 98,846,384 (GRCm39) D1749G unknown Het
Dock9 A T 14: 121,876,983 (GRCm39) C463S probably benign Het
Dyrk1b G A 7: 27,885,838 (GRCm39) R548Q probably damaging Het
Egr1 T C 18: 34,995,674 (GRCm39) F152S probably damaging Het
Eln C A 5: 134,744,559 (GRCm39) A479S unknown Het
Gm973 T A 1: 59,566,032 (GRCm39) W84R possibly damaging Het
Gnpat A G 8: 125,613,678 (GRCm39) K642E probably benign Het
Gpr180 G A 14: 118,391,302 (GRCm39) G235R probably damaging Het
Gpx6 A T 13: 21,501,777 (GRCm39) Q133L probably benign Het
Gzmn T C 14: 56,405,310 (GRCm39) Y58C probably benign Het
Hcfc2 G T 10: 82,574,269 (GRCm39) G148* probably null Het
Hspa5 C T 2: 34,664,649 (GRCm39) R368* probably null Het
Igkv3-10 T C 6: 70,550,001 (GRCm39) V49A probably damaging Het
Inpp5f A C 7: 128,278,515 (GRCm39) D435A possibly damaging Het
Jmjd1c A T 10: 67,060,745 (GRCm39) I852F possibly damaging Het
Lhx5 T A 5: 120,572,663 (GRCm39) V94E possibly damaging Het
Map1s C T 8: 71,369,712 (GRCm39) T928I possibly damaging Het
Mib1 T A 18: 10,798,494 (GRCm39) L785H probably damaging Het
Mrgpra6 C T 7: 46,835,533 (GRCm39) R296K probably benign Het
Mrpl9 A G 3: 94,351,892 (GRCm39) probably null Het
Mutyh A G 4: 116,676,485 (GRCm39) S486G probably benign Het
Naa15 T A 3: 51,349,370 (GRCm39) Y96* probably null Het
Nlrp1a T C 11: 70,987,946 (GRCm39) S1175G probably benign Het
Nup153 A T 13: 46,840,211 (GRCm39) D1132E probably benign Het
Nxf1 G A 19: 8,739,772 (GRCm39) G42D probably damaging Het
Or13j1 C A 4: 43,705,793 (GRCm39) M258I probably benign Het
Plekhg6 C T 6: 125,347,602 (GRCm39) V451I probably benign Het
Ptprd A G 4: 75,916,896 (GRCm39) Y752H probably damaging Het
Rbm12 A G 2: 155,938,166 (GRCm39) I702T probably benign Het
Rnf212 A G 5: 108,922,738 (GRCm39) probably null Het
Sall3 C A 18: 81,017,443 (GRCm39) A162S probably benign Het
Sec24d T C 3: 123,063,321 (GRCm39) S13P probably damaging Het
Serpina16 T C 12: 103,638,873 (GRCm39) Q238R probably benign Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Skint3 T A 4: 112,111,094 (GRCm39) V73E probably damaging Het
Slc6a20a T A 9: 123,489,585 (GRCm39) T153S probably damaging Het
Slc6a6 T C 6: 91,700,478 (GRCm39) Y69H probably damaging Het
Sorl1 A G 9: 42,003,766 (GRCm39) Y177H probably damaging Het
Srbd1 T C 17: 86,433,559 (GRCm39) Y346C probably damaging Het
Syne2 A G 12: 76,037,197 (GRCm39) E3792G probably damaging Het
Tg C G 15: 66,637,991 (GRCm39) T2268S probably benign Het
Thbs1 A G 2: 117,950,716 (GRCm39) N721S probably benign Het
Treh A G 9: 44,594,648 (GRCm39) Y275C probably damaging Het
Trpv5 G T 6: 41,651,594 (GRCm39) H195N possibly damaging Het
Tshz1 A G 18: 84,032,579 (GRCm39) S610P possibly damaging Het
Ttll4 A G 1: 74,720,482 (GRCm39) N499S probably benign Het
Ttn G T 2: 76,748,927 (GRCm39) H4041N probably benign Het
Ubtf A G 11: 102,199,718 (GRCm39) probably null Het
Urod C T 4: 116,849,778 (GRCm39) V207M probably damaging Het
Vegfa G A 17: 46,342,713 (GRCm39) P35L probably damaging Het
Zc3h7b C T 15: 81,676,505 (GRCm39) P749L probably damaging Het
Other mutations in Prkab1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01292:Prkab1 APN 5 116,162,169 (GRCm39) missense probably damaging 1.00
IGL01730:Prkab1 APN 5 116,159,551 (GRCm39) missense probably damaging 1.00
R0145:Prkab1 UTSW 5 116,156,144 (GRCm39) splice site probably benign
R0233:Prkab1 UTSW 5 116,159,711 (GRCm39) splice site probably benign
R2295:Prkab1 UTSW 5 116,159,715 (GRCm39) splice site probably null
R5845:Prkab1 UTSW 5 116,162,219 (GRCm39) missense probably benign 0.00
R6726:Prkab1 UTSW 5 116,158,092 (GRCm39) missense probably benign 0.04
R7432:Prkab1 UTSW 5 116,162,221 (GRCm39) missense possibly damaging 0.60
R8857:Prkab1 UTSW 5 116,158,147 (GRCm39) missense probably damaging 1.00
R9802:Prkab1 UTSW 5 116,162,274 (GRCm39) missense probably benign
RF018:Prkab1 UTSW 5 116,159,689 (GRCm39) missense probably damaging 0.96
X0062:Prkab1 UTSW 5 116,159,571 (GRCm39) missense possibly damaging 0.66
Predicted Primers PCR Primer
(F):5'- CCATCGGTAATTAGGCACAAGTC -3'
(R):5'- TCTGTTCGGAGTTCCAGTCG -3'

Sequencing Primer
(F):5'- TTAGGCACAAGTCCCAGAACGG -3'
(R):5'- AGTTCCAGTCGCGGTCG -3'
Posted On 2022-10-06