Incidental Mutation 'R5845:Prkab1'
ID 453560
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 044063-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # R5845 (G1)
Quality Score 139
Status Validated
Chromosome 5
Chromosomal Location 116151654-116162449 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 116162219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 30 (D30E)
Ref Sequence ENSEMBL: ENSMUSP00000138221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031486] [ENSMUST00000111999] [ENSMUST00000133098] [ENSMUST00000148208]
AlphaFold Q9R078
Predicted Effect probably benign
Transcript: ENSMUST00000031486
AA Change: D30E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031486
Gene: ENSMUSG00000029513
AA Change: D30E

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: D30E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107630
Gene: ENSMUSG00000029513
AA Change: D30E

DomainStartEndE-ValueType
AMPKBI 180 270 4.04e-47 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133098
AA Change: D30E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000138749
Gene: ENSMUSG00000029513
AA Change: D30E

DomainStartEndE-ValueType
PDB:4CFF|D 1 139 4e-97 PDB
Blast:AMPKBI 90 139 2e-29 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141018
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144932
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147343
Predicted Effect probably benign
Transcript: ENSMUST00000148208
AA Change: D30E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000138221
Gene: ENSMUSG00000029513
AA Change: D30E

DomainStartEndE-ValueType
PDB:4CFF|D 1 139 4e-97 PDB
Blast:AMPKBI 90 139 2e-29 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156331
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.1%
  • 20x: 90.3%
Validation Efficiency 97% (59/61)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 A T 5: 121,764,146 (GRCm39) Y928N probably benign Het
Amz2 T C 11: 109,324,755 (GRCm39) F213S probably damaging Het
Cage1 T A 13: 38,199,682 (GRCm39) S732C probably damaging Het
Ccnf C A 17: 24,459,767 (GRCm39) D229Y possibly damaging Het
Cdon G T 9: 35,368,762 (GRCm39) C332F probably damaging Het
Clca3b G A 3: 144,531,077 (GRCm39) R758C possibly damaging Het
Cyp2ab1 C T 16: 20,131,082 (GRCm39) R349H probably benign Het
Dock10 C T 1: 80,483,459 (GRCm39) probably benign Het
Dock5 A T 14: 68,078,550 (GRCm39) Y225N possibly damaging Het
Ear2 G A 14: 44,340,618 (GRCm39) R92K probably benign Het
Eif3c T C 7: 126,163,927 (GRCm39) S39G probably damaging Het
Eml3 A G 19: 8,916,582 (GRCm39) D701G probably damaging Het
Fat3 G A 9: 16,288,506 (GRCm39) T339I probably damaging Het
Fbn2 T C 18: 58,186,840 (GRCm39) D1687G possibly damaging Het
Fcnb C T 2: 27,969,633 (GRCm39) probably null Het
Flacc1 T A 1: 58,706,937 (GRCm39) E243D possibly damaging Het
Fscb A G 12: 64,519,558 (GRCm39) V636A unknown Het
Gm6124 A G 7: 38,869,299 (GRCm39) noncoding transcript Het
Hectd4 T A 5: 121,445,587 (GRCm39) probably null Het
Hrnr A T 3: 93,239,944 (GRCm39) H3394L unknown Het
Hs1bp3 A G 12: 8,386,275 (GRCm39) R226G probably benign Het
Ifngr2 T C 16: 91,351,947 (GRCm39) V61A probably benign Het
Irag2 G A 6: 145,117,392 (GRCm39) M376I probably benign Het
Kcnk2 T C 1: 189,009,918 (GRCm39) probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Mgam T A 6: 40,652,257 (GRCm39) N810K possibly damaging Het
Mis18a A G 16: 90,518,522 (GRCm39) probably null Het
Nsmce3 A G 7: 64,521,936 (GRCm39) V244A possibly damaging Het
Or10ag59 T C 2: 87,406,367 (GRCm39) I313T probably benign Het
Plxna4 A T 6: 32,214,711 (GRCm39) V590D probably damaging Het
Rasgrp3 A T 17: 75,810,142 (GRCm39) N281Y possibly damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Septin2 T A 1: 93,426,757 (GRCm39) probably null Het
Slc26a6 T G 9: 108,739,282 (GRCm39) V609G possibly damaging Het
Spta1 T A 1: 174,068,662 (GRCm39) M2154K probably damaging Het
Stoml2 T G 4: 43,030,008 (GRCm39) probably benign Het
Sult6b1 A C 17: 79,202,059 (GRCm39) S148A probably damaging Het
Tmem131l A G 3: 83,847,860 (GRCm39) V335A probably damaging Het
Tmem221 T A 8: 72,007,788 (GRCm39) probably null Het
Tmem88 C G 11: 69,288,504 (GRCm39) Q138H probably benign Het
Trpm8 T C 1: 88,255,902 (GRCm39) Y186H probably benign Het
Trpv1 T C 11: 73,131,407 (GRCm39) I7T probably damaging Het
Ttc34 T C 4: 154,949,929 (GRCm39) S961P probably benign Het
Ubr1 T C 2: 120,734,486 (GRCm39) D1138G probably benign Het
Ubr7 C T 12: 102,732,571 (GRCm39) R188C probably damaging Het
Uspl1 C T 5: 149,130,770 (GRCm39) P118S probably benign Het
Vdr C A 15: 97,767,647 (GRCm39) E114D possibly damaging Het
Zfp853 C T 5: 143,274,424 (GRCm39) V399M unknown Het
Zswim4 T A 8: 84,943,871 (GRCm39) probably null 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
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
R9701:Prkab1 UTSW 5 116,162,274 (GRCm39) missense probably benign
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'- GTAATTAGGCACAAGTCCCAGAACG -3'
(R):5'- TCTGTTCGGAGTTCCAGTCG -3'

Sequencing Primer
(F):5'- GCTATGACAGAGCCACCTC -3'
(R):5'- TCGCCCGAGCCAGGTAAAG -3'
Posted On 2017-02-10