Incidental Mutation 'IGL02056:Prkar2b'
ID 185246
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkar2b
Ensembl Gene ENSMUSG00000002997
Gene Name protein kinase, cAMP dependent regulatory, type II beta
Synonyms RII(beta), Pkarb2, PKARIIbeta
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.329) question?
Stock # IGL02056
Quality Score
Status
Chromosome 12
Chromosomal Location 32008475-32111295 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 32025909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003079] [ENSMUST00000036497] [ENSMUST00000146865]
AlphaFold P31324
Predicted Effect probably benign
Transcript: ENSMUST00000003079
SMART Domains Protein: ENSMUSP00000003079
Gene: ENSMUSG00000002997

DomainStartEndE-ValueType
RIIa 7 44 7.78e-17 SMART
low complexity region 61 68 N/A INTRINSIC
low complexity region 86 101 N/A INTRINSIC
cNMP 152 272 7.2e-26 SMART
cNMP 274 398 8.53e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000036497
SMART Domains Protein: ENSMUSP00000039797
Gene: ENSMUSG00000002997

DomainStartEndE-ValueType
RIIa 7 44 7.78e-17 SMART
low complexity region 61 68 N/A INTRINSIC
low complexity region 86 101 N/A INTRINSIC
cNMP 152 272 7.2e-26 SMART
cNMP 274 398 8.53e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000146865
SMART Domains Protein: ENSMUSP00000135290
Gene: ENSMUSG00000002997

DomainStartEndE-ValueType
cNMP 1 112 1.33e-15 SMART
cNMP 114 238 8.53e-28 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. This subunit has been shown to interact with and suppress the transcriptional activity of the cAMP responsive element binding protein 1 (CREB1) in activated T cells. Knockout studies in mice suggest that this subunit may play an important role in regulating energy balance and adiposity. The studies also suggest that this subunit may mediate the gene induction and cataleptic behavior induced by haloperidol. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygou null mice are lean, weigh less than controls, and have reduced white fat pad size. Mice are resistant to both diet-induced obesity and to diet-induced insulin resistance. Mice show impaired coordination and increased sensitivity to chronic amphetamine exposure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg101 T C 15: 101,188,218 (GRCm39) S108P probably damaging Het
BB014433 A T 8: 15,092,435 (GRCm39) C139* probably null Het
Cacna1s A G 1: 136,046,738 (GRCm39) N1808S probably benign Het
Ccdc148 A G 2: 58,894,081 (GRCm39) probably benign Het
Dnah7a T G 1: 53,543,501 (GRCm39) N2223T probably benign Het
Fgl2 T A 5: 21,580,543 (GRCm39) I295K probably damaging Het
Foxj3 T C 4: 119,442,954 (GRCm39) I126T probably damaging Het
Gm4540 T A 3: 105,942,056 (GRCm39) probably benign Het
Hps5 T G 7: 46,437,606 (GRCm39) K156N probably damaging Het
Hsp90aa1 T C 12: 110,660,449 (GRCm39) probably benign Het
Il12rb1 C T 8: 71,263,831 (GRCm39) R131* probably null Het
Itgb2l T C 16: 96,228,889 (GRCm39) E438G probably damaging Het
Kplce T A 3: 92,776,200 (GRCm39) Q161L probably benign Het
Nbeal2 A T 9: 110,456,392 (GRCm39) L2379Q probably benign Het
Neurl4 T C 11: 69,796,616 (GRCm39) V481A probably damaging Het
Nos1ap A G 1: 170,146,192 (GRCm39) F454S possibly damaging Het
Pik3r5 G T 11: 68,381,681 (GRCm39) G242C possibly damaging Het
Pkd1l3 A G 8: 110,358,010 (GRCm39) N834S probably benign Het
Pusl1 T C 4: 155,975,029 (GRCm39) T191A probably benign Het
Rasal2 A G 1: 157,126,831 (GRCm39) V51A probably damaging Het
Rsc1a1 T A 4: 141,412,796 (GRCm39) I39F probably benign Het
Slc2a3 G A 6: 122,712,437 (GRCm39) P269L probably damaging Het
Sntb1 C T 15: 55,511,435 (GRCm39) G383D possibly damaging Het
Washc5 T C 15: 59,222,185 (GRCm39) T547A possibly damaging Het
Zfr T C 15: 12,154,533 (GRCm39) V572A probably damaging Het
Zmym6 T A 4: 126,997,207 (GRCm39) N275K probably damaging Het
Other mutations in Prkar2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01549:Prkar2b APN 12 32,111,071 (GRCm39) missense possibly damaging 0.55
IGL02071:Prkar2b APN 12 32,013,016 (GRCm39) missense probably damaging 1.00
IGL02118:Prkar2b APN 12 32,025,963 (GRCm39) missense probably damaging 1.00
spark UTSW 12 32,037,973 (GRCm39) splice site probably null
R0211:Prkar2b UTSW 12 32,022,183 (GRCm39) missense probably benign 0.30
R0362:Prkar2b UTSW 12 32,037,973 (GRCm39) splice site probably null
R0485:Prkar2b UTSW 12 32,026,034 (GRCm39) splice site probably benign
R0898:Prkar2b UTSW 12 32,013,001 (GRCm39) missense possibly damaging 0.90
R1426:Prkar2b UTSW 12 32,012,987 (GRCm39) splice site probably benign
R1997:Prkar2b UTSW 12 32,013,934 (GRCm39) missense probably damaging 0.99
R2114:Prkar2b UTSW 12 32,017,279 (GRCm39) missense probably damaging 1.00
R2346:Prkar2b UTSW 12 32,022,149 (GRCm39) missense probably benign 0.01
R2513:Prkar2b UTSW 12 32,025,928 (GRCm39) missense possibly damaging 0.93
R3875:Prkar2b UTSW 12 32,015,122 (GRCm39) missense probably benign 0.01
R5301:Prkar2b UTSW 12 32,025,927 (GRCm39) missense probably damaging 1.00
R5316:Prkar2b UTSW 12 32,110,984 (GRCm39) missense probably damaging 0.97
R5351:Prkar2b UTSW 12 32,022,126 (GRCm39) missense probably damaging 1.00
R6025:Prkar2b UTSW 12 32,110,855 (GRCm39) missense possibly damaging 0.68
R6028:Prkar2b UTSW 12 32,043,757 (GRCm39) missense possibly damaging 0.50
R6563:Prkar2b UTSW 12 32,043,785 (GRCm39) splice site probably null
R7074:Prkar2b UTSW 12 32,022,147 (GRCm39) missense probably damaging 1.00
R7431:Prkar2b UTSW 12 32,013,150 (GRCm39) splice site probably null
R7747:Prkar2b UTSW 12 32,110,937 (GRCm39) missense probably benign 0.23
R7978:Prkar2b UTSW 12 32,013,024 (GRCm39) missense possibly damaging 0.81
R8926:Prkar2b UTSW 12 32,111,080 (GRCm39) start codon destroyed probably null 0.99
R9102:Prkar2b UTSW 12 32,013,025 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07