Incidental Mutation 'IGL01549:Prkar2b'
ID 90560
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 # IGL01549
Quality Score
Status
Chromosome 12
Chromosomal Location 32008475-32111295 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32111071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 4 (E4G)
Ref Sequence ENSEMBL: ENSMUSP00000039797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003079] [ENSMUST00000036497] [ENSMUST00000146865]
AlphaFold P31324
Predicted Effect possibly damaging
Transcript: ENSMUST00000003079
AA Change: E4G

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000003079
Gene: ENSMUSG00000002997
AA Change: E4G

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 possibly damaging
Transcript: ENSMUST00000036497
AA Change: E4G

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000039797
Gene: ENSMUSG00000002997
AA Change: E4G

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik C T 18: 70,601,106 (GRCm39) V259I possibly damaging Het
Abhd4 C T 14: 54,504,589 (GRCm39) T273I probably damaging Het
Adamtsl3 T C 7: 82,261,656 (GRCm39) S1691P probably damaging Het
Anapc1 A G 2: 128,495,090 (GRCm39) S901P probably benign Het
Ank3 C T 10: 69,768,250 (GRCm39) S56F probably damaging Het
Ccdc74a A G 16: 17,468,406 (GRCm39) S343G probably benign Het
Clec7a A T 6: 129,449,640 (GRCm39) Y3* probably null Het
Il6 A G 5: 30,224,469 (GRCm39) T170A probably benign Het
Itgax C A 7: 127,730,378 (GRCm39) probably null Het
Lrrc17 A T 5: 21,775,288 (GRCm39) R283S probably benign Het
Muc1 C T 3: 89,139,117 (GRCm39) P533S probably damaging Het
Or10j5 T C 1: 172,784,541 (GRCm39) Y60H probably damaging Het
Or13n4 T C 7: 106,423,236 (GRCm39) I166V probably benign Het
Or4c121 C T 2: 89,024,133 (GRCm39) V82I probably benign Het
Or4d10c T A 19: 12,065,329 (GRCm39) I276F probably benign Het
Or8k37 A C 2: 86,469,705 (GRCm39) S116A probably benign Het
Or8k37 T C 2: 86,469,876 (GRCm39) M59V possibly damaging Het
Pcnt A C 10: 76,203,320 (GRCm39) probably null Het
Pde4b A T 4: 102,462,265 (GRCm39) D647V probably damaging Het
Phldb2 T C 16: 45,594,681 (GRCm39) M875V probably benign Het
Rab2a C A 4: 8,582,393 (GRCm39) S125Y probably benign Het
Samm50 A G 15: 84,086,982 (GRCm39) I264V probably benign Het
Sgsh C T 11: 119,241,755 (GRCm39) A90T probably damaging Het
Tap2 A G 17: 34,433,303 (GRCm39) T489A probably benign Het
Wdr38 T G 2: 38,890,730 (GRCm39) S201R probably damaging Het
Zfhx4 A G 3: 5,464,522 (GRCm39) D1560G probably damaging Het
Zfp462 A G 4: 55,013,181 (GRCm39) T568A probably damaging Het
Other mutations in Prkar2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02056:Prkar2b APN 12 32,025,909 (GRCm39) splice site probably benign
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 2013-12-09