Incidental Mutation 'IGL02071:Prkar2b'
ID283344
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkar2b
Ensembl Gene ENSMUSG00000002997
Gene Nameprotein kinase, cAMP dependent regulatory, type II beta
SynonymsRII(beta), Pkarb2, PKARIIbeta
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.398) question?
Stock #IGL02071
Quality Score
Status
Chromosome12
Chromosomal Location31958476-32061296 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 31963017 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Arginine at position 367 (G367R)
Ref Sequence ENSEMBL: ENSMUSP00000039797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003079] [ENSMUST00000036497] [ENSMUST00000146865]
Predicted Effect probably damaging
Transcript: ENSMUST00000003079
AA Change: G367R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003079
Gene: ENSMUSG00000002997
AA Change: G367R

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 damaging
Transcript: ENSMUST00000036497
AA Change: G367R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039797
Gene: ENSMUSG00000002997
AA Change: G367R

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 damaging
Transcript: ENSMUST00000146865
AA Change: G207R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135290
Gene: ENSMUSG00000002997
AA Change: G207R

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat C T 16: 8,582,812 R92C probably damaging Het
Adam29 C A 8: 55,871,554 V622L possibly damaging Het
Bzw2 T C 12: 36,107,503 H321R probably benign Het
C2cd2 C T 16: 97,870,232 R489Q probably damaging Het
Ccdc129 C A 6: 55,967,725 S477* probably null Het
Cdh23 G A 10: 60,523,560 T253I possibly damaging Het
Col4a3 T G 1: 82,660,887 probably null Het
D630039A03Rik T C 4: 57,910,309 T168A possibly damaging Het
Dnajc19 A G 3: 34,078,765 L97P possibly damaging Het
Dpep2 A T 8: 105,985,144 H550Q probably benign Het
Dvl2 C A 11: 70,004,800 probably null Het
Fam234b A G 6: 135,227,151 probably null Het
Fxyd5 A G 7: 31,040,188 V32A possibly damaging Het
Mak16 A T 8: 31,160,529 S251T probably benign Het
Med10 T C 13: 69,815,628 V116A probably benign Het
Mycbp2 G A 14: 103,154,907 R50* probably null Het
Nckap5 G A 1: 125,981,568 P272L probably damaging Het
Nf1 T A 11: 79,444,121 V933E possibly damaging Het
Nrxn2 T A 19: 6,481,753 V749E probably damaging Het
Olfr1042 C A 2: 86,159,875 R165L probably benign Het
Olfr78 A C 7: 102,742,148 V285G probably damaging Het
Osbpl9 T C 4: 109,071,979 Y417C probably damaging Het
Otop1 G A 5: 38,287,983 A162T probably damaging Het
Patl1 C A 19: 11,939,690 P634T probably damaging Het
Ppl A T 16: 5,113,072 S28T probably benign Het
Rbl2 G A 8: 91,102,198 V576I probably damaging Het
Rgl3 C T 9: 21,988,263 A53T probably benign Het
Rp1 T A 1: 4,345,310 I1860F possibly damaging Het
Sbno2 A T 10: 80,060,641 D877E probably damaging Het
Sectm1b C T 11: 121,055,935 V45I probably damaging Het
Sfmbt2 G A 2: 10,577,952 V741I probably benign Het
Sugt1 T A 14: 79,610,283 L191* probably null Het
Tcf21 A T 10: 22,817,810 V156E possibly damaging Het
Tep1 T A 14: 50,834,049 R2046S possibly damaging Het
Tmem181a T C 17: 6,297,256 F241S probably damaging Het
Traf6 G A 2: 101,696,793 C296Y probably benign Het
Trim40 A G 17: 36,889,178 S3P probably benign Het
Ttll2 A T 17: 7,351,731 Y266N probably damaging Het
Vps54 A G 11: 21,275,071 N177S probably null Het
Other mutations in Prkar2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01549:Prkar2b APN 12 32061072 missense possibly damaging 0.55
IGL02056:Prkar2b APN 12 31975910 splice site probably benign
IGL02118:Prkar2b APN 12 31975964 missense probably damaging 1.00
spark UTSW 12 31987974 splice site probably null
R0211:Prkar2b UTSW 12 31972184 missense probably benign 0.30
R0362:Prkar2b UTSW 12 31987974 splice site probably null
R0485:Prkar2b UTSW 12 31976035 splice site probably benign
R0898:Prkar2b UTSW 12 31963002 missense possibly damaging 0.90
R1426:Prkar2b UTSW 12 31962988 splice site probably benign
R1997:Prkar2b UTSW 12 31963935 missense probably damaging 0.99
R2114:Prkar2b UTSW 12 31967280 missense probably damaging 1.00
R2346:Prkar2b UTSW 12 31972150 missense probably benign 0.01
R2513:Prkar2b UTSW 12 31975929 missense possibly damaging 0.93
R3875:Prkar2b UTSW 12 31965123 missense probably benign 0.01
R5301:Prkar2b UTSW 12 31975928 missense probably damaging 1.00
R5316:Prkar2b UTSW 12 32060985 missense probably damaging 0.97
R5351:Prkar2b UTSW 12 31972127 missense probably damaging 1.00
R6025:Prkar2b UTSW 12 32060856 missense possibly damaging 0.68
R6028:Prkar2b UTSW 12 31993758 missense possibly damaging 0.50
R6563:Prkar2b UTSW 12 31993786 splice site probably null
Posted On2015-04-16