Incidental Mutation 'R6028:Prkar2b'
ID 480198
Institutional Source Beutler Lab
Gene Symbol Prkar2b
Ensembl Gene ENSMUSG00000002997
Gene Name protein kinase, cAMP dependent regulatory, type II beta
Synonyms RII(beta), Pkarb2, PKARIIbeta
MMRRC Submission 044200-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.329) question?
Stock # R6028 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 32008475-32111295 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 32043757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 121 (D121E)
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: D121E

PolyPhen 2 Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000003079
Gene: ENSMUSG00000002997
AA Change: D121E

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: D121E

PolyPhen 2 Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000039797
Gene: ENSMUSG00000002997
AA Change: D121E

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
Meta Mutation Damage Score 0.0699 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 100% (72/72)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik T A 3: 36,533,718 (GRCm39) probably null Het
Acat1 A T 9: 53,503,366 (GRCm39) Y158N probably damaging Het
Adamtsl1 C A 4: 86,260,561 (GRCm39) A924E probably damaging Het
Adck1 A T 12: 88,368,902 (GRCm39) M127L probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Alad G T 4: 62,428,359 (GRCm39) T305K probably benign Het
Ankrd33 T C 15: 101,016,953 (GRCm39) F65S probably damaging Het
Ap3d1 T C 10: 80,558,761 (GRCm39) N281S possibly damaging Het
Arhgap30 A G 1: 171,235,888 (GRCm39) D754G probably benign Het
Asah2 T C 19: 31,993,914 (GRCm39) D438G probably damaging Het
Cachd1 C A 4: 100,840,753 (GRCm39) N905K probably damaging Het
Cdh23 G T 10: 60,370,314 (GRCm39) D160E probably damaging Het
Cntln T A 4: 84,889,410 (GRCm39) S298T probably benign Het
Cplx3 A G 9: 57,515,546 (GRCm39) I443T probably damaging Het
Dnah5 T A 15: 28,387,979 (GRCm39) M3146K probably damaging Het
Doc2b C A 11: 75,663,412 (GRCm39) A347S probably benign Het
Efcab3 T C 11: 104,660,481 (GRCm39) probably null Het
Eif1ad16 A T 12: 87,985,131 (GRCm39) D137E possibly damaging Het
Eps8l2 T C 7: 140,937,746 (GRCm39) F422S possibly damaging Het
Esm1 A G 13: 113,353,201 (GRCm39) N161S possibly damaging Het
Fbxw10 C T 11: 62,764,345 (GRCm39) Q671* probably null Het
Fnbp4 C A 2: 90,581,478 (GRCm39) T177K probably benign Het
Gpr137c C A 14: 45,514,938 (GRCm39) Q266K probably damaging Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Hk1 C A 10: 62,188,837 (GRCm39) K25N probably null Het
Klhl29 G T 12: 5,140,995 (GRCm39) Y616* probably null Het
Lmnb1 T G 18: 56,876,348 (GRCm39) Y485* probably null Het
Lrrc63 A G 14: 75,323,614 (GRCm39) S537P possibly damaging Het
Ltbp2 T A 12: 84,831,626 (GRCm39) N1686I probably damaging Het
Map9 T A 3: 82,287,555 (GRCm39) probably null Het
Marco T A 1: 120,418,671 (GRCm39) Q194L probably damaging Het
Mc3r A T 2: 172,091,129 (GRCm39) D117V probably damaging Het
Meltf T A 16: 31,706,294 (GRCm39) D259E possibly damaging Het
Mical1 A T 10: 41,362,873 (GRCm39) M973L probably benign Het
Mmp21 T C 7: 133,280,443 (GRCm39) T176A probably benign Het
Mterf1b T A 5: 4,247,666 (GRCm39) probably null Het
Muc16 G A 9: 18,568,472 (GRCm39) S1349F unknown Het
Nacc2 A G 2: 25,951,590 (GRCm39) V415A probably damaging Het
Ncl A G 1: 86,283,855 (GRCm39) V322A probably benign Het
Neb G A 2: 52,083,243 (GRCm39) T1639I probably damaging Het
Nfia A G 4: 97,999,488 (GRCm39) H485R possibly damaging Het
Nlrp9a C T 7: 26,257,762 (GRCm39) T460I probably benign Het
Or8g24 T A 9: 38,989,379 (GRCm39) I221F probably damaging Het
Or8k32 T A 2: 86,369,113 (GRCm39) I49F possibly damaging Het
Patl2 T A 2: 121,956,618 (GRCm39) Q158L possibly damaging Het
Pja2 T C 17: 64,616,085 (GRCm39) D270G probably benign Het
Pkd1l1 T C 11: 8,786,267 (GRCm39) H1929R probably benign Het
Plekhh3 A T 11: 101,057,396 (GRCm39) M287K probably damaging Het
Polb G T 8: 23,130,011 (GRCm39) S187* probably null Het
Popdc3 A G 10: 45,194,015 (GRCm39) D272G probably benign Het
Psmd3 T A 11: 98,576,491 (GRCm39) L131Q probably damaging Het
Ptcd3 A T 6: 71,875,392 (GRCm39) C197S probably damaging Het
Ptprf A T 4: 118,070,826 (GRCm39) V1391D probably benign Het
Purb A G 11: 6,425,150 (GRCm39) F246S probably damaging Het
Rgs8 C A 1: 153,566,734 (GRCm39) T95N probably damaging Het
Slc2a13 T C 15: 91,160,319 (GRCm39) N545S probably damaging Het
Smpd2 A G 10: 41,365,344 (GRCm39) W51R probably damaging Het
Srgap1 T C 10: 121,664,635 (GRCm39) Q490R probably null Het
Strbp G A 2: 37,515,267 (GRCm39) T253I probably damaging Het
Sult1d1 A T 5: 87,707,685 (GRCm39) M145K probably damaging Het
Taf5l A C 8: 124,729,714 (GRCm39) probably null Het
Tas2r131 T G 6: 132,934,639 (GRCm39) I57L probably benign Het
Tcf25 A G 8: 124,108,176 (GRCm39) N77S possibly damaging Het
Tmem253 A G 14: 52,255,268 (GRCm39) T57A possibly damaging Het
Tspan17 A G 13: 54,941,111 (GRCm39) N130S probably damaging Het
Utrn T C 10: 12,530,460 (GRCm39) S2118G probably benign Het
Vmn2r3 T A 3: 64,182,698 (GRCm39) T334S probably benign Het
Wnk2 G T 13: 49,229,821 (GRCm39) A901E probably damaging Het
Zc3hav1 T C 6: 38,284,275 (GRCm39) T947A probably benign Het
Zfhx3 C T 8: 109,520,135 (GRCm39) P419L probably damaging Het
Zfp292 A G 4: 34,819,549 (GRCm39) S258P probably damaging Het
Zfp964 A G 8: 70,116,563 (GRCm39) T388A unknown Het
Other mutations in Prkar2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01549:Prkar2b APN 12 32,111,071 (GRCm39) missense possibly damaging 0.55
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
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
Predicted Primers PCR Primer
(F):5'- ATCCAAAAGCGACTCTGGG -3'
(R):5'- TCTGGTACCATGGAAGCTAGTTC -3'

Sequencing Primer
(F):5'- CGACTCTGGGGTTTTAAAAAGAAGTC -3'
(R):5'- ACCATGGAAGCTAGTTCTCGGG -3'
Posted On 2017-06-26