Incidental Mutation 'R4886:Prkar2a'
ID 375737
Institutional Source Beutler Lab
Gene Symbol Prkar2a
Ensembl Gene ENSMUSG00000032601
Gene Name protein kinase, cAMP dependent regulatory, type II alpha
Synonyms 1110061A24Rik, RII(alpha)
MMRRC Submission 042492-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4886 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 108569342-108627643 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 108622823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035220] [ENSMUST00000195405]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000035220
SMART Domains Protein: ENSMUSP00000035220
Gene: ENSMUSG00000032601

RIIa 8 45 7.15e-16 SMART
low complexity region 70 85 N/A INTRINSIC
low complexity region 104 114 N/A INTRINSIC
cNMP 137 257 2.27e-23 SMART
cNMP 259 384 2.02e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000192068
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193215
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195263
Predicted Effect probably null
Transcript: ENSMUST00000195405
SMART Domains Protein: ENSMUSP00000141869
Gene: ENSMUSG00000032601

RIIa 8 45 4.3e-18 SMART
low complexity region 70 85 N/A INTRINSIC
low complexity region 104 114 N/A INTRINSIC
cNMP 137 257 1.1e-25 SMART
cNMP 259 362 3.9e-12 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.5%
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. It may interact with various A-kinase anchoring proteins and determine the subcellular localization of cAMP-dependent protein kinase. This subunit has been shown to regulate protein transport from endosomes to the Golgi apparatus and further to the endoplasmic reticulum (ER). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and appear healthy. They have normal growth and no deficits in locomotor activity, muscle strength, or exploratory behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik A T 2: 32,464,630 (GRCm39) probably benign Het
Aagab G C 9: 63,543,738 (GRCm39) A231P possibly damaging Het
Adgra3 C T 5: 50,156,537 (GRCm39) D398N probably benign Het
Ap3b1 A T 13: 94,609,313 (GRCm39) D616V possibly damaging Het
Apc2 T A 10: 80,150,047 (GRCm39) H1700Q probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp2b4 T A 1: 133,634,518 (GRCm39) I1177L probably benign Het
Card6 T C 15: 5,134,623 (GRCm39) probably null Het
Cdk13 A G 13: 17,894,319 (GRCm39) S1103P probably benign Het
Cdk6 G T 5: 3,394,444 (GRCm39) K26N possibly damaging Het
Cfap221 T C 1: 119,861,934 (GRCm39) T614A probably damaging Het
Cfap221 T A 1: 119,912,488 (GRCm39) Y133F probably damaging Het
Clcc1 A G 3: 108,584,154 (GRCm39) T513A probably benign Het
Clec4g T A 8: 3,766,419 (GRCm39) probably benign Het
Cntln A C 4: 84,889,466 (GRCm39) E316D probably benign Het
Col6a4 A G 9: 105,937,271 (GRCm39) I1415T probably benign Het
Cpne2 T A 8: 95,290,592 (GRCm39) D392E probably benign Het
Cpz T C 5: 35,664,048 (GRCm39) N496D probably damaging Het
Cyp3a59 A G 5: 146,024,197 (GRCm39) D61G probably damaging Het
Cyp4a29 T C 4: 115,110,078 (GRCm39) V440A probably benign Het
Dbn1 A T 13: 55,625,355 (GRCm39) probably benign Het
Ddx46 A G 13: 55,786,012 (GRCm39) D64G unknown Het
Dhrs7c G A 11: 67,700,620 (GRCm39) V56M probably damaging Het
Dnhd1 T A 7: 105,364,015 (GRCm39) H4122Q probably benign Het
Ecm2 A T 13: 49,676,263 (GRCm39) I327F possibly damaging Het
Elavl3 T C 9: 21,937,614 (GRCm39) K189E possibly damaging Het
Enam A T 5: 88,636,593 (GRCm39) R82* probably null Het
Fat3 T A 9: 15,932,626 (GRCm39) I1436F probably benign Het
Glt8d2 T C 10: 82,487,874 (GRCm39) probably benign Het
Grin2c T C 11: 115,151,616 (GRCm39) T115A probably damaging Het
H6pd C T 4: 150,067,235 (GRCm39) V384M possibly damaging Het
Hba-x A G 11: 32,227,008 (GRCm39) E39G probably benign Het
Hcar2 G A 5: 124,003,260 (GRCm39) T81M probably benign Het
Herpud2 G A 9: 25,036,285 (GRCm39) P125L probably benign Het
Hnrnpul2 C T 19: 8,807,191 (GRCm39) P618S probably benign Het
Hpse2 T C 19: 43,373,203 (GRCm39) Y142C probably damaging Het
Iqcm A T 8: 76,615,228 (GRCm39) R436S possibly damaging Het
Itih1 A G 14: 30,658,658 (GRCm39) probably null Het
Kcnk10 T C 12: 98,401,418 (GRCm39) N405S possibly damaging Het
Klhl14 A T 18: 21,691,029 (GRCm39) probably null Het
L3mbtl3 T A 10: 26,168,668 (GRCm39) E587V unknown Het
Leap2 A T 11: 53,313,653 (GRCm39) F40I probably damaging Het
Leng8 T A 7: 4,147,930 (GRCm39) probably null Het
Lrrc66 A G 5: 73,765,910 (GRCm39) F378L probably benign Het
Mansc1 T C 6: 134,587,625 (GRCm39) H184R probably benign Het
Map10 T A 8: 126,397,431 (GRCm39) Y275N probably damaging Het
Med23 T C 10: 24,750,581 (GRCm39) probably null Het
Mpp3 A G 11: 101,915,962 (GRCm39) Y55H probably benign Het
Mrpl17 T C 7: 105,459,260 (GRCm39) N112S probably benign Het
Nectin4 T C 1: 171,212,383 (GRCm39) V327A possibly damaging Het
Nlrp14 A T 7: 106,781,862 (GRCm39) H353L probably benign Het
Notch2 A T 3: 98,009,735 (GRCm39) Y554F probably damaging Het
Nphp3 T C 9: 103,880,193 (GRCm39) S72P probably damaging Het
Nrsn2 T C 2: 152,211,531 (GRCm39) K167E probably benign Het
Or14j8 A T 17: 38,262,962 (GRCm39) S318T probably benign Het
Or5b117 T C 19: 13,431,885 (GRCm39) probably null Het
Or8g30 T C 9: 39,230,881 (GRCm39) T10A probably benign Het
Or9i2 T A 19: 13,815,643 (GRCm39) E298V probably damaging Het
Osbpl9 T C 4: 108,925,564 (GRCm39) N485S probably benign Het
Pbk T A 14: 66,052,650 (GRCm39) H164Q probably damaging Het
Pfn2 G T 3: 57,754,874 (GRCm39) N10K probably damaging Het
Pi4ka A G 16: 17,176,225 (GRCm39) S405P Het
Pik3ca A G 3: 32,491,312 (GRCm39) D133G probably damaging Het
Pramel27 G T 4: 143,579,873 (GRCm39) R486L probably benign Het
Prl6a1 A T 13: 27,502,983 (GRCm39) D193V probably damaging Het
Psg25 A T 7: 18,258,838 (GRCm39) D279E probably benign Het
Rad21 G T 15: 51,831,896 (GRCm39) P395Q probably damaging Het
Rnf168 C A 16: 32,118,014 (GRCm39) T525K probably benign Het
Rpn2 T C 2: 157,159,964 (GRCm39) probably null Het
Rreb1 G A 13: 38,115,034 (GRCm39) V798M possibly damaging Het
Scgb3a2 C T 18: 43,899,819 (GRCm39) P36S probably damaging Het
Scn3a T C 2: 65,291,376 (GRCm39) D1790G probably damaging Het
Sec24b A T 3: 129,777,619 (GRCm39) H1226Q probably benign Het
Sec63 T A 10: 42,665,389 (GRCm39) Y106* probably null Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc12a3 G A 8: 95,078,438 (GRCm39) probably null Het
Slc6a1 T A 6: 114,279,494 (GRCm39) I91N possibly damaging Het
Slitrk6 T C 14: 110,989,315 (GRCm39) T131A probably damaging Het
Spata1 C G 3: 146,175,529 (GRCm39) D326H probably damaging Het
St8sia1 G A 6: 142,859,860 (GRCm39) L90F probably damaging Het
Thsd4 T A 9: 59,896,313 (GRCm39) Y657F probably benign Het
Thsd7a A T 6: 12,327,659 (GRCm39) C1404* probably null Het
Tma16 A C 8: 66,934,129 (GRCm39) C75W probably damaging Het
Trgv4 T C 13: 19,369,236 (GRCm39) V29A probably benign Het
Trim3 T A 7: 105,267,047 (GRCm39) H444L probably damaging Het
Trmt10a A T 3: 137,854,146 (GRCm39) K75* probably null Het
Ttn T C 2: 76,561,644 (GRCm39) D28954G probably damaging Het
Uggt2 A G 14: 119,273,376 (GRCm39) probably null Het
Vars1 T A 17: 35,234,702 (GRCm39) V1177E probably benign Het
Vmn2r114 G T 17: 23,527,008 (GRCm39) A508E probably benign Het
Vmn2r19 G T 6: 123,286,800 (GRCm39) K144N probably benign Het
Wdr41 C T 13: 95,151,682 (GRCm39) Q281* probably null Het
Zfp938 T A 10: 82,061,957 (GRCm39) Q221L probably benign Het
Other mutations in Prkar2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02064:Prkar2a APN 9 108,610,403 (GRCm39) missense possibly damaging 0.92
IGL02073:Prkar2a APN 9 108,610,322 (GRCm39) missense probably damaging 0.99
IGL02117:Prkar2a APN 9 108,596,460 (GRCm39) missense probably damaging 1.00
IGL02268:Prkar2a APN 9 108,624,152 (GRCm39) missense probably benign 0.04
IGL02635:Prkar2a APN 9 108,605,476 (GRCm39) missense probably damaging 0.99
IGL03006:Prkar2a APN 9 108,617,640 (GRCm39) missense probably benign
PIT4486001:Prkar2a UTSW 9 108,610,326 (GRCm39) missense probably damaging 1.00
R0335:Prkar2a UTSW 9 108,596,457 (GRCm39) missense probably damaging 1.00
R0920:Prkar2a UTSW 9 108,596,496 (GRCm39) splice site probably benign
R0943:Prkar2a UTSW 9 108,610,475 (GRCm39) splice site probably benign
R1513:Prkar2a UTSW 9 108,605,469 (GRCm39) missense possibly damaging 0.82
R2178:Prkar2a UTSW 9 108,617,737 (GRCm39) critical splice donor site probably null
R3820:Prkar2a UTSW 9 108,624,155 (GRCm39) missense probably damaging 1.00
R3842:Prkar2a UTSW 9 108,605,467 (GRCm39) missense probably damaging 1.00
R4807:Prkar2a UTSW 9 108,617,584 (GRCm39) intron probably benign
R5051:Prkar2a UTSW 9 108,622,690 (GRCm39) missense probably benign 0.00
R5435:Prkar2a UTSW 9 108,617,682 (GRCm39) missense probably damaging 1.00
R6979:Prkar2a UTSW 9 108,610,342 (GRCm39) missense possibly damaging 0.76
R7121:Prkar2a UTSW 9 108,569,821 (GRCm39) missense probably benign
R7199:Prkar2a UTSW 9 108,617,669 (GRCm39) missense probably damaging 1.00
R7819:Prkar2a UTSW 9 108,622,744 (GRCm39) missense probably damaging 1.00
R8194:Prkar2a UTSW 9 108,569,710 (GRCm39) missense probably damaging 1.00
R8218:Prkar2a UTSW 9 108,596,448 (GRCm39) missense possibly damaging 0.83
R8253:Prkar2a UTSW 9 108,617,638 (GRCm39) missense probably damaging 1.00
X0060:Prkar2a UTSW 9 108,622,781 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-03-17