Incidental Mutation 'IGL02117:Prkar2a'
ID 280445
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkar2a
Ensembl Gene ENSMUSG00000032601
Gene Name protein kinase, cAMP dependent regulatory, type II alpha
Synonyms 1110061A24Rik, RII(alpha)
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02117
Quality Score
Status
Chromosome 9
Chromosomal Location 108569342-108627643 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108596460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 135 (I135N)
Ref Sequence ENSEMBL: ENSMUSP00000141869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035220] [ENSMUST00000192344] [ENSMUST00000195405]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000035220
AA Change: I135N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035220
Gene: ENSMUSG00000032601
AA Change: I135N

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000192068
AA Change: I34N
Predicted Effect unknown
Transcript: ENSMUST00000192344
AA Change: F30I
Predicted Effect probably damaging
Transcript: ENSMUST00000195405
AA Change: I135N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141869
Gene: ENSMUSG00000032601
AA Change: I135N

DomainStartEndE-ValueType
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
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T A 2: 151,315,466 (GRCm39) M71L probably benign Het
Abcb11 A G 2: 69,154,169 (GRCm39) probably benign Het
Ago4 T C 4: 126,410,645 (GRCm39) T249A probably benign Het
Ahr A T 12: 35,562,922 (GRCm39) C92* probably null Het
Arhgap17 G A 7: 122,885,996 (GRCm39) probably benign Het
Arid1a G T 4: 133,420,126 (GRCm39) T992K unknown Het
Camk2a A G 18: 61,111,061 (GRCm39) I83M probably damaging Het
Ccdc154 T C 17: 25,386,792 (GRCm39) probably null Het
Chtf18 T C 17: 25,941,177 (GRCm39) H607R possibly damaging Het
Col25a1 T C 3: 130,313,422 (GRCm39) probably benign Het
Col9a1 C T 1: 24,276,574 (GRCm39) Q530* probably null Het
Cryl1 G T 14: 57,523,904 (GRCm39) D219E probably damaging Het
Cul3 A T 1: 80,300,781 (GRCm39) probably benign Het
Cul9 C A 17: 46,851,301 (GRCm39) R373L probably benign Het
Exo1 A G 1: 175,721,309 (GRCm39) Y316C possibly damaging Het
Fam114a1 G A 5: 65,187,465 (GRCm39) V408M probably benign Het
Hmcn2 A T 2: 31,347,185 (GRCm39) S4792C possibly damaging Het
Hps5 A G 7: 46,432,940 (GRCm39) F260S probably damaging Het
Hrh4 T C 18: 13,155,477 (GRCm39) S339P probably benign Het
Ist1 A T 8: 110,405,584 (GRCm39) L152Q probably damaging Het
Marco A G 1: 120,418,683 (GRCm39) V190A probably benign Het
Mdn1 T C 4: 32,709,364 (GRCm39) V1711A probably benign Het
Mmp9 A G 2: 164,791,644 (GRCm39) Y179C probably damaging Het
Mrgprb5 A G 7: 47,818,742 (GRCm39) probably benign Het
Mrgprx1 G T 7: 47,671,371 (GRCm39) C125* probably null Het
Msh6 A G 17: 88,298,234 (GRCm39) probably benign Het
Myot C A 18: 44,488,177 (GRCm39) R441S probably benign Het
Or11g7 A G 14: 50,691,399 (GRCm39) R297G possibly damaging Het
Paf1 A G 7: 28,098,115 (GRCm39) probably benign Het
Pde11a A G 2: 75,821,606 (GRCm39) L891P probably damaging Het
Rap1gap C T 4: 137,454,355 (GRCm39) T646M probably damaging Het
Rgs7bp T C 13: 105,088,087 (GRCm39) D229G possibly damaging Het
Rhobtb3 C T 13: 76,025,547 (GRCm39) S523N probably damaging Het
Setd7 A T 3: 51,428,826 (GRCm39) Y335N probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Socs4 T C 14: 47,528,264 (GRCm39) Y400H probably damaging Het
Spag16 A T 1: 69,909,479 (GRCm39) H192L probably damaging Het
Ssh1 A T 5: 114,084,541 (GRCm39) C566* probably null Het
Stap1 T G 5: 86,234,552 (GRCm39) I98S possibly damaging Het
Tgs1 C T 4: 3,585,836 (GRCm39) H238Y probably damaging Het
Tifab T C 13: 56,324,275 (GRCm39) Y56C probably benign Het
Tssk2 A G 16: 17,717,653 (GRCm39) E352G probably benign Het
Vmn2r57 A T 7: 41,049,874 (GRCm39) V625D probably benign Het
Wbp1l T C 19: 46,632,876 (GRCm39) Y75H probably benign Het
Wnt5a T C 14: 28,228,077 (GRCm39) 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
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
R4886:Prkar2a UTSW 9 108,622,823 (GRCm39) critical splice donor site probably null
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
Posted On 2015-04-16