Incidental Mutation 'IGL02268:Prkar2a'
ID 287027
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 # IGL02268
Quality Score
Status
Chromosome 9
Chromosomal Location 108569342-108627643 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108624152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 390 (M390V)
Ref Sequence ENSEMBL: ENSMUSP00000035220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035220] [ENSMUST00000195405]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000035220
AA Change: M390V

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000035220
Gene: ENSMUSG00000032601
AA Change: M390V

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 probably benign
Transcript: ENSMUST00000192068
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195263
Predicted Effect probably benign
Transcript: ENSMUST00000195405
AA Change: M368V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141869
Gene: ENSMUSG00000032601
AA Change: M368V

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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik C T 10: 28,862,242 (GRCm39) C16Y probably benign Het
Abca13 C T 11: 9,240,626 (GRCm39) L830F probably benign Het
Apcdd1 T C 18: 63,083,259 (GRCm39) V363A probably damaging Het
Atosb T A 4: 43,036,468 (GRCm39) R88* probably null Het
Cachd1 A G 4: 100,809,294 (GRCm39) I260V possibly damaging Het
Cass4 T A 2: 172,268,962 (GRCm39) M350K possibly damaging Het
Ccnjl A G 11: 43,470,615 (GRCm39) T128A probably benign Het
Cd6 C T 19: 10,773,752 (GRCm39) G361D probably benign Het
Cdh22 T C 2: 164,965,639 (GRCm39) probably benign Het
Ces2h T A 8: 105,746,572 (GRCm39) F475Y probably benign Het
Col15a1 A T 4: 47,245,380 (GRCm39) T44S probably damaging Het
Cplx3 C T 9: 57,509,741 (GRCm39) E86K possibly damaging Het
Crbn A G 6: 106,772,004 (GRCm39) V100A possibly damaging Het
D430041D05Rik C A 2: 104,071,500 (GRCm39) V1267L possibly damaging Het
Ecrg4 T A 1: 43,770,111 (GRCm39) C23S probably damaging Het
Elapor1 C A 3: 108,375,113 (GRCm39) A585S probably benign Het
F930017D23Rik A G 10: 43,480,405 (GRCm39) noncoding transcript Het
Fastkd3 A G 13: 68,731,796 (GRCm39) D39G probably damaging Het
Golgb1 T A 16: 36,733,490 (GRCm39) S912R probably benign Het
H2-T24 T C 17: 36,328,264 (GRCm39) Y73C probably damaging Het
Ifna9 A T 4: 88,510,591 (GRCm39) L11* probably null Het
Igsf10 A T 3: 59,238,573 (GRCm39) L536* probably null Het
Itprid1 A T 6: 55,861,673 (GRCm39) probably benign Het
Kcnma1 A T 14: 23,593,144 (GRCm39) I215K probably damaging Het
Kdm4c A C 4: 74,291,953 (GRCm39) I857L possibly damaging Het
Kptn A T 7: 15,857,786 (GRCm39) H229L probably benign Het
Krt32 A T 11: 99,978,967 (GRCm39) M29K probably benign Het
Lama2 A G 10: 26,877,112 (GRCm39) probably benign Het
Lpcat2b A C 5: 107,581,982 (GRCm39) D437A probably damaging Het
Lrrc8c T C 5: 105,755,764 (GRCm39) L513P probably damaging Het
Mon1a T C 9: 107,778,997 (GRCm39) V407A possibly damaging Het
Myo5c C T 9: 75,153,519 (GRCm39) P135L probably damaging Het
Myof C T 19: 37,942,877 (GRCm39) V218M possibly damaging Het
Myof T A 19: 37,963,311 (GRCm39) I429F possibly damaging Het
Nbas A G 12: 13,455,398 (GRCm39) D1204G possibly damaging Het
Nckap1 G A 2: 80,358,962 (GRCm39) P560S probably benign Het
Notch2 G A 3: 98,044,713 (GRCm39) G1545D probably damaging Het
Ntrk1 G A 3: 87,688,838 (GRCm39) H572Y probably damaging Het
Or2t44 T C 11: 58,677,551 (GRCm39) F164L probably benign Het
Or7e177 T C 9: 20,211,588 (GRCm39) S31P probably damaging Het
Pate8 T C 9: 36,493,166 (GRCm39) Y52C possibly damaging Het
Pcdh15 A T 10: 74,178,504 (GRCm39) D587V probably damaging Het
Pik3cb T C 9: 98,928,609 (GRCm39) Y882C probably benign Het
Plch1 T A 3: 63,606,704 (GRCm39) *1074C probably null Het
Plcxd1 T C 5: 110,248,140 (GRCm39) probably benign Het
Ppp2r2d A G 7: 138,474,700 (GRCm39) N27S probably null Het
Rab3gap1 A G 1: 127,796,695 (GRCm39) T18A probably damaging Het
Ranbp2 T C 10: 58,329,475 (GRCm39) probably benign Het
Rasl12 T C 9: 65,305,946 (GRCm39) S34P probably damaging Het
Rpusd3 A T 6: 113,395,818 (GRCm39) L65Q possibly damaging Het
Rtf2 A G 2: 172,310,639 (GRCm39) K290R probably damaging Het
Rwdd4a T A 8: 48,003,731 (GRCm39) L179* probably null Het
Scgb1b24 A G 7: 33,444,388 (GRCm39) E87G possibly damaging Het
Sgo2a A G 1: 58,056,881 (GRCm39) I1022V probably benign Het
Smg1 A C 7: 117,781,764 (GRCm39) I1174M probably benign Het
Spata17 A T 1: 186,872,595 (GRCm39) M72K probably damaging Het
Synpo2 G A 3: 122,910,632 (GRCm39) P338S probably damaging Het
Tpi1 G A 6: 124,791,087 (GRCm39) T50I probably benign Het
Trpm1 A G 7: 63,867,362 (GRCm39) E354G probably damaging Het
Uba2 A G 7: 33,842,161 (GRCm39) probably null Het
Wnk1 G A 6: 119,914,334 (GRCm39) R1823* probably null Het
Zfp248 A C 6: 118,430,801 (GRCm39) probably benign Het
Zfp51 A T 17: 21,683,681 (GRCm39) K99* probably null 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
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