Incidental Mutation 'R6979:Prkar2a'
ID 542619
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 045087-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6979 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 108569342-108627643 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108610342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 190 (N190K)
Ref Sequence ENSEMBL: ENSMUSP00000035220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035220] [ENSMUST00000192344] [ENSMUST00000195405]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000035220
AA Change: N190K

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000035220
Gene: ENSMUSG00000032601
AA Change: N190K

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
Predicted Effect probably benign
Transcript: ENSMUST00000192344
Predicted Effect probably benign
Transcript: ENSMUST00000195405
AA Change: N190K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000141869
Gene: ENSMUSG00000032601
AA Change: N190K

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
Meta Mutation Damage Score 0.0816 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency 100% (50/50)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac C T 3: 59,947,424 (GRCm39) T374M probably benign Het
Aspg A G 12: 112,087,378 (GRCm39) D278G possibly damaging Het
Aspm C A 1: 139,408,223 (GRCm39) A2370E probably damaging Het
Ccnt2 T C 1: 127,702,873 (GRCm39) M65T probably damaging Het
Cd163 A G 6: 124,294,945 (GRCm39) T670A probably benign Het
Cpne3 G A 4: 19,533,098 (GRCm39) T279I probably benign Het
Ctdspl G A 9: 118,869,598 (GRCm39) V227M probably damaging Het
Ctnnd2 A G 15: 30,619,376 (GRCm39) E99G probably damaging Het
Dapk1 T C 13: 60,896,095 (GRCm39) S728P probably damaging Het
Dmxl2 A G 9: 54,358,163 (GRCm39) I512T possibly damaging Het
Dop1a A T 9: 86,403,695 (GRCm39) T1630S possibly damaging Het
Dqx1 A G 6: 83,037,992 (GRCm39) D460G probably damaging Het
Foxg1 T C 12: 49,431,567 (GRCm39) probably benign Het
H2-Q2 T A 17: 35,564,623 (GRCm39) probably null Het
Hes6 T C 1: 91,340,810 (GRCm39) E17G possibly damaging Het
Ighv1-42 T C 12: 114,900,848 (GRCm39) Y79C possibly damaging Het
Itfg2 T C 6: 128,388,554 (GRCm39) D311G probably damaging Het
Itgb5 T A 16: 33,740,356 (GRCm39) C489S probably damaging Het
Map4k5 A T 12: 69,869,622 (GRCm39) C488S probably damaging Het
Mark1 C T 1: 184,644,825 (GRCm39) G377D possibly damaging Het
Mat2a A G 6: 72,412,096 (GRCm39) V318A probably damaging Het
Mpp7 T G 18: 7,355,049 (GRCm39) N459T possibly damaging Het
Mrc2 C A 11: 105,239,461 (GRCm39) N1348K probably damaging Het
Mroh5 T C 15: 73,664,978 (GRCm39) K264R probably benign Het
Mtor A G 4: 148,608,930 (GRCm39) M1529V possibly damaging Het
Mtrr C T 13: 68,718,122 (GRCm39) probably null Het
Nwd1 C T 8: 73,394,288 (GRCm39) P517L probably damaging Het
Or4a27 T A 2: 88,559,528 (GRCm39) R138S probably benign Het
Or8h10 A G 2: 86,808,577 (GRCm39) S188P probably damaging Het
Polr1c A G 17: 46,557,095 (GRCm39) F63L probably damaging Het
Polrmt C T 10: 79,582,400 (GRCm39) probably null Het
Pomt2 T C 12: 87,177,125 (GRCm39) I287M probably damaging Het
Prl3d3 T A 13: 27,341,545 (GRCm39) Y59N possibly damaging Het
Prl5a1 T A 13: 28,335,189 (GRCm39) F199L probably benign Het
Prpf38b A G 3: 108,818,640 (GRCm39) V40A probably benign Het
Ptchd1 T A X: 154,357,708 (GRCm39) Y499F probably damaging Het
Ptgs1 A G 2: 36,141,311 (GRCm39) D586G probably benign Het
Slx4 T C 16: 3,802,879 (GRCm39) K1312E probably damaging Het
Smok3c A G 5: 138,062,987 (GRCm39) D158G probably benign Het
Spen A T 4: 141,205,374 (GRCm39) D1084E unknown Het
Tcp11l1 C T 2: 104,536,784 (GRCm39) G27D probably benign Het
Tep1 A G 14: 51,076,094 (GRCm39) S1679P possibly damaging Het
Tmem259 C T 10: 79,814,391 (GRCm39) V322I possibly damaging Het
Tmpo A T 10: 90,988,359 (GRCm39) probably null Het
Ttn C A 2: 76,555,137 (GRCm39) A30623S probably damaging Het
Ube2l3 G A 16: 16,977,841 (GRCm39) probably benign Het
Unkl A G 17: 25,418,890 (GRCm39) D146G probably damaging Het
Vmn1r51 A T 6: 90,106,186 (GRCm39) H34L possibly damaging Het
Vmn2r17 A G 5: 109,576,265 (GRCm39) T379A possibly damaging Het
Zfp35 G T 18: 24,136,927 (GRCm39) G424C probably benign Het
Zfp420 T A 7: 29,575,446 (GRCm39) H555Q probably damaging 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
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
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
(F):5'- GCAAAATTATGTTGGTTATCCCCTG -3'
(R):5'- ACATGTGGCTAAGTCATTGAGGAAAC -3'

Sequencing Primer
(F):5'- ACATGAACTGCTATGCCTGG -3'
(R):5'- TAGTGACACGTGACACGA -3'
Posted On 2018-11-28