Incidental Mutation 'R7121:Prkar2a'
ID 552018
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 045210-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7121 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 108569342-108627643 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108569821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 56 (T56A)
Ref Sequence ENSEMBL: ENSMUSP00000035220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035220] [ENSMUST00000192344] [ENSMUST00000195405]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000035220
AA Change: T56A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035220
Gene: ENSMUSG00000032601
AA Change: T56A

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: ENSMUST00000192344
Predicted Effect probably benign
Transcript: ENSMUST00000195405
AA Change: T56A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141869
Gene: ENSMUSG00000032601
AA Change: T56A

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (71/72)
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. 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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411K16Rik C T 19: 42,041,112 (GRCm39) A81V probably benign Het
Abcc9 A T 6: 142,634,853 (GRCm39) L137* probably null Het
Akap10 A G 11: 61,777,524 (GRCm39) probably null Het
Alms1 T A 6: 85,601,604 (GRCm39) Y1683N probably damaging Het
Atl1 A G 12: 69,978,408 (GRCm39) S127G probably damaging Het
Cadm1 G A 9: 47,710,708 (GRCm39) V204M probably damaging Het
Cbr3 T A 16: 93,487,438 (GRCm39) I207N probably damaging Het
Ccdc148 A T 2: 58,717,579 (GRCm39) Y475N probably damaging Het
Ccdc33 A T 9: 57,988,167 (GRCm39) S144T probably benign Het
Ceacam5 C A 7: 17,479,462 (GRCm39) A193E probably benign Het
Chd2 T C 7: 73,119,418 (GRCm39) D1042G probably benign Het
Chmp5 A T 4: 40,952,217 (GRCm39) probably null Het
Clca3a1 T A 3: 144,717,567 (GRCm39) N467I probably damaging Het
D130040H23Rik T C 8: 69,754,931 (GRCm39) V112A probably damaging Het
Dbh A T 2: 27,058,318 (GRCm39) D162V probably damaging Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
Dnm2 C T 9: 21,385,862 (GRCm39) T295I probably benign Het
Faiml A C 9: 99,116,446 (GRCm39) D81E probably benign Het
Fer1l4 T A 2: 155,886,477 (GRCm39) Y720F probably benign Het
Fn1 A C 1: 71,639,697 (GRCm39) probably benign Het
Ftsj3 T C 11: 106,143,123 (GRCm39) E397G probably damaging Het
Gm16506 T C 14: 43,964,817 (GRCm39) K42E Het
Gpr179 A G 11: 97,225,556 (GRCm39) S2200P probably benign Het
Gusb T C 5: 130,028,884 (GRCm39) D202G probably benign Het
Hspe1 A G 1: 55,128,310 (GRCm39) E35G probably damaging Het
Kptn T A 7: 15,857,023 (GRCm39) H170Q probably damaging Het
Lama3 G A 18: 12,595,839 (GRCm39) A923T probably benign Het
Lmo7 T A 14: 102,124,471 (GRCm39) I432K probably damaging Het
Maneal G A 4: 124,750,905 (GRCm39) P284S probably benign Het
Mrgbp A G 2: 180,224,682 (GRCm39) T28A probably benign Het
Myo1h T C 5: 114,476,290 (GRCm39) V493A Het
Naxd T C 8: 11,556,745 (GRCm39) L122P probably damaging Het
Neto2 T C 8: 86,397,020 (GRCm39) probably null Het
Obscn T A 11: 58,904,078 (GRCm39) R7299* probably null Het
Odf2l G A 3: 144,845,581 (GRCm39) V363I possibly damaging Het
Or2g25 T C 17: 37,970,699 (GRCm39) H175R probably damaging Het
Or2t35 A G 14: 14,407,998 (GRCm38) T257A possibly damaging Het
Or4c100 A T 2: 88,356,170 (GRCm39) D81V probably damaging Het
Or52a5b A T 7: 103,416,940 (GRCm39) Y221* probably null Het
Or5b105 T A 19: 13,080,537 (GRCm39) I44F probably benign Het
Otud3 G A 4: 138,624,067 (GRCm39) P325L probably benign Het
Palb2 T C 7: 121,724,057 (GRCm39) N564S probably benign Het
Pcnt A G 10: 76,263,761 (GRCm39) V401A possibly damaging Het
Plcd4 G A 1: 74,604,524 (GRCm39) E767K probably benign Het
Ppp3ca T C 3: 136,574,387 (GRCm39) F95S probably damaging Het
Psma2 T A 13: 14,799,815 (GRCm39) D186E probably benign Het
Psmd11 T A 11: 80,329,099 (GRCm39) Y72* probably null Het
Ror1 G A 4: 100,160,142 (GRCm39) D53N probably benign Het
Rubcn C T 16: 32,656,839 (GRCm39) R527Q probably damaging Het
Sgca G A 11: 94,860,373 (GRCm39) P255S possibly damaging Het
Skint11 A T 4: 114,084,993 (GRCm39) R167S probably benign Het
Slco5a1 A G 1: 13,060,661 (GRCm39) V20A probably benign Het
Snai2 T C 16: 14,524,970 (GRCm39) S159P probably benign Het
Taar2 T G 10: 23,816,725 (GRCm39) S88R probably damaging Het
Tacc3 T A 5: 33,824,509 (GRCm39) N378K possibly damaging Het
Tek A G 4: 94,699,647 (GRCm39) K342E probably benign Het
Tm9sf3 G T 19: 41,233,944 (GRCm39) S198* probably null Het
Tmbim4 T A 10: 120,051,514 (GRCm39) F56I possibly damaging Het
Tsen34 T A 7: 3,697,986 (GRCm39) S85T probably benign Het
Ttc27 C A 17: 75,054,710 (GRCm39) Q339K probably benign Het
Ubap2 G T 4: 41,205,550 (GRCm39) P636T probably benign Het
Ubr1 G A 2: 120,705,979 (GRCm39) L1495F probably benign Het
Vsig10 T C 5: 117,481,967 (GRCm39) S386P probably damaging Het
Wnk2 C A 13: 49,300,653 (GRCm39) R19L probably benign Het
Wsb2 T C 5: 117,508,944 (GRCm39) L126P probably damaging Het
Xylb A G 9: 119,211,358 (GRCm39) I402V probably benign Het
Yrdc A G 4: 124,744,748 (GRCm39) S61G probably benign Het
Zbtb3 A G 19: 8,780,771 (GRCm39) D128G probably damaging Het
Zfp423 C T 8: 88,507,489 (GRCm39) G952R probably damaging Het
Zfp646 A G 7: 127,478,944 (GRCm39) T374A possibly 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
R6979:Prkar2a UTSW 9 108,610,342 (GRCm39) missense possibly damaging 0.76
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 2019-05-15