Incidental Mutation 'R8218:Prkar2a'
ID 636488
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 067637-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8218 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 108569342-108627643 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 108596448 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 131 (A131D)
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: A131D

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000035220
Gene: ENSMUSG00000032601
AA Change: A131D

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 unknown
Transcript: ENSMUST00000192344
AA Change: L26I
Predicted Effect possibly damaging
Transcript: ENSMUST00000195405
AA Change: A131D

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141869
Gene: ENSMUSG00000032601
AA Change: A131D

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
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency 99% (72/73)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik G A 15: 84,839,668 (GRCm39) H191Y probably damaging Het
5730480H06Rik T A 5: 48,536,769 (GRCm39) L155* probably null Het
Ackr4 T C 9: 103,976,410 (GRCm39) N179S probably benign Het
Acp5 T C 9: 22,040,902 (GRCm39) Y107C probably damaging Het
Aff4 A T 11: 53,289,084 (GRCm39) H411L probably damaging Het
Atp5pb A G 3: 105,866,502 (GRCm39) M1T probably null Het
Atp8b5 G A 4: 43,372,728 (GRCm39) probably null Het
C1qtnf2 A G 11: 43,381,775 (GRCm39) T166A possibly damaging Het
Dctn2 A G 10: 127,112,398 (GRCm39) D170G probably damaging Het
Dennd3 T A 15: 73,384,622 (GRCm39) S10T probably benign Het
Ehbp1 T C 11: 22,046,096 (GRCm39) Y551C possibly damaging Het
Eif4g2 A T 7: 110,673,639 (GRCm39) D743E possibly damaging Het
Esr1 G A 10: 4,696,808 (GRCm39) probably null Het
Exo1 A T 1: 175,728,480 (GRCm39) I515L probably benign Het
Fam83h C T 15: 75,874,886 (GRCm39) G817D probably damaging Het
Flvcr2 GTAGTGTATA GTA 12: 85,849,922 (GRCm39) probably null Het
Garin1a T C 6: 29,286,072 (GRCm39) I177T probably damaging Het
Gcn1 G A 5: 115,719,588 (GRCm39) S361N probably benign Het
Gm6337 C T 14: 6,050,613 (GRCm38) probably null Het
Grk4 T A 5: 34,826,540 (GRCm39) S47T probably benign Het
Gstp2 C A 19: 4,091,668 (GRCm39) M20I probably benign Het
Harbi1 T C 2: 91,543,237 (GRCm39) F233L probably benign Het
Iqch C T 9: 63,389,915 (GRCm39) V755I possibly damaging Het
Iws1 T C 18: 32,226,688 (GRCm39) F756L probably benign Het
Kcnh6 T G 11: 105,908,200 (GRCm39) V272G possibly damaging Het
Kcnj10 C T 1: 172,196,539 (GRCm39) R18C probably damaging Het
Kmt2c A C 5: 25,488,104 (GRCm39) S4670A probably damaging Het
Krt80 T G 15: 101,267,884 (GRCm39) M18L probably benign Het
Lbx1 A G 19: 45,223,359 (GRCm39) V103A probably benign Het
Marchf8 A T 6: 116,315,059 (GRCm39) probably benign Het
Muc16 T A 9: 18,548,315 (GRCm39) T5993S possibly damaging Het
Or10ag57 C T 2: 87,218,922 (GRCm39) T291I probably damaging Het
Or1j17 A G 2: 36,578,685 (GRCm39) T224A probably benign Het
Or1o4 A G 17: 37,590,711 (GRCm39) V200A probably benign Het
Or8k17 C T 2: 86,066,862 (GRCm39) V106M probably benign Het
Pbxip1 A G 3: 89,352,902 (GRCm39) I183V probably benign Het
Pcdh20 T A 14: 88,706,047 (GRCm39) I418F probably damaging Het
Pclo T C 5: 14,725,677 (GRCm39) F1512L unknown Het
Phf2 G T 13: 48,958,104 (GRCm39) T970K unknown Het
Pidd1 A G 7: 141,019,566 (GRCm39) V698A probably damaging Het
Pik3ca T A 3: 32,491,996 (GRCm39) V198D possibly damaging Het
Pip5k1c T A 10: 81,142,250 (GRCm39) D153E probably damaging Het
Ppfia2 A G 10: 106,699,236 (GRCm39) D795G probably benign Het
Pramel12 A T 4: 143,145,706 (GRCm39) I392F probably benign Het
Pter A G 2: 12,985,366 (GRCm39) D232G probably damaging Het
Qser1 C T 2: 104,593,268 (GRCm39) R1583Q probably damaging Het
Rasal2 A C 1: 156,984,951 (GRCm39) V932G probably damaging Het
Rasgrf2 G A 13: 92,130,796 (GRCm39) A154V Het
Rbm4 A G 19: 4,837,444 (GRCm39) Y347H probably damaging Het
Rfxank C A 8: 70,584,085 (GRCm39) probably null Het
Robo1 C G 16: 72,786,678 (GRCm39) R897G possibly damaging Het
Sash1 G A 10: 8,627,000 (GRCm39) T364I probably damaging Het
Skint6 T A 4: 112,696,471 (GRCm39) probably null Het
Slc22a4 T A 11: 53,877,407 (GRCm39) M495L probably benign Het
Slc39a8 G A 3: 135,563,325 (GRCm39) V212I probably benign Het
Slc40a1 A C 1: 45,950,129 (GRCm39) V441G probably benign Het
Slc7a11 A T 3: 50,378,501 (GRCm39) Y246N probably damaging Het
Spata9 T C 13: 76,125,892 (GRCm39) V125A probably benign Het
Svopl T A 6: 37,991,741 (GRCm39) M380L probably benign Het
Sycp2l T C 13: 41,271,544 (GRCm39) Y23H probably damaging Het
Syt11 A T 3: 88,669,427 (GRCm39) V155E probably benign Het
Syt5 T C 7: 4,545,822 (GRCm39) Y147C probably damaging Het
Thg1l T C 11: 45,846,277 (GRCm39) T6A probably benign Het
Tlr2 A G 3: 83,745,546 (GRCm39) L179P probably damaging Het
Tsn A T 1: 118,232,984 (GRCm39) Y107N probably damaging Het
Tspan32 A T 7: 142,564,832 (GRCm39) Y114F probably benign Het
Tube1 A C 10: 39,023,375 (GRCm39) S341R possibly damaging Het
Ubn2 T A 6: 38,466,214 (GRCm39) V516D probably benign Het
Vmn1r21 G T 6: 57,820,910 (GRCm39) T178K noncoding transcript Het
Vmn2r108 A G 17: 20,683,465 (GRCm39) Y580H probably damaging Het
Wdr75 T A 1: 45,857,342 (GRCm39) F546L probably damaging Het
Yy1 A G 12: 108,759,619 (GRCm39) D94G probably benign Het
Zfhx3 A G 8: 109,677,349 (GRCm39) T2800A probably benign Het
Zfy2 T C Y: 2,133,421 (GRCm39) T9A unknown 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
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
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'- TGCCTTTCCATAGCAGCAC -3'
(R):5'- TTCAACTGCAGCTAATGTGC -3'

Sequencing Primer
(F):5'- CACACTGCTTGCTGTTTTTGTAG -3'
(R):5'- ATCAACCAGCTGGGCATG -3'
Posted On 2020-07-13