Incidental Mutation 'IGL03022:Prkaca'
ID 408018
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkaca
Ensembl Gene ENSMUSG00000005469
Gene Name protein kinase, cAMP dependent, catalytic, alpha
Synonyms PKA, C alpha, Cs, Pkaca
Accession Numbers
Essential gene? Probably essential (E-score: 0.781) question?
Stock # IGL03022
Quality Score
Status
Chromosome 8
Chromosomal Location 84699622-84723072 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84721976 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 329 (D329G)
Ref Sequence ENSEMBL: ENSMUSP00000005606 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005606] [ENSMUST00000095228] [ENSMUST00000211558]
AlphaFold P05132
PDB Structure 2.0 ANGSTROM REFINED CRYSTAL STRUCTURE OF THE CATALYTIC SUBUNIT OF CAMP-DEPENDENT PROTEIN KINASE COMPLEXED WITH A PEPTIDE INHIBITOR AND DETERGENT [X-RAY DIFFRACTION]
2.2 angstrom refined crystal structure of the catalytic subunit of cAMP-dependent protein kinase complexed with MNATP and a peptide inhibitor [X-RAY DIFFRACTION]
A BINARY COMPLEX OF THE CATALYTIC SUBUNIT OF CAMP-DEPENDENT PROTEIN KINASE AND ADENOSINE FURTHER DEFINES CONFORMATIONAL FLEXIBILITY [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE POTENT NATURAL PRODUCT INHIBITOR BALANOL IN COMPLEX WITH THE CATALYTIC SUBUNIT OF CAMP-DEPENDENT PROTEIN KINASE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF A POLYHISTIDINE-TAGGED RECOMBINANT CATALYTIC SUBUNIT OF CAMP-DEPENDENT PROTEIN KINASE COMPLEXED WITH THE PEPTIDE INHIBITOR PKI(5-24) AND ADENOSINE [X-RAY DIFFRACTION]
Crystal structure of apoenzyme cAMP-dependent protein kinase catalytic subunit [X-RAY DIFFRACTION]
Crystal Structure of the Catalytic Subunit of cAMP-dependent Protein Kinase Complexed with a Substrate Peptide, ADP and Detergent [X-RAY DIFFRACTION]
Crystal Structure of the Catalytic Subunit of cAMP-dependent Protein Kinase Complexed with a Phosphorylated Substrate Peptide and Detergent [X-RAY DIFFRACTION]
Crystal Structure of a Transition State Mimic of the Catalytic Subunit of cAMP-dependent Protein Kinase [X-RAY DIFFRACTION]
Hydrolysis of ATP in the crystal of Y204A mutant of cAMP-dependent protein kinase [X-RAY DIFFRACTION]
>> 50 additional structures at PDB <<
Predicted Effect possibly damaging
Transcript: ENSMUST00000005606
AA Change: D329G

PolyPhen 2 Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000005606
Gene: ENSMUSG00000005469
AA Change: D329G

DomainStartEndE-ValueType
S_TKc 44 298 2e-107 SMART
S_TK_X 299 344 3.7e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000095228
SMART Domains Protein: ENSMUSP00000092853
Gene: ENSMUSG00000079003

DomainStartEndE-ValueType
low complexity region 2 29 N/A INTRINSIC
low complexity region 100 230 N/A INTRINSIC
low complexity region 256 277 N/A INTRINSIC
low complexity region 278 301 N/A INTRINSIC
low complexity region 302 323 N/A INTRINSIC
low complexity region 402 423 N/A INTRINSIC
SAM 440 506 2.91e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209606
Predicted Effect probably benign
Transcript: ENSMUST00000210523
Predicted Effect probably benign
Transcript: ENSMUST00000211558
AA Change: D321G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the serine/threonine protein kinase family. The holoenzyme, protein kinase A (also known as cyclic-AMP dependent protein kinase), mediates cellular response to changes in cyclic-AMP levels. This gene encodes the alpha catalytic subunit of protein kinase A. Protein kinase A-mediated signaling is transduced via phosphorylation of target proteins, and is important for many cellular functions, including mammalian sperm maturation and motility. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygous mutant mice are highly susceptible to perinatal lethality. Surviving mice are runted and while spermatogenesis progresses normally, mature sperm shows impaired motility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr2b G T 9: 119,256,587 (GRCm39) R40L probably benign Het
Asph T C 4: 9,517,668 (GRCm39) N402D possibly damaging Het
Brip1 T C 11: 85,968,776 (GRCm39) Y803C probably damaging Het
Cenpc1 T C 5: 86,170,234 (GRCm39) probably benign Het
Dynlt5 A G 4: 102,859,714 (GRCm39) T85A probably benign Het
Fam110b A G 4: 5,799,448 (GRCm39) M289V probably benign Het
Fam193b T C 13: 55,691,475 (GRCm39) N429S probably damaging Het
Folh1 T C 7: 86,395,379 (GRCm39) Y351C possibly damaging Het
Fryl G A 5: 73,216,726 (GRCm39) A2188V possibly damaging Het
Gtf2f1 C T 17: 57,317,971 (GRCm39) probably null Het
Gucy1a1 T C 3: 82,016,404 (GRCm39) K195E probably benign Het
H2-Oa T C 17: 34,313,023 (GRCm39) V100A probably damaging Het
Kcnu1 A T 8: 26,427,614 (GRCm39) K310N probably damaging Het
Mtss1 A G 15: 58,825,439 (GRCm39) S254P probably damaging Het
N4bp2l2 A G 5: 150,566,761 (GRCm39) S516P probably benign Het
Nrcam A G 12: 44,645,225 (GRCm39) D1139G probably damaging Het
Nxpe4 T C 9: 48,304,548 (GRCm39) S212P probably damaging Het
Or1ab2 A C 8: 72,863,968 (GRCm39) K186T probably damaging Het
Or5d47 C T 2: 87,804,341 (GRCm39) V223I probably benign Het
Or5p52 A T 7: 107,502,188 (GRCm39) H88L probably benign Het
Parp2 T C 14: 51,058,553 (GRCm39) Y528H probably damaging Het
Pdgfd T C 9: 6,288,495 (GRCm39) Y50H probably damaging Het
Rbbp8 A G 18: 11,858,559 (GRCm39) probably benign Het
Sele A G 1: 163,882,248 (GRCm39) T578A probably benign Het
Shroom2 A G X: 151,443,089 (GRCm39) V692A probably benign Het
Stxbp3 G A 3: 108,708,072 (GRCm39) L410F probably damaging Het
Tcaf1 C A 6: 42,655,060 (GRCm39) G553* probably null Het
Ttn G A 2: 76,576,862 (GRCm39) T24677M probably damaging Het
Vmn2r24 T A 6: 123,755,967 (GRCm39) L13H probably damaging Het
Zfp106 C A 2: 120,359,120 (GRCm39) probably benign Het
Zfp616 A G 11: 73,973,800 (GRCm39) D23G possibly damaging Het
Zfp84 T C 7: 29,474,759 (GRCm39) probably benign Het
Other mutations in Prkaca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01832:Prkaca APN 8 84,717,366 (GRCm39) missense probably damaging 1.00
IGL02011:Prkaca APN 8 84,717,565 (GRCm39) missense probably damaging 1.00
IGL03038:Prkaca APN 8 84,721,580 (GRCm39) missense probably benign
IGL03236:Prkaca APN 8 84,717,074 (GRCm39) missense probably damaging 1.00
Undergraduate UTSW 8 84,713,524 (GRCm39) missense probably benign 0.07
R0013:Prkaca UTSW 8 84,714,932 (GRCm39) missense possibly damaging 0.64
R0458:Prkaca UTSW 8 84,721,911 (GRCm39) splice site probably benign
R1693:Prkaca UTSW 8 84,707,827 (GRCm39) missense probably benign
R1827:Prkaca UTSW 8 84,717,616 (GRCm39) critical splice donor site probably null
R1860:Prkaca UTSW 8 84,707,852 (GRCm39) missense probably benign 0.11
R1955:Prkaca UTSW 8 84,714,946 (GRCm39) missense probably damaging 0.97
R4084:Prkaca UTSW 8 84,721,939 (GRCm39) missense probably damaging 1.00
R4770:Prkaca UTSW 8 84,717,499 (GRCm39) missense probably benign 0.05
R7867:Prkaca UTSW 8 84,721,963 (GRCm39) missense probably benign 0.00
R7887:Prkaca UTSW 8 84,713,524 (GRCm39) missense probably benign 0.07
R8313:Prkaca UTSW 8 84,717,151 (GRCm39) missense probably damaging 1.00
R8893:Prkaca UTSW 8 84,717,151 (GRCm39) missense probably damaging 1.00
R8902:Prkaca UTSW 8 84,703,714 (GRCm39) missense probably benign 0.11
R9184:Prkaca UTSW 8 84,717,305 (GRCm39) missense probably benign 0.01
R9642:Prkaca UTSW 8 84,717,088 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02