Incidental Mutation 'IGL03011:Pkia'
ID 407782
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pkia
Ensembl Gene ENSMUSG00000027499
Gene Name protein kinase inhibitor, alpha
Synonyms PKIalpha
Accession Numbers
Essential gene? Not available question?
Stock # IGL03011
Quality Score
Status
Chromosome 3
Chromosomal Location 7431729-7510426 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 7507142 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 75 (E75*)
Ref Sequence ENSEMBL: ENSMUSP00000141466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028999] [ENSMUST00000192468] [ENSMUST00000193330]
AlphaFold P63248
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]
CRYSTAL STRUCTURE OF THE CATALYTIC SUBUNIT OF CYCLIC ADENOSINE MONOPHOSPHATE-DEPENDENT PROTEIN KINASE [X-RAY DIFFRACTION]
Protein kinase A fivefold mutant model of Rho-kinase with Y-27632 [X-RAY DIFFRACTION]
Protein kinase A fivefold mutant model of Rho-kinase [X-RAY DIFFRACTION]
Crystal Structure of F327A/K285P Mutant of cAMP-dependent Protein Kinase [X-RAY DIFFRACTION]
Crystal structure of cAMP-dependent protein kinase catalytic subunit alpha in complex with peptide inhibitor PKI alpha (6-25) [X-RAY DIFFRACTION]
Discovery of dihydrothieno- and dihydrofuropyrimidines as potent pan Akt inhibitors [X-RAY DIFFRACTION]
Crystal Structure of Arg280Ala mutant of Catalytic subunit of cAMP-dependent Protein Kinase [X-RAY DIFFRACTION]
Crystal Structure of Glu208Ala mutant of catalytic subunit of cAMP-dependent protein kinase [X-RAY DIFFRACTION]
>> 12 additional structures at PDB <<
Predicted Effect probably null
Transcript: ENSMUST00000028999
AA Change: E75*
SMART Domains Protein: ENSMUSP00000028999
Gene: ENSMUSG00000027499
AA Change: E75*

DomainStartEndE-ValueType
Pfam:PKI 2 70 1.3e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192468
SMART Domains Protein: ENSMUSP00000142120
Gene: ENSMUSG00000027499

DomainStartEndE-ValueType
Pfam:PKI 2 50 3.2e-29 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000193330
AA Change: E75*
SMART Domains Protein: ENSMUSP00000141466
Gene: ENSMUSG00000027499
AA Change: E75*

DomainStartEndE-ValueType
Pfam:PKI 2 75 1.2e-37 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the cAMP-dependent protein kinase (PKA) inhibitor family. This protein was demonstrated to interact with and inhibit the activities of both C alpha and C beta catalytic subunits of the PKA. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit decreased basal and isoproterenol-induced phosphoenolpyruvate carboxykinase expression in muscle, but are phenotypically normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
Apob C A 12: 8,047,883 (GRCm39) P941Q probably damaging Het
Armc9 T A 1: 86,127,638 (GRCm39) probably null Het
Arpc5l T C 2: 38,903,730 (GRCm39) probably benign Het
Atg2b C A 12: 105,592,621 (GRCm39) D1745Y probably damaging Het
Atp9a A G 2: 168,494,552 (GRCm39) V651A probably damaging Het
Ccnyl1 T C 1: 64,747,631 (GRCm39) I148T possibly damaging Het
Cfap95 T A 19: 23,630,017 (GRCm39) D25V unknown Het
Chrna6 A T 8: 27,903,682 (GRCm39) W17R possibly damaging Het
Cpne1 G A 2: 155,919,917 (GRCm39) H244Y probably damaging Het
Cpxm2 A G 7: 131,650,807 (GRCm39) Y618H possibly damaging Het
Csf1r T C 18: 61,243,473 (GRCm39) I163T probably benign Het
Ctdsp1 T C 1: 74,434,606 (GRCm39) probably benign Het
Ctsb T A 14: 63,370,806 (GRCm39) I6N probably benign Het
Dcbld1 A G 10: 52,160,244 (GRCm39) N44S probably damaging Het
Dnah11 C T 12: 117,976,112 (GRCm39) C2769Y probably benign Het
Efemp2 C A 19: 5,530,093 (GRCm39) Q187K probably damaging Het
Elavl3 A T 9: 21,947,612 (GRCm39) I109N probably damaging Het
Elovl5 G T 9: 77,890,066 (GRCm39) K292N probably benign Het
Epb41 G T 4: 131,731,105 (GRCm39) P1T probably damaging Het
Gm44865 G T 7: 108,165,007 (GRCm39) probably benign Het
Gnat2 C A 3: 108,007,368 (GRCm39) T262K probably damaging Het
Katnip T C 7: 125,451,174 (GRCm39) C1102R probably benign Het
Kmt2e A T 5: 23,702,540 (GRCm39) I951F probably damaging Het
Large2 T C 2: 92,197,927 (GRCm39) H258R probably damaging Het
Lnx1 G A 5: 74,846,420 (GRCm39) P10L probably benign Het
Lrp6 G A 6: 134,497,380 (GRCm39) S209L possibly damaging Het
Mc3r A G 2: 172,091,716 (GRCm39) I313V probably benign Het
Med1 T C 11: 98,051,859 (GRCm39) D468G possibly damaging Het
Mlxip T C 5: 123,584,014 (GRCm39) S526P probably benign Het
Myo15a T C 11: 60,400,357 (GRCm39) probably benign Het
Nedd1 T C 10: 92,525,503 (GRCm39) D602G possibly damaging Het
Nol7 C T 13: 43,554,769 (GRCm39) probably benign Het
Or8c10 T C 9: 38,279,364 (GRCm39) I174T possibly damaging Het
Piezo2 T C 18: 63,257,731 (GRCm39) D329G probably benign Het
Pramel26 A C 4: 143,538,330 (GRCm39) F214V possibly damaging Het
Ptpn14 A T 1: 189,571,754 (GRCm39) T282S probably damaging Het
Ptprg C T 14: 12,219,029 (GRCm38) P408S probably damaging Het
Rpa2 A G 4: 132,502,358 (GRCm39) I147V probably benign Het
Serpina12 T C 12: 103,997,397 (GRCm39) T375A possibly damaging Het
Serpinb11 T A 1: 107,307,546 (GRCm39) S326T probably damaging Het
Slc18a1 T C 8: 69,491,515 (GRCm39) T500A probably benign Het
Tapt1 A G 5: 44,350,529 (GRCm39) F247L possibly damaging Het
Trav8d-2 A G 14: 53,280,218 (GRCm39) I69M possibly damaging Het
Other mutations in Pkia
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0316:Pkia UTSW 3 7,502,499 (GRCm39) missense probably damaging 0.98
R5741:Pkia UTSW 3 7,507,105 (GRCm39) missense probably benign 0.02
Posted On 2016-08-02