Incidental Mutation 'R0013:Prkaca'

• ID: 32642
• Institutional Source: Beutler Lab
• Gene Symbol: Prkaca
• Ensembl Gene: ENSMUSG00000005469
• Gene Name: protein kinase, cAMP dependent, catalytic, alpha
• Synonyms: Pkaca, C alpha, PKA, Cs
• MMRRC Submission: 038308-MU
• Essential gene?: Probably essential (E-score: 0.808)
• Stock #: R0013 (G1)
• Quality Score: 225
• Status: Validated
• Chromosome: 8
• Chromosomal Location: 83972993-83996443 bp(+) (GRCm38)
• Type of Mutation: missense
• DNA Base Change (assembly): G to A at 83988303 bp (GRCm38)
• Zygosity: Heterozygous
• Amino Acid Change: Methionine to Isoleucine at position 119 (M119I)
• Ref Sequence: ENSEMBL: ENSMUSP00000005606
• Gene Model: predicted gene model for transcript(s): [ENSMUST00000005606] [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: M119I; PolyPhen 2 Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)
• SMART Domains: Protein: ENSMUSP00000005606; Gene: ENSMUSG00000005469; AA Change: M119I

Domain	Start	End	E-Value	Type
S_TKc	44	298	2e-107	SMART
S_TK_X	299	344	3.7e-10	SMART

• Predicted Effect: possibly damaging; Transcript: ENSMUST00000211558; AA Change: M111I; PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
• Meta Mutation Damage Score: 0.1029
• Coding Region Coverage:
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.8%
• Validation Efficiency: 94% (79/84)
• 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]
• Posted On: 2013-05-09

Predicted Primers

PCR Primer
(F):5'- GCTGTCACATCCCACACGATTTTG -3'
(R):5'- CACTTTCCATTTCCAAGCACACTGG -3'

Sequencing Primer
(F):5'- GCCTGTCTAGCAAATGATGACTG -3'
(R):5'- GCACACTGGACTCCTACATGTC -3'