Incidental Mutation 'R8893:Prkaca'

• ID: 677837
• Institutional Source: Beutler Lab
• Gene Symbol: Prkaca
• Ensembl Gene: ENSMUSG00000005469
• Gene Name: protein kinase, cAMP dependent, catalytic, alpha
• Synonyms: PKA, C alpha, Cs, Pkaca
• MMRRC Submission: 068696-MU
• Essential gene?: Probably essential (E-score: 0.781)
• Stock #: R8893 (G1)
• Quality Score: 225.009
• Status: Validated
• Chromosome: 8
• Chromosomal Location: 84699622-84723072 bp(+) (GRCm39)
• Type of Mutation: missense
• DNA Base Change (assembly): A to G at 84717151 bp (GRCm39)
• Zygosity: Heterozygous
• Amino Acid Change: Asparagine to Aspartic acid at position 172 (N172D)
• 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: probably damaging; Transcript: ENSMUST00000005606; AA Change: N172D; PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
• SMART Domains: Protein: ENSMUSP00000005606; Gene: ENSMUSG00000005469; AA Change: N172D

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

• Predicted Effect: probably damaging; Transcript: ENSMUST00000211558; AA Change: N164D; PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
• Meta Mutation Damage Score: 0.9685
• Coding Region Coverage:
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
• Validation Efficiency: 98% (57/58)
• 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: 2021-08-02

Predicted Primers

PCR Primer
(F):5'- TGGGTACACAGACCCACATG -3'
(R):5'- TGAGGTGCCTACTTTGCTC -3'

Sequencing Primer
(F):5'- ACATGCTGGACCACTTGG -3'
(R):5'- ATAATCTCGGGGGCCAAGTACTC -3'