Incidental Mutation 'IGL01832:Prkaca'
ID 154807
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 # IGL01832
Quality Score
Status
Chromosome 8
Chromosomal Location 84699622-84723072 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 84717366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 206 (K206N)
Ref Sequence ENSEMBL: ENSMUSP00000147256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005606] [ENSMUST00000211558]
AlphaFold P05132
Predicted Effect probably damaging
Transcript: ENSMUST00000005606
AA Change: K214N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000005606
Gene: ENSMUSG00000005469
AA Change: K214N

DomainStartEndE-ValueType
S_TKc 44 298 2e-107 SMART
S_TK_X 299 344 3.7e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000211558
AA Change: K206N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 G A 8: 77,985,758 (GRCm39) T681I probably benign Het
Atg4b T C 1: 93,713,626 (GRCm39) probably benign Het
Atp10b T A 11: 43,125,262 (GRCm39) M1076K probably damaging Het
Atp23 A T 10: 126,730,214 (GRCm39) N111K probably damaging Het
Atxn2 C A 5: 121,944,331 (GRCm39) Y72* probably null Het
C1qtnf12 A G 4: 156,050,323 (GRCm39) D220G probably damaging Het
C2cd3 A T 7: 100,076,421 (GRCm39) T1171S possibly damaging Het
Ccdc15 G A 9: 37,222,640 (GRCm39) R585W probably damaging Het
Cep152 A C 2: 125,460,414 (GRCm39) Y179* probably null Het
Cpa2 T C 6: 30,551,998 (GRCm39) S242P probably benign Het
Ctps2 G T X: 161,719,699 (GRCm39) probably benign Het
Cttnbp2nl A G 3: 104,918,544 (GRCm39) S99P probably damaging Het
Ddx20 A G 3: 105,586,327 (GRCm39) S673P probably damaging Het
Erbb4 T C 1: 68,293,725 (GRCm39) K722R possibly damaging Het
Ercc8 A G 13: 108,305,993 (GRCm39) T123A probably damaging Het
Ermard T C 17: 15,280,111 (GRCm39) V87A probably damaging Het
Fkbp8 A G 8: 70,984,195 (GRCm39) H182R probably benign Het
Gab2 T C 7: 96,953,445 (GRCm39) L606P probably damaging Het
Gls C T 1: 52,207,568 (GRCm39) probably null Het
Hook3 A T 8: 26,562,393 (GRCm39) M224K possibly damaging Het
Itga5 T A 15: 103,264,376 (GRCm39) K298* probably null Het
Itprid2 G A 2: 79,481,762 (GRCm39) V481M possibly damaging Het
Lrrc74a C A 12: 86,808,488 (GRCm39) T422K probably benign Het
Myh9 A C 15: 77,675,953 (GRCm39) D244E probably benign Het
Ndrg4 A G 8: 96,439,947 (GRCm39) E349G probably damaging Het
Or9m2 T A 2: 87,820,513 (GRCm39) D19E probably benign Het
Otop2 T C 11: 115,217,769 (GRCm39) S202P probably benign Het
Plppr2 C A 9: 21,854,742 (GRCm39) R138S possibly damaging Het
Ptpro C T 6: 137,370,666 (GRCm39) T589I possibly damaging Het
Ptprq A G 10: 107,401,700 (GRCm39) probably null Het
Slc16a5 T C 11: 115,355,827 (GRCm39) V96A probably benign Het
Tcerg1 A G 18: 42,707,620 (GRCm39) K1047E probably damaging Het
Tinag T C 9: 76,939,038 (GRCm39) K147E probably benign Het
Urgcp T C 11: 5,667,325 (GRCm39) T338A probably damaging Het
Wdr74 C T 19: 8,717,302 (GRCm39) R299C probably damaging Het
Zzef1 C T 11: 72,765,892 (GRCm39) S1473L probably damaging Het
Other mutations in Prkaca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02011:Prkaca APN 8 84,717,565 (GRCm39) missense probably damaging 1.00
IGL03022:Prkaca APN 8 84,721,976 (GRCm39) missense possibly damaging 0.56
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 2014-02-04