Incidental Mutation 'IGL03236:Prkaca'
ID414066
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkaca
Ensembl Gene ENSMUSG00000005469
Gene Nameprotein kinase, cAMP dependent, catalytic, alpha
SynonymsPkaca, C alpha, PKA, Cs
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.544) question?
Stock #IGL03236
Quality Score
Status
Chromosome8
Chromosomal Location83972993-83996443 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 83990445 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 138 (F138Y)
Ref Sequence ENSEMBL: ENSMUSP00000147256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005606] [ENSMUST00000211558]
Predicted Effect probably damaging
Transcript: ENSMUST00000005606
AA Change: F146Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005606
Gene: ENSMUSG00000005469
AA Change: F146Y

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: F138Y

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430007A20Rik A G 4: 144,519,916 T11A probably benign Het
Abca17 A G 17: 24,326,476 probably benign Het
Aox2 G T 1: 58,309,997 E641* probably null Het
Arhgef10l G T 4: 140,611,360 D30E probably damaging Het
Arhgef37 A T 18: 61,523,826 I56N probably damaging Het
Cwf19l1 T C 19: 44,127,448 I181V probably benign Het
Dnaic2 A G 11: 114,757,249 probably benign Het
Elp2 A G 18: 24,622,243 probably benign Het
Epb41l4a G A 18: 33,810,219 S541L probably damaging Het
Ibsp A C 5: 104,306,005 N70H probably benign Het
Ikzf1 A G 11: 11,707,848 E35G probably damaging Het
Kdm5a T C 6: 120,438,988 V1623A probably damaging Het
Kpna7 A T 5: 144,985,694 V499E unknown Het
Krtap4-16 C A 11: 99,851,136 R146L unknown Het
Map2k5 T A 9: 63,286,392 probably benign Het
Mfn2 A G 4: 147,882,105 F543S probably damaging Het
Mical3 A G 6: 120,969,384 L1052P probably benign Het
Mycbp2 T C 14: 103,298,698 N272S probably damaging Het
Ndel1 A G 11: 68,842,150 Y87H probably benign Het
Ndnf G A 6: 65,696,172 V45M possibly damaging Het
Nr3c1 A G 18: 39,486,391 I281T probably benign Het
Ntm A G 9: 29,109,506 V139A probably benign Het
Olfr205 A C 16: 59,328,837 V224G probably damaging Het
Pkhd1l1 T G 15: 44,581,826 V3698G probably damaging Het
Plcb1 A G 2: 135,346,306 Y773C probably damaging Het
Qser1 T C 2: 104,786,532 T1312A probably benign Het
Slc47a2 T C 11: 61,313,679 E282G probably damaging Het
Smchd1 G A 17: 71,391,430 T1117I possibly damaging Het
Utp6 A G 11: 79,960,741 probably benign Het
Vmn1r66 T A 7: 10,275,063 K14N probably damaging Het
Vmn1r71 A T 7: 10,748,284 V93E probably benign Het
Zfp768 G A 7: 127,343,970 L329F possibly damaging Het
Other mutations in Prkaca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01832:Prkaca APN 8 83990737 missense probably damaging 1.00
IGL02011:Prkaca APN 8 83990936 missense probably damaging 1.00
IGL03022:Prkaca APN 8 83995347 missense possibly damaging 0.56
IGL03038:Prkaca APN 8 83994951 missense probably benign
R0013:Prkaca UTSW 8 83988303 missense possibly damaging 0.64
R0458:Prkaca UTSW 8 83995282 splice site probably benign
R1693:Prkaca UTSW 8 83981198 missense probably benign
R1827:Prkaca UTSW 8 83990987 critical splice donor site probably null
R1860:Prkaca UTSW 8 83981223 missense probably benign 0.11
R1955:Prkaca UTSW 8 83988317 missense probably damaging 0.97
R4084:Prkaca UTSW 8 83995310 missense probably damaging 1.00
R4770:Prkaca UTSW 8 83990870 missense probably benign 0.05
R7867:Prkaca UTSW 8 83995334 missense probably benign 0.00
R7887:Prkaca UTSW 8 83986895 missense probably benign 0.07
R8313:Prkaca UTSW 8 83990522 missense probably damaging 1.00
Posted On2016-08-02