Incidental Mutation 'IGL03038:Prkaca'
ID408800
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: 0.583) question?
Stock #IGL03038
Quality Score
Status
Chromosome8
Chromosomal Location83972993-83996443 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 83994951 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 300 (Q300K)
Ref Sequence ENSEMBL: ENSMUSP00000147256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005606] [ENSMUST00000095228] [ENSMUST00000211558]
Predicted Effect probably benign
Transcript: ENSMUST00000005606
AA Change: Q308K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000005606
Gene: ENSMUSG00000005469
AA Change: Q308K

DomainStartEndE-ValueType
S_TKc 44 298 2e-107 SMART
S_TK_X 299 344 3.7e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000095228
SMART Domains Protein: ENSMUSP00000092853
Gene: ENSMUSG00000079003

DomainStartEndE-ValueType
low complexity region 2 29 N/A INTRINSIC
low complexity region 100 230 N/A INTRINSIC
low complexity region 256 277 N/A INTRINSIC
low complexity region 278 301 N/A INTRINSIC
low complexity region 302 323 N/A INTRINSIC
low complexity region 402 423 N/A INTRINSIC
SAM 440 506 2.91e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209606
Predicted Effect probably benign
Transcript: ENSMUST00000210523
Predicted Effect probably benign
Transcript: ENSMUST00000211558
AA Change: Q300K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb T C 7: 131,428,456 Y111H probably damaging Het
Arhgef6 C T X: 57,245,606 V262I probably benign Het
Arsk C A 13: 76,065,513 probably benign Het
Ces1b T C 8: 93,067,052 E303G probably benign Het
Chst9 T C 18: 15,495,303 Q55R probably benign Het
Cntnap3 A T 13: 64,741,025 D1153E possibly damaging Het
D130043K22Rik A G 13: 24,879,619 E681G probably damaging Het
Fhad1 T C 4: 142,002,494 E66G probably benign Het
Flii T C 11: 60,724,832 T69A probably benign Het
Foxl1 A C 8: 121,128,419 E153A probably damaging Het
Gstm3 T C 3: 107,966,169 D162G possibly damaging Het
Gtpbp3 G A 8: 71,489,303 V96I possibly damaging Het
Insig2 G A 1: 121,319,674 T56I probably damaging Het
Kif13a A G 13: 46,772,838 L264P probably damaging Het
Lama3 T G 18: 12,419,250 C420G probably damaging Het
Lrp2 C T 2: 69,475,464 G2918S probably damaging Het
Lrrc8b T C 5: 105,481,492 L568P probably damaging Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Malrd1 G A 2: 16,127,967 D1900N unknown Het
Mastl C A 2: 23,140,615 probably benign Het
Med24 T G 11: 98,716,184 T276P possibly damaging Het
Naip1 A C 13: 100,437,333 Y239* probably null Het
Nhsl2 A G X: 102,078,885 K765E probably damaging Het
Npy A G 6: 49,823,608 N4S probably benign Het
Nsun2 A G 13: 69,619,584 D188G probably damaging Het
Olfr794 A G 10: 129,570,921 T89A probably benign Het
Pde1a C A 2: 79,887,946 probably benign Het
Pik3cb G A 9: 99,065,597 A509V probably damaging Het
Pou2f2 C T 7: 25,097,152 S315N probably damaging Het
Prdm2 A C 4: 143,134,001 S906R probably damaging Het
Prox2 T C 12: 85,095,264 D55G possibly damaging Het
Ryr3 T A 2: 112,668,120 T3612S possibly damaging Het
S1pr1 T A 3: 115,712,694 I84L possibly damaging Het
Slc47a1 C T 11: 61,353,092 V384M probably benign Het
Slc6a20b T C 9: 123,597,329 N497S possibly damaging Het
Spen C A 4: 141,538,239 R3L unknown Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Ttll6 T C 11: 96,151,960 F444S probably damaging Het
Vwce T A 19: 10,646,671 Y309N possibly damaging Het
Vwf T C 6: 125,604,157 L586P possibly damaging Het
Wdr35 T C 12: 8,974,185 probably benign 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
IGL03236:Prkaca APN 8 83990445 missense probably damaging 1.00
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
R7950:Prkaca UTSW 8 83995334 missense probably benign 0.00
R7970:Prkaca UTSW 8 83986895 missense probably benign 0.07
R8313:Prkaca UTSW 8 83990522 missense probably damaging 1.00
Posted On2016-08-02