Incidental Mutation 'IGL03038:Prkaca'
ID 408800
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 # IGL03038
Quality Score
Status
Chromosome 8
Chromosomal Location 84699622-84723072 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 84721580 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P05132
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: 131,030,185 (GRCm39) Y111H probably damaging Het
Arhgef6 C T X: 56,290,966 (GRCm39) V262I probably benign Het
Arsk C A 13: 76,213,632 (GRCm39) probably benign Het
Ces1b T C 8: 93,793,680 (GRCm39) E303G probably benign Het
Chst9 T C 18: 15,628,360 (GRCm39) Q55R probably benign Het
Cntnap3 A T 13: 64,888,839 (GRCm39) D1153E possibly damaging Het
D130043K22Rik A G 13: 25,063,602 (GRCm39) E681G probably damaging Het
Fhad1 T C 4: 141,729,805 (GRCm39) E66G probably benign Het
Flii T C 11: 60,615,658 (GRCm39) T69A probably benign Het
Foxl1 A C 8: 121,855,158 (GRCm39) E153A probably damaging Het
Gstm3 T C 3: 107,873,485 (GRCm39) D162G possibly damaging Het
Gtpbp3 G A 8: 71,941,947 (GRCm39) V96I possibly damaging Het
Insig2 G A 1: 121,247,403 (GRCm39) T56I probably damaging Het
Kif13a A G 13: 46,926,314 (GRCm39) L264P probably damaging Het
Lama3 T G 18: 12,552,307 (GRCm39) C420G probably damaging Het
Lrp2 C T 2: 69,305,808 (GRCm39) G2918S probably damaging Het
Lrrc8b T C 5: 105,629,358 (GRCm39) L568P probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Malrd1 G A 2: 16,132,778 (GRCm39) D1900N unknown Het
Mastl C A 2: 23,030,627 (GRCm39) probably benign Het
Med24 T G 11: 98,607,010 (GRCm39) T276P possibly damaging Het
Naip1 A C 13: 100,573,841 (GRCm39) Y239* probably null Het
Nhsl2 A G X: 101,122,491 (GRCm39) K765E probably damaging Het
Npy A G 6: 49,800,588 (GRCm39) N4S probably benign Het
Nsun2 A G 13: 69,767,703 (GRCm39) D188G probably damaging Het
Or6c88 A G 10: 129,406,790 (GRCm39) T89A probably benign Het
Pde1a C A 2: 79,718,290 (GRCm39) probably benign Het
Pik3cb G A 9: 98,947,650 (GRCm39) A509V probably damaging Het
Pou2f2 C T 7: 24,796,577 (GRCm39) S315N probably damaging Het
Prdm2 A C 4: 142,860,571 (GRCm39) S906R probably damaging Het
Prox2 T C 12: 85,142,038 (GRCm39) D55G possibly damaging Het
Ryr3 T A 2: 112,498,465 (GRCm39) T3612S possibly damaging Het
S1pr1 T A 3: 115,506,343 (GRCm39) I84L possibly damaging Het
Slc47a1 C T 11: 61,243,918 (GRCm39) V384M probably benign Het
Slc6a20b T C 9: 123,426,394 (GRCm39) N497S possibly damaging Het
Spen C A 4: 141,265,550 (GRCm39) R3L unknown Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Ttll6 T C 11: 96,042,786 (GRCm39) F444S probably damaging Het
Vwce T A 19: 10,624,035 (GRCm39) Y309N possibly damaging Het
Vwf T C 6: 125,581,120 (GRCm39) L586P possibly damaging Het
Wdr35 T C 12: 9,024,185 (GRCm39) probably benign Het
Other mutations in Prkaca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01832:Prkaca APN 8 84,717,366 (GRCm39) missense probably damaging 1.00
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
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 2016-08-02