Incidental Mutation 'IGL02108:Prkar1a'
ID 280010
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkar1a
Ensembl Gene ENSMUSG00000020612
Gene Name protein kinase, cAMP dependent regulatory, type I, alpha
Synonyms Tse-1, 1300018C22Rik, Tse1, RIalpha
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02108
Quality Score
Status
Chromosome 11
Chromosomal Location 109540231-109560482 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 109558351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 357 (R357C)
Ref Sequence ENSEMBL: ENSMUSP00000102288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049527] [ENSMUST00000106677] [ENSMUST00000155559]
AlphaFold Q9DBC7
Predicted Effect probably damaging
Transcript: ENSMUST00000049527
AA Change: R357C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056500
Gene: ENSMUSG00000020612
AA Change: R357C

DomainStartEndE-ValueType
low complexity region 9 20 N/A INTRINSIC
RIIa 25 62 7.54e-15 SMART
cNMP 137 253 2.99e-32 SMART
cNMP 255 374 1.74e-33 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106677
AA Change: R357C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102288
Gene: ENSMUSG00000020612
AA Change: R357C

DomainStartEndE-ValueType
low complexity region 9 20 N/A INTRINSIC
RIIa 25 62 7.54e-15 SMART
cNMP 137 253 2.99e-32 SMART
cNMP 255 374 1.74e-33 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155532
Predicted Effect probably benign
Transcript: ENSMUST00000155559
SMART Domains Protein: ENSMUSP00000116687
Gene: ENSMUSG00000020614

DomainStartEndE-ValueType
transmembrane domain 9 28 N/A INTRINSIC
low complexity region 50 61 N/A INTRINSIC
Pfam:DUF1193 305 525 3.2e-103 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The encoded protein is a regulatory subunit of the cAMP-dependent protein kinase (PKA) complex, which is responsible for transducing most of the cAMP signals in eukaryotic cells. The inactive PKA complex contains two regulatory and two catalytic subunits. Binding of cAMP dissociates the complex, allowing monomeric catalytic subunits to phosphorylate cytosolic proteins or induce gene expression in the nucleus. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality during organogenesis due to developmental patterning defects. Mice heterozygous for a null allele exhibit background sensitive infertility and increased tumor incidence. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T C 8: 56,325,346 (GRCm39) I369M probably damaging Het
Aff1 T G 5: 103,958,975 (GRCm39) probably null Het
Arid1a G T 4: 133,407,827 (GRCm39) P2227T unknown Het
Atp12a A T 14: 56,621,525 (GRCm39) D720V possibly damaging Het
Auh T C 13: 53,043,133 (GRCm39) probably benign Het
Bptf C A 11: 106,965,814 (GRCm39) V1012L probably benign Het
Cbr1 T C 16: 93,407,087 (GRCm39) F268L probably benign Het
Ccdc190 A G 1: 169,761,555 (GRCm39) D219G probably damaging Het
Ccnb1 C T 13: 100,917,665 (GRCm39) probably null Het
Cdh19 G T 1: 110,817,461 (GRCm39) S760R probably benign Het
Cecr2 G A 6: 120,739,519 (GRCm39) probably null Het
Chid1 A T 7: 141,112,841 (GRCm39) M1K probably null Het
Dzank1 T C 2: 144,348,143 (GRCm39) T208A probably benign Het
Ecm2 T A 13: 49,671,920 (GRCm39) Y140* probably null Het
Enox2 A G X: 48,102,393 (GRCm39) L533S possibly damaging Het
Fntb A G 12: 76,934,631 (GRCm39) E167G possibly damaging Het
Gpihbp1 T C 15: 75,469,461 (GRCm39) V92A probably benign Het
Grsf1 C T 5: 88,813,762 (GRCm39) R329Q probably benign Het
Gtpbp4 T A 13: 9,035,249 (GRCm39) D370V probably benign Het
H2ac4 T C 13: 23,935,207 (GRCm39) V31A probably benign Het
Klhl14 T A 18: 21,690,977 (GRCm39) Y491F probably damaging Het
Lamb3 A T 1: 193,014,530 (GRCm39) Q563L probably damaging Het
Lcn2 A T 2: 32,277,617 (GRCm39) L124Q probably damaging Het
Mbl1 T C 14: 40,875,608 (GRCm39) S21P possibly damaging Het
Myrip G A 9: 120,296,631 (GRCm39) probably null Het
Nmur2 T C 11: 55,931,190 (GRCm39) T174A probably benign Het
Odf1 C A 15: 38,226,623 (GRCm39) Y174* probably null Het
Optn A G 2: 5,036,084 (GRCm39) V466A possibly damaging Het
Or5m12 A T 2: 85,734,494 (GRCm39) D301E possibly damaging Het
Or8b9 T A 9: 37,766,234 (GRCm39) V40E possibly damaging Het
Or8g54 A T 9: 39,706,808 (GRCm39) I46F probably damaging Het
Pde9a G A 17: 31,680,667 (GRCm39) S316N probably benign Het
Phf3 A T 1: 30,869,032 (GRCm39) I672K probably damaging Het
Pklr A T 3: 89,044,710 (GRCm39) I63F probably damaging Het
Plet1 T C 9: 50,410,387 (GRCm39) probably benign Het
Pp2d1 T A 17: 53,822,433 (GRCm39) D211V probably damaging Het
Ppp6r3 A T 19: 3,542,494 (GRCm39) W384R probably damaging Het
Prdm11 T C 2: 92,806,048 (GRCm39) I301V probably damaging Het
Ptchd1 T C X: 154,356,548 (GRCm39) T886A probably damaging Het
Ptpre A T 7: 135,260,831 (GRCm39) E156V possibly damaging Het
Ptprq T C 10: 107,482,478 (GRCm39) T1032A probably damaging Het
Rras2 A G 7: 113,659,623 (GRCm39) I47T probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Sh3rf3 T A 10: 58,971,650 (GRCm39) V826E probably damaging Het
Tmem127 T A 2: 127,099,026 (GRCm39) S132T probably damaging Het
Tnrc6c C A 11: 117,612,025 (GRCm39) P221Q probably benign Het
Tstd3 A T 4: 21,759,366 (GRCm39) probably benign Het
Usp46 T G 5: 74,189,867 (GRCm39) T55P probably damaging Het
Other mutations in Prkar1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:Prkar1a APN 11 109,551,877 (GRCm39) missense probably benign 0.25
IGL02227:Prkar1a APN 11 109,551,001 (GRCm39) splice site probably benign
IGL03008:Prkar1a APN 11 109,544,690 (GRCm39) missense probably damaging 0.99
R3900:Prkar1a UTSW 11 109,551,901 (GRCm39) missense probably benign 0.29
R5454:Prkar1a UTSW 11 109,550,886 (GRCm39) missense probably benign 0.01
R7745:Prkar1a UTSW 11 109,544,673 (GRCm39) nonsense probably null
R8921:Prkar1a UTSW 11 109,556,744 (GRCm39) missense probably benign 0.02
R9789:Prkar1a UTSW 11 109,556,778 (GRCm39) missense probably damaging 1.00
Z1176:Prkar1a UTSW 11 109,550,839 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16