Incidental Mutation 'P0017:Il20ra'
ID 7718
Institutional Source Beutler Lab
Gene Symbol Il20ra
Ensembl Gene ENSMUSG00000020007
Gene Name interleukin 20 receptor, alpha
Synonyms
MMRRC Submission 038270-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # P0017 (G1)
Quality Score
Status Validated
Chromosome 10
Chromosomal Location 19588318-19635801 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 19635154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 465 (E465G)
Ref Sequence ENSEMBL: ENSMUSP00000020185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020185] [ENSMUST00000217389]
AlphaFold Q6PHB0
Predicted Effect probably damaging
Transcript: ENSMUST00000020185
AA Change: E465G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000020185
Gene: ENSMUSG00000020007
AA Change: E465G

DomainStartEndE-ValueType
Pfam:Tissue_fac 16 126 1.8e-33 PFAM
Pfam:Interfer-bind 138 243 4.6e-23 PFAM
transmembrane domain 255 277 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000217389
Meta Mutation Damage Score 0.0666 question?
Coding Region Coverage
  • 1x: 82.5%
  • 3x: 74.9%
  • 10x: 52.3%
  • 20x: 31.8%
Validation Efficiency 59% (51/87)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type II cytokine receptor family. The encoded protein is a subunit of the receptor for interleukin 20, a cytokine that may be involved in epidermal function. The interleukin 20 receptor is a heterodimeric complex consisting of the encoded protein and interleukin 20 receptor beta. This gene and interleukin 20 receptor beta are highly expressed in skin, and are upregulated in psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased bone mineral density, impaired osteoclast differentiation, and resistance to ovariectomized-inducced bone loss. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted(4)

Other mutations in this stock
Total: 6 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano4 A T 10: 88,817,052 (GRCm39) L591* probably null Het
Arhgap30 C T 1: 171,236,272 (GRCm39) P882L probably benign Het
C030017K20Rik G T 4: 155,547,574 (GRCm39) probably null Het
Crb1 T C 1: 139,176,678 (GRCm39) E435G possibly damaging Het
Fam193a G T 5: 34,597,807 (GRCm39) D535Y probably damaging Het
Hmcn1 T A 1: 150,596,440 (GRCm39) T1799S possibly damaging Het
Other mutations in Il20ra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01929:Il20ra APN 10 19,635,019 (GRCm39) missense probably benign 0.01
IGL01936:Il20ra APN 10 19,631,591 (GRCm39) missense probably damaging 1.00
IGL01958:Il20ra APN 10 19,634,791 (GRCm39) missense probably benign 0.39
IGL02109:Il20ra APN 10 19,635,253 (GRCm39) missense possibly damaging 0.80
IGL02207:Il20ra APN 10 19,627,326 (GRCm39) missense probably damaging 0.99
IGL02234:Il20ra APN 10 19,625,018 (GRCm39) missense probably damaging 1.00
IGL02959:Il20ra APN 10 19,634,789 (GRCm39) missense probably benign 0.10
IGL03010:Il20ra APN 10 19,624,960 (GRCm39) missense probably damaging 1.00
R0518:Il20ra UTSW 10 19,635,388 (GRCm39) missense probably damaging 1.00
R0521:Il20ra UTSW 10 19,635,388 (GRCm39) missense probably damaging 1.00
R1436:Il20ra UTSW 10 19,625,000 (GRCm39) missense probably damaging 1.00
R1714:Il20ra UTSW 10 19,631,576 (GRCm39) missense probably damaging 0.98
R1792:Il20ra UTSW 10 19,635,384 (GRCm39) missense probably damaging 0.99
R1852:Il20ra UTSW 10 19,618,767 (GRCm39) missense probably damaging 1.00
R2097:Il20ra UTSW 10 19,635,211 (GRCm39) missense probably damaging 1.00
R4559:Il20ra UTSW 10 19,625,032 (GRCm39) missense probably damaging 0.99
R4970:Il20ra UTSW 10 19,634,691 (GRCm39) missense possibly damaging 0.61
R5112:Il20ra UTSW 10 19,634,691 (GRCm39) missense possibly damaging 0.61
R5267:Il20ra UTSW 10 19,625,107 (GRCm39) missense probably damaging 0.99
R6543:Il20ra UTSW 10 19,625,071 (GRCm39) missense probably damaging 1.00
R6755:Il20ra UTSW 10 19,626,542 (GRCm39) missense probably benign 0.15
R6845:Il20ra UTSW 10 19,635,059 (GRCm39) missense probably benign 0.06
R7014:Il20ra UTSW 10 19,588,458 (GRCm39) missense unknown
R7190:Il20ra UTSW 10 19,618,689 (GRCm39) missense probably damaging 0.99
R8134:Il20ra UTSW 10 19,626,452 (GRCm39) missense probably damaging 0.99
R8955:Il20ra UTSW 10 19,635,160 (GRCm39) missense possibly damaging 0.57
R9104:Il20ra UTSW 10 19,635,364 (GRCm39) missense probably benign 0.21
R9439:Il20ra UTSW 10 19,618,751 (GRCm39) missense probably benign 0.00
Protein Function and Prediction

Il20ra is a alternative splicing production of the Il20r1 gene, which associates with Il20rb to form the Il20 receptor type I (IL-20-RI), a receptor that mediates the activities of IL-19 subfamily of cytokines  (1-3). Il20ra is a soluble protein that can directly associate with mesangial cells to facilitate the phosphorylation of AKT and C-Jun N-terminal kinase (JNK) (4).  It is proposed that IL-20ra stimulates the production of chemoattractants, renal fibrogenic factors and reactive oxygen species (ROS) by mesangial cells (4).  In a transgenic mouse line that expressed full-length mIl20ra with a His tag, Wei et al (2009) proposed that mIL-20R1a is involved in calcium deposits associated with the pathogenesis of renal stone formation (5).

Expression/Localization

The IL-20-RI receptor is expressed mainly in the skin, lung, various glands, and the reproductive organs (1-3).

Background

Il20ratm1.1Misc/tm1.1Misc; MGI:5302406

involves: C57BL/6

Mice homozygous for a knock-out allele exhibit increased bone mineral density, impaired osteoclast differentiation, and resistance to ovariectomized-induced bone loss (6).

References
Posted On 2012-10-29
Science Writer Anne Murray