Incidental Mutation 'IGL01929:Il20ra'
ID 180366
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il20ra
Ensembl Gene ENSMUSG00000020007
Gene Name interleukin 20 receptor, alpha
Synonyms
Accession Numbers

Ncbi RefSeq: NM_172786.2; MGI:3605069
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01929
Quality Score
Status
Chromosome 10
Chromosomal Location 19712570-19760053 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 19759271 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 420 (L420R)
Ref Sequence ENSEMBL: ENSMUSP00000020185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020185] [ENSMUST00000217389]
AlphaFold Q6PHB0
Predicted Effect probably benign
Transcript: ENSMUST00000020185
AA Change: L420R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000020185
Gene: ENSMUSG00000020007
AA Change: L420R

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
Coding Region Coverage
Validation Efficiency
MGI Phenotype Strain: 5302406
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 G A 3: 89,344,138 P467S probably benign Het
Areg T C 5: 91,144,453 I204T probably benign Het
Dnah3 A T 7: 119,951,651 Y3137* probably null Het
Dnajc10 T G 2: 80,328,076 C270W probably damaging Het
Epc1 A G 18: 6,449,217 F427L possibly damaging Het
Fcgbp A T 7: 28,103,963 D1664V probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm4951 A G 18: 60,246,482 E363G probably benign Het
Gm6686 G A 17: 15,566,315 probably benign Het
Grik4 C A 9: 42,566,298 probably null Het
H2-Oa G A 17: 34,094,082 probably null Het
Kcnk2 A G 1: 189,340,030 S34P probably damaging Het
Klc4 A G 17: 46,644,247 probably null Het
Large1 T C 8: 72,859,275 Y401C probably damaging Het
Lrrc59 T C 11: 94,643,516 V300A possibly damaging Het
Myom2 T A 8: 15,117,698 D1094E probably damaging Het
Nfrkb T A 9: 31,419,873 I1230N possibly damaging Het
Olfr543 A G 7: 102,477,166 S235P possibly damaging Het
Prr14l T C 5: 32,828,243 T146A probably benign Het
Psmd5 A G 2: 34,863,466 V221A probably damaging Het
Ptchd4 A T 17: 42,503,322 T705S probably benign Het
Ptprm G A 17: 66,690,549 A1184V probably damaging Het
Rb1cc1 G T 1: 6,240,159 K260N possibly damaging Het
Rbm28 T A 6: 29,128,585 D46V possibly damaging Het
Sdk1 T C 5: 141,953,030 Y403H probably damaging Het
Slco3a1 A G 7: 74,318,605 probably benign Het
Slfn8 T A 11: 83,003,405 K803* probably null Het
Vmn2r82 A T 10: 79,378,711 D176V probably damaging Het
Vmn2r-ps130 A T 17: 23,076,877 I674F possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdr70 A T 15: 7,920,634 probably null Het
Xdh A T 17: 73,934,855 C150S probably damaging Het
Xpo5 G T 17: 46,202,929 M3I probably benign Het
Other mutations in Il20ra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01936:Il20ra APN 10 19755843 missense probably damaging 1.00
IGL01958:Il20ra APN 10 19759043 missense probably benign 0.39
IGL02109:Il20ra APN 10 19759505 missense possibly damaging 0.80
IGL02207:Il20ra APN 10 19751578 missense probably damaging 0.99
IGL02234:Il20ra APN 10 19749270 missense probably damaging 1.00
IGL02959:Il20ra APN 10 19759041 missense probably benign 0.10
IGL03010:Il20ra APN 10 19749212 missense probably damaging 1.00
P0017:Il20ra UTSW 10 19759406 missense probably damaging 1.00
R0518:Il20ra UTSW 10 19759640 missense probably damaging 1.00
R0521:Il20ra UTSW 10 19759640 missense probably damaging 1.00
R1436:Il20ra UTSW 10 19749252 missense probably damaging 1.00
R1714:Il20ra UTSW 10 19755828 missense probably damaging 0.98
R1792:Il20ra UTSW 10 19759636 missense probably damaging 0.99
R1852:Il20ra UTSW 10 19743019 missense probably damaging 1.00
R2097:Il20ra UTSW 10 19759463 missense probably damaging 1.00
R4559:Il20ra UTSW 10 19749284 missense probably damaging 0.99
R4970:Il20ra UTSW 10 19758943 missense possibly damaging 0.61
R5112:Il20ra UTSW 10 19758943 missense possibly damaging 0.61
R5267:Il20ra UTSW 10 19749359 missense probably damaging 0.99
R6543:Il20ra UTSW 10 19749323 missense probably damaging 1.00
R6755:Il20ra UTSW 10 19750794 missense probably benign 0.15
R6845:Il20ra UTSW 10 19759311 missense probably benign 0.06
R7014:Il20ra UTSW 10 19712710 missense unknown
R7190:Il20ra UTSW 10 19742941 missense probably damaging 0.99
R8134:Il20ra UTSW 10 19750704 missense probably damaging 0.99
R8955:Il20ra UTSW 10 19759412 missense possibly damaging 0.57
R9104:Il20ra UTSW 10 19759616 missense probably benign 0.21
R9439:Il20ra UTSW 10 19743003 missense probably benign 0.00
Posted On 2014-05-07