Incidental Mutation 'IGL02109:Il20ra'
ID 281150
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 # IGL02109
Quality Score
Status
Chromosome 10
Chromosomal Location 19712570-19760053 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 19759505 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 498 (G498D)
Ref Sequence ENSEMBL: ENSMUSP00000020185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020185] [ENSMUST00000217389]
AlphaFold Q6PHB0
Predicted Effect possibly damaging
Transcript: ENSMUST00000020185
AA Change: G498D

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000020185
Gene: ENSMUSG00000020007
AA Change: G498D

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank1 T A 8: 23,096,184 N427K probably damaging Het
Ano10 C T 9: 122,261,342 E302K probably damaging Het
Arl3 T A 19: 46,542,346 probably benign Het
Clec14a T A 12: 58,268,148 E229D probably benign Het
Ctbp1 T C 5: 33,266,968 D26G probably damaging Het
Flt3 G T 5: 147,350,681 H671N probably benign Het
Fras1 A G 5: 96,700,523 D1799G probably benign Het
Kcnu1 T G 8: 25,937,699 L348R possibly damaging Het
Lrpprc A T 17: 84,726,570 L999* probably null Het
Myt1 T G 2: 181,815,617 probably benign Het
N4bp2 C T 5: 65,798,134 T467M probably damaging Het
Nup98 T C 7: 102,183,486 T355A probably benign Het
Ocstamp A T 2: 165,397,336 V310E possibly damaging Het
Olfr1285 T G 2: 111,408,493 noncoding transcript Het
Olfr147 T C 9: 38,403,086 F71L possibly damaging Het
Plcb1 C A 2: 134,786,559 H9Q probably damaging Het
Plxna4 T A 6: 32,215,641 Q795L probably benign Het
Pms1 A G 1: 53,207,409 S324P probably damaging Het
Pnldc1 G T 17: 12,905,538 H143Q probably benign Het
Ppp1r12b A G 1: 134,872,805 probably null Het
Ryr3 A G 2: 112,949,157 F250L probably benign Het
Scgn T C 13: 23,953,965 D241G possibly damaging Het
St8sia4 T C 1: 95,660,892 I73V possibly damaging Het
Tle3 T A 9: 61,413,050 C595S probably damaging Het
Tmem209 T C 6: 30,497,945 Y117C probably damaging Het
Tshr T A 12: 91,537,992 I568N probably damaging Het
Ttll10 C T 4: 156,047,480 D22N probably benign Het
Ttn A T 2: 76,809,858 V13802E probably damaging Het
Other mutations in Il20ra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01929:Il20ra APN 10 19759271 missense probably benign 0.01
IGL01936:Il20ra APN 10 19755843 missense probably damaging 1.00
IGL01958:Il20ra APN 10 19759043 missense probably benign 0.39
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 2015-04-16