Incidental Mutation 'IGL03010:Il20ra'
ID 407735
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 # IGL03010
Quality Score
Status
Chromosome 10
Chromosomal Location 19712570-19760053 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 19749212 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 80 (G80W)
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: G80W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020185
Gene: ENSMUSG00000020007
AA Change: G80W

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Adamts4 T C 1: 171,251,416 C202R probably damaging Het
Afap1l1 T C 18: 61,743,319 D409G probably benign Het
Atp6v1b2 T C 8: 69,105,882 I334T probably damaging Het
Btn2a2 A T 13: 23,486,205 Y119* probably null Het
Cct2 T C 10: 117,058,114 D245G probably damaging Het
Ercc2 A G 7: 19,391,566 K486E possibly damaging Het
Fam186b T C 15: 99,280,627 S273G possibly damaging Het
Fbxw24 T A 9: 109,623,610 I106L probably benign Het
Ghrhr T C 6: 55,384,757 I303T probably damaging Het
Habp2 T C 19: 56,311,223 probably null Het
Haus3 T A 5: 34,166,287 E326D probably benign Het
Hdac7 C T 15: 97,793,929 probably null Het
Hectd2 T A 19: 36,615,602 D722E probably benign Het
Jag1 T C 2: 137,093,198 probably benign Het
Lrp1b A G 2: 42,323,606 S65P possibly damaging Het
Lypd2 A G 15: 74,734,253 I12T probably benign Het
Nat2 T A 8: 67,502,012 L258Q probably damaging Het
Nwd1 T C 8: 72,688,060 probably benign Het
Olfr10 T A 11: 49,318,146 V200E probably damaging Het
Olfr206 A G 16: 59,344,772 probably benign Het
Olfr788 G T 10: 129,472,974 C94F probably damaging Het
Pcdh15 T A 10: 74,385,945 D692E probably damaging Het
Prkcz G T 4: 155,286,805 H134N probably damaging Het
Prmt8 T C 6: 127,729,535 T98A probably benign Het
Rps6kc1 C A 1: 190,911,606 E19* probably null Het
Rrp8 A G 7: 105,734,391 S223P probably benign Het
Sept10 G A 10: 59,170,955 probably benign Het
Serpinb7 T C 1: 107,452,011 probably benign Het
Spaca6 C A 17: 17,838,405 Q72K probably benign Het
Spag1 A G 15: 36,233,273 H712R probably benign Het
Spg11 C A 2: 122,088,320 A943S probably damaging Het
Tmem104 T C 11: 115,243,534 S298P probably benign Het
Ttn A G 2: 76,735,088 I28265T probably damaging Het
Usp33 G T 3: 152,368,596 V360F probably benign Het
Vmn2r113 A G 17: 22,956,064 T550A possibly damaging Het
Zscan4d A T 7: 11,163,143 V128D 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
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
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 2016-08-02