Incidental Mutation 'R1792:Il20ra'
ID 201840
Institutional Source Beutler Lab
Gene Symbol Il20ra
Ensembl Gene ENSMUSG00000020007
Gene Name interleukin 20 receptor, alpha
Synonyms
MMRRC Submission 039822-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1792 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 19588318-19635801 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 19635384 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 542 (V542I)
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: V542I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020185
Gene: ENSMUSG00000020007
AA Change: V542I

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
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.4%
Validation Efficiency
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 C T 11: 110,074,870 (GRCm39) V1398I probably benign Het
Ackr3 A T 1: 90,142,620 (GRCm39) N360Y probably benign Het
Acr T G 15: 89,457,346 (GRCm39) M198R probably benign Het
Adamts14 A T 10: 61,054,277 (GRCm39) M585K probably benign Het
Adgrb3 A T 1: 25,267,552 (GRCm39) C853S probably damaging Het
Arhgef28 G T 13: 98,067,694 (GRCm39) S1410R probably benign Het
Asprv1 T A 6: 86,605,354 (GRCm39) F67I possibly damaging Het
Atp8b4 T A 2: 126,167,214 (GRCm39) Y1095F probably benign Het
Cadps A G 14: 12,449,802 (GRCm38) S1136P possibly damaging Het
Ccdc57 T C 11: 120,788,707 (GRCm39) Q380R possibly damaging Het
Cdc45 A T 16: 18,626,090 (GRCm39) D142E probably benign Het
Cs A T 10: 128,195,948 (GRCm39) N386Y possibly damaging Het
Dsc3 A T 18: 20,120,055 (GRCm39) V201E probably damaging Het
Dusp26 G T 8: 31,581,963 (GRCm39) R19L probably benign Het
Esyt3 C A 9: 99,240,169 (GRCm39) E92* probably null Het
Ext2 T C 2: 93,534,890 (GRCm39) N625D probably damaging Het
Flvcr2 A T 12: 85,793,929 (GRCm39) K102* probably null Het
Fmnl2 T A 2: 52,932,329 (GRCm39) S103T possibly damaging Het
Fmo4 T A 1: 162,621,859 (GRCm39) I451F probably benign Het
Gak A T 5: 108,733,397 (GRCm39) Y47* probably null Het
Gbp10 A T 5: 105,372,166 (GRCm39) L198Q probably damaging Het
Gm11559 T A 11: 99,755,755 (GRCm39) S135T unknown Het
Gm14496 A T 2: 181,637,946 (GRCm39) D340V probably benign Het
Grin2a T C 16: 9,810,259 (GRCm39) T47A possibly damaging Het
Gtf2ird1 A T 5: 134,395,790 (GRCm39) probably null Het
Herc4 T A 10: 63,081,680 (GRCm39) M1K probably null Het
Hirip3 T A 7: 126,461,792 (GRCm39) V29E probably damaging Het
Hs3st5 A G 10: 36,708,720 (GRCm39) D85G probably benign Het
Htt T A 5: 35,064,543 (GRCm39) S2981T probably damaging Het
Iho1 A C 9: 108,282,111 (GRCm39) S526A possibly damaging Het
Itgb2l C A 16: 96,226,282 (GRCm39) C603F probably damaging Het
Klhl41 A C 2: 69,501,146 (GRCm39) K202N probably benign Het
Lct G A 1: 128,255,679 (GRCm39) S121F possibly damaging Het
Lhx6 C T 2: 35,977,387 (GRCm39) G355D probably damaging Het
Limk2 A G 11: 3,308,236 (GRCm39) V121A probably benign Het
Med1 T G 11: 98,048,109 (GRCm39) K896Q probably damaging Het
Muc6 A G 7: 141,214,371 (GRCm39) F2789S probably benign Het
Nemf T A 12: 69,359,343 (GRCm39) Y997F probably damaging Het
Nrap A G 19: 56,367,590 (GRCm39) S296P probably benign Het
Nrxn1 T C 17: 90,896,252 (GRCm39) N961D probably damaging Het
Odad2 T C 18: 7,286,743 (GRCm39) T163A probably benign Het
Or1r1 A C 11: 73,874,673 (GRCm39) S254A probably benign Het
Or6c207 A T 10: 129,105,112 (GRCm39) F27I probably benign Het
Or6y1 T C 1: 174,276,303 (GRCm39) V38A probably benign Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pdk4 T A 6: 5,489,166 (GRCm39) H247L probably damaging Het
Pkd1l3 T A 8: 110,359,237 (GRCm39) V866E probably damaging Het
Pla2g4e G A 2: 119,998,955 (GRCm39) P803L probably damaging Het
Pnisr T C 4: 21,860,968 (GRCm39) V217A possibly damaging Het
Pole4 G A 6: 82,629,720 (GRCm39) P34L unknown Het
Pole4 G T 6: 82,629,721 (GRCm39) P34T unknown Het
Ptchd3 G A 11: 121,732,377 (GRCm39) W422* probably null Het
Rab1b C T 19: 5,150,513 (GRCm39) A167T probably benign Het
Rasal1 T C 5: 120,802,821 (GRCm39) M359T probably benign Het
Rexo4 T C 2: 26,850,248 (GRCm39) N310D probably benign Het
Rgma C T 7: 73,067,585 (GRCm39) T280M probably damaging Het
Rnaset2a A T 17: 8,364,408 (GRCm39) I43N probably damaging Het
Rtcb A T 10: 85,778,446 (GRCm39) V399E probably damaging Het
Scd4 T G 19: 44,326,013 (GRCm39) Y122* probably null Het
Sirt6 T C 10: 81,462,355 (GRCm39) I15V possibly damaging Het
Slamf8 A T 1: 172,415,526 (GRCm39) V104E possibly damaging Het
Slc12a4 A G 8: 106,678,475 (GRCm39) I285T possibly damaging Het
Slc25a13 G A 6: 6,115,104 (GRCm39) A207V possibly damaging Het
Slc6a21 T C 7: 44,930,155 (GRCm39) S185P probably benign Het
Smarcc2 A C 10: 128,299,740 (GRCm39) N135T probably damaging Het
Susd6 T C 12: 80,921,065 (GRCm39) S221P probably damaging Het
Syne1 C T 10: 4,990,975 (GRCm39) G8418D probably damaging Het
Tasor2 T C 13: 3,640,559 (GRCm39) K193E possibly damaging Het
Tbc1d7 C T 13: 43,318,853 (GRCm39) V95I probably benign Het
Tcerg1l T C 7: 137,963,595 (GRCm39) D225G probably benign Het
Tfip11 A T 5: 112,477,263 (GRCm39) I82F possibly damaging Het
Tmem41a C T 16: 21,755,731 (GRCm39) G192S probably null Het
Trrap G A 5: 144,790,396 (GRCm39) A3619T possibly damaging Het
Tspoap1 G A 11: 87,656,707 (GRCm39) probably null Het
Wfdc21 T C 11: 83,637,883 (GRCm39) S11P probably benign Het
Zc2hc1b A T 10: 13,044,474 (GRCm39) V63E probably 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
P0017:Il20ra UTSW 10 19,635,154 (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
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
Predicted Primers PCR Primer
(F):5'- TGGATTGGGACCCTCAAACTG -3'
(R):5'- CTCTAGGACTCTCTGTGGATTG -3'

Sequencing Primer
(F):5'- CTCAAACTGGCAGGCTGTGTATC -3'
(R):5'- ACTCTCTGTGGATTGGGAAGAAG -3'
Posted On 2014-06-23