Incidental Mutation 'IGL02203:Il13ra2'
ID 284396
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il13ra2
Ensembl Gene ENSMUSG00000031289
Gene Name interleukin 13 receptor, alpha 2
Synonyms CD213a2
Accession Numbers
Essential gene? Not available question?
Stock # IGL02203
Quality Score
Status
Chromosome X
Chromosomal Location 146166472-146212188 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 146166669 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 367 (L367P)
Ref Sequence ENSEMBL: ENSMUSP00000108446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033646] [ENSMUST00000112827]
AlphaFold O88786
Predicted Effect possibly damaging
Transcript: ENSMUST00000033646
AA Change: L367P

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000033646
Gene: ENSMUSG00000031289
AA Change: L367P

DomainStartEndE-ValueType
SCOP:d1f42a3 25 121 2e-8 SMART
Blast:FN3 26 122 2e-26 BLAST
Pfam:IL6Ra-bind 133 229 4.3e-33 PFAM
SCOP:d1f42a3 231 324 2e-6 SMART
Blast:FN3 232 311 4e-23 BLAST
transmembrane domain 335 357 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000112827
AA Change: L367P

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108446
Gene: ENSMUSG00000031289
AA Change: L367P

DomainStartEndE-ValueType
SCOP:d1f42a3 25 121 2e-8 SMART
Blast:FN3 26 122 2e-26 BLAST
Pfam:IL6Ra-bind 133 229 2.1e-32 PFAM
SCOP:d1f42a3 231 324 2e-6 SMART
Blast:FN3 232 311 4e-23 BLAST
transmembrane domain 335 357 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a receptor protein that binds to interleukin 13 (IL-13) with very high affinity. The encoded protein acts as a decoy receptor, and does not elicit any signal upon the binding of IL-13. Mice lacking the encoded protein exhibit increased levels of serum immunoglobulins, immune-dependent production of interferon gamma and, increased bone marrow macrophage progenitor frequency. Macrophages lacking the encoded protein release less nitric oxide and IL-12 in response to lipopolysaccharide. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Null mice display a phenotype consistent with attenuated IL13 responsiveness, including abnormal serum protein concentrations, increased frequency of bone marrow macrophage progenitor cells, and abnormal response of tissue macrophage to LPS. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A C 3: 121,973,457 (GRCm39) D1095A probably benign Het
Acmsd T C 1: 127,666,342 (GRCm39) probably benign Het
Ap5m1 G A 14: 49,317,715 (GRCm39) G324D probably damaging Het
Api5 T G 2: 94,255,419 (GRCm39) N252T probably benign Het
Arhgap45 T A 10: 79,863,387 (GRCm39) C743* probably null Het
Clpb A G 7: 101,428,544 (GRCm39) T435A probably damaging Het
Csmd3 C T 15: 47,713,073 (GRCm39) probably null Het
Cyp3a11 T G 5: 145,805,976 (GRCm39) R130S probably damaging Het
Dennd4c A G 4: 86,721,173 (GRCm39) T612A probably benign Het
Dipk1a A G 5: 108,059,647 (GRCm39) L57S probably benign Het
Eng A G 2: 32,561,498 (GRCm39) I170V probably benign Het
Gfra2 T A 14: 71,204,524 (GRCm39) M74K possibly damaging Het
Gpr137c A G 14: 45,514,944 (GRCm39) T268A possibly damaging Het
Gramd2b T C 18: 56,612,026 (GRCm39) probably null Het
Insr T C 8: 3,205,817 (GRCm39) H1324R probably benign Het
Lgi3 A G 14: 70,771,958 (GRCm39) E215G possibly damaging Het
Mst1r A G 9: 107,790,348 (GRCm39) T654A possibly damaging Het
Mst1r A G 9: 107,785,068 (GRCm39) Y242C probably damaging Het
Myo16 A T 8: 10,620,132 (GRCm39) Q1561L possibly damaging Het
Obscn A C 11: 58,973,134 (GRCm39) M2222R probably damaging Het
Or10ak13 A T 4: 118,639,626 (GRCm39) V52D possibly damaging Het
Or13p10 A T 4: 118,523,379 (GRCm39) I222F probably benign Het
Or2ag1 A G 7: 106,313,837 (GRCm39) I17T probably benign Het
Or5ap2 T G 2: 85,680,432 (GRCm39) F212C probably damaging Het
Or8b50 A G 9: 38,518,719 (GRCm39) probably benign Het
Plch1 G A 3: 63,606,160 (GRCm39) P1239L possibly damaging Het
Ptprm A T 17: 67,260,118 (GRCm39) I499K probably damaging Het
Rabep2 G T 7: 126,039,566 (GRCm39) R331L possibly damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Sema7a A G 9: 57,864,889 (GRCm39) T397A probably benign Het
Sftpc A C 14: 70,759,309 (GRCm39) M124R probably damaging Het
Slc25a38 A G 9: 119,949,878 (GRCm39) Y198C probably damaging Het
Sppl2a A T 2: 126,746,861 (GRCm39) M489K possibly damaging Het
Swt1 T A 1: 151,246,377 (GRCm39) K849N probably benign Het
Ttc3 T A 16: 94,219,457 (GRCm39) probably benign Het
Vmn2r63 A G 7: 42,553,432 (GRCm39) V608A probably benign Het
Vwf A G 6: 125,619,369 (GRCm39) Y1349C probably damaging Het
Ybx3 A G 6: 131,345,371 (GRCm39) V265A probably benign Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in Il13ra2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00579:Il13ra2 APN X 146,177,386 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16