Incidental Mutation 'IGL00579:Il13ra2'
ID 3085
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 # IGL00579
Quality Score
Status
Chromosome X
Chromosomal Location 146166472-146212188 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 146177386 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 146 (Y146H)
Ref Sequence ENSEMBL: ENSMUSP00000108446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033646] [ENSMUST00000112827]
AlphaFold O88786
Predicted Effect probably damaging
Transcript: ENSMUST00000033646
AA Change: Y146H

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033646
Gene: ENSMUSG00000031289
AA Change: Y146H

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 probably damaging
Transcript: ENSMUST00000112827
AA Change: Y146H

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108446
Gene: ENSMUSG00000031289
AA Change: Y146H

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf2 T C 5: 24,773,794 (GRCm39) E365G possibly damaging Het
Adamts12 T C 15: 11,152,100 (GRCm39) Y197H probably benign Het
Cept1 A T 3: 106,413,119 (GRCm39) V202E possibly damaging Het
Cfap53 A T 18: 74,438,611 (GRCm39) K263* probably null Het
Dennd3 T C 15: 73,412,691 (GRCm39) I451T possibly damaging Het
Dync2h1 A C 9: 7,035,728 (GRCm39) probably benign Het
Egf T A 3: 129,491,447 (GRCm39) H850L probably benign Het
Gm11595 T C 11: 99,662,868 (GRCm39) T271A unknown Het
Gorab T C 1: 163,222,256 (GRCm39) E142G probably damaging Het
Gpat4 A G 8: 23,672,791 (GRCm39) S20P probably damaging Het
Gpr83 T C 9: 14,771,897 (GRCm39) V23A probably benign Het
Kcnj16 C T 11: 110,916,034 (GRCm39) T232M probably benign Het
Mdfic A T 6: 15,741,073 (GRCm39) I61F possibly damaging Het
Mmp3 G T 9: 7,445,894 (GRCm39) probably benign Het
Olr1 C T 6: 129,470,486 (GRCm39) R227K probably benign Het
Otof T A 5: 30,556,666 (GRCm39) I257F possibly damaging Het
Oxsr1 T A 9: 119,088,277 (GRCm39) R43S probably damaging Het
Pacc1 T C 1: 191,060,405 (GRCm39) V21A unknown Het
Prkdc A G 16: 15,482,103 (GRCm39) D382G probably damaging Het
Slc35b2 G T 17: 45,875,886 (GRCm39) V81L probably damaging Het
Thumpd3 G A 6: 113,024,622 (GRCm39) R72H possibly damaging Het
Tsga10 G A 1: 37,874,534 (GRCm39) T117I probably damaging Het
Vps13a T A 19: 16,684,726 (GRCm39) T953S probably benign Het
Wdr62 A C 7: 29,967,320 (GRCm39) C311W probably damaging Het
Wdr74 A G 19: 8,716,830 (GRCm39) T247A possibly damaging Het
Zbtb26 A T 2: 37,326,454 (GRCm39) V194D possibly damaging Het
Zfp639 A T 3: 32,574,626 (GRCm39) E417V probably damaging Het
Other mutations in Il13ra2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02203:Il13ra2 APN X 146,166,669 (GRCm39) missense possibly damaging 0.68
Posted On 2012-04-20