Incidental Mutation 'IGL02203:Il13ra2'
ID284396
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il13ra2
Ensembl Gene ENSMUSG00000031289
Gene Nameinterleukin 13 receptor, alpha 2
SynonymsCD213a2
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02203
Quality Score
Status
ChromosomeX
Chromosomal Location147383476-147429192 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 147383673 bp
ZygosityHeterozygous
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]
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: 122,179,808 D1095A probably benign Het
Acmsd T C 1: 127,738,605 probably benign Het
Ap5m1 G A 14: 49,080,258 G324D probably damaging Het
Api5 T G 2: 94,425,074 N252T probably benign Het
Arhgap45 T A 10: 80,027,553 C743* probably null Het
Clpb A G 7: 101,779,337 T435A probably damaging Het
Csmd3 C T 15: 47,849,677 probably null Het
Cyp3a11 T G 5: 145,869,166 R130S probably damaging Het
Dennd4c A G 4: 86,802,936 T612A probably benign Het
Eng A G 2: 32,671,486 I170V probably benign Het
Fam69a A G 5: 107,911,781 L57S probably benign Het
Gfra2 T A 14: 70,967,084 M74K possibly damaging Het
Gpr137c A G 14: 45,277,487 T268A possibly damaging Het
Gramd3 T C 18: 56,478,954 probably null Het
Insr T C 8: 3,155,817 H1324R probably benign Het
Lgi3 A G 14: 70,534,518 E215G possibly damaging Het
Mst1r A G 9: 107,907,869 Y242C probably damaging Het
Mst1r A G 9: 107,913,149 T654A possibly damaging Het
Myo16 A T 8: 10,570,132 Q1561L possibly damaging Het
Obscn A C 11: 59,082,308 M2222R probably damaging Het
Olfr1020 T G 2: 85,850,088 F212C probably damaging Het
Olfr1337 A T 4: 118,782,429 V52D possibly damaging Het
Olfr62 A T 4: 118,666,182 I222F probably benign Het
Olfr705 A G 7: 106,714,630 I17T probably benign Het
Olfr914 A G 9: 38,607,423 probably benign Het
Plch1 G A 3: 63,698,739 P1239L possibly damaging Het
Ptprm A T 17: 66,953,123 I499K probably damaging Het
Rabep2 G T 7: 126,440,394 R331L possibly damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Sema7a A G 9: 57,957,606 T397A probably benign Het
Sftpc A C 14: 70,521,869 M124R probably damaging Het
Slc25a38 A G 9: 120,120,812 Y198C probably damaging Het
Sppl2a A T 2: 126,904,941 M489K possibly damaging Het
Swt1 T A 1: 151,370,626 K849N probably benign Het
Ttc3 T A 16: 94,418,598 probably benign Het
Vmn2r63 A G 7: 42,904,008 V608A probably benign Het
Vwf A G 6: 125,642,406 Y1349C probably damaging Het
Ybx3 A G 6: 131,368,408 V265A probably benign Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Il13ra2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00579:Il13ra2 APN X 147394390 missense probably damaging 0.99
Posted On2015-04-16