Incidental Mutation 'IGL00726:Il5ra'
ID11454
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il5ra
Ensembl Gene ENSMUSG00000005364
Gene Nameinterleukin 5 receptor, alpha
SynonymsCDw125, IL-5 receptor alpha chain, CD125, Il5r
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #IGL00726
Quality Score
Status
Chromosome6
Chromosomal Location106710357-106749037 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 106738489 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 128 (N128I)
Ref Sequence ENSEMBL: ENSMUSP00000144718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167925] [ENSMUST00000204659] [ENSMUST00000205004]
Predicted Effect probably damaging
Transcript: ENSMUST00000167925
AA Change: N128I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129781
Gene: ENSMUSG00000005364
AA Change: N128I

DomainStartEndE-ValueType
FN3 27 159 6.27e0 SMART
FN3 236 312 1.28e1 SMART
transmembrane domain 335 357 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000204659
AA Change: N128I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144718
Gene: ENSMUSG00000005364
AA Change: N128I

DomainStartEndE-ValueType
FN3 27 159 6.27e0 SMART
FN3 236 312 1.28e1 SMART
transmembrane domain 335 357 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000205004
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an interleukin 5 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL5 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL5. This protein has been found to interact with syndecan binding protein (syntenin), which is required for IL5 mediated activation of the transcription factor SOX4. Several alternatively spliced transcript variants encoding four distinct isoforms have been reported. [provided by RefSeq, Jul 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display a generally normal phenotype but with some immune system deficiencies. Mice homozygous for one knock-out allele exhibit increased metastasis of injected B16F10 melanoma cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cul9 T A 17: 46,528,096 N871I probably damaging Het
Dock4 T A 12: 40,790,068 probably benign Het
Eloa T C 4: 136,010,765 K295E probably benign Het
Fam185a T A 5: 21,480,342 N345K probably damaging Het
Gm4847 A T 1: 166,630,392 F464Y possibly damaging Het
Hmcn1 A G 1: 150,806,366 probably null Het
Hnrnpa1 A G 15: 103,242,437 D214G probably benign Het
Ppp1r3a A G 6: 14,717,852 V1021A probably benign Het
Tnik A G 3: 28,532,898 E106G probably damaging Het
Ttn T G 2: 76,734,725 D20059A probably damaging Het
Zfp276 T C 8: 123,258,337 S345P probably benign Het
Other mutations in Il5ra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00715:Il5ra APN 6 106712474 splice site probably benign
IGL01095:Il5ra APN 6 106742644 intron probably benign
IGL01562:Il5ra APN 6 106731904 missense probably benign 0.00
IGL01569:Il5ra APN 6 106731833 start codon destroyed probably null
IGL02346:Il5ra APN 6 106742658 missense probably benign 0.02
IGL02573:Il5ra APN 6 106716751 missense possibly damaging 0.93
IGL02659:Il5ra APN 6 106742683 missense possibly damaging 0.49
R0037:Il5ra UTSW 6 106742686 missense probably damaging 1.00
R0037:Il5ra UTSW 6 106742686 missense probably damaging 1.00
R0294:Il5ra UTSW 6 106712401 missense probably benign 0.41
R0463:Il5ra UTSW 6 106731890 missense probably damaging 0.99
R0478:Il5ra UTSW 6 106738462 missense probably benign
R0597:Il5ra UTSW 6 106744335 start codon destroyed probably null 0.99
R1526:Il5ra UTSW 6 106735820 missense possibly damaging 0.49
R1695:Il5ra UTSW 6 106738374 nonsense probably null
R1888:Il5ra UTSW 6 106731913 missense probably damaging 1.00
R1888:Il5ra UTSW 6 106731913 missense probably damaging 1.00
R2176:Il5ra UTSW 6 106738272 missense probably benign
R2207:Il5ra UTSW 6 106712441 nonsense probably null
R2973:Il5ra UTSW 6 106741235 missense probably benign 0.08
R4546:Il5ra UTSW 6 106738498 nonsense probably null
R4842:Il5ra UTSW 6 106738375 missense probably damaging 1.00
R4851:Il5ra UTSW 6 106738471 missense probably benign 0.06
R4911:Il5ra UTSW 6 106715668 missense probably damaging 1.00
R4936:Il5ra UTSW 6 106738162 missense possibly damaging 0.90
R5297:Il5ra UTSW 6 106738134 missense probably benign 0.09
R6035:Il5ra UTSW 6 106741265 missense probably damaging 1.00
R6035:Il5ra UTSW 6 106741265 missense probably damaging 1.00
Posted On2012-12-06