|Institutional Source||Beutler Lab|
|Gene Name||interleukin 4 receptor, alpha|
|Synonyms||Il4r, IL-4 receptor alpha chain, CD124|
|Is this an essential gene?||Probably non essential (E-score: 0.072)|
|Stock #||R5865 (G1)|
|Chromosomal Location||125552120-125579474 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 125575176 bp (GRCm38)|
|Amino Acid Change||Serine to Proline at position 297 (S297P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033004 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033004] [ENSMUST00000206846]|
AA Change: S297P
PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
AA Change: S297P
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||91% (59/65)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha chain of the interleukin-4 receptor, a type I transmembrane protein that can bind interleukin 4 and interleukin 13 to regulate IgE production. The encoded protein also can bind interleukin 4 to promote differentiation of Th2 cells. A soluble form of the encoded protein can be produced by proteolysis of the membrane-bound protein, and this soluble form can inhibit IL4-mediated cell proliferation and IL5 upregulation by T-cells. Allelic variations in this gene have been associated with atopy, a condition that can manifest itself as allergic rhinitis, sinusitus, asthma, or eczema. Polymorphisms in this gene are also associated with resistance to human immunodeficiency virus type-1 infection. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]
PHENOTYPE: Nullizygous mice exhibit reduced T helper 2 cell response to N. brasiliensis infection. Homozygotes for a null allele also display severe susceptibility to S. mansoni infection, enhanced carcinogen-induced intestinal tumour initiation, and altered control of chronic Leishmania major infection. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Il4ra||
(F):5'- ATGCCCTTTCACTGGTGTG -3'
(R):5'- ACTCAGCCACCCATGATTGC -3'
(F):5'- GCAGAGGCTGAGACTCCCAG -3'
(R):5'- GAATTGATTGCCACCAGC -3'