|Institutional Source||Beutler Lab|
|Gene Name||interleukin 2 receptor, alpha chain|
|Synonyms||CD25, Ly-43, Il2r, IL-2R alpha chain|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0635 (G1)|
|Chromosomal Location||11642807-11693193 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 11680366 bp (GRCm38)|
|Amino Acid Change||Threonine to Methionine at position 171 (T171M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028111 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028111]|
AA Change: T171M
PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: T171M
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||99% (68/69)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2RB) chains produce a medium-affinity receptor. Normally an integral-membrane protein, soluble IL2RA has been isolated and determined to result from extracellular proteolyisis. Alternately-spliced IL2RA mRNAs have been isolated, but the significance of each is presently unknown. Mutations in this gene are associated with interleukin 2 receptor alpha deficiency.[provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit massive proliferation of polyclonal T and B cells as adults and develop autoimmune disorders including inflammatory bowel disease and hemolytic anemia with age. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Il2ra||
(F):5'- GGCATTTGCTGTGTCTTCCCAAAC -3'
(R):5'- ACCGGAGAGATCCTCATTTCCCTG -3'
(F):5'- TCCCAAACTTGCCTTCAAAATTC -3'
(R):5'- GTTAAGGGAACCTCAGCATTTCG -3'