|Institutional Source||Beutler Lab|
|Gene Name||interleukin 2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8805 (G1)|
|Chromosomal Location||37120523-37125959 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 37123133 bp (GRCm38)|
|Amino Acid Change||Threonine to Serine at position 85 (T85S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029275 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029275]|
AA Change: T85S
PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
AA Change: T85S
|Coding Region Coverage||
|Validation Efficiency||96% (70/73)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a secreted cytokine that is important for the proliferation of T and B lymphocytes. The receptor of this cytokine is a heterotrimeric protein complex whose gamma chain is also shared by interleukin 4 (IL4) and interleukin 7 (IL7). The expression of this gene in mature thymocytes is monoallelic, which represents an unusual regulatory mode for controlling the precise expression of a single gene. The targeted disruption of a similar gene in mice leads to ulcerative colitis-like disease, which suggests an essential role of this gene in the immune response to antigenic stimuli. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants develop adult onset autoimmune disease, with 50% mortality by 9 weeks due to hemolytic anemia. Survivors develop inflammatory bowl disease/colitis. Immune system dysregulation and CD4+ T-cell overproduction may be responsible. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Il2||
(F):5'- GGCTGACTAAATGCACAGAACC -3'
(R):5'- GTGGCCTAACAGTCAAGGTG -3'
(F):5'- GGCAAGCCACTTAAAAATGCATTTC -3'
(R):5'- CCCTTATGGTTGTGAGCTCTTGC -3'