Incidental Mutation 'IGL01518:Il2'
ID89382
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il2
Ensembl Gene ENSMUSG00000027720
Gene Nameinterleukin 2
SynonymsIL-2
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01518
Quality Score
Status
Chromosome3
Chromosomal Location37120523-37125959 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 37123007 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 127 (T127A)
Ref Sequence ENSEMBL: ENSMUSP00000029275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029275]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029275
AA Change: T127A

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029275
Gene: ENSMUSG00000027720
AA Change: T127A

DomainStartEndE-ValueType
IL2 1 168 4.75e-134 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000147773
SMART Domains Protein: ENSMUSP00000121015
Gene: ENSMUSG00000027719

DomainStartEndE-ValueType
Pfam:A_deamin 1 176 1.3e-49 PFAM
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 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
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447F04Rik A C X: 66,304,054 V16G unknown Het
4933427I04Rik A T 4: 123,860,701 E136V probably benign Het
Aadac A G 3: 60,035,899 D75G probably damaging Het
Arfgap1 T A 2: 180,972,725 S125T probably benign Het
Atxn2 G T 5: 121,810,979 A813S probably damaging Het
Cadps C A 14: 12,522,352 S604I probably damaging Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Col4a4 T A 1: 82,455,759 M1488L unknown Het
Fndc3c1 T C X: 106,431,423 N941S probably damaging Het
Fryl T C 5: 73,086,962 Y1172C possibly damaging Het
Gm1527 T C 3: 28,895,588 probably benign Het
Hsf2 T C 10: 57,512,134 L458P probably damaging Het
Inpp5e A G 2: 26,397,934 Y617H probably damaging Het
Isoc2b G A 7: 4,850,764 S137F probably damaging Het
Map2 C T 1: 66,425,331 P241S probably damaging Het
Mfsd6 C A 1: 52,709,322 R128L probably damaging Het
Mrnip A G 11: 50,197,635 T153A probably damaging Het
Olfr1269 A G 2: 90,118,971 F209S possibly damaging Het
Olfr26 A T 9: 38,855,799 M246L probably benign Het
Pi4ka T C 16: 17,280,735 N2022S probably benign Het
Scrt2 C A 2: 152,093,640 R238S probably damaging Het
St3gal6 T A 16: 58,484,775 D108V probably benign Het
Tmem132b C T 5: 125,778,791 T529M probably damaging Het
Trappc11 T C 8: 47,501,869 probably null Het
Tspyl1 T A 10: 34,283,199 S307T possibly damaging Het
Ush2a A G 1: 188,399,785 S735G probably benign Het
Wnk2 T C 13: 49,068,192 M1186V possibly damaging Het
Other mutations in Il2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02047:Il2 APN 3 37125851 missense probably benign 0.01
FR4304:Il2 UTSW 3 37125826 unclassified probably benign
FR4737:Il2 UTSW 3 37125764 unclassified probably benign
FR4737:Il2 UTSW 3 37125828 unclassified probably benign
FR4976:Il2 UTSW 3 37125829 unclassified probably benign
RF001:Il2 UTSW 3 37125762 unclassified probably benign
RF019:Il2 UTSW 3 37125817 unclassified probably benign
RF023:Il2 UTSW 3 37125820 unclassified probably benign
RF029:Il2 UTSW 3 37125827 unclassified probably benign
RF030:Il2 UTSW 3 37125827 unclassified probably benign
RF030:Il2 UTSW 3 37125842 unclassified probably benign
RF033:Il2 UTSW 3 37125764 unclassified probably benign
RF033:Il2 UTSW 3 37125842 unclassified probably benign
RF036:Il2 UTSW 3 37125827 unclassified probably benign
RF038:Il2 UTSW 3 37125821 nonsense probably null
RF039:Il2 UTSW 3 37125842 unclassified probably benign
RF041:Il2 UTSW 3 37125842 unclassified probably benign
RF043:Il2 UTSW 3 37125842 unclassified probably benign
RF051:Il2 UTSW 3 37125841 unclassified probably benign
RF058:Il2 UTSW 3 37125817 unclassified probably benign
RF058:Il2 UTSW 3 37125821 unclassified probably benign
RF061:Il2 UTSW 3 37125841 unclassified probably benign
RF064:Il2 UTSW 3 37125764 unclassified probably benign
Posted On2013-12-03