Incidental Mutation 'IGL02047:Il2'
ID 184981
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il2
Ensembl Gene ENSMUSG00000027720
Gene Name interleukin 2
Synonyms IL-2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02047
Quality Score
Status
Chromosome 3
Chromosomal Location 37174862-37180103 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37180000 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 19 (N19S)
Ref Sequence ENSEMBL: ENSMUSP00000029275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029275]
AlphaFold P04351
Predicted Effect probably benign
Transcript: ENSMUST00000029275
AA Change: N19S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000029275
Gene: ENSMUSG00000027720
AA Change: N19S

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730049H05Rik G T 6: 92,808,909 (GRCm39) probably benign Het
Ank3 A G 10: 69,728,324 (GRCm39) N681S possibly damaging Het
Arpp19 T G 9: 74,964,058 (GRCm39) S137A probably damaging Het
Bmp2 T C 2: 133,402,896 (GRCm39) L149P probably damaging Het
Bpifb1 T C 2: 154,044,536 (GRCm39) M1T probably null Het
Btbd7 T C 12: 102,760,038 (GRCm39) S637G probably benign Het
Cyp51 T A 5: 4,149,244 (GRCm39) H211L possibly damaging Het
Cyth1 C A 11: 118,059,958 (GRCm39) Q333H probably damaging Het
Dennd5a G A 7: 109,533,991 (GRCm39) T67M possibly damaging Het
Dse A T 10: 34,038,841 (GRCm39) Y51* probably null Het
Dynlt3 A T X: 9,522,665 (GRCm39) Y76* probably null Het
Fabp12 T C 3: 10,312,778 (GRCm39) probably benign Het
Galr1 A T 18: 82,424,118 (GRCm39) L53Q probably damaging Het
Igkv4-70 A T 6: 69,244,911 (GRCm39) D103E probably damaging Het
Jhy T C 9: 40,828,476 (GRCm39) I477V probably benign Het
Kcnk4 A G 19: 6,903,626 (GRCm39) S308P probably benign Het
Lipo3 A T 19: 33,534,562 (GRCm39) I299K probably benign Het
Mark3 T A 12: 111,584,797 (GRCm39) I131N probably damaging Het
Msr1 A G 8: 40,077,001 (GRCm39) V137A probably benign Het
Nf1 T A 11: 79,316,361 (GRCm39) V482E probably benign Het
Pcsk1 T C 13: 75,246,108 (GRCm39) V162A probably benign Het
Phf8-ps C T 17: 33,286,275 (GRCm39) V176M probably damaging Het
Plekhb1 A G 7: 100,304,506 (GRCm39) V47A probably damaging Het
R3hcc1l G A 19: 42,552,258 (GRCm39) M418I probably benign Het
Slc24a4 T C 12: 102,220,882 (GRCm39) F438L probably damaging Het
Slc38a5 G T X: 8,139,879 (GRCm39) V127L possibly damaging Het
Szt2 A G 4: 118,233,834 (GRCm39) probably benign Het
Tdh A T 14: 63,734,407 (GRCm39) H80Q probably benign Het
Tshz3 A C 7: 36,469,893 (GRCm39) K627N probably damaging Het
Usp28 C T 9: 48,946,941 (GRCm39) P791S probably damaging Het
Wdr81 A G 11: 75,336,332 (GRCm39) Y1686H probably damaging Het
Xpot G T 10: 121,437,267 (GRCm39) probably benign Het
Zfand4 G A 6: 116,291,889 (GRCm39) G627R probably damaging Het
Other mutations in Il2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01518:Il2 APN 3 37,177,156 (GRCm39) missense possibly damaging 0.64
FR4304:Il2 UTSW 3 37,179,975 (GRCm39) unclassified probably benign
FR4737:Il2 UTSW 3 37,179,977 (GRCm39) unclassified probably benign
FR4737:Il2 UTSW 3 37,179,913 (GRCm39) unclassified probably benign
FR4976:Il2 UTSW 3 37,179,978 (GRCm39) unclassified probably benign
R8805:Il2 UTSW 3 37,177,282 (GRCm39) missense possibly damaging 0.78
R9287:Il2 UTSW 3 37,179,988 (GRCm39) missense probably damaging 0.99
RF001:Il2 UTSW 3 37,179,911 (GRCm39) unclassified probably benign
RF023:Il2 UTSW 3 37,179,969 (GRCm39) unclassified probably benign
RF029:Il2 UTSW 3 37,179,976 (GRCm39) unclassified probably benign
RF030:Il2 UTSW 3 37,179,991 (GRCm39) unclassified probably benign
RF030:Il2 UTSW 3 37,179,976 (GRCm39) unclassified probably benign
RF033:Il2 UTSW 3 37,179,991 (GRCm39) unclassified probably benign
RF033:Il2 UTSW 3 37,179,913 (GRCm39) unclassified probably benign
RF036:Il2 UTSW 3 37,179,976 (GRCm39) unclassified probably benign
RF038:Il2 UTSW 3 37,179,970 (GRCm39) nonsense probably null
RF039:Il2 UTSW 3 37,179,991 (GRCm39) unclassified probably benign
RF041:Il2 UTSW 3 37,179,991 (GRCm39) unclassified probably benign
RF043:Il2 UTSW 3 37,179,991 (GRCm39) unclassified probably benign
RF051:Il2 UTSW 3 37,179,990 (GRCm39) unclassified probably benign
RF058:Il2 UTSW 3 37,179,970 (GRCm39) unclassified probably benign
RF058:Il2 UTSW 3 37,179,966 (GRCm39) unclassified probably benign
RF061:Il2 UTSW 3 37,179,990 (GRCm39) unclassified probably benign
RF064:Il2 UTSW 3 37,179,913 (GRCm39) unclassified probably benign
Posted On 2014-05-07