Incidental Mutation 'RF029:Il2'
ID 604266
Institutional Source Beutler Lab
Gene Symbol Il2
Ensembl Gene ENSMUSG00000027720
Gene Name interleukin 2
Synonyms IL-2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # RF029 (G1)
Quality Score 217.468
Status Not validated
Chromosome 3
Chromosomal Location 37120523-37125959 bp(-) (GRCm38)
Type of Mutation unclassified
DNA Base Change (assembly) GTGG to GTGGGGCTTGAACTGG at 37125827 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000029275]
AlphaFold P04351
Predicted Effect probably benign
Transcript: ENSMUST00000029275
SMART Domains Protein: ENSMUSP00000029275
Gene: ENSMUSG00000027720

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
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.2%
  • 20x: 98.3%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430401F13Rik GGTGGCCAG GGTGGCCAGCAAAAACAGAAAGGAAAAAGTGGCCAG 6: 131,552,895 (GRCm38) probably benign Het
Abca17 T TCCCTC 17: 24,287,727 (GRCm38) probably benign Het
Amot GGAGCAGCAA G X: 145,450,988 (GRCm38) probably benign Het
C1s1 CCCATGGCTC CC 6: 124,541,351 (GRCm38) probably null Het
Cacna1a CCA CCAACA 8: 84,638,724 (GRCm38) probably benign Het
Ccdc170 ACC ACCGCC 10: 4,561,026 (GRCm38) probably benign Het
Cyb5r4 CAGA CAGAGACACTGACCAGGGATGTGATAGA 9: 87,040,430 (GRCm38) probably benign Het
Cyb5r4 CCAGGGA CCAGGGATGTGACAGACACACTGCACAGGGA 9: 87,040,442 (GRCm38) probably benign Het
Defb22 GCGGCA GCGGCAGAGCTGGCCTTTGCGGCA 2: 152,485,833 (GRCm38) probably benign Het
Dnmt1 CGGAGCACAGTTCCTACCTCGTT CGGAGCACAGTTCCTACCTCGTTTTGGGGGAGGAGCACAGTTCCTACCTCGTT 9: 20,910,123 (GRCm38) probably null Het
Eed C A 7: 89,955,032 (GRCm38) A411S probably benign Het
Exd2 CCACAGC CC 12: 80,475,946 (GRCm38) probably null Het
Fam171b GCAGC GCAGCATCAGC 2: 83,812,892 (GRCm38) probably benign Het
Fbrsl1 GCGTGTGCTGGT GCGTGTGCTGGTTCGTGTGCTGGT 5: 110,378,139 (GRCm38) probably benign Het
Fsip2 TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA TAGATGTGAAACTCTTAGAGGTAAGA 2: 82,994,008 (GRCm38) probably null Het
Gabre GGCTC GGCTCCTGCTC X: 72,270,059 (GRCm38) probably benign Het
Gm47955 G GTTGTGGCTT 1: 82,960,527 (GRCm38) probably benign Het
Gm572 TGGGGGGGGGGGG TGGGGG 4: 148,671,393 (GRCm38) probably null Het
Hic1 CGGGGGGGGGG CGGGGGGG 11: 75,169,442 (GRCm38) probably benign Het
Ifi208 AGATG AG 1: 173,677,696 (GRCm38) probably benign Het
Irag2 TG TGAGCACATGG 6: 145,173,790 (GRCm38) probably benign Het
Krtap28-10 CACAGCCACAGCCAC CACAGCCACAGCCACAACAGCCACAGCCAC 1: 83,042,270 (GRCm38) probably benign Het
Lkaaear1 GCTCCAGCTCCAGCTCCAGCTCCA GCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA 2: 181,697,579 (GRCm38) probably benign Het
Lkaaear1 CCAGCTCCAGCT CCAGCTCCAGCTACAGCTCCAGCT 2: 181,697,588 (GRCm38) probably benign Het
Nusap1 TGAGGAGCAAGCTGAGA TGAGGAGCAAGCTGAGATACACGTTAGCTGGGAGGAGCAAGCTGAGA 2: 119,627,594 (GRCm38) probably benign Het
Nusap1 CTGAGA CTGAGATACACGTTAGCAGTGAGGAGCAAGATGAGA 2: 119,627,605 (GRCm38) probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 109,624,195 (GRCm38) probably benign Het
Pnma8a CAACATC CAACATCTCATGATGCACCTGCTTAAACATC 7: 16,961,444 (GRCm38) probably null Het
Polr1has CG CCACCACCACCACCCCCCCCAGG 17: 36,965,071 (GRCm38) probably benign Het
Rasa2 CGC CGCAGC 9: 96,631,467 (GRCm38) probably benign Het
Rbm12 TATTGCGGGACCAGGTATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC 2: 156,096,095 (GRCm38) probably benign Het
Reep1 CGCCA CGCCAGCCA 6: 71,707,966 (GRCm38) probably null Het
Tcof1 CAG CAGAAG 18: 60,835,735 (GRCm38) probably benign Het
Tcof1 AGC AGCGGC 18: 60,835,745 (GRCm38) probably benign Het
Trappc9 GCTGCTGCT GCTGCTGCTGCTGCTTCTGCTGCT 15: 72,801,323 (GRCm38) probably benign Het
Zfhx3 CAGCAACAG CAGCAACAGAAGCAACAG 8: 108,956,092 (GRCm38) probably benign Het
Other mutations in Il2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01518:Il2 APN 3 37,123,007 (GRCm38) missense possibly damaging 0.64
IGL02047:Il2 APN 3 37,125,851 (GRCm38) missense probably benign 0.01
FR4304:Il2 UTSW 3 37,125,826 (GRCm38) unclassified probably benign
FR4737:Il2 UTSW 3 37,125,828 (GRCm38) unclassified probably benign
FR4737:Il2 UTSW 3 37,125,764 (GRCm38) unclassified probably benign
FR4976:Il2 UTSW 3 37,125,829 (GRCm38) unclassified probably benign
R8805:Il2 UTSW 3 37,123,133 (GRCm38) missense possibly damaging 0.78
R9287:Il2 UTSW 3 37,125,839 (GRCm38) missense probably damaging 0.99
RF001:Il2 UTSW 3 37,125,762 (GRCm38) unclassified probably benign
RF023:Il2 UTSW 3 37,125,820 (GRCm38) unclassified probably benign
RF030:Il2 UTSW 3 37,125,842 (GRCm38) unclassified probably benign
RF030:Il2 UTSW 3 37,125,827 (GRCm38) unclassified probably benign
RF033:Il2 UTSW 3 37,125,842 (GRCm38) unclassified probably benign
RF033:Il2 UTSW 3 37,125,764 (GRCm38) unclassified probably benign
RF036:Il2 UTSW 3 37,125,827 (GRCm38) unclassified probably benign
RF038:Il2 UTSW 3 37,125,821 (GRCm38) nonsense probably null
RF039:Il2 UTSW 3 37,125,842 (GRCm38) unclassified probably benign
RF041:Il2 UTSW 3 37,125,842 (GRCm38) unclassified probably benign
RF043:Il2 UTSW 3 37,125,842 (GRCm38) unclassified probably benign
RF051:Il2 UTSW 3 37,125,841 (GRCm38) unclassified probably benign
RF058:Il2 UTSW 3 37,125,821 (GRCm38) unclassified probably benign
RF058:Il2 UTSW 3 37,125,817 (GRCm38) unclassified probably benign
RF061:Il2 UTSW 3 37,125,841 (GRCm38) unclassified probably benign
RF064:Il2 UTSW 3 37,125,764 (GRCm38) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- GTTATTAAACACAGCCTTTGGCAAG -3'
(R):5'- GGTAATGCTTTCTGCCACAC -3'

Sequencing Primer
(F):5'- TTTGGCAAGAAAGCTAAAGGTATTGC -3'
(R):5'- GCCACACAGGTAGACTCTTTG -3'
Posted On 2019-12-04