Mutagenetix > Incidental Mutation

Incidental Mutation 'RF033:Il2'

604440

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 #

RF033 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

37174862-37180103 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

AGGTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG to AGCTGCTGCTGCTGCTGCTGCTGCTG at 37179913 bp (GRCm39)

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

Domain	Start	End	E-Value	Type
IL2	1	168	4.75e-134	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000147773

SMART Domains

Protein: ENSMUSP00000121015
Gene: ENSMUSG00000027719

Domain	Start	End	E-Value	Type
Pfam:A_deamin	1	176	1.3e-49	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

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: 42 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
AI837181	GCG	GCGTCG	19: 5,475,252 (GRCm39)	probably benign	Het
AI837181	CG	CGGTG	19: 5,475,265 (GRCm39)	probably benign	Het
Arid1b	GGGG	GGGGGGG	17: 5,045,860 (GRCm39)	probably benign	Het
AY761185	CCCGGGCACT	C	8: 21,433,904 (GRCm39)	probably benign	Het
Chga	AGC	AGCTGC	12: 102,527,655 (GRCm39)	probably benign	Het
Cul9	CCT	CCTTCT	17: 46,811,780 (GRCm39)	probably benign	Het
Dbr1	GAGGAG	GAGGAGTAGGAG	9: 99,465,750 (GRCm39)	probably null	Het
Dcdc2b	GCTGC	GCTGCCAGGCCTGC	4: 129,503,444 (GRCm39)	probably benign	Het
Dennd10	ACTC	ACTCCTC	19: 60,803,056 (GRCm39)	probably benign	Het
E4f1	AGGC	AGGCGGC	17: 24,674,157 (GRCm39)	probably benign	Het
Fbrsl1	GTG	GTGAGTGTGCTGATG	5: 110,525,991 (GRCm39)	probably benign	Het
Gab3	TTC	TTCGTC	X: 74,043,607 (GRCm39)	probably benign	Het
Gab3	TCT	TCTGCT	X: 74,043,629 (GRCm39)	probably benign	Het
Gm47955	TGG	TGGTTGTGGCGG	1: 82,938,246 (GRCm39)	probably benign	Het
Gm5475	GAAAGGTGGAAGGAAA	GAA	15: 100,325,025 (GRCm39)	probably null	Het
Gm8369	GTGTGT	GTGTGTCTGTGT	19: 11,489,142 (GRCm39)	probably benign	Het
Heatr3	TTAT	TTATGTAT	8: 88,883,084 (GRCm39)	probably benign	Het
Lkaaear1	CCAGCTCCAGCT	CCAGCTCCAGCTTCAGCTCCAGCT	2: 181,339,381 (GRCm39)	probably benign	Het
Luzp1	A	AGGTGTCCTCTTCAGC	4: 136,270,507 (GRCm39)	probably benign	Het
Mamld1	GCA	GCATCA	X: 70,162,439 (GRCm39)	probably benign	Het
Map1a	CAGCTCCAGCTCCAGCTCCA	CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCGAGCTCCAGCTCCAGCTCCA	2: 121,136,780 (GRCm39)	probably benign	Het
Med12l	GC	GCATC	3: 59,183,416 (GRCm39)	probably benign	Het
Med12l	CAG	CAGAAG	3: 59,183,402 (GRCm39)	probably benign	Het
Med12l	CAG	CAGAAG	3: 59,183,408 (GRCm39)	probably benign	Het
Nalf2	CG	CGCCGCTG	X: 98,864,979 (GRCm39)	probably benign	Het
Ncoa6	TGCAGC	TGC	2: 155,263,651 (GRCm39)	probably benign	Het
Nefh	GGGGACTTG	GGGGACTTGTCCTCACCTGGGACTTG	11: 4,891,029 (GRCm39)	probably null	Het
Nefh	CCTCACCTGGGGACTTGG	CCTCACCTGGGGACTTGGACTCACCTGGGGACTTGG	11: 4,891,039 (GRCm39)	probably benign	Het
Nf2	AAAAG	A	11: 4,779,936 (GRCm39)	probably null	Het
Nusap1	GCAAGCTGAGA	GCAAGCTGAGATACACGTTAGCAGTGAGGTTCAAGCTGAGA	2: 119,458,081 (GRCm39)	probably benign	Het
P4ha3	GGGGG	GGGGGG	7: 99,960,017 (GRCm39)	probably null	Het
Pdia4	ATCCTCTTCCTC	ATC	6: 47,785,222 (GRCm39)	probably benign	Het
Pkhd1l1	TTT	TTTTTTTTTTCTT	15: 44,421,902 (GRCm39)	probably benign	Het
Prr5l	GCCTC	G	2: 101,627,918 (GRCm39)	probably null	Het
Rbm12	TTG	TTGTGGGACCAGGTATTGCGGGACCAGGTATTG	2: 155,938,002 (GRCm39)	probably benign	Het
Rbm12	TG	TGTGGGACCAGGTATTGCGGGACCAGGTATTG	2: 155,938,003 (GRCm39)	probably benign	Het
Rbm12	G	GTGGGACCAGGTATTGCGGGACCAGGTATTG	2: 155,938,004 (GRCm39)	probably benign	Het
Rbm12	GTATTG	GTATTGTGGGACCAGGTATTGCGGGACCAGGTATTG	2: 155,937,999 (GRCm39)	probably benign	Het
Rbm12	TATTG	TATTGTGGGACCAGGTATTGCGGGACCAGGCATTG	2: 155,938,000 (GRCm39)	probably benign	Het
Spmap2l	ATCCTCCCCAGTCCCGCAAGGCCAG	ATCCTCCCCAGTCCCGCAAGGCCAGCGCTCCTCCCCAGTCCCGCAAGGCCAG	5: 77,164,252 (GRCm39)	probably benign	Het
Spmap2l	G	GCGATCCTCCCCAGTCCCGCAAGGCCAC	5: 77,164,276 (GRCm39)	probably benign	Het
Tmem59	TGTTT	TGTTTGTTGGTTT	4: 107,047,725 (GRCm39)	probably benign	Het

Other mutations in Il2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01518:Il2	APN	3	37,177,156 (GRCm39)	missense	possibly damaging	0.64
IGL02047:Il2	APN	3	37,180,000 (GRCm39)	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- TGAGCATCCTGGGGAGTTTC -3'
(R):5'- ATAAATTGCCTCCCATGCTGAAG -3'

Sequencing Primer
(F):5'- CAGGTTCCTGTAATTCTGAGAAAGCG -3'
(R):5'- ATGCTGAAGAGCTGCCTATC -3'

Posted On

2019-12-04