Mutagenetix > Incidental Mutation

Incidental Mutation 'RF051:Il2'

605137

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 #

RF051 (G1)

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

37174862-37180103 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

GGG to GGGGCTTGAAGTGGG at 37179990 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: 99.4%
20x: 98.9%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cnpy3	CTC	CTCATC	17: 47,047,674 (GRCm39)		probably benign	Het
Gabre	CTCCGG	CTCCGGGTCCGG	X: 71,313,655 (GRCm39)		probably benign	Het
Garin5a	GGGTCTGAGGGAGGA	GGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCTAGGTCTGAGGGAGGA	7: 44,149,947 (GRCm39)		probably null	Het
Gm14399	G	C	2: 174,972,994 (GRCm39)	Q254E	probably benign	Het
Hsdl2	TGC	TGCCGGAGCAGCCACAGCGGC	4: 59,610,636 (GRCm39)		probably benign	Het
Hsdl2	CAGCTGCAG	CAGCTGCAGCAGCAGCCAAAGCTGCAG	4: 59,610,650 (GRCm39)		probably benign	Het
Kmt2c	CCTTCT	CCT	5: 25,518,477 (GRCm39)		probably benign	Het
Manbal	CGATAGAAT	C	2: 157,237,932 (GRCm39)		probably null	Het
Map1a	CTCCAGCTCCAGCTCCAGCTCCA	CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCA	2: 121,136,777 (GRCm39)		probably benign	Het
Mei1	GC	GCTGGCTGCC	15: 81,954,211 (GRCm39)		probably null	Het
Nalf2	GCCGCC	GCCGCCACCGCC	X: 98,864,968 (GRCm39)		probably benign	Het
Nbea	TTTA	T	3: 55,916,633 (GRCm39)		probably benign	Het
Nefh	TGGCC	TGGCCGCACCTGGGGCCTCGGCC	11: 4,891,054 (GRCm39)		probably benign	Het
Or2b7	GCCAAACCCTGTGAGCAAGCAGTTATAACCATCTTTATGCAAACCCTGTGAGCAAGCAGTTATAACCATCTTTAT	GGCAAACCCTGTGAGCAAGCAGTTATAACCATCTTTAT	13: 21,739,693 (GRCm39)		probably null	Het
Pde3b	GGTGGTGGTG	GGTGGTGGTGGTG	7: 114,134,010 (GRCm39)		probably benign	Het
Plekhg2	GGTG	GG	7: 28,061,777 (GRCm39)		probably null	Het
Rassf6	AGCAATGGGGA	AGCAATGGGGAATCTGCCTCACTCATGGTCCTGTAGCGCAATGGGGA	5: 90,756,788 (GRCm39)		probably benign	Het
Smarca2	AGCAGC	AGCAGCCGCAGC	19: 26,608,388 (GRCm39)		probably benign	Het
Stard8	GAG	GAGCAG	X: 98,110,130 (GRCm39)		probably benign	Het
Tcof1	CTTGGC	CTTGGCTGCTGAGATGGGCACTTTCCCAGAGATCCCATTGGC	18: 60,966,651 (GRCm39)		probably benign	Het
Triobp	AGCCCCAGGACTCCCTGTGCCCAACGG	AGCCCCAGGACTCCCTGTGCCCAACGGAACAGCCCCAGGACTCCCTGTGCCCAACGG	15: 78,851,234 (GRCm39)		probably benign	Het
Usp2	C	CTCATGTGACCTGTTCTTCACTTCT	9: 44,000,426 (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
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
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'- TTGGCAAGAAAGCTAAAGGTATTGC -3'
(R):5'- TGCCACACAGGTAGACTCTTTG -3'

Sequencing Primer
(F):5'- CCTATAGATGGGATGGCTGTGCAC -3'
(R):5'- GTAATATGTAAAACATCGTGACACCC -3'

Posted On

2019-12-04