Mutagenetix > Incidental Mutation

Incidental Mutation 'RF064:Il2'

605477

Institutional Source

Beutler Lab

Gene Symbol

Il2

Ensembl Gene

ENSMUSG00000027720

Gene Name

interleukin 2

Synonyms

IL-2

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

RF064 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

37120523-37125959 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

AGGTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG to AGCTGCTGCTGCTGCTGCTGCTGCTG at 37125764 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

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: 98.7%

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	G	T	2: 25,447,397	E2421D	probably damaging	Het
Acap3	GGCTGCTG	GGCTGCTGCATCCTGCGCTGCTG	4: 155,905,100		probably benign	Het
Blm	CCTCCTCCTCC	CCTCCTCCTCCTACTCCTCCTCC	7: 80,512,923		probably null	Het
Ccdc170	CAC	CACAAC	10: 4,561,025		probably benign	Het
Cgref1	ATTT	ATTTTTT	5: 30,933,774		probably benign	Het
Efhd2	GCCGCC	GCCGCCACCGCC	4: 141,874,755		probably benign	Het
Fbrsl1	GTGCTGGTGCGT	GTGCTGGTGCGTCTGCTGGTGCGT	5: 110,378,131		probably benign	Het
Gabre	C	CCGGCTA	X: 72,270,063		probably null	Het
Gabre	CAGGCT	C	X: 72,270,171		probably null	Het
Gucy2d	GG	GGCGGTCCTGG	7: 98,459,043		probably benign	Het
Klra2	AAAGAAATCCA	AAAGAAATCCAAAGAAATCCA	6: 131,221,839		probably null	Het
Krtap28-10	CCACAG	CCACAGGCACAG	1: 83,042,131		probably benign	Het
Phc1	CTTGCTG	CTTGCTGTTGCTG	6: 122,323,580		probably benign	Het
Stard8	GA	GAGTA	X: 99,066,527		probably null	Het
Sympk	CCCCACCCCTAGC	CC	7: 19,034,395		probably null	Het
Tcof1	GAGATCCCCTTGGC	GAGATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAAAGATCCCCTTGGC	18: 60,833,571		probably benign	Het
Tcof1	ATCCCCTTGGC	ATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGAGCTCCCCTTGGC	18: 60,833,574		probably benign	Het
Thegl	GTCCCGCAAGGCCAG	GTCCCGCAAGGCCAGCGATCCTCCCCACTCCCGCAAGGCCAG	5: 77,016,415		probably benign	Het
Trim33	CCCCGGCCC	CCCC	3: 103,280,195		probably null	Het
Zfp598	CCACCA	CCACCAACACCA	17: 24,680,783		probably benign	Het
Znrd1as	CCACCACCACC	CCACCACCACCCCCACCACCCACACCACCACC	17: 36,965,050		probably benign	Het

Other mutations in Il2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01518:Il2	APN	3	37123007	missense	possibly damaging	0.64
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
R8805:Il2	UTSW	3	37123133	missense	possibly damaging	0.78
R9287:Il2	UTSW	3	37125839	missense	probably damaging	0.99
RF001:Il2	UTSW	3	37125762	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

Predicted Primers

PCR Primer
(F):5'- TTGAAGGTGAGCATCCTGGG -3'
(R):5'- TTGCCTCCCATGCTGAAGAG -3'

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

Posted On

2019-12-04