Mutagenetix > Incidental Mutation

Incidental Mutation 'RF043:Il2'

604905

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 #

RF043 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

37174862-37180103 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

GG to GGGCTTGAAGTGTG at 37179991 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: 98.7%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc2	GCGGCGGCGGCGAC	GC	2: 25,162,573 (GRCm39)		probably benign	Het
Ankhd1	CGGCGG	CGGCGGTGGCGG	18: 36,693,970 (GRCm39)		probably benign	Het
Btnl10	CAAA	CAAAAAA	11: 58,814,752 (GRCm39)		probably benign	Het
Cpne1	TCCAC	TC	2: 155,915,430 (GRCm39)		probably benign	Het
Cyb5r4	ACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACACTGCCCAGGGATGTGACAGACGCACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 86,922,464 (GRCm39)		probably benign	Het
Cyb5r4	AGACACACTGCCCAGGGA	AGACACACTGCCCAGGGATGTGACCGACACACTGCCCAGGGA	9: 86,922,484 (GRCm39)		probably benign	Het
Dbr1	GAGGAG	GAGGAGCAGGAG	9: 99,465,750 (GRCm39)		probably benign	Het
Defb22	GCGGCA	GCGGCAGAGCTGGCCTTTGCGGCA	2: 152,327,753 (GRCm39)		probably benign	Het
Emid1	G	T	11: 5,094,322 (GRCm39)	P63Q	probably damaging	Het
Gabre	GCTCCG	GCTCCGACTCCG	X: 71,313,654 (GRCm39)		probably benign	Het
Gar1	AACTGCC	A	3: 129,624,337 (GRCm39)		probably benign	Het
Gm10181	GAGAGAGAGAGAGA	G	9: 25,000,755 (GRCm39)		probably null	Het
Hic1	GGGA	G	11: 75,060,281 (GRCm39)		probably benign	Het
Iqcf4	CTTTTCCTTTT	CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCGTTTTCCTTTT	9: 106,447,812 (GRCm39)		probably benign	Het
Irag2	TG	TGAGCACATGG	6: 145,119,516 (GRCm39)		probably benign	Het
Krtap4-2	AGGGGCGGCAGC	A	11: 99,525,547 (GRCm39)		probably null	Het
Lmx1b	CATCTTGATGCCGTCCAA	CA	2: 33,530,521 (GRCm39)		probably null	Het
Lrch1	TGGTGGTG	T	14: 75,185,015 (GRCm39)		probably null	Het
Lypd8	CA	CAGTTCCCTCGCCTCTGTTACCCCACAAATCACCAAGA	11: 58,281,069 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCTGC	X: 70,162,441 (GRCm39)		probably benign	Het
Mrgprx1	GAAC	GAACAAC	7: 47,671,257 (GRCm39)		probably benign	Het
Nefh	CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA	CTTGGCCTCACCTGGGGAATTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA	11: 4,891,016 (GRCm39)		probably benign	Het
Nusap1	AGTGAGGAGCAAGCTGAGA	AGTGAGGAGCAAGCTGAGATACACGTTAGCCGTGAGGAGCAAGCTGAGA	2: 119,458,073 (GRCm39)		probably benign	Het
P4ha2	GGTGTTG	GG	11: 54,001,076 (GRCm39)		probably null	Het
Padi3	TCTCAC	TC	4: 140,520,283 (GRCm39)		probably benign	Het
Plekhs1	TCCAGAC	TCCAGACCTCCCCCCAGAC	19: 56,468,290 (GRCm39)		probably benign	Het
Ptms	TCCTCCTC	TCCTCCTCCTC	6: 124,891,411 (GRCm39)		probably benign	Het
Rassf6	AATGGGGATTC	AATGGGGATTCTGCCTCACTCATGGTCCTGTAGAGCCATGGGGATTC	5: 90,756,791 (GRCm39)		probably benign	Het
Rassf6	ATTC	ATTCTGCCTCACTCAGGGTCCTGTAGAGCAATGGGGCTTC	5: 90,756,798 (GRCm39)		probably benign	Het
Rgs22	CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAA	15: 36,010,982 (GRCm39)		probably benign	Het
Rnf144a	TCTC	TCTCTCTCTCTCTCGCTC	12: 26,364,013 (GRCm39)		probably benign	Het
Rpgrip1	GAG	GAGAAG	14: 52,386,852 (GRCm39)		probably benign	Het
Sgpp1	ACACAC	A	12: 75,769,399 (GRCm39)		probably null	Het
Slc39a4	GTC	GTCATCATGATCACCATGGTCACCATGATCGCTGTGTTC	15: 76,499,070 (GRCm39)		probably benign	Het
Spaca1	TCTCGC	TCTCGCGCTCGC	4: 34,049,846 (GRCm39)		probably benign	Het
Stard8	GGA	GGATGA	X: 98,110,126 (GRCm39)		probably benign	Het
Stard8	GA	GAGCA	X: 98,110,133 (GRCm39)		probably benign	Het
Tcof1	AGATCCCCTTGGC	AGATCCCCTTGGCTGCTGAGAAGGGCACTTTCCCAGGGATCCCCTTGGC	18: 60,966,644 (GRCm39)		probably benign	Het
Tgoln1	TGGGCTTG	TGGGCTTGTCAGAATCACCTCCTGCGGGCTTG	6: 72,593,019 (GRCm39)		probably benign	Het
Tgoln1	GCTTGCCAGAAT	GCTTGCCAGAATCACCGCCCGTGGTCTTGCCAGAAT	6: 72,593,046 (GRCm39)		probably benign	Het
Tmed6	AGC	AGCTCGC	8: 107,788,228 (GRCm39)		probably null	Het
Trappc9	GCTGCTGCTGCTGCTGCTGCTGCTGCT	GCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTGCTGCT	15: 72,673,154 (GRCm39)		probably benign	Het
Zfp933	TT	TTTGCCT	4: 147,910,188 (GRCm39)		probably null	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
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'- TTGGCAAGAAAGCTAAAGGTATTGC -3'
(R):5'- GGTAATGCTTTCTGCCACAC -3'

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

Posted On

2019-12-04