Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4976:Il2'

511817

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 #

FR4976 ()

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

37120523-37125959 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

GG to GGGGCTTGAAGTAG at 37125829 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: 99.6%
10x: 98.7%
20x: 96.9%

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: 222 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	TTC	TTCATC	12: 110,668,447		probably benign	Het
1700001K19Rik	TTC	TTCGTC	12: 110,668,450		probably benign	Het
2010300C02Rik	T	A	1: 37,625,035	E594V	probably benign	Homo
2010300C02Rik	C	A	1: 37,625,036	E594*	probably null	Homo
2010300C02Rik	A	G	1: 37,625,102	S47P	probably damaging	Homo
4930402H24Rik	TCC	TCCCCC	2: 130,770,739		probably benign	Het
4930402H24Rik	TCC	TCCACC	2: 130,770,742		probably benign	Het
4930402H24Rik	C	CTCG	2: 130,770,753		probably benign	Het
Abt1	TTCTTGCT	TT	13: 23,423,711		probably benign	Het
AI837181	GGC	GGCCGC	19: 5,425,229		probably benign	Het
Akap12	AAA	AAACAA	10: 4,353,837		probably benign	Het
Alg1	GCTCACTCAC	GCTCAC	16: 5,244,561		probably null	Homo
Alg9	G	GCGA	9: 50,775,431		probably benign	Het
Amfr	GCC	GCCGGCGCGAGCTCC	8: 94,012,292		probably benign	Het
Anapc2	TGGCGGTGGCGGCGGCGGCGGCGGCGGCGG	TGGCGGCGGCGGCGGCGG	2: 25,272,532		probably benign	Het
Anxa7	C	T	14: 20,469,411	G113E	probably damaging	Homo
Apc	CCAATAAAG	CCAATAAAGTCAATAAAG	18: 34,281,998		probably benign	Het
Apc	AATAAAGC	AATAAAGCCTATAAAGC	18: 34,282,000		probably benign	Het
Apc	AAGC	AAGCCAATATAGC	18: 34,282,004		probably null	Het
Atad3a	C	A	4: 155,753,939	R207L	probably damaging	Homo
BC051142	AGC	AGCGGC	17: 34,460,058		probably benign	Het
BC051142	AGC	AGCGGC	17: 34,460,061		probably benign	Het
Blm	ACCT	ACCTCCCT	7: 80,463,767		probably benign	Homo
Blm	TCCTCCTCCTCCTCCTCCTCCTCC	TCCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCTCC	7: 80,512,907		probably benign	Het
Bmp5	GAGGAGT	G	9: 75,776,375		probably benign	Homo
Bpifa6	A	T	2: 153,986,376	Q134L	probably benign	Homo
Bpifa6	A	T	2: 153,986,398	R141S	probably benign	Homo
Btnl10	AGA	AGAGGA	11: 58,923,929		probably benign	Homo
Cacna1a	ACC	ACCGCC	8: 84,638,717		probably benign	Het
Cacna1a	ACC	ACCTCC	8: 84,638,726		probably benign	Het
Calhm1	TGGCTGTGGCTG	TGGCTGTGGCTGCGGCTGTGGCTG	19: 47,141,262		probably benign	Het
Catsper2	C	CTTTTACTTTTTT	2: 121,397,542		probably benign	Homo
Catsper2	TGTC	TGTCGTC	2: 121,397,779		probably benign	Homo
Catsper2	CAT	CATTAT	2: 121,397,782		probably benign	Het
Catsper2	ATCGTCGTCGTC	ATCGTCGTCGTCGTC	2: 121,397,795		probably benign	Het
Ccdc170	ACCGCC	ACCGCCGCC	10: 4,561,008		probably benign	Het
Ccdc170	ACC	ACCGCC	10: 4,561,023		probably benign	Het
Ccdc170	AC	ACCTC	10: 4,561,029		probably benign	Het
Ccnk	TTCCCAC	T	12: 108,202,507		probably benign	Het
Cdx1	GGGCTGC	GGGCTGCGGCTGC	18: 61,019,867		probably benign	Het
Cdx1	GCTGCT	GCTGCTTCTGCT	18: 61,019,869		probably benign	Het
Cep112	G	GCTCT	11: 108,425,352		probably benign	Het
Cep89	GACT	G	7: 35,409,641		probably benign	Het
Cfap46	CCTTCT	CCTTCTTCT	7: 139,638,930		probably benign	Homo
Chd4	GC	GCTCCCTC	6: 125,122,131		probably benign	Homo
Cluh	GCCTGA	GCCTGAACCTGA	11: 74,669,520		probably benign	Het
Cnpy3	CCT	CCTACT	17: 46,736,747		probably null	Het
Cntnap1	A	ACCCCCC	11: 101,189,569		probably benign	Het
Cntnap1	CCCAGC	CCCAGCACCAGC	11: 101,189,572		probably benign	Het
Cntnap1	CCAGCC	CCAGCCTCAGCC	11: 101,189,585		probably benign	Het
Cntnap1	GCCCCA	GCCCCACCCCCA	11: 101,189,588		probably benign	Het
Col4a3	CGTTTTTTTTTTTTTTTT	C	1: 82,718,906		probably null	Het
Cpne1	AGA	AGAGAGA	2: 156,072,025		probably null	Homo
Ctsm	AGTG	AGTGGGTG	13: 61,537,836		probably null	Homo
Cttnbp2	GCTGCT	GCTGCTCCTGCT	6: 18,367,461		probably benign	Het
Cttnbp2	GCTGCT	GCTGCTTCTGCT	6: 18,367,467		probably benign	Het
Cul9	CTTC	CTTCTTC	17: 46,500,848		probably benign	Het
Cul9	TCC	TCCGCC	17: 46,500,850		probably benign	Het
Cul9	TCC	TCCCCC	17: 46,500,853		probably benign	Het
Cul9	TCC	TCCCCC	17: 46,500,856		probably benign	Het
Cybrd1	GAAT	G	2: 71,138,511		probably benign	Homo
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,583,689		probably benign	Het
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,583,692		probably benign	Het
Dbr1	AGG	AGGAGGCGG	9: 99,583,701		probably benign	Het
Dbr1	GG	GGAGGAAG	9: 99,583,702		probably benign	Het
Dcaf8	C	T	1: 172,172,856	H194Y	probably damaging	Homo
Dnajc19	AC	ACGC	3: 34,057,994		probably null	Het
Dthd1	GAC	GACTAC	5: 62,843,024		probably benign	Homo
Dusp10	G	T	1: 184,037,056	C73F	probably damaging	Homo
Eif3a	A	ATTTTT	19: 60,775,291		probably benign	Homo
Ermn	CTT	CTTGTT	2: 58,048,080		probably benign	Het
Ermn	TC	TCTAC	2: 58,048,088		probably benign	Het
Fam45a	ACTC	ACTCCTC	19: 60,814,618		probably benign	Homo
Fam45a	T	TTCA	19: 60,814,622		probably benign	Homo
Fbxo38	TGCAGC	TGC	18: 62,515,347		probably benign	Het
Frem3	CT	CTTGT	8: 80,615,241		probably benign	Homo
Fsip2	TTTTT	TTTTTGTTTT	2: 82,984,362		probably benign	Het
Fsip2	TT	TTTTTCT	2: 82,984,365		probably benign	Het
Gabre	AGGCT	AGGCTGCGGCT	X: 72,270,418		probably benign	Homo
Gabre	T	TGAGGCC	X: 72,270,422		probably benign	Homo
Gm10800	A	AC	2: 98,667,033		probably null	Homo
Gm14393	T	G	2: 175,061,820	N98T	probably benign	Het
Gm16503	G	A	4: 147,541,253	G68E	unknown	Het
Gm28040	TG	TGGCACCTTTCGAG	1: 133,327,323		probably benign	Homo
Gm4340	AGC	AGCCGC	10: 104,196,079		probably benign	Het
Gm6309	C	T	5: 146,168,183	V307I	probably benign	Het
Gm7534	TG	TGCCG	4: 134,202,630		probably benign	Homo
Golga5	G	A	12: 102,475,660		probably null	Homo
Gpatch11	GAAGAG	GAAGAGCAAGAG	17: 78,842,170		probably benign	Het
Gpatch11	AAGAGG	AAGAGGCAGAGG	17: 78,842,171		probably benign	Het
Gpatch11	AGAGGA	AGAGGATGAGGA	17: 78,842,172		probably benign	Het
Gpatch11	GAGGAA	GAGGAATAGGAA	17: 78,842,173		probably null	Het
Gpatch11	AGGAA	AGGAAGTGGAA	17: 78,842,180		probably benign	Het
H2-K1	GTTT	G	17: 33,997,042		probably benign	Homo
Hcn1	GCAGC	GCAGCGACAGC	13: 117,975,808		probably benign	Homo
Hoxa10	T	A	6: 52,234,186	Q250L	possibly damaging	Homo
Igf1r	TGGAGC	TGGAGCTGGAGAGGGAGC	7: 68,226,181		probably benign	Het
Igf1r	C	CTGGAGATGGAGA	7: 68,226,186		probably benign	Het
Il17rd	CGG	CGGTGG	14: 27,082,677		probably benign	Het
Ipo9	TCC	TCCCCC	1: 135,386,281		probably benign	Het
Iqcc	T	TGTCAGCCTCCTTGTACCC	4: 129,616,676		probably benign	Het
Isg20l2	AAG	AAGTAG	3: 87,931,715		probably null	Het
Kcng4	G	T	8: 119,633,519	Y39*	probably null	Homo
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,586,360		probably benign	Het
Kmt2b	CTCCTC	CTCCTCGTCCTC	7: 30,586,362		probably benign	Het
Kmt2b	CCTCCT	CCTCCTACTCCT	7: 30,586,364		probably null	Het
Kmt2b	TCCTCC	TCCTCCACCTCC	7: 30,586,366		probably benign	Het
Kmt2b	CCTCCT	CCTCCTGCTCCT	7: 30,586,373		probably benign	Het
Kmt2c	TGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	TGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	5: 25,315,763		probably benign	Homo
Krtap9-3	AC	ACAGGTGCCTC	11: 99,598,004		probably benign	Homo
Las1l	AGG	AGGGGG	X: 95,940,827		probably benign	Het
Las1l	GA	GAGAA	X: 95,940,832		probably benign	Het
Las1l	A	AGGC	X: 95,940,833		probably benign	Het
Lce1m	TGCCAC	TGCCACTGCTGCAGCCAC	3: 93,018,148		probably benign	Het
Leo1	GGTACCATGCAG	GG	9: 75,450,572		probably benign	Het
Lrit3	CATA	CATAAATA	3: 129,803,910		probably benign	Homo
Lrmp	CACATTG	CACATTGAGGACATTG	6: 145,173,785		probably benign	Homo
Mamld1	GCAACA	GCAACAACA	X: 71,118,812		probably benign	Het
Mamld1	GCA	GCAACA	X: 71,118,818		probably benign	Het
Mast4	TGG	TGGGGGCGG	13: 102,736,312		probably benign	Het
Mast4	GGACAAGCTGTGAGTTGGGGAACCCGGGAG	GG	13: 102,739,247		probably null	Homo
Med12l	GCA	GCACCA	3: 59,275,977		probably benign	Het
Mn1	CAG	CAGAAG	5: 111,419,702		probably benign	Het
Morf4l2	T	C	X: 136,733,622	K286E	probably benign	Het
Msantd4	A	T	9: 4,384,937	I221F	possibly damaging	Homo
Mup21	TT	TTTTTATATACT	4: 62,149,350		probably benign	Het
Nacad	A	ACCAGGG	11: 6,599,749		probably benign	Het
Nacad	TCAGGG	TCAGGGACAGGG	11: 6,599,756		probably benign	Het
Nacad	C	CAGGGTA	11: 6,599,763		probably benign	Het
Nars	CCACTCAC	CCAC	18: 64,510,445		probably benign	Homo
Ndufc2	C	T	7: 97,400,274	P29L	probably damaging	Het
Nkx2-6	C	T	14: 69,175,229	T282M	probably damaging	Homo
Noc2l	AGGC	AGGCGGC	4: 156,240,092		probably benign	Homo
Noc2l	CTG	CTGGTG	4: 156,240,098		probably benign	Het
Nolc1	CAG	CAGAAGCAGAAG	19: 46,081,356		probably benign	Het
Nolc1	AGC	AGCAGCAGCGGC	19: 46,081,375		probably benign	Het
Olfr313	T	A	11: 58,817,440	V144D	possibly damaging	Homo
Olfr418	GGGCTGCTTGTGGCAAT	G	1: 173,270,630		probably null	Het
Olfr547	A	AAACCG	7: 102,535,681		probably null	Homo
Olfr585	T	TTAC	7: 103,098,309		probably benign	Homo
Olfr624	AG	AGAGG	7: 103,670,966		probably benign	Homo
Patl2	CTG	CTGGTG	2: 122,126,139		probably benign	Het
Patl2	GCT	GCTTCT	2: 122,126,141		probably benign	Het
Patl2	GC	GCTTC	2: 122,126,144		probably benign	Het
Patl2	C	CTGA	2: 122,126,145		probably benign	Het
Pdik1l	ACCACC	ACCACCCCCACC	4: 134,279,506		probably benign	Homo
Phc1	TG	TGCTGCGG	6: 122,323,600		probably benign	Het
Phf3	ACTGCCGCTCCCGCTCC	AC	1: 30,805,023		probably benign	Het
Pick1	TTC	TTCTC	15: 79,255,946		probably null	Homo
Piezo1	G	A	8: 122,495,569	R503W	probably damaging	Homo
Pik3ap1	AG	AGGGG	19: 41,281,945		probably benign	Homo
Pik3c2g	AGAGG	AGAGGGAGG	6: 139,635,654		probably null	Homo
Pitrm1	TTTTA	T	13: 6,560,596		probably benign	Homo
Pogz	GTAAT	G	3: 94,874,695		probably benign	Het
Ppp1r3f	C	A	X: 7,560,336	G562V	probably damaging	Homo
Ppp2r5c	G	T	12: 110,540,738		probably null	Homo
Prag1	CCGC	CCGCCGC	8: 36,103,883		probably benign	Homo
Prr13	CACT	CACTACT	15: 102,462,171		probably benign	Homo
Prr13	CTC	CTCTTC	15: 102,462,176		probably benign	Homo
Ptms	TCT	TCTCCT	6: 124,914,454		probably benign	Homo
Ptpn23	G	T	9: 110,387,633	P1052T	probably benign	Homo
Raph1	GG	GGGGG	1: 60,489,267		probably benign	Homo
Rpa1	TGCTGCC	T	11: 75,318,519		probably benign	Het
Rpgrip1	GGA	GGATGA	14: 52,149,394		probably benign	Het
Rpgrip1	GGAAGAAGA	GGA	14: 52,149,544		probably benign	Het
Rps19	AGCGG	AG	7: 24,888,996		probably benign	Homo
Rsf1	G	GACC	7: 97,579,909		probably benign	Homo
Serpina3m	A	G	12: 104,358,623		probably null	Homo
Setd1a	TGGTGGTGGT	TGGTGGTGGTGGTGGTGGT	7: 127,785,307		probably benign	Homo
Setd1a	TAGTGGTGG	TAGTGGTGGGAGTGGTGG	7: 127,785,316		probably benign	Het
Sfswap	ACTCAGCCC	ACTCAGCCCCCTCAGCCC	5: 129,569,751		probably benign	Het
Sh3pxd2b	CCTGTG	CCTGTGTCTGTG	11: 32,423,055		probably benign	Het
Sh3pxd2b	GCCTGT	GCCTGTGCCTGT	11: 32,423,060		probably benign	Homo
Shroom4	GCAGCAACA	GCA	X: 6,624,074		probably benign	Het
Six3	GCG	GCGTCG	17: 85,621,358		probably benign	Het
Six3	CG	CGGGG	17: 85,621,371		probably benign	Het
Skint8	C	T	4: 111,938,902	L258F	probably benign	Homo
Smoc2	AGTT	A	17: 14,401,562		probably benign	Homo
Smpx	CCCCCA	C	X: 157,720,924		probably benign	Homo
Snx1	TC	TCTGC	9: 66,104,929		probably benign	Homo
Snx1	C	CTTT	9: 66,104,930		probably benign	Homo
Sp110	CT	CTAAT	1: 85,587,489		probably benign	Het
Spaca1	GCTCTC	GCTCTCCCTCTC	4: 34,049,844		probably benign	Het
Spaca1	CGCTCT	CGCTCTTGCTCT	4: 34,049,849		probably benign	Het
Spag17	AGG	AGGTGG	3: 100,056,254		probably benign	Het
Spag17	GGA	GGACGA	3: 100,056,255		probably benign	Het
Srebf2	G	T	15: 82,185,335	A693S	probably damaging	Homo
Sry	T	TGGG	Y: 2,662,841		probably benign	Homo
Stard8	AGG	AGGTGG	X: 99,066,513		probably benign	Het
Stard8	AGG	AGGTGG	X: 99,066,525		probably benign	Het
Stk10	CCCA	C	11: 32,614,520		probably benign	Homo
Tap2	ACTG	ACTGCTG	17: 34,205,699		probably benign	Homo
Tbc1d5	G	C	17: 50,799,931	H532Q	probably benign	Homo
Tbc1d5	C	G	17: 50,799,943	Q528H	probably benign	Homo
Tfeb	GCA	GCAACA	17: 47,786,094		probably benign	Het
Tmcc1	G	A	6: 116,193,380		probably benign	Homo
Tob1	AGC	AGCCGC	11: 94,214,472		probably benign	Het
Tpsab1	TTGCACCTCCT	TT	17: 25,343,782		probably benign	Het
Trav15-2-dv6-2	GAA	GAATAA	14: 53,649,754		probably null	Het
Trav15-2-dv6-2	G	GAAC	14: 53,649,757		probably benign	Homo
Trim16	GTGA	GTGATGA	11: 62,820,689		probably benign	Homo
Tsen2	AGG	AGGCGG	6: 115,560,066		probably benign	Homo
Ubtf	TC	TCCGC	11: 102,306,959		probably benign	Het
Vmn1r124	G	T	7: 21,259,936	Q228K	possibly damaging	Het
Vmn1r71	A	C	7: 10,748,121	S147R	probably benign	Homo
Vmn2r99	G	A	17: 19,394,285	G756R	probably damaging	Homo
Vps13b	G	T	15: 35,846,957	A2629S	probably damaging	Homo
Wdr75	AAATAA	AAA	1: 45,823,404		probably benign	Homo
Zfp111	T	G	7: 24,199,037	K383T	probably damaging	Homo
Zfp111	A	ATCG	7: 24,199,807		probably benign	Homo
Zfp26	C	A	9: 20,438,546	A241S	probably benign	Homo
Zfp282	CGG	CGGTGG	6: 47,904,790		probably benign	Het
Zfp335	CTC	CTCTTC	2: 164,907,474		probably benign	Het
Zfp335	TCC	TCCACC	2: 164,907,478		probably benign	Het
Zfp459	TGA	TGAGAGA	13: 67,408,274		probably null	Homo
Zfp459	GA	GAGTTA	13: 67,408,275		probably null	Homo
Zfp459	A	AGTGG	13: 67,408,276		probably null	Homo
Zfp462	ACC	ACCTCAGCCACAGCCGCC	4: 55,009,760		probably benign	Het
Zfp462	CC	CCTCAGCCACAGCCATC	4: 55,009,761		probably benign	Het
Zfp598	CCACAGGC	CC	17: 24,679,372		probably benign	Het
Zfp598	ACCACC	ACCACCCCCACC	17: 24,680,782		probably benign	Het
Zfp683	AG	AGGGG	4: 134,058,879		probably benign	Homo

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
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
RF064:Il2	UTSW	3	37125764	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GGTTATTAAACACAGCCTTTGGC -3'
(R):5'- GCCACACAGGTAGACTCTTTG -3'

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

Posted On

2018-04-05