Mutagenetix > Incidental Mutation

Incidental Mutation 'RF039:Il2'

604699

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 #

RF039 (G1)

Quality Score

171.468

Status

Not validated

Chromosome

Chromosomal Location

37120523-37125959 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

GG to GGGCTTGTTGTGTG at 37125842 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: 98.5%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	GCATCCTGGGCTGCT	GCATCCTGGGCTGCTTCATCCTGGGCTGCT	4: 155,905,092		probably benign	Het
Ankhd1	GGCGGC	GGCGGCTGCGGC	18: 36,560,918		probably benign	Het
Camkv	CGCTGCTGC	CGC	9: 107,947,860		probably benign	Het
Cckbr	GCA	G	7: 105,434,686		probably null	Het
Cd276	G	A	9: 58,535,504	R223C	probably damaging	Het
Cdx1	CTGCTG	CTGCTGATGCTG	18: 61,019,870		probably benign	Het
Cul9	CCT	CCTTCT	17: 46,500,854		probably benign	Het
Dcdc2b	GCTGC	GCTGCCAGGTCTGC	4: 129,609,651		probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 73,640,611		probably benign	Het
Eml6	CTAAAAAAACAAAACA	C	11: 29,752,551		probably benign	Het
Eps8	C	CTCAT	6: 137,517,070		probably null	Het
Exd2	CACAGCCA	C	12: 80,475,941		probably null	Het
Gab3	TTC	TTCGTC	X: 75,000,004		probably benign	Het
Gm10718	ATTTTCAGTTTCCTCGCCATATTCCAGGTCCTACAGTGTGCATTTCTCATTTTTCACGTTTTTCAGT	ATTTTCAGT	9: 3,024,385		probably null	Het
Gm21671	CTTT	C	5: 25,950,859		probably benign	Het
Gm8369	GTG	GTGTTTTTG	19: 11,511,782		probably benign	Het
Gm8369	GTGTGT	GTGTGTTTGTGT	19: 11,511,758		probably benign	Het
Igf1r	GG	GGTGATGGAGCTTG	7: 68,226,176		probably benign	Het
Kif12	GGC	GGCCTCCAACCGGCCAGC	4: 63,171,425		probably benign	Het
L1td1	AGGAGGAGGAGGAGGAGGAGGAGGGGGAGGAGGAG	AGGAGGAGGAG	4: 98,736,789		probably benign	Het
Lrch1	CGTGGTGCTGGTGGTGTTGGTGGTGTTGGTGGTGCTGGTGG	CGTGGTGTTGGTGGTGTTGGTGGTGCTGGTGG	14: 74,947,549		probably benign	Het
Lypd8	ACCAATCACCAAC	ACCAATCACCAACTGTTCCCTCGCCTCTGTTTCCCCCCCAATCACCAAC	11: 58,390,231		probably benign	Het
Mamld1	CAG	CAGAAG	X: 71,118,840		probably benign	Het
Mamld1	AGC	AGCCGC	X: 71,118,826		probably benign	Het
Map1a	CCAGC	CCAGCCCCAGCTCCAGCTCCAGCTCCAGCTACAGC	2: 121,306,304		probably benign	Het
Mast4	CCTCGGGGACAAGCTGTGAGTTGGGGAAC	CC	13: 102,739,241		probably benign	Het
Nefh	AGCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	AGCTGGGGACTTGGCCTCAGCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,007		probably benign	Het
Olfr1287	G	A	2: 111,449,551	G137D	not run	Het
Papd7	GACA	G	13: 69,533,854		probably benign	Het
Pdcd11	GGAGGAGA	G	19: 47,113,455		probably null	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,709,168		probably benign	Het
Pnmal1	CAACATC	CAACATCTCATGATGCACCTGCTTTAACATC	7: 16,961,444		probably benign	Het
Prp2	AGGCCCACAGCAGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	AGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	6: 132,600,501		probably benign	Het
Prr5l	GCCTC	G	2: 101,797,573		probably null	Het
Rassf6	ATTC	ATTCTGCCTCACTCATGTTCCTGTAGAGCAATGGGGTTTC	5: 90,608,939		probably benign	Het
Rassf6	TCATGGTCCTGTAGAGCAATGGGGATTC	TCATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACGCATGGTCCTGTAGAGCAATGGGGATTC	5: 90,608,915		probably benign	Het
Slc39a4	TC	TCATCGTGATCACCATGGTCACCATGATCACTGTGGAC	15: 76,614,871		probably benign	Het
Slc39a4	GTC	GTCATCATGATCACCATGGTCCCCATGATCACTGTGCTC	15: 76,614,870		probably benign	Het
Strn	TTACCCC	TTACCCCTGGCCGTGCTCCCTTACCCCAGTCCGTGCGCCCGTACCCC	17: 78,677,278		probably null	Het
Tbc1d12	CGGAGGAGG	CGG	19: 38,836,957		probably benign	Het
Tfeb	CAG	CAGAAG	17: 47,786,095		probably benign	Het
Tfeb	CAG	CAGTAG	17: 47,786,110		probably null	Het
Thbs1	TGACCTTAG	TG	2: 118,122,865		probably benign	Het
Thegl	GCGATCCTCCCCAGTCCCGCAAGGCCA	GCGATCCTCCCCAGGCCCGCAAGGCCACCGATCCTCCCCAGTCCCGCAAGGCCA	5: 77,016,402		probably benign	Het
Tmem28	CCG	CCGCCGGCG	X: 99,821,372		probably benign	Het
Tmprss13	ATCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC	ATCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC	9: 45,328,464		probably benign	Het
Triobp	CCCCAGGACTCCCTGTGCCCAACGG	CCCCAGGACTCCCTGTGCCCAACGGAACAAACCCAGGACTCCCTGTGCCCAACGG	15: 78,967,036		probably benign	Het
Triobp	CAGGACTCCCTGTGCCCAACGG	CAGGACTCCCTGTGCCCAACGGAACAACCCAAGGACTCCCTGTGCCCAACGG	15: 78,967,039		probably benign	Het
Ufl1	C	T	4: 25,280,628	R73Q	possibly damaging	Het
Yipf3	AGAGGA	AGA	17: 46,248,972		probably benign	Het
Zc3h4	TGACATGCACCCTGACATGCACCCAGACATGCACCCCGACATGCACCCTGACATGCACCCCGACATGCACCCCGACATGCACCCTGACATGCA	TGACATGCACCCTGACATGCACCCCGACATGCACCCCGACATGCACCCTGACATGCA	7: 16,429,618		probably benign	Het

Other mutations in Il2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01518:Il2	APN	3	37,123,007 (GRCm38)	missense	possibly damaging	0.64
IGL02047:Il2	APN	3	37,125,851 (GRCm38)	missense	probably benign	0.01
FR4304:Il2	UTSW	3	37,125,826 (GRCm38)	unclassified	probably benign
FR4737:Il2	UTSW	3	37,125,828 (GRCm38)	unclassified	probably benign
FR4737:Il2	UTSW	3	37,125,764 (GRCm38)	unclassified	probably benign
FR4976:Il2	UTSW	3	37,125,829 (GRCm38)	unclassified	probably benign
R8805:Il2	UTSW	3	37,123,133 (GRCm38)	missense	possibly damaging	0.78
R9287:Il2	UTSW	3	37,125,839 (GRCm38)	missense	probably damaging	0.99
RF001:Il2	UTSW	3	37,125,762 (GRCm38)	unclassified	probably benign
RF023:Il2	UTSW	3	37,125,820 (GRCm38)	unclassified	probably benign
RF029:Il2	UTSW	3	37,125,827 (GRCm38)	unclassified	probably benign
RF030:Il2	UTSW	3	37,125,842 (GRCm38)	unclassified	probably benign
RF030:Il2	UTSW	3	37,125,827 (GRCm38)	unclassified	probably benign
RF033:Il2	UTSW	3	37,125,842 (GRCm38)	unclassified	probably benign
RF033:Il2	UTSW	3	37,125,764 (GRCm38)	unclassified	probably benign
RF036:Il2	UTSW	3	37,125,827 (GRCm38)	unclassified	probably benign
RF038:Il2	UTSW	3	37,125,821 (GRCm38)	nonsense	probably null
RF041:Il2	UTSW	3	37,125,842 (GRCm38)	unclassified	probably benign
RF043:Il2	UTSW	3	37,125,842 (GRCm38)	unclassified	probably benign
RF051:Il2	UTSW	3	37,125,841 (GRCm38)	unclassified	probably benign
RF058:Il2	UTSW	3	37,125,821 (GRCm38)	unclassified	probably benign
RF058:Il2	UTSW	3	37,125,817 (GRCm38)	unclassified	probably benign
RF061:Il2	UTSW	3	37,125,841 (GRCm38)	unclassified	probably benign
RF064:Il2	UTSW	3	37,125,764 (GRCm38)	unclassified	probably benign

Predicted Primers

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

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

Posted On

2019-12-04