Mutagenetix > Incidental Mutation

Incidental Mutation 'R5531:Il2ra'

433675

Institutional Source

Beutler Lab

Gene Symbol

Il2ra

Ensembl Gene

ENSMUSG00000026770

Gene Name

interleukin 2 receptor, alpha chain

Synonyms

IL-2R alpha chain, CD25, Il2r, Ly-43

MMRRC Submission

043089-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5531 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11647618-11698004 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11681703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 103 (T103S)

Ref Sequence

ENSEMBL: ENSMUSP00000028111 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028111]

AlphaFold

P01590

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028111
AA Change: T103S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028111
Gene: ENSMUSG00000026770
AA Change: T103S

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
CCP	24	77	5e-2	SMART
CCP	121	180	1.2e-4	SMART
low complexity region	212	223	N/A	INTRINSIC
transmembrane domain	235	257	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195427

Meta Mutation Damage Score

0.1040

Coding Region Coverage

1x: 98.6%
3x: 97.5%
10x: 95.6%
20x: 92.2%

Validation Efficiency

97% (64/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2RB) chains produce a medium-affinity receptor. Normally an integral-membrane protein, soluble IL2RA has been isolated and determined to result from extracellular proteolyisis. Alternately-spliced IL2RA mRNAs have been isolated, but the significance of each is presently unknown. Mutations in this gene are associated with interleukin 2 receptor alpha deficiency.[provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit massive proliferation of polyclonal T and B cells as adults and develop autoimmune disorders including inflammatory bowel disease and hemolytic anemia with age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	C	5: 114,342,767 (GRCm39)	F878L	possibly damaging	Het
Acr	T	A	15: 89,458,146 (GRCm39)	Y276N	probably damaging	Het
AI987944	A	T	7: 41,023,814 (GRCm39)	Y388*	probably null	Het
Ankrd29	G	A	18: 12,412,835 (GRCm39)	T114I	probably damaging	Het
Ap5z1	T	C	5: 142,453,536 (GRCm39)	M168T	probably benign	Het
Bard1	A	C	1: 71,085,880 (GRCm39)	C608W	probably damaging	Het
Brd10	A	G	19: 29,731,072 (GRCm39)	S647P	possibly damaging	Het
Clspn	A	G	4: 126,471,566 (GRCm39)	R907G	probably benign	Het
Cubn	C	T	2: 13,355,743 (GRCm39)	V1830I	probably benign	Het
Cwc22	T	C	2: 77,754,913 (GRCm39)	N221S	probably damaging	Het
Dact3	A	G	7: 16,609,540 (GRCm39)	E64G	possibly damaging	Het
Dhx40	T	C	11: 86,680,330 (GRCm39)	E381G	possibly damaging	Het
Dnah7a	A	G	1: 53,458,907 (GRCm39)	S3744P	possibly damaging	Het
Epha4	A	G	1: 77,351,513 (GRCm39)	V914A	probably benign	Het
Fbxw10	G	A	11: 62,753,482 (GRCm39)	C492Y	probably damaging	Het
G930045G22Rik	C	A	6: 50,824,756 (GRCm39)		noncoding transcript	Het
Gm21103	A	T	14: 17,484,855 (GRCm39)	I63K	probably damaging	Het
Gpr156	T	C	16: 37,825,619 (GRCm39)	V612A	probably benign	Het
Gucy2g	A	G	19: 55,229,572 (GRCm39)	S33P	probably benign	Het
Hibch	A	G	1: 52,884,228 (GRCm39)		probably benign	Het
Hmcn1	A	T	1: 150,619,539 (GRCm39)	C1192S	probably damaging	Het
Hsd11b1	CGG	CG	1: 192,922,557 (GRCm39)		probably null	Het
Ifi214	A	G	1: 173,352,686 (GRCm39)	Y248H	probably damaging	Het
Igf2bp2	T	G	16: 21,907,835 (GRCm39)	I89L	probably damaging	Het
Ino80	T	A	2: 119,276,056 (GRCm39)	M407L	probably benign	Het
Jade1	A	C	3: 41,567,946 (GRCm39)	K671N	probably benign	Het
Lca5	C	T	9: 83,280,648 (GRCm39)	S384N	probably benign	Het
Lce1l	G	T	3: 92,757,804 (GRCm39)	P18H	unknown	Het
Lrrc8d	T	C	5: 105,945,536 (GRCm39)		probably benign	Het
Ly75	T	C	2: 60,195,489 (GRCm39)	N223S	probably damaging	Het
Mcm3	A	T	1: 20,873,768 (GRCm39)	F784Y	possibly damaging	Het
Ncf4	T	G	15: 78,144,988 (GRCm39)		probably benign	Het
Ncoa1	T	A	12: 4,303,746 (GRCm39)	M1362L	probably benign	Het
Or1e16	T	C	11: 73,286,003 (GRCm39)	T282A	probably benign	Het
Or5p5	A	G	7: 107,414,451 (GRCm39)	Y220C	probably benign	Het
Or6c8b	G	C	10: 128,882,433 (GRCm39)	F166L	probably damaging	Het
Prkg2	T	C	5: 99,115,593 (GRCm39)	R543G	probably damaging	Het
Ptprd	A	C	4: 75,977,904 (GRCm39)		probably null	Het
Scap	A	G	9: 110,210,497 (GRCm39)	S969G	possibly damaging	Het
Sgk2	T	C	2: 162,836,624 (GRCm39)	F60S	probably benign	Het
Sgpp1	G	T	12: 75,781,981 (GRCm39)	Y119*	probably null	Het
Siglech	A	T	7: 55,418,413 (GRCm39)	K31*	probably null	Het
Slc40a1	A	G	1: 45,951,498 (GRCm39)	Y220H	probably damaging	Het
Smurf2	G	A	11: 106,743,389 (GRCm39)	T219M	possibly damaging	Het
Speer4f2	A	G	5: 17,581,526 (GRCm39)	K156R	possibly damaging	Het
Spp1	T	G	5: 104,588,424 (GRCm39)	D276E	probably benign	Het
Stk32b	T	C	5: 37,617,078 (GRCm39)		probably null	Het
Stxbp5	G	A	10: 9,638,668 (GRCm39)	Q1044*	probably null	Het
Sv2c	T	A	13: 96,097,886 (GRCm39)	T696S	probably damaging	Het
Tubgcp2	A	C	7: 139,584,937 (GRCm39)		probably null	Het
Ubap1l	C	T	9: 65,278,973 (GRCm39)	P91S	probably damaging	Het
Vmn2r76	A	T	7: 85,874,657 (GRCm39)	D773E	probably damaging	Het
Xirp2	C	G	2: 67,345,646 (GRCm39)	S2629C	probably benign	Het
Zbtb20	C	A	16: 43,431,230 (GRCm39)	C580*	probably null	Het
Zfp957	T	A	14: 79,450,622 (GRCm39)	Q392H	unknown	Het
Zfyve19	C	T	2: 119,042,427 (GRCm39)	T178M	probably damaging	Het
Zswim6	T	C	13: 107,906,128 (GRCm39)		noncoding transcript	Het

Other mutations in Il2ra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00824:Il2ra	APN	2	11,687,910 (GRCm39)	missense	probably benign	0.12
IGL01393:Il2ra	APN	2	11,687,865 (GRCm39)	missense	probably damaging	0.99
IGL01594:Il2ra	APN	2	11,685,207 (GRCm39)	missense	possibly damaging	0.85
IGL02519:Il2ra	APN	2	11,687,901 (GRCm39)	missense	possibly damaging	0.91
R0206:Il2ra	UTSW	2	11,686,828 (GRCm39)	splice site	probably benign
R0208:Il2ra	UTSW	2	11,686,828 (GRCm39)	splice site	probably benign
R0635:Il2ra	UTSW	2	11,685,177 (GRCm39)	missense	probably benign	0.38
R0666:Il2ra	UTSW	2	11,647,884 (GRCm39)	splice site	probably benign
R4732:Il2ra	UTSW	2	11,681,731 (GRCm39)	missense	probably benign
R4733:Il2ra	UTSW	2	11,681,731 (GRCm39)	missense	probably benign
R4959:Il2ra	UTSW	2	11,681,664 (GRCm39)	missense	possibly damaging	0.91
R5006:Il2ra	UTSW	2	11,679,157 (GRCm39)	missense	possibly damaging	0.83
R5899:Il2ra	UTSW	2	11,689,248 (GRCm39)	missense	probably benign
R6145:Il2ra	UTSW	2	11,685,057 (GRCm39)	missense	probably damaging	1.00
R6184:Il2ra	UTSW	2	11,652,790 (GRCm39)	intron	probably benign
R6449:Il2ra	UTSW	2	11,685,173 (GRCm39)	missense	probably benign
R6472:Il2ra	UTSW	2	11,686,780 (GRCm39)	missense	possibly damaging	0.91
R7300:Il2ra	UTSW	2	11,681,721 (GRCm39)	missense	not run
R7371:Il2ra	UTSW	2	11,647,831 (GRCm39)	missense	probably benign	0.07
R7855:Il2ra	UTSW	2	11,685,147 (GRCm39)	missense	possibly damaging	0.65
R7922:Il2ra	UTSW	2	11,679,177 (GRCm39)	missense	possibly damaging	0.93
R7963:Il2ra	UTSW	2	11,679,235 (GRCm39)	missense	probably benign	0.05
R8338:Il2ra	UTSW	2	11,687,885 (GRCm39)	missense	probably benign
R9193:Il2ra	UTSW	2	11,689,202 (GRCm39)	missense	possibly damaging	0.85
R9418:Il2ra	UTSW	2	11,689,203 (GRCm39)	missense	possibly damaging	0.93
R9634:Il2ra	UTSW	2	11,685,227 (GRCm39)	nonsense	probably null
R9789:Il2ra	UTSW	2	11,685,161 (GRCm39)	missense	probably benign	0.00
Z1176:Il2ra	UTSW	2	11,686,742 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCAGCACAGATATGTCTCTG -3'
(R):5'- AGGAGTTGAATTCTTATGCTCCC -3'

Sequencing Primer
(F):5'- ACAGATATGTCTCTGGGCACC -3'
(R):5'- GCGAGCCTGCCAACAATCAG -3'

Posted On

2016-10-06