Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01393:Il2ra'

79272

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Il2ra

Ensembl Gene

ENSMUSG00000026770

Gene Name

interleukin 2 receptor, alpha chain

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01393

Quality Score

Status

Chromosome

Chromosomal Location

11647618-11698004 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11687865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 215 (D215G)

Ref Sequence

ENSEMBL: ENSMUSP00000028111 (fasta)

Gene Model

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

AlphaFold

P01590

Predicted Effect

probably damaging
Transcript: ENSMUST00000028111
AA Change: D215G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028111
Gene: ENSMUSG00000026770
AA Change: D215G

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: ENSMUST00000193001

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195427

Coding Region Coverage

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	G	A	14: 35,818,379 (GRCm39)	V126I	possibly damaging	Het
A630073D07Rik	G	T	6: 132,603,577 (GRCm39)	Q60K	unknown	Het
Alpk2	A	G	18: 65,440,779 (GRCm39)	S205P	possibly damaging	Het
Ang4	T	A	14: 52,001,670 (GRCm39)	I93L	probably benign	Het
Arpin	A	G	7: 79,581,588 (GRCm39)	V44A	possibly damaging	Het
Atxn3	A	T	12: 101,899,306 (GRCm39)	C263*	probably null	Het
Cd209f	T	C	8: 4,153,154 (GRCm39)	N260S	probably damaging	Het
Cdh20	A	G	1: 104,861,969 (GRCm39)	R50G	probably benign	Het
Cracd	T	C	5: 77,006,818 (GRCm39)	S1060P	unknown	Het
Csmd3	C	T	15: 48,320,995 (GRCm39)	V272I	possibly damaging	Het
Dst	A	T	1: 34,206,706 (GRCm39)	Y1136F	possibly damaging	Het
Fam20c	A	G	5: 138,793,026 (GRCm39)	Y420C	probably damaging	Het
Fancd2	T	A	6: 113,554,321 (GRCm39)		probably benign	Het
Fat2	T	C	11: 55,160,135 (GRCm39)	D3326G	probably benign	Het
Filip1l	A	G	16: 57,392,586 (GRCm39)	N820S	probably damaging	Het
Gm26566	G	A	4: 88,640,581 (GRCm39)		probably benign	Het
Gm4792	A	G	10: 94,134,304 (GRCm39)	L22P	unknown	Het
Gpat2	A	G	2: 127,274,571 (GRCm39)	E386G	probably damaging	Het
Grm3	T	C	5: 9,639,856 (GRCm39)	D63G	probably benign	Het
Hdc	A	G	2: 126,436,581 (GRCm39)	V430A	probably benign	Het
Hnf4a	T	C	2: 163,393,492 (GRCm39)		probably benign	Het
Kctd3	T	C	1: 188,732,487 (GRCm39)	I74V	probably benign	Het
Kctd5	A	T	17: 24,278,292 (GRCm39)		probably null	Het
Lrsam1	A	T	2: 32,845,185 (GRCm39)		probably benign	Het
Mblac1	A	G	5: 138,193,036 (GRCm39)	N126S	possibly damaging	Het
Mmrn1	T	A	6: 60,937,692 (GRCm39)		probably benign	Het
Mpp3	A	T	11: 101,916,304 (GRCm39)	L16Q	probably damaging	Het
Mrgprb1	C	A	7: 48,097,754 (GRCm39)	A53S	possibly damaging	Het
Nbea	C	A	3: 55,912,729 (GRCm39)	M1019I	probably benign	Het
Nlrp5	A	G	7: 23,103,599 (GRCm39)	K22R	probably null	Het
Or1j4	G	A	2: 36,740,553 (GRCm39)	R165Q	probably benign	Het
Or2ag18	C	T	7: 106,405,642 (GRCm39)	G9E	probably benign	Het
Or4k48	A	G	2: 111,475,601 (GRCm39)	V247A	probably damaging	Het
Pard6b	T	A	2: 167,929,298 (GRCm39)	S35T	probably benign	Het
Peli1	T	C	11: 21,097,400 (GRCm39)	V215A	probably benign	Het
Pkp4	A	T	2: 59,178,269 (GRCm39)	D1003V	probably damaging	Het
Pot1a	G	A	6: 25,744,630 (GRCm39)	R625*	probably null	Het
Ppp1r16a	T	C	15: 76,578,744 (GRCm39)	S483P	probably benign	Het
Prpf8	C	A	11: 75,385,121 (GRCm39)	A794D	possibly damaging	Het
Prrg3	T	C	X: 71,011,123 (GRCm39)	V210A	probably benign	Het
Rev1	A	G	1: 38,131,144 (GRCm39)	V168A	probably damaging	Het
Sez6l	G	T	5: 112,586,261 (GRCm39)		probably benign	Het
Spag17	A	G	3: 99,934,926 (GRCm39)	T711A	possibly damaging	Het
Spice1	A	G	16: 44,186,993 (GRCm39)	I163M	probably benign	Het
Tex13c1	C	T	X: 42,680,233 (GRCm39)	A66V	probably damaging	Het
Tmem132d	A	T	5: 127,861,702 (GRCm39)	S806R	probably benign	Het
Tnc	A	G	4: 63,932,291 (GRCm39)		probably benign	Het
Tpbg	T	A	9: 85,726,145 (GRCm39)	V38E	unknown	Het
Unc13c	T	A	9: 73,447,552 (GRCm39)	I1883F	probably benign	Het
Vmn2r61	A	C	7: 41,916,258 (GRCm39)	Q290H	probably benign	Het
Vps39	A	G	2: 120,180,719 (GRCm39)		probably benign	Het
Zfp369	T	C	13: 65,442,288 (GRCm39)	V294A	possibly damaging	Het
Zfp821	T	A	8: 110,436,110 (GRCm39)		probably benign	Het
Zfp941	C	T	7: 140,391,841 (GRCm39)	G506E	probably damaging	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
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
R5531:Il2ra	UTSW	2	11,681,703 (GRCm39)	missense	possibly damaging	0.91
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

Posted On

2013-11-05