Mutagenetix > Incidental Mutation

Incidental Mutation 'R7371:Il2ra'

572052

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

045454-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7371 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11647618-11698004 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11647831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 7 (M7K)

Ref Sequence

ENSEMBL: ENSMUSP00000028111 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028111] [ENSMUST00000150890]

AlphaFold

P01590

Predicted Effect

probably benign
Transcript: ENSMUST00000028111
AA Change: M7K

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000028111
Gene: ENSMUSG00000026770
AA Change: M7K

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

unknown
Transcript: ENSMUST00000150890
AA Change: M7K

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (88/90)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	A	C	12: 81,607,064 (GRCm39)	S233A	probably damaging	Het
Adcy8	T	A	15: 64,571,067 (GRCm39)	H1222L	probably benign	Het
Aftph	T	C	11: 20,676,836 (GRCm39)	T258A	probably benign	Het
Ano3	A	C	2: 110,715,194 (GRCm39)		probably null	Het
Aox4	A	G	1: 58,303,013 (GRCm39)	D1148G	probably damaging	Het
Bcl11b	A	T	12: 107,955,750 (GRCm39)	I133N	probably damaging	Het
Borcs7	T	A	19: 46,688,057 (GRCm39)	D67E	probably damaging	Het
Cacna2d4	T	A	6: 119,285,670 (GRCm39)	I774N	probably benign	Het
Catsperd	A	T	17: 56,957,801 (GRCm39)	Y236F	probably benign	Het
Cblc	T	C	7: 19,526,828 (GRCm39)	S135G	probably benign	Het
Ccdc168	C	A	1: 44,100,537 (GRCm39)	R187L	probably benign	Het
Ccdc178	A	G	18: 22,263,195 (GRCm39)	V138A	probably benign	Het
Cd300ld	C	T	11: 114,878,186 (GRCm39)	G109R	probably damaging	Het
Cdh3	T	A	8: 107,279,109 (GRCm39)	N690K	probably damaging	Het
Ceacam1	T	A	7: 25,174,145 (GRCm39)	Y170F	possibly damaging	Het
Ceacam9	A	C	7: 16,457,652 (GRCm39)	H55P	possibly damaging	Het
Celsr1	C	T	15: 85,914,875 (GRCm39)	V1033I	possibly damaging	Het
Cep97	T	C	16: 55,725,683 (GRCm39)	S807G	probably benign	Het
Ces1b	A	G	8: 93,783,982 (GRCm39)		probably null	Het
Chn1	T	C	2: 73,510,234 (GRCm39)	T92A	probably damaging	Het
Cimap1b	C	A	15: 89,263,365 (GRCm39)	W6L	probably damaging	Het
Cngb3	A	C	4: 19,425,575 (GRCm39)	Y461S	possibly damaging	Het
Col24a1	A	G	3: 145,049,459 (GRCm39)	N629S	probably benign	Het
Cpd	T	C	11: 76,737,437 (GRCm39)	D119G	probably benign	Het
Cpsf1	T	C	15: 76,484,775 (GRCm39)	D594G	probably damaging	Het
Cpsf7	C	T	19: 10,509,203 (GRCm39)	A38V	probably benign	Het
Cry1	A	T	10: 84,983,783 (GRCm39)	H224Q	probably benign	Het
Ctr9	T	A	7: 110,633,014 (GRCm39)	D87E	probably damaging	Het
Cyp2u1	T	A	3: 131,087,144 (GRCm39)	N479I	probably benign	Het
Dip2c	A	G	13: 9,642,785 (GRCm39)	N672D	probably benign	Het
Dnah14	T	C	1: 181,454,450 (GRCm39)	V820A	probably benign	Het
Efnb2	T	C	8: 8,710,524 (GRCm39)	I31V	probably benign	Het
Fgb	T	C	3: 82,953,359 (GRCm39)	Y137C	probably damaging	Het
Fkbp15	A	G	4: 62,239,293 (GRCm39)	V604A	possibly damaging	Het
Flii	A	T	11: 60,609,090 (GRCm39)	N682K	probably benign	Het
Fmo3	A	G	1: 162,781,796 (GRCm39)	L519P	possibly damaging	Het
Gapvd1	T	A	2: 34,607,385 (GRCm39)	M538L	probably benign	Het
Gbp11	A	G	5: 105,489,971 (GRCm39)	V69A	probably benign	Het
Ggn	T	A	7: 28,871,605 (GRCm39)	D364E	probably benign	Het
Gm10377	G	A	14: 42,614,853 (GRCm39)	P171S	probably benign	Het
Gramd4	C	T	15: 86,019,607 (GRCm39)	A625V	probably benign	Het
Iqgap2	A	T	13: 95,836,846 (GRCm39)		probably null	Het
Itgb4	T	C	11: 115,888,906 (GRCm39)	V1083A	probably benign	Het
Kcnma1	G	A	14: 23,544,638 (GRCm39)	A573V	possibly damaging	Het
Kirrel1	T	C	3: 86,995,729 (GRCm39)	T402A	probably benign	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Krt4	T	A	15: 101,828,823 (GRCm39)	Q347L	probably damaging	Het
Map3k21	T	A	8: 126,661,804 (GRCm39)	I467N	probably damaging	Het
Mastl	A	T	2: 23,030,585 (GRCm39)	S195T	probably damaging	Het
Mis18bp1	G	T	12: 65,205,368 (GRCm39)	T268K	probably benign	Het
Mmp17	G	A	5: 129,682,836 (GRCm39)	G492S	probably null	Het
Myc	T	A	15: 61,860,031 (GRCm39)	S236T	probably damaging	Het
Nlrp5	A	T	7: 23,117,848 (GRCm39)	E524V	probably damaging	Het
Nopchap1	T	C	10: 83,201,680 (GRCm39)	V151A	probably benign	Het
Npr3	T	A	15: 11,845,376 (GRCm39)		probably null	Het
Oog4	T	C	4: 143,165,346 (GRCm39)	N267S	possibly damaging	Het
Or2a12	T	A	6: 42,904,469 (GRCm39)	Y101*	probably null	Het
Or4l15	A	T	14: 50,198,563 (GRCm39)		probably null	Het
Or56a5	A	G	7: 104,793,086 (GRCm39)	I138T	possibly damaging	Het
Pde4dip	T	C	3: 97,664,587 (GRCm39)	E425G	probably benign	Het
Piwil4	A	C	9: 14,638,729 (GRCm39)	N312K	probably benign	Het
Pmepa1	A	G	2: 173,076,212 (GRCm39)	M47T	possibly damaging	Het
Potefam1	A	T	2: 111,023,826 (GRCm39)	S475T	unknown	Het
Prkcg	G	A	7: 3,368,069 (GRCm39)	G372D	probably benign	Het
Prune2	A	G	19: 17,096,734 (GRCm39)	H746R	probably benign	Het
Ptma	GGAAGAAG	GGAAGAAGAAG	1: 86,457,261 (GRCm39)		probably benign	Het
Rab3gap2	C	G	1: 184,983,265 (GRCm39)	A468G	probably damaging	Het
Ralb	A	G	1: 119,400,129 (GRCm39)	L123P		Het
Ralgapa2	G	A	2: 146,189,046 (GRCm39)	T1288I	probably benign	Het
Samd4b	C	A	7: 28,122,926 (GRCm39)	C44F	probably benign	Het
Satb1	C	A	17: 52,090,008 (GRCm39)	E280*	probably null	Het
Sec1	T	C	7: 45,328,034 (GRCm39)	T338A	probably damaging	Het
Sec16a	T	C	2: 26,331,734 (GRCm39)	T94A	probably benign	Het
Serpina1f	G	A	12: 103,656,086 (GRCm39)	R381W	probably damaging	Het
Sfswap	A	T	5: 129,620,305 (GRCm39)	T525S	probably benign	Het
Skor1	T	C	9: 63,054,169 (GRCm39)		probably null	Het
Spc24	A	G	9: 21,668,664 (GRCm39)	L111P	probably damaging	Het
St8sia2	T	C	7: 73,616,675 (GRCm39)	D121G	probably damaging	Het
Tanc2	A	G	11: 105,689,422 (GRCm39)	T195A	probably benign	Het
Tbc1d9	T	A	8: 83,997,890 (GRCm39)	I1149N	probably damaging	Het
Tph2	A	T	10: 114,987,016 (GRCm39)	L258Q	probably damaging	Het
Trpm3	A	T	19: 22,879,557 (GRCm39)	M781L	probably benign	Het
Ubap2	G	T	4: 41,195,779 (GRCm39)	P1005T	probably benign	Het
Upf2	A	G	2: 5,965,851 (GRCm39)	E157G	unknown	Het
Urb2	C	A	8: 124,755,008 (GRCm39)	D238E	probably benign	Het
Vipr1	T	C	9: 121,497,621 (GRCm39)	S380P	probably damaging	Het
Zc3h18	T	A	8: 123,139,760 (GRCm39)	S734T	unknown	Het
Zmym6	T	A	4: 126,998,106 (GRCm39)	Y381N	probably damaging	Het
Zscan4e	T	C	7: 11,041,251 (GRCm39)	K207R	probably benign	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
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
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'- TGAGCAGATCAGCCTAATGC -3'
(R):5'- ACCCTGGACAAGAGTTAGAACC -3'

Sequencing Primer
(F):5'- AGAACAACTCCTGGCTGTCATTG -3'
(R):5'- TGGACAAGAGTTAGAACCCATGATTC -3'

Posted On

2019-09-13