Incidental Mutation 'IGL02519:Il2ra'
ID 296869
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il2ra
Ensembl Gene ENSMUSG00000026770
Gene Name interleukin 2 receptor, alpha chain
Synonyms CD25, Ly-43, Il2r, IL-2R alpha chain
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02519
Quality Score
Status
Chromosome 2
Chromosomal Location 11642807-11693193 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 11683090 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 227 (E227A)
Ref Sequence ENSEMBL: ENSMUSP00000028111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028111]
AlphaFold P01590
Predicted Effect possibly damaging
Transcript: ENSMUST00000028111
AA Change: E227A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028111
Gene: ENSMUSG00000026770
AA Change: E227A

DomainStartEndE-ValueType
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,895,315 E370G probably damaging Het
Adamts13 A T 2: 26,978,675 I224F probably damaging Het
Adamts17 A G 7: 67,124,973 T947A possibly damaging Het
Ankfn1 T C 11: 89,405,678 E75G probably benign Het
Arfgef1 G T 1: 10,209,668 H225N probably benign Het
Arsi A G 18: 60,917,067 S341G probably damaging Het
Aspm T A 1: 139,461,927 probably benign Het
Cacna1i C T 15: 80,361,874 R490* probably null Het
Cd33 C T 7: 43,528,729 probably benign Het
Clmn T C 12: 104,791,853 I135V probably damaging Het
Crebbp A T 16: 4,101,593 N795K possibly damaging Het
Dhps A G 8: 85,073,299 D126G probably damaging Het
Dlg2 G T 7: 91,940,115 V196L possibly damaging Het
Dsg1c T A 18: 20,283,733 I897N probably damaging Het
Dzip3 A G 16: 48,928,396 L1059S probably damaging Het
Epha7 A T 4: 28,821,494 T220S possibly damaging Het
Fgf17 A G 14: 70,638,528 I88T probably damaging Het
G3bp2 A G 5: 92,066,524 V137A possibly damaging Het
Gnal G A 18: 67,088,765 E80K unknown Het
Hectd1 T G 12: 51,769,111 S1393R probably damaging Het
Igsf6 T C 7: 121,068,273 I173M possibly damaging Het
Iqcf6 C T 9: 106,627,280 R48C probably damaging Het
Kdm3a G T 6: 71,611,586 Q480K probably benign Het
Larp4b C A 13: 9,158,580 A423E probably benign Het
Magea6 T C X: 154,924,745 D105G probably benign Het
Nop53 C A 7: 15,939,272 probably benign Het
Olfr307 A T 7: 86,335,581 F272I probably benign Het
Olfr338 T C 2: 36,377,313 L179P possibly damaging Het
Pgghg A G 7: 140,944,981 T352A possibly damaging Het
Setd2 T C 9: 110,553,116 S1464P probably damaging Het
Sspo C A 6: 48,484,828 T3609N probably damaging Het
Sulf1 T A 1: 12,838,363 Y533* probably null Het
Thsd7b A G 1: 129,613,195 S346G probably benign Het
Tmem161b T A 13: 84,294,744 L261Q probably damaging Het
Tmem63b T A 17: 45,665,208 T493S possibly damaging Het
Tmprss11d A T 5: 86,306,305 C214S probably damaging Het
Trim16 A T 11: 62,834,079 E144V possibly damaging Het
Unc13d T C 11: 116,070,533 Y356C probably damaging Het
Urgcp A T 11: 5,717,745 F198I probably benign Het
Vmn2r111 T C 17: 22,548,339 I726V possibly damaging Het
Zzz3 A T 3: 152,427,390 E28D probably damaging Het
Other mutations in Il2ra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00824:Il2ra APN 2 11683099 missense probably benign 0.12
IGL01393:Il2ra APN 2 11683054 missense probably damaging 0.99
IGL01594:Il2ra APN 2 11680396 missense possibly damaging 0.85
R0206:Il2ra UTSW 2 11682017 splice site probably benign
R0208:Il2ra UTSW 2 11682017 splice site probably benign
R0635:Il2ra UTSW 2 11680366 missense probably benign 0.38
R0666:Il2ra UTSW 2 11643073 splice site probably benign
R4732:Il2ra UTSW 2 11676920 missense probably benign
R4733:Il2ra UTSW 2 11676920 missense probably benign
R4959:Il2ra UTSW 2 11676853 missense possibly damaging 0.91
R5006:Il2ra UTSW 2 11674346 missense possibly damaging 0.83
R5531:Il2ra UTSW 2 11676892 missense possibly damaging 0.91
R5899:Il2ra UTSW 2 11684437 missense probably benign
R6145:Il2ra UTSW 2 11680246 missense probably damaging 1.00
R6184:Il2ra UTSW 2 11647979 intron probably benign
R6449:Il2ra UTSW 2 11680362 missense probably benign
R6472:Il2ra UTSW 2 11681969 missense possibly damaging 0.91
R7300:Il2ra UTSW 2 11676910 missense not run
R7371:Il2ra UTSW 2 11643020 missense probably benign 0.07
R7855:Il2ra UTSW 2 11680336 missense possibly damaging 0.65
R7922:Il2ra UTSW 2 11674366 missense possibly damaging 0.93
R7963:Il2ra UTSW 2 11674424 missense probably benign 0.05
R8338:Il2ra UTSW 2 11683074 missense probably benign
R9193:Il2ra UTSW 2 11684391 missense possibly damaging 0.85
R9418:Il2ra UTSW 2 11684392 missense possibly damaging 0.93
Z1176:Il2ra UTSW 2 11681931 missense probably damaging 1.00
Posted On 2015-04-16