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 |
IL-2R alpha chain, CD25, Il2r, Ly-43 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02519
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
11647618-11698004 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 11687901 bp (GRCm39)
|
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
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts13 |
A |
T |
2: 26,868,687 (GRCm39) |
I224F |
probably damaging |
Het |
Adamts17 |
A |
G |
7: 66,774,721 (GRCm39) |
T947A |
possibly damaging |
Het |
Ankfn1 |
T |
C |
11: 89,296,504 (GRCm39) |
E75G |
probably benign |
Het |
Arfgef1 |
G |
T |
1: 10,279,893 (GRCm39) |
H225N |
probably benign |
Het |
Arsi |
A |
G |
18: 61,050,139 (GRCm39) |
S341G |
probably damaging |
Het |
Aspm |
T |
A |
1: 139,389,665 (GRCm39) |
|
probably benign |
Het |
Bltp1 |
A |
G |
3: 36,949,464 (GRCm39) |
E370G |
probably damaging |
Het |
Cacna1i |
C |
T |
15: 80,246,075 (GRCm39) |
R490* |
probably null |
Het |
Cd33 |
C |
T |
7: 43,178,153 (GRCm39) |
|
probably benign |
Het |
Clmn |
T |
C |
12: 104,758,112 (GRCm39) |
I135V |
probably damaging |
Het |
Crebbp |
A |
T |
16: 3,919,457 (GRCm39) |
N795K |
possibly damaging |
Het |
Dhps |
A |
G |
8: 85,799,928 (GRCm39) |
D126G |
probably damaging |
Het |
Dlg2 |
G |
T |
7: 91,589,323 (GRCm39) |
V196L |
possibly damaging |
Het |
Dsg1c |
T |
A |
18: 20,416,790 (GRCm39) |
I897N |
probably damaging |
Het |
Dzip3 |
A |
G |
16: 48,748,759 (GRCm39) |
L1059S |
probably damaging |
Het |
Epha7 |
A |
T |
4: 28,821,494 (GRCm39) |
T220S |
possibly damaging |
Het |
Fgf17 |
A |
G |
14: 70,875,968 (GRCm39) |
I88T |
probably damaging |
Het |
G3bp2 |
A |
G |
5: 92,214,383 (GRCm39) |
V137A |
possibly damaging |
Het |
Gnal |
G |
A |
18: 67,221,836 (GRCm39) |
E80K |
unknown |
Het |
Hectd1 |
T |
G |
12: 51,815,894 (GRCm39) |
S1393R |
probably damaging |
Het |
Igsf6 |
T |
C |
7: 120,667,496 (GRCm39) |
I173M |
possibly damaging |
Het |
Iqcf6 |
C |
T |
9: 106,504,479 (GRCm39) |
R48C |
probably damaging |
Het |
Kdm3a |
G |
T |
6: 71,588,570 (GRCm39) |
Q480K |
probably benign |
Het |
Larp4b |
C |
A |
13: 9,208,616 (GRCm39) |
A423E |
probably benign |
Het |
Magea6 |
T |
C |
X: 153,707,741 (GRCm39) |
D105G |
probably benign |
Het |
Nop53 |
C |
A |
7: 15,673,197 (GRCm39) |
|
probably benign |
Het |
Or14a260 |
A |
T |
7: 85,984,789 (GRCm39) |
F272I |
probably benign |
Het |
Or1j10 |
T |
C |
2: 36,267,325 (GRCm39) |
L179P |
possibly damaging |
Het |
Pgghg |
A |
G |
7: 140,524,894 (GRCm39) |
T352A |
possibly damaging |
Het |
Setd2 |
T |
C |
9: 110,382,184 (GRCm39) |
S1464P |
probably damaging |
Het |
Sspo |
C |
A |
6: 48,461,762 (GRCm39) |
T3609N |
probably damaging |
Het |
Sulf1 |
T |
A |
1: 12,908,587 (GRCm39) |
Y533* |
probably null |
Het |
Thsd7b |
A |
G |
1: 129,540,932 (GRCm39) |
S346G |
probably benign |
Het |
Tmem161b |
T |
A |
13: 84,442,863 (GRCm39) |
L261Q |
probably damaging |
Het |
Tmem63b |
T |
A |
17: 45,976,134 (GRCm39) |
T493S |
possibly damaging |
Het |
Tmprss11d |
A |
T |
5: 86,454,164 (GRCm39) |
C214S |
probably damaging |
Het |
Trim16 |
A |
T |
11: 62,724,905 (GRCm39) |
E144V |
possibly damaging |
Het |
Unc13d |
T |
C |
11: 115,961,359 (GRCm39) |
Y356C |
probably damaging |
Het |
Urgcp |
A |
T |
11: 5,667,745 (GRCm39) |
F198I |
probably benign |
Het |
Vmn2r111 |
T |
C |
17: 22,767,320 (GRCm39) |
I726V |
possibly damaging |
Het |
Zzz3 |
A |
T |
3: 152,133,027 (GRCm39) |
E28D |
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 |
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 |
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 |
2015-04-16 |