Incidental Mutation 'R7300:Il2ra'
ID |
566905 |
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 |
045404-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7300 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
11647618-11698004 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 11681721 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 109
(T109A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028111
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028111]
|
AlphaFold |
P01590 |
Predicted Effect |
not run
Transcript: ENSMUST00000028111
AA Change: T109A
|
SMART Domains |
Protein: ENSMUSP00000028111 Gene: ENSMUSG00000026770 AA Change: T109A
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
94% (45/48) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actmap |
G |
A |
7: 26,900,548 (GRCm39) |
A176T |
probably damaging |
Het |
Adgrd1 |
T |
C |
5: 129,174,411 (GRCm39) |
|
probably null |
Het |
Atr |
T |
C |
9: 95,747,423 (GRCm39) |
I235T |
probably benign |
Het |
Bpifb5 |
A |
G |
2: 154,070,066 (GRCm39) |
E172G |
possibly damaging |
Het |
Btbd2 |
A |
T |
10: 80,480,100 (GRCm39) |
I420N |
probably damaging |
Het |
Ccdc141 |
G |
A |
2: 76,845,038 (GRCm39) |
T1343I |
probably benign |
Het |
Cd59b |
A |
T |
2: 103,914,795 (GRCm39) |
K64N |
possibly damaging |
Het |
Cd63 |
A |
G |
10: 128,748,034 (GRCm39) |
N144S |
probably benign |
Het |
Cip2a |
A |
G |
16: 48,834,217 (GRCm39) |
K631E |
probably damaging |
Het |
Col4a4 |
C |
T |
1: 82,464,361 (GRCm39) |
R989Q |
unknown |
Het |
Cyp4a31 |
A |
G |
4: 115,427,468 (GRCm39) |
T225A |
probably benign |
Het |
Dnah1 |
T |
G |
14: 30,991,798 (GRCm39) |
E3068A |
probably benign |
Het |
Fpgt |
C |
T |
3: 154,792,612 (GRCm39) |
V472I |
probably damaging |
Het |
Gm4779 |
TCGGGGCCGGGGCCGGGGCCG |
TCGGGGCCGGGGCCGGGGCCGGGGCCG |
X: 100,837,777 (GRCm39) |
|
probably benign |
Het |
Homer3 |
T |
C |
8: 70,737,953 (GRCm39) |
M1T |
probably null |
Het |
Ighv1-4 |
T |
C |
12: 114,450,908 (GRCm39) |
I67V |
probably benign |
Het |
Il17ra |
A |
G |
6: 120,459,063 (GRCm39) |
D738G |
probably benign |
Het |
Itgb6 |
T |
C |
2: 60,435,650 (GRCm39) |
D700G |
probably benign |
Het |
Krt31 |
T |
C |
11: 99,938,612 (GRCm39) |
E327G |
probably damaging |
Het |
Large1 |
A |
C |
8: 73,564,224 (GRCm39) |
L514R |
probably damaging |
Het |
Map3k8 |
C |
T |
18: 4,349,076 (GRCm39) |
V81M |
probably damaging |
Het |
Mstn |
T |
C |
1: 53,103,239 (GRCm39) |
S192P |
probably benign |
Het |
Olfml3 |
T |
C |
3: 103,643,176 (GRCm39) |
K402E |
probably damaging |
Het |
Or13a27 |
A |
T |
7: 139,925,268 (GRCm39) |
N211K |
probably damaging |
Het |
Or2n1c |
A |
C |
17: 38,519,588 (GRCm39) |
T151P |
possibly damaging |
Het |
Or2y1c |
C |
T |
11: 49,361,473 (GRCm39) |
T165I |
probably benign |
Het |
Or52i2 |
A |
G |
7: 102,319,417 (GRCm39) |
S97G |
probably benign |
Het |
Or7g17 |
T |
C |
9: 18,768,530 (GRCm39) |
I194T |
not run |
Het |
Or8k25 |
T |
C |
2: 86,244,330 (GRCm39) |
E22G |
probably null |
Het |
Pde4a |
T |
C |
9: 21,117,618 (GRCm39) |
S627P |
probably damaging |
Het |
Pdxdc1 |
A |
G |
16: 13,697,374 (GRCm39) |
I102T |
probably damaging |
Het |
Phldb2 |
A |
G |
16: 45,645,925 (GRCm39) |
S174P |
probably damaging |
Het |
Pla2g4e |
C |
T |
2: 120,021,680 (GRCm39) |
V143I |
probably damaging |
Het |
Pou4f2 |
C |
T |
8: 79,162,735 (GRCm39) |
|
probably null |
Het |
Ppl |
C |
T |
16: 4,920,235 (GRCm39) |
V387M |
possibly damaging |
Het |
Pramel43 |
A |
T |
5: 94,760,655 (GRCm39) |
D340E |
probably benign |
Het |
Rarg |
A |
T |
15: 102,160,852 (GRCm39) |
|
probably null |
Het |
Ryr1 |
T |
C |
7: 28,758,936 (GRCm39) |
Y3414C |
probably damaging |
Het |
Serpinb8 |
T |
A |
1: 107,535,053 (GRCm39) |
*375K |
probably null |
Het |
Sim1 |
C |
T |
10: 50,785,614 (GRCm39) |
H228Y |
probably benign |
Het |
Spag4 |
A |
T |
2: 155,907,541 (GRCm39) |
H87L |
probably benign |
Het |
Ttc17 |
A |
T |
2: 94,205,479 (GRCm39) |
L289Q |
probably damaging |
Het |
Ubac2 |
T |
C |
14: 122,142,586 (GRCm39) |
L28P |
probably damaging |
Het |
Vmn2r31 |
C |
A |
7: 7,387,775 (GRCm39) |
A599S |
possibly damaging |
Het |
Vps13c |
T |
C |
9: 67,847,826 (GRCm39) |
V2196A |
probably benign |
Het |
Zswim5 |
A |
T |
4: 116,833,102 (GRCm39) |
I612F |
probably damaging |
Het |
Zzef1 |
T |
A |
11: 72,765,830 (GRCm39) |
H1452Q |
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 |
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 |
|
Posted On |
2019-06-26 |