Incidental Mutation 'IGL01518:Il2'
| ID |
89382 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Il2
|
| Ensembl Gene |
ENSMUSG00000027720 |
| Gene Name |
interleukin 2 |
| Synonyms |
IL-2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01518
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
37174862-37180103 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37177156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 127
(T127A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029275]
|
| AlphaFold |
P04351 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029275
AA Change: T127A
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000029275
Gene: ENSMUSG00000027720
AA Change: T127A
| Domain | Start | End | E-Value | Type |
|---|
|
IL2
|
1 |
168 |
4.75e-134 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147773
|
| SMART Domains |
Protein: ENSMUSP00000121015
Gene: ENSMUSG00000027719
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:A_deamin
|
1 |
176 |
1.3e-49 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a secreted cytokine that is important for the proliferation of T and B lymphocytes. The receptor of this cytokine is a heterotrimeric protein complex whose gamma chain is also shared by interleukin 4 (IL4) and interleukin 7 (IL7). The expression of this gene in mature thymocytes is monoallelic, which represents an unusual regulatory mode for controlling the precise expression of a single gene. The targeted disruption of a similar gene in mice leads to ulcerative colitis-like disease, which suggests an essential role of this gene in the immune response to antigenic stimuli. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants develop adult onset autoimmune disease, with 50% mortality by 9 weeks due to hemolytic anemia. Survivors develop inflammatory bowl disease/colitis. Immune system dysregulation and CD4+ T-cell overproduction may be responsible. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447F04Rik |
A |
C |
X: 65,347,660 (GRCm39) |
V16G |
unknown |
Het |
| 4933427I04Rik |
A |
T |
4: 123,754,494 (GRCm39) |
E136V |
probably benign |
Het |
| Aadac |
A |
G |
3: 59,943,320 (GRCm39) |
D75G |
probably damaging |
Het |
| Arfgap1 |
T |
A |
2: 180,614,518 (GRCm39) |
S125T |
probably benign |
Het |
| Atxn2 |
G |
T |
5: 121,949,042 (GRCm39) |
A813S |
probably damaging |
Het |
| Cadps |
C |
A |
14: 12,522,352 (GRCm38) |
S604I |
probably damaging |
Het |
| Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
| Col4a4 |
T |
A |
1: 82,433,480 (GRCm39) |
M1488L |
unknown |
Het |
| Fndc3c1 |
T |
C |
X: 105,475,029 (GRCm39) |
N941S |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,244,305 (GRCm39) |
Y1172C |
possibly damaging |
Het |
| Gm1527 |
T |
C |
3: 28,949,737 (GRCm39) |
|
probably benign |
Het |
| Hsf2 |
T |
C |
10: 57,388,230 (GRCm39) |
L458P |
probably damaging |
Het |
| Inpp5e |
A |
G |
2: 26,287,946 (GRCm39) |
Y617H |
probably damaging |
Het |
| Isoc2b |
G |
A |
7: 4,853,763 (GRCm39) |
S137F |
probably damaging |
Het |
| Map2 |
C |
T |
1: 66,464,490 (GRCm39) |
P241S |
probably damaging |
Het |
| Mfsd6 |
C |
A |
1: 52,748,481 (GRCm39) |
R128L |
probably damaging |
Het |
| Mrnip |
A |
G |
11: 50,088,462 (GRCm39) |
T153A |
probably damaging |
Het |
| Or4x6 |
A |
G |
2: 89,949,315 (GRCm39) |
F209S |
possibly damaging |
Het |
| Or8d1 |
A |
T |
9: 38,767,095 (GRCm39) |
M246L |
probably benign |
Het |
| Pi4ka |
T |
C |
16: 17,098,599 (GRCm39) |
N2022S |
probably benign |
Het |
| Scrt2 |
C |
A |
2: 151,935,560 (GRCm39) |
R238S |
probably damaging |
Het |
| St3gal6 |
T |
A |
16: 58,305,138 (GRCm39) |
D108V |
probably benign |
Het |
| Tmem132b |
C |
T |
5: 125,855,855 (GRCm39) |
T529M |
probably damaging |
Het |
| Trappc11 |
T |
C |
8: 47,954,904 (GRCm39) |
|
probably null |
Het |
| Tspyl1 |
T |
A |
10: 34,159,195 (GRCm39) |
S307T |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,131,982 (GRCm39) |
S735G |
probably benign |
Het |
| Wnk2 |
T |
C |
13: 49,221,668 (GRCm39) |
M1186V |
possibly damaging |
Het |
|
| Other mutations in Il2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02047:Il2
|
APN |
3 |
37,180,000 (GRCm39) |
missense |
probably benign |
0.01 |
|
FR4304:Il2
|
UTSW |
3 |
37,179,975 (GRCm39) |
unclassified |
probably benign |
|
|
FR4737:Il2
|
UTSW |
3 |
37,179,977 (GRCm39) |
unclassified |
probably benign |
|
|
FR4737:Il2
|
UTSW |
3 |
37,179,913 (GRCm39) |
unclassified |
probably benign |
|
|
FR4976:Il2
|
UTSW |
3 |
37,179,978 (GRCm39) |
unclassified |
probably benign |
|
|
R8805:Il2
|
UTSW |
3 |
37,177,282 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9287:Il2
|
UTSW |
3 |
37,179,988 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF001:Il2
|
UTSW |
3 |
37,179,911 (GRCm39) |
unclassified |
probably benign |
|
|
RF023:Il2
|
UTSW |
3 |
37,179,969 (GRCm39) |
unclassified |
probably benign |
|
|
RF029:Il2
|
UTSW |
3 |
37,179,976 (GRCm39) |
unclassified |
probably benign |
|
|
RF030:Il2
|
UTSW |
3 |
37,179,991 (GRCm39) |
unclassified |
probably benign |
|
|
RF030:Il2
|
UTSW |
3 |
37,179,976 (GRCm39) |
unclassified |
probably benign |
|
|
RF033:Il2
|
UTSW |
3 |
37,179,991 (GRCm39) |
unclassified |
probably benign |
|
|
RF033:Il2
|
UTSW |
3 |
37,179,913 (GRCm39) |
unclassified |
probably benign |
|
|
RF036:Il2
|
UTSW |
3 |
37,179,976 (GRCm39) |
unclassified |
probably benign |
|
|
RF038:Il2
|
UTSW |
3 |
37,179,970 (GRCm39) |
nonsense |
probably null |
|
|
RF039:Il2
|
UTSW |
3 |
37,179,991 (GRCm39) |
unclassified |
probably benign |
|
|
RF041:Il2
|
UTSW |
3 |
37,179,991 (GRCm39) |
unclassified |
probably benign |
|
|
RF043:Il2
|
UTSW |
3 |
37,179,991 (GRCm39) |
unclassified |
probably benign |
|
|
RF051:Il2
|
UTSW |
3 |
37,179,990 (GRCm39) |
unclassified |
probably benign |
|
|
RF058:Il2
|
UTSW |
3 |
37,179,970 (GRCm39) |
unclassified |
probably benign |
|
|
RF058:Il2
|
UTSW |
3 |
37,179,966 (GRCm39) |
unclassified |
probably benign |
|
|
RF061:Il2
|
UTSW |
3 |
37,179,990 (GRCm39) |
unclassified |
probably benign |
|
|
RF064:Il2
|
UTSW |
3 |
37,179,913 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2013-12-03 |
Incidental Mutation