Incidental Mutation 'RF061:Il2'
| ID |
605402 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il2
|
| Ensembl Gene |
ENSMUSG00000027720 |
| Gene Name |
interleukin 2 |
| Synonyms |
IL-2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
RF061 (G1)
|
| Quality Score |
214.458 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
37174862-37180103 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
GGG to GGGGCTTGAAGTGGG
at 37179990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029275]
|
| AlphaFold |
P04351 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029275
|
| SMART Domains |
Protein: ENSMUSP00000029275
Gene: ENSMUSG00000027720
| 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 |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.7%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810004N23Rik |
ACTT |
ACTTACTT |
8: 125,566,570 (GRCm39) |
|
probably null |
Het |
| Abi3bp |
GCCCACGACCC |
GCCCACGACCCACGACCC |
16: 56,447,950 (GRCm39) |
|
probably null |
Het |
| Ankhd1 |
GGCGGC |
GGCGGCCGCGGC |
18: 36,693,974 (GRCm39) |
|
probably benign |
Het |
| Ankrd24 |
GAGGC |
GAGGCGGAGGCATAGGC |
10: 81,479,401 (GRCm39) |
|
probably null |
Het |
| Bpifb4 |
A |
ACCTCCAC |
2: 153,799,048 (GRCm39) |
|
probably benign |
Het |
| Chga |
CAG |
CAGAAG |
12: 102,527,672 (GRCm39) |
|
probably benign |
Het |
| Chga |
G |
GCAC |
12: 102,527,686 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
ACACTGCCCAGGGA |
ACACTGCCCAGGGATGTGACAGACGCACTGCCCAGGGA |
9: 86,922,488 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
CAGTTCCTACCTCGTT |
CAGTTCCTACCTCGTTTTGGGGGCGGAGCAAAGTTCCTACCTCGTT |
9: 20,821,426 (GRCm39) |
|
probably null |
Het |
| Fbrsl1 |
GTGCTGGTGCGT |
GTGCTGGTGCGTCTGCTGGTGCGT |
5: 110,525,997 (GRCm39) |
|
probably benign |
Het |
| Gabre |
GCTCCG |
GCTCCGACTCCG |
X: 71,313,654 (GRCm39) |
|
probably benign |
Het |
| Hsdl2 |
AG |
AGCAGCAGCCACAGCTGCTG |
4: 59,610,657 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CCACCACAGC |
CCACCACAGCCACAGACACCACAGC |
1: 83,020,002 (GRCm39) |
|
probably benign |
Het |
| Lrch1 |
GCTGGTGGT |
G |
14: 75,184,995 (GRCm39) |
|
probably null |
Het |
| Lrch1 |
GGTGGTGTTG |
GG |
14: 75,185,007 (GRCm39) |
|
probably null |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 70,162,456 (GRCm39) |
|
probably benign |
Het |
| Map1a |
TGGCTCCAGCTCCAGCTCCAGCTCCAGCTCC |
TGGCTCCAGCTCCAGCTCCAGCTCCAGCTCCGGCTCCAGCTCCAGCTCCAGCTCCAGCTCC |
2: 121,136,768 (GRCm39) |
|
probably benign |
Het |
| Or10n7-ps1 |
GA |
GATATA |
9: 39,598,049 (GRCm39) |
|
probably null |
Het |
| Pdcd11 |
AGGAGGAGG |
AG |
19: 47,101,884 (GRCm39) |
|
probably null |
Het |
| Pknox2 |
ACACACACACACACACTCAC |
ACAC |
9: 36,820,905 (GRCm39) |
|
probably benign |
Het |
| Rfx5 |
A |
T |
3: 94,863,070 (GRCm39) |
K54I |
probably damaging |
Het |
| Rps19 |
AAAAAAT |
AAAAAATAAAAAT |
7: 24,588,605 (GRCm39) |
|
probably benign |
Het |
| Rragd |
CATGCCTTTCATTCTA |
C |
4: 32,995,150 (GRCm39) |
|
probably benign |
Het |
| Sbp |
GACAACA |
GACAACACAGATGCTAACAACA |
17: 24,164,351 (GRCm39) |
|
probably benign |
Het |
| Stab2 |
CTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
10: 86,702,622 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
CAG |
CAGGAG |
17: 48,097,017 (GRCm39) |
|
probably benign |
Het |
| Trim33 |
GGCCCCCGC |
GGC |
3: 103,187,533 (GRCm39) |
|
probably benign |
Het |
| Zfp598 |
ACAACCAC |
ACAACCACAACCAC |
17: 24,899,744 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Il2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01518:Il2
|
APN |
3 |
37,177,156 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
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 |
|
|
RF064:Il2
|
UTSW |
3 |
37,179,913 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGCAAGAAAGCTAAAGGTATTGC -3'
(R):5'- GCCACACAGGTAGACTCTTTG -3'
Sequencing Primer
(F):5'- CCTATAGATGGGATGGCTGTGCAC -3'
(R):5'- GTAATATGTAAAACATCGTGACACCC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation