Incidental Mutation 'RF029:Il2'
| ID |
604266 |
| 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 # |
RF029 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
37174862-37180103 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
GTGG to GTGGGGCTTGAACTGG
at 37179976 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: 99.2%
- 20x: 98.3%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
GGTGGCCAG |
GGTGGCCAGCAAAAACAGAAAGGAAAAAGTGGCCAG |
6: 131,529,858 (GRCm39) |
|
probably benign |
Het |
| Abca17 |
T |
TCCCTC |
17: 24,506,701 (GRCm39) |
|
probably benign |
Het |
| Amot |
GGAGCAGCAA |
G |
X: 144,233,984 (GRCm39) |
|
probably benign |
Het |
| C1s1 |
CCCATGGCTC |
CC |
6: 124,518,310 (GRCm39) |
|
probably null |
Het |
| Cacna1a |
CCA |
CCAACA |
8: 85,365,353 (GRCm39) |
|
probably benign |
Het |
| Ccdc170 |
ACC |
ACCGCC |
10: 4,511,026 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
CAGA |
CAGAGACACTGACCAGGGATGTGATAGA |
9: 86,922,483 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
CCAGGGA |
CCAGGGATGTGACAGACACACTGCACAGGGA |
9: 86,922,495 (GRCm39) |
|
probably benign |
Het |
| Defb22 |
GCGGCA |
GCGGCAGAGCTGGCCTTTGCGGCA |
2: 152,327,753 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
CGGAGCACAGTTCCTACCTCGTT |
CGGAGCACAGTTCCTACCTCGTTTTGGGGGAGGAGCACAGTTCCTACCTCGTT |
9: 20,821,419 (GRCm39) |
|
probably null |
Het |
| Eed |
C |
A |
7: 89,604,240 (GRCm39) |
A411S |
probably benign |
Het |
| Exd2 |
CCACAGC |
CC |
12: 80,522,720 (GRCm39) |
|
probably null |
Het |
| Fam171b |
GCAGC |
GCAGCATCAGC |
2: 83,643,236 (GRCm39) |
|
probably benign |
Het |
| Fbrsl1 |
GCGTGTGCTGGT |
GCGTGTGCTGGTTCGTGTGCTGGT |
5: 110,526,005 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA |
TAGATGTGAAACTCTTAGAGGTAAGA |
2: 82,824,352 (GRCm39) |
|
probably null |
Het |
| Gabre |
GGCTC |
GGCTCCTGCTC |
X: 71,313,665 (GRCm39) |
|
probably benign |
Het |
| Gm47955 |
G |
GTTGTGGCTT |
1: 82,938,248 (GRCm39) |
|
probably benign |
Het |
| Gm572 |
TGGGGGGGGGGGG |
TGGGGG |
4: 148,755,850 (GRCm39) |
|
probably null |
Het |
| Hic1 |
CGGGGGGGGGG |
CGGGGGGG |
11: 75,060,268 (GRCm39) |
|
probably benign |
Het |
| Ifi208 |
AGATG |
AG |
1: 173,505,262 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
TG |
TGAGCACATGG |
6: 145,119,516 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CACAGCCACAGCCAC |
CACAGCCACAGCCACAACAGCCACAGCCAC |
1: 83,019,991 (GRCm39) |
|
probably benign |
Het |
| Lkaaear1 |
GCTCCAGCTCCAGCTCCAGCTCCA |
GCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA |
2: 181,339,372 (GRCm39) |
|
probably benign |
Het |
| Lkaaear1 |
CCAGCTCCAGCT |
CCAGCTCCAGCTACAGCTCCAGCT |
2: 181,339,381 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
TGAGGAGCAAGCTGAGA |
TGAGGAGCAAGCTGAGATACACGTTAGCTGGGAGGAGCAAGCTGAGA |
2: 119,458,075 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
CTGAGA |
CTGAGATACACGTTAGCAGTGAGGAGCAAGATGAGA |
2: 119,458,086 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Pnma8a |
CAACATC |
CAACATCTCATGATGCACCTGCTTAAACATC |
7: 16,695,369 (GRCm39) |
|
probably null |
Het |
| Polr1has |
CG |
CCACCACCACCACCCCCCCCAGG |
17: 37,275,963 (GRCm39) |
|
probably benign |
Het |
| Rasa2 |
CGC |
CGCAGC |
9: 96,513,520 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
TATTGCGGGACCAGGTATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC |
TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC |
2: 155,938,015 (GRCm39) |
|
probably benign |
Het |
| Reep1 |
CGCCA |
CGCCAGCCA |
6: 71,684,950 (GRCm39) |
|
probably null |
Het |
| Tcof1 |
CAG |
CAGAAG |
18: 60,968,807 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
AGC |
AGCGGC |
18: 60,968,817 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
GCTGCTGCT |
GCTGCTGCTGCTGCTTCTGCTGCT |
15: 72,673,172 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
CAGCAACAG |
CAGCAACAGAAGCAACAG |
8: 109,682,724 (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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTATTAAACACAGCCTTTGGCAAG -3'
(R):5'- GGTAATGCTTTCTGCCACAC -3'
Sequencing Primer
(F):5'- TTTGGCAAGAAAGCTAAAGGTATTGC -3'
(R):5'- GCCACACAGGTAGACTCTTTG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation