Incidental Mutation 'IGL03215:Il17ra'
| ID |
413460 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Il17ra
|
| Ensembl Gene |
ENSMUSG00000002897 |
| Gene Name |
interleukin 17 receptor A |
| Synonyms |
Il17r, VDw217 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL03215
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
120440143-120460692 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120449075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 54
(N54S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002976
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002976]
|
| AlphaFold |
Q60943 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002976
AA Change: N54S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002976
Gene: ENSMUSG00000002897
AA Change: N54S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
Pfam:IL17R_fnIII_D1
|
48 |
198 |
1.3e-70 |
PFAM |
|
Pfam:IL17R_fnIII_D2
|
199 |
303 |
9.6e-53 |
PFAM |
|
transmembrane domain
|
321 |
343 |
N/A |
INTRINSIC |
|
Pfam:SEFIR
|
380 |
539 |
1.5e-51 |
PFAM |
|
low complexity region
|
747 |
765 |
N/A |
INTRINSIC |
|
low complexity region
|
801 |
830 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204078
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204239
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit delayed neutrophil recruitment and enhanced susceptibility to intranasal infection by Klibsiella pneumoniae. Mice homozygous for a different knock-out allele exhibit delayed and milder IMQ-induced psoriasis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd3 |
C |
T |
1: 180,572,670 (GRCm39) |
A310V |
possibly damaging |
Het |
| Acmsd |
C |
A |
1: 127,685,750 (GRCm39) |
S197* |
probably null |
Het |
| Adgrg4 |
A |
T |
X: 56,022,956 (GRCm39) |
N2761I |
probably damaging |
Het |
| Amy1 |
G |
A |
3: 113,349,649 (GRCm39) |
A507V |
probably benign |
Het |
| Apob |
T |
C |
12: 8,063,818 (GRCm39) |
F316S |
possibly damaging |
Het |
| Arhgap10 |
T |
C |
8: 78,003,781 (GRCm39) |
T675A |
probably benign |
Het |
| Bbx |
A |
G |
16: 50,022,935 (GRCm39) |
I675T |
probably damaging |
Het |
| Cep126 |
C |
A |
9: 8,100,531 (GRCm39) |
E668* |
probably null |
Het |
| Cnga2 |
A |
G |
X: 71,052,772 (GRCm39) |
D549G |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 30,996,348 (GRCm39) |
I2663F |
probably damaging |
Het |
| Fmo5 |
A |
G |
3: 97,549,122 (GRCm39) |
M257V |
probably benign |
Het |
| Galntl6 |
T |
C |
8: 59,364,436 (GRCm39) |
I25V |
probably benign |
Het |
| Mthfd1l |
A |
T |
10: 3,991,826 (GRCm39) |
T593S |
probably benign |
Het |
| Or10ag2 |
G |
A |
2: 87,248,412 (GRCm39) |
V7I |
probably benign |
Het |
| Or1e30 |
G |
T |
11: 73,678,211 (GRCm39) |
W149L |
probably damaging |
Het |
| Or5ar1 |
A |
T |
2: 85,671,725 (GRCm39) |
S137T |
probably damaging |
Het |
| Or5h25 |
A |
T |
16: 58,930,325 (GRCm39) |
V216D |
possibly damaging |
Het |
| Rnasel |
T |
A |
1: 153,634,301 (GRCm39) |
L578Q |
probably damaging |
Het |
| Serpinb1a |
A |
G |
13: 33,034,352 (GRCm39) |
L13S |
probably damaging |
Het |
| Slf1 |
G |
A |
13: 77,198,096 (GRCm39) |
P726L |
probably benign |
Het |
| Spta1 |
T |
C |
1: 174,046,309 (GRCm39) |
M1630T |
probably damaging |
Het |
| Stk16 |
T |
C |
1: 75,189,236 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,911,499 (GRCm39) |
F1724L |
possibly damaging |
Het |
| Vmn1r58 |
T |
C |
7: 5,413,835 (GRCm39) |
I132V |
probably benign |
Het |
| Zbtb41 |
T |
C |
1: 139,374,688 (GRCm39) |
I716T |
probably damaging |
Het |
|
| Other mutations in Il17ra |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01367:Il17ra
|
APN |
6 |
120,458,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01413:Il17ra
|
APN |
6 |
120,452,542 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01418:Il17ra
|
APN |
6 |
120,452,542 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03047:Il17ra
|
UTSW |
6 |
120,458,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4305001:Il17ra
|
UTSW |
6 |
120,458,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0042:Il17ra
|
UTSW |
6 |
120,449,086 (GRCm39) |
splice site |
probably benign |
|
|
R0042:Il17ra
|
UTSW |
6 |
120,449,086 (GRCm39) |
splice site |
probably benign |
|
|
R0365:Il17ra
|
UTSW |
6 |
120,455,410 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0391:Il17ra
|
UTSW |
6 |
120,453,940 (GRCm39) |
splice site |
probably benign |
|
|
R0470:Il17ra
|
UTSW |
6 |
120,458,767 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0599:Il17ra
|
UTSW |
6 |
120,458,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1525:Il17ra
|
UTSW |
6 |
120,450,751 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1900:Il17ra
|
UTSW |
6 |
120,454,355 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1972:Il17ra
|
UTSW |
6 |
120,459,177 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4192:Il17ra
|
UTSW |
6 |
120,458,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4923:Il17ra
|
UTSW |
6 |
120,454,406 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5009:Il17ra
|
UTSW |
6 |
120,459,168 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5133:Il17ra
|
UTSW |
6 |
120,458,514 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5411:Il17ra
|
UTSW |
6 |
120,458,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5548:Il17ra
|
UTSW |
6 |
120,455,434 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6137:Il17ra
|
UTSW |
6 |
120,452,543 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6190:Il17ra
|
UTSW |
6 |
120,452,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7202:Il17ra
|
UTSW |
6 |
120,452,572 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7300:Il17ra
|
UTSW |
6 |
120,459,063 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8130:Il17ra
|
UTSW |
6 |
120,455,416 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8152:Il17ra
|
UTSW |
6 |
120,459,063 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8213:Il17ra
|
UTSW |
6 |
120,449,995 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8525:Il17ra
|
UTSW |
6 |
120,451,298 (GRCm39) |
nonsense |
probably null |
|
|
R8560:Il17ra
|
UTSW |
6 |
120,459,226 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8675:Il17ra
|
UTSW |
6 |
120,458,949 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8754:Il17ra
|
UTSW |
6 |
120,458,417 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8956:Il17ra
|
UTSW |
6 |
120,458,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9419:Il17ra
|
UTSW |
6 |
120,458,255 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9478:Il17ra
|
UTSW |
6 |
120,451,336 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9742:Il17ra
|
UTSW |
6 |
120,458,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9790:Il17ra
|
UTSW |
6 |
120,459,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9791:Il17ra
|
UTSW |
6 |
120,459,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation