Incidental Mutation 'IGL01418:Il17ra'
| ID |
278470 |
| 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: 0.065)
|
| Stock # |
IGL01418
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
120440143-120460692 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120452542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 242
(N242D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002976
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002976]
|
| AlphaFold |
Q60943 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002976
AA Change: N242D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000002976
Gene: ENSMUSG00000002897
AA Change: N242D
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam7 |
T |
A |
14: 68,762,655 (GRCm39) |
H190L |
probably benign |
Het |
| Apoo-ps |
T |
A |
13: 107,551,032 (GRCm39) |
|
noncoding transcript |
Het |
| Asic1 |
T |
A |
15: 99,569,998 (GRCm39) |
N106K |
probably damaging |
Het |
| Ceacam5 |
G |
A |
7: 17,479,524 (GRCm39) |
A214T |
probably damaging |
Het |
| Cfap221 |
T |
A |
1: 119,912,801 (GRCm39) |
H91L |
possibly damaging |
Het |
| Cnga4 |
A |
T |
7: 105,054,169 (GRCm39) |
M46L |
probably benign |
Het |
| Ctcfl |
T |
C |
2: 172,960,124 (GRCm39) |
E153G |
probably benign |
Het |
| Cubn |
C |
T |
2: 13,288,852 (GRCm39) |
V3374I |
probably benign |
Het |
| Cyb561a3 |
T |
A |
19: 10,562,610 (GRCm39) |
H83Q |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 117,951,217 (GRCm39) |
W1126* |
probably null |
Het |
| E130311K13Rik |
A |
C |
3: 63,827,683 (GRCm39) |
L141R |
possibly damaging |
Het |
| Ercc5 |
A |
G |
1: 44,206,440 (GRCm39) |
K451R |
probably benign |
Het |
| Fbxo34 |
T |
A |
14: 47,768,241 (GRCm39) |
C585S |
possibly damaging |
Het |
| Hoxc9 |
T |
A |
15: 102,892,432 (GRCm39) |
M215K |
probably damaging |
Het |
| Ifi214 |
T |
A |
1: 173,356,995 (GRCm39) |
N36I |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,316,585 (GRCm39) |
|
probably null |
Het |
| Lactb |
T |
C |
9: 66,875,045 (GRCm39) |
D349G |
possibly damaging |
Het |
| Lrp2 |
C |
T |
2: 69,355,630 (GRCm39) |
V405I |
probably benign |
Het |
| Map1b |
A |
T |
13: 99,568,338 (GRCm39) |
I1461K |
unknown |
Het |
| Mdh2 |
T |
A |
5: 135,814,879 (GRCm39) |
I116N |
probably damaging |
Het |
| Nek5 |
A |
C |
8: 22,585,285 (GRCm39) |
I364S |
probably damaging |
Het |
| Nr2c1 |
A |
T |
10: 94,026,552 (GRCm39) |
M476L |
probably damaging |
Het |
| Or10j2 |
T |
A |
1: 173,098,275 (GRCm39) |
C178S |
probably damaging |
Het |
| Or1d2 |
T |
C |
11: 74,255,810 (GRCm39) |
V105A |
possibly damaging |
Het |
| Or4k42 |
T |
C |
2: 111,319,984 (GRCm39) |
E173G |
probably benign |
Het |
| Or5w19 |
T |
C |
2: 87,698,809 (GRCm39) |
V158A |
probably benign |
Het |
| Pcdhb8 |
A |
G |
18: 37,489,029 (GRCm39) |
N236D |
probably damaging |
Het |
| Phf10 |
C |
A |
17: 15,165,396 (GRCm39) |
V487L |
probably benign |
Het |
| Pramel22 |
A |
T |
4: 143,381,887 (GRCm39) |
F270I |
probably benign |
Het |
| Ptpn3 |
G |
A |
4: 57,270,156 (GRCm39) |
T2I |
probably damaging |
Het |
| Rbl1 |
T |
C |
2: 156,994,812 (GRCm39) |
|
probably null |
Het |
| Slc24a3 |
A |
G |
2: 145,482,169 (GRCm39) |
D609G |
probably damaging |
Het |
| Slc25a40 |
A |
C |
5: 8,503,298 (GRCm39) |
*338Y |
probably null |
Het |
| Slc5a8 |
G |
T |
10: 88,740,895 (GRCm39) |
C270F |
probably damaging |
Het |
| Slfn8 |
T |
C |
11: 82,895,462 (GRCm39) |
D448G |
probably damaging |
Het |
| Tmem87a |
T |
C |
2: 120,216,351 (GRCm39) |
T180A |
probably benign |
Het |
| Trim30c |
A |
G |
7: 104,031,541 (GRCm39) |
S425P |
possibly damaging |
Het |
| Ubap1 |
A |
T |
4: 41,387,333 (GRCm39) |
R414S |
probably benign |
Het |
| Vipas39 |
G |
A |
12: 87,296,171 (GRCm39) |
T274I |
probably benign |
Het |
| Zfp507 |
T |
A |
7: 35,493,237 (GRCm39) |
|
probably null |
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 |
|
IGL03215:Il17ra
|
APN |
6 |
120,449,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation