Incidental Mutation 'R0042:Il17ra'
| ID |
18562 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il17ra
|
| Ensembl Gene |
ENSMUSG00000002897 |
| Gene Name |
interleukin 17 receptor A |
| Synonyms |
Il17r, VDw217 |
| MMRRC Submission |
038336-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R0042 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
120440143-120460692 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 120449086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002976
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002976]
|
| AlphaFold |
Q60943 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002976
|
| SMART Domains |
Protein: ENSMUSP00000002976
Gene: ENSMUSG00000002897
| 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 |
- 1x: 81.9%
- 3x: 73.7%
- 10x: 53.7%
- 20x: 34.5%
|
| Validation Efficiency |
94% (58/62) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
C |
T |
4: 53,059,245 (GRCm39) |
|
probably benign |
Het |
| Adgrf3 |
A |
G |
5: 30,402,426 (GRCm39) |
L534P |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,730,280 (GRCm39) |
D3568G |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,809,409 (GRCm39) |
|
probably benign |
Het |
| Ccnb2 |
A |
G |
9: 70,326,335 (GRCm39) |
V34A |
probably benign |
Het |
| Dmxl1 |
C |
A |
18: 49,997,102 (GRCm39) |
T466K |
probably benign |
Het |
| Eya1 |
T |
C |
1: 14,254,713 (GRCm39) |
D373G |
probably damaging |
Het |
| Fam120a |
A |
G |
13: 49,087,490 (GRCm39) |
V290A |
probably damaging |
Het |
| Gpr179 |
C |
T |
11: 97,225,757 (GRCm39) |
V2133I |
probably benign |
Het |
| Grb10 |
G |
T |
11: 11,886,798 (GRCm39) |
H435Q |
probably damaging |
Het |
| Gzmm |
T |
C |
10: 79,530,399 (GRCm39) |
I190T |
probably benign |
Het |
| H2-Q3 |
A |
G |
17: 35,578,823 (GRCm39) |
|
noncoding transcript |
Het |
| Hspb7 |
A |
G |
4: 141,151,245 (GRCm39) |
E129G |
probably damaging |
Het |
| Itgb3 |
A |
G |
11: 104,557,966 (GRCm39) |
T787A |
possibly damaging |
Het |
| Krt4 |
T |
G |
15: 101,831,187 (GRCm39) |
|
probably benign |
Het |
| Lgsn |
C |
T |
1: 31,229,534 (GRCm39) |
T85I |
probably benign |
Het |
| Metap1 |
C |
T |
3: 138,177,918 (GRCm39) |
V217I |
probably benign |
Het |
| Mib2 |
A |
T |
4: 155,743,897 (GRCm39) |
C48* |
probably null |
Het |
| Mroh4 |
T |
A |
15: 74,482,154 (GRCm39) |
I768F |
probably damaging |
Het |
| Npas3 |
T |
A |
12: 54,095,624 (GRCm39) |
D361E |
probably damaging |
Het |
| P4hb |
G |
A |
11: 120,459,092 (GRCm39) |
R134C |
probably damaging |
Het |
| Prr35 |
C |
A |
17: 26,166,956 (GRCm39) |
E194* |
probably null |
Het |
| Rbl1 |
A |
G |
2: 157,017,624 (GRCm39) |
|
probably benign |
Het |
| Rdh10 |
T |
A |
1: 16,178,260 (GRCm39) |
|
probably benign |
Het |
| Spata31 |
A |
T |
13: 65,070,377 (GRCm39) |
I842L |
probably benign |
Het |
| Stk32b |
A |
C |
5: 37,874,092 (GRCm39) |
D13E |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,123,192 (GRCm39) |
D708G |
possibly damaging |
Het |
| Taar6 |
T |
C |
10: 23,861,021 (GRCm39) |
D175G |
probably benign |
Het |
| Tmod4 |
T |
C |
3: 95,037,099 (GRCm39) |
D164G |
possibly damaging |
Het |
| Ttc23l |
A |
C |
15: 10,551,627 (GRCm39) |
L33W |
probably damaging |
Het |
| Ttc39d |
T |
C |
17: 80,523,379 (GRCm39) |
Y13H |
probably benign |
Het |
| Utp18 |
G |
T |
11: 93,766,684 (GRCm39) |
T309K |
probably damaging |
Het |
| Vps11 |
G |
T |
9: 44,267,588 (GRCm39) |
Y341* |
probably null |
Het |
| Vsig8 |
T |
C |
1: 172,387,925 (GRCm39) |
V5A |
possibly 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 |
|
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 |
|
|
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 |
2013-03-25 |
Incidental Mutation