Incidental Mutation 'IGL01367:Il17ra'
| ID |
75989 |
| 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 # |
IGL01367
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
120440143-120460692 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120458426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 526
(Y526H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002976
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002976]
|
| AlphaFold |
Q60943 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002976
AA Change: Y526H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002976
Gene: ENSMUSG00000002897
AA Change: Y526H
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
A |
G |
11: 30,404,843 (GRCm39) |
V20A |
possibly damaging |
Het |
| Alk |
T |
C |
17: 72,207,781 (GRCm39) |
I985V |
probably damaging |
Het |
| Anapc2 |
A |
C |
2: 25,164,794 (GRCm39) |
R59S |
possibly damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,711,696 (GRCm39) |
D165E |
probably benign |
Het |
| Asb8 |
A |
T |
15: 98,034,054 (GRCm39) |
V167D |
probably damaging |
Het |
| Atp5pf |
A |
G |
16: 84,625,360 (GRCm39) |
M81T |
probably benign |
Het |
| Bcl7b |
A |
G |
5: 135,208,950 (GRCm39) |
T138A |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,146,566 (GRCm39) |
L2869P |
probably damaging |
Het |
| Chl1 |
T |
C |
6: 103,706,186 (GRCm39) |
S1174P |
probably benign |
Het |
| Clec2g |
T |
C |
6: 128,925,699 (GRCm39) |
I36T |
unknown |
Het |
| Denr |
A |
G |
5: 124,046,182 (GRCm39) |
D4G |
probably benign |
Het |
| Dnajc10 |
T |
C |
2: 80,155,096 (GRCm39) |
|
probably benign |
Het |
| Egf |
C |
T |
3: 129,496,104 (GRCm39) |
|
probably null |
Het |
| Galnt10 |
A |
C |
11: 57,616,409 (GRCm39) |
Y108S |
probably damaging |
Het |
| Gls |
C |
T |
1: 52,207,558 (GRCm39) |
G602D |
probably damaging |
Het |
| Grb10 |
G |
T |
11: 11,895,599 (GRCm39) |
Q242K |
probably damaging |
Het |
| Hspg2 |
A |
T |
4: 137,265,800 (GRCm39) |
Y1837F |
probably damaging |
Het |
| Ikzf1 |
G |
T |
11: 11,698,358 (GRCm39) |
A70S |
probably benign |
Het |
| Il34 |
A |
T |
8: 111,469,375 (GRCm39) |
I186N |
possibly damaging |
Het |
| Iqca1 |
G |
A |
1: 89,998,350 (GRCm39) |
|
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,896,546 (GRCm39) |
Y136C |
probably damaging |
Het |
| Man2b2 |
A |
T |
5: 36,971,681 (GRCm39) |
Y257* |
probably null |
Het |
| Map3k19 |
A |
G |
1: 127,752,088 (GRCm39) |
F421S |
possibly damaging |
Het |
| Melk |
A |
G |
4: 44,332,907 (GRCm39) |
T288A |
possibly damaging |
Het |
| Mpp2 |
T |
C |
11: 101,954,135 (GRCm39) |
E187G |
probably damaging |
Het |
| Mtf2 |
A |
G |
5: 108,252,323 (GRCm39) |
T394A |
probably benign |
Het |
| Neil2 |
A |
G |
14: 63,429,177 (GRCm39) |
S39P |
probably damaging |
Het |
| Or4e5 |
T |
A |
14: 52,727,624 (GRCm39) |
I266F |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 58,286,566 (GRCm39) |
E1214G |
possibly damaging |
Het |
| Pcdhb17 |
G |
T |
18: 37,620,548 (GRCm39) |
Q779H |
probably benign |
Het |
| Pik3c2b |
A |
G |
1: 133,033,726 (GRCm39) |
I1577V |
probably benign |
Het |
| Pkp3 |
C |
T |
7: 140,663,989 (GRCm39) |
P389S |
probably damaging |
Het |
| Ppp4r2 |
T |
A |
6: 100,841,706 (GRCm39) |
Y92* |
probably null |
Het |
| Rnf13 |
T |
C |
3: 57,714,508 (GRCm39) |
I189T |
probably benign |
Het |
| Serpinf2 |
T |
C |
11: 75,328,871 (GRCm39) |
D53G |
probably benign |
Het |
| Slc47a2 |
T |
A |
11: 61,220,607 (GRCm39) |
T184S |
probably benign |
Het |
| Sned1 |
T |
C |
1: 93,210,936 (GRCm39) |
I1008T |
probably benign |
Het |
| Sorcs3 |
A |
T |
19: 48,784,814 (GRCm39) |
E1079V |
probably damaging |
Het |
| Trappc8 |
G |
A |
18: 20,999,176 (GRCm39) |
S318L |
probably benign |
Het |
| Trappc9 |
A |
G |
15: 72,462,002 (GRCm39) |
S909P |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,560,483 (GRCm39) |
T29306I |
probably damaging |
Het |
| Twnk |
G |
A |
19: 45,000,090 (GRCm39) |
R602Q |
possibly damaging |
Het |
| Vmn2r15 |
A |
T |
5: 109,441,075 (GRCm39) |
I261K |
probably damaging |
Het |
| Vmn2r77 |
G |
A |
7: 86,461,124 (GRCm39) |
A817T |
probably damaging |
Het |
|
| Other mutations in Il17ra |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2013-10-07 |
Incidental Mutation