Incidental Mutation 'R9742:Il17ra'
| ID |
731871 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il17ra
|
| Ensembl Gene |
ENSMUSG00000002897 |
| Gene Name |
interleukin 17 receptor A |
| Synonyms |
Il17r, VDw217 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R9742 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
120440143-120460692 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 120458466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 539
(I539N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002976
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002976]
|
| AlphaFold |
Q60943 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002976
AA Change: I539N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002976
Gene: ENSMUSG00000002897
AA Change: I539N
| 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
|
| Meta Mutation Damage Score |
0.9143 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.1%
|
| 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 |
|---|
| Acan |
T |
G |
7: 78,749,115 (GRCm39) |
S1295R |
probably benign |
Het |
| Acsf2 |
C |
A |
11: 94,463,963 (GRCm39) |
V74L |
probably benign |
Het |
| Actrt3 |
T |
C |
3: 30,652,434 (GRCm39) |
Y220C |
probably damaging |
Het |
| Adgrl2 |
A |
G |
3: 148,541,986 (GRCm39) |
|
probably null |
Het |
| Ak2 |
T |
A |
4: 128,901,961 (GRCm39) |
D211E |
possibly damaging |
Het |
| Atp4b |
G |
A |
8: 13,440,097 (GRCm39) |
T83I |
probably damaging |
Het |
| Brat1 |
A |
G |
5: 140,703,912 (GRCm39) |
T722A |
probably benign |
Het |
| Cfap65 |
T |
C |
1: 74,943,840 (GRCm39) |
Y1557C |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,231,935 (GRCm39) |
D1051G |
possibly damaging |
Het |
| Cuedc2 |
A |
G |
19: 46,319,727 (GRCm39) |
|
probably null |
Het |
| Dtnb |
A |
T |
12: 3,736,740 (GRCm39) |
K293N |
possibly damaging |
Het |
| Dusp26 |
A |
T |
8: 31,584,198 (GRCm39) |
T102S |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,024,170 (GRCm39) |
L1079H |
probably damaging |
Het |
| Epha6 |
T |
C |
16: 60,026,065 (GRCm39) |
Y459C |
probably damaging |
Het |
| Fam89b |
A |
T |
19: 5,779,330 (GRCm39) |
S76T |
probably benign |
Het |
| Fbxo33 |
A |
G |
12: 59,251,682 (GRCm39) |
S278P |
probably damaging |
Het |
| Fndc3a |
C |
A |
14: 72,777,693 (GRCm39) |
E1171* |
probably null |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Khdc1c |
T |
G |
1: 21,439,945 (GRCm39) |
H165Q |
probably benign |
Het |
| Ldb1 |
A |
G |
19: 46,023,858 (GRCm39) |
|
probably null |
Het |
| Lrrc27 |
C |
T |
7: 138,806,229 (GRCm39) |
A298V |
probably benign |
Het |
| Lsr |
CTCTTCTTCTTCTTCTTC |
CTCTTCTTCTTCTTC |
7: 30,657,492 (GRCm39) |
|
probably benign |
Het |
| Mpi |
A |
G |
9: 57,452,606 (GRCm39) |
C309R |
probably damaging |
Het |
| Mrtfa |
G |
A |
15: 80,901,180 (GRCm39) |
A472V |
possibly damaging |
Het |
| Mtcl3 |
C |
A |
10: 29,024,394 (GRCm39) |
Q437K |
probably benign |
Het |
| Muc17 |
A |
G |
5: 137,167,127 (GRCm39) |
Y276H |
|
Het |
| Myh6 |
T |
A |
14: 55,194,056 (GRCm39) |
M778L |
probably benign |
Het |
| Nmnat1 |
T |
A |
4: 149,553,338 (GRCm39) |
E258V |
probably damaging |
Het |
| Or10ag53 |
T |
C |
2: 87,082,376 (GRCm39) |
F32L |
probably benign |
Het |
| Or5b108 |
T |
C |
19: 13,168,769 (GRCm39) |
V246A |
probably damaging |
Het |
| Pik3c2b |
A |
G |
1: 133,022,487 (GRCm39) |
E1143G |
probably damaging |
Het |
| Plch2 |
C |
T |
4: 155,082,912 (GRCm39) |
D579N |
probably damaging |
Het |
| Slc22a19 |
T |
C |
19: 7,688,281 (GRCm39) |
Q93R |
probably benign |
Het |
| Slc9c1 |
T |
A |
16: 45,400,616 (GRCm39) |
I742N |
probably damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,297,222 (GRCm39) |
Y38C |
probably damaging |
Het |
| Strbp |
T |
C |
2: 37,515,268 (GRCm39) |
T253A |
probably damaging |
Het |
| Trim40 |
A |
G |
17: 37,199,902 (GRCm39) |
S59P |
possibly damaging |
Het |
| Trpm6 |
G |
T |
19: 18,800,766 (GRCm39) |
V827L |
probably benign |
Het |
| Unc5d |
A |
G |
8: 29,156,792 (GRCm39) |
|
probably null |
Het |
| Vmn2r118 |
T |
C |
17: 55,918,009 (GRCm39) |
T168A |
probably damaging |
Het |
| Wdfy4 |
G |
A |
14: 32,809,987 (GRCm39) |
H1745Y |
|
Het |
| Xrra1 |
A |
G |
7: 99,563,660 (GRCm39) |
D549G |
probably benign |
Het |
| Zhx2 |
A |
G |
15: 57,686,806 (GRCm39) |
E725G |
probably benign |
Het |
| Zzef1 |
G |
A |
11: 72,749,179 (GRCm39) |
R889H |
probably benign |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTCACTGCAGCCATGAAC -3'
(R):5'- AGCAGTGGGTCTTCAAACAC -3'
Sequencing Primer
(F):5'- TGCAGCCATGAACATGATCCTG -3'
(R):5'- CTTCTTCATCCAGGGAGGGAAGATC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation