Incidental Mutation 'R7300:Il17ra'
ID |
566920 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Il17ra
|
Ensembl Gene |
ENSMUSG00000002897 |
Gene Name |
interleukin 17 receptor A |
Synonyms |
Il17r, VDw217 |
MMRRC Submission |
045404-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R7300 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
120440143-120460692 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 120459063 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 738
(D738G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002976
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002976]
|
AlphaFold |
Q60943 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002976
AA Change: D738G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000002976 Gene: ENSMUSG00000002897 AA Change: D738G
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 |
|
Meta Mutation Damage Score |
0.0637 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
94% (45/48) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actmap |
G |
A |
7: 26,900,548 (GRCm39) |
A176T |
probably damaging |
Het |
Adgrd1 |
T |
C |
5: 129,174,411 (GRCm39) |
|
probably null |
Het |
Atr |
T |
C |
9: 95,747,423 (GRCm39) |
I235T |
probably benign |
Het |
Bpifb5 |
A |
G |
2: 154,070,066 (GRCm39) |
E172G |
possibly damaging |
Het |
Btbd2 |
A |
T |
10: 80,480,100 (GRCm39) |
I420N |
probably damaging |
Het |
Ccdc141 |
G |
A |
2: 76,845,038 (GRCm39) |
T1343I |
probably benign |
Het |
Cd59b |
A |
T |
2: 103,914,795 (GRCm39) |
K64N |
possibly damaging |
Het |
Cd63 |
A |
G |
10: 128,748,034 (GRCm39) |
N144S |
probably benign |
Het |
Cip2a |
A |
G |
16: 48,834,217 (GRCm39) |
K631E |
probably damaging |
Het |
Col4a4 |
C |
T |
1: 82,464,361 (GRCm39) |
R989Q |
unknown |
Het |
Cyp4a31 |
A |
G |
4: 115,427,468 (GRCm39) |
T225A |
probably benign |
Het |
Dnah1 |
T |
G |
14: 30,991,798 (GRCm39) |
E3068A |
probably benign |
Het |
Fpgt |
C |
T |
3: 154,792,612 (GRCm39) |
V472I |
probably damaging |
Het |
Gm4779 |
TCGGGGCCGGGGCCGGGGCCG |
TCGGGGCCGGGGCCGGGGCCGGGGCCG |
X: 100,837,777 (GRCm39) |
|
probably benign |
Het |
Homer3 |
T |
C |
8: 70,737,953 (GRCm39) |
M1T |
probably null |
Het |
Ighv1-4 |
T |
C |
12: 114,450,908 (GRCm39) |
I67V |
probably benign |
Het |
Il2ra |
A |
G |
2: 11,681,721 (GRCm39) |
T109A |
not run |
Het |
Itgb6 |
T |
C |
2: 60,435,650 (GRCm39) |
D700G |
probably benign |
Het |
Krt31 |
T |
C |
11: 99,938,612 (GRCm39) |
E327G |
probably damaging |
Het |
Large1 |
A |
C |
8: 73,564,224 (GRCm39) |
L514R |
probably damaging |
Het |
Map3k8 |
C |
T |
18: 4,349,076 (GRCm39) |
V81M |
probably damaging |
Het |
Mstn |
T |
C |
1: 53,103,239 (GRCm39) |
S192P |
probably benign |
Het |
Olfml3 |
T |
C |
3: 103,643,176 (GRCm39) |
K402E |
probably damaging |
Het |
Or13a27 |
A |
T |
7: 139,925,268 (GRCm39) |
N211K |
probably damaging |
Het |
Or2n1c |
A |
C |
17: 38,519,588 (GRCm39) |
T151P |
possibly damaging |
Het |
Or2y1c |
C |
T |
11: 49,361,473 (GRCm39) |
T165I |
probably benign |
Het |
Or52i2 |
A |
G |
7: 102,319,417 (GRCm39) |
S97G |
probably benign |
Het |
Or7g17 |
T |
C |
9: 18,768,530 (GRCm39) |
I194T |
not run |
Het |
Or8k25 |
T |
C |
2: 86,244,330 (GRCm39) |
E22G |
probably null |
Het |
Pde4a |
T |
C |
9: 21,117,618 (GRCm39) |
S627P |
probably damaging |
Het |
Pdxdc1 |
A |
G |
16: 13,697,374 (GRCm39) |
I102T |
probably damaging |
Het |
Phldb2 |
A |
G |
16: 45,645,925 (GRCm39) |
S174P |
probably damaging |
Het |
Pla2g4e |
C |
T |
2: 120,021,680 (GRCm39) |
V143I |
probably damaging |
Het |
Pou4f2 |
C |
T |
8: 79,162,735 (GRCm39) |
|
probably null |
Het |
Ppl |
C |
T |
16: 4,920,235 (GRCm39) |
V387M |
possibly damaging |
Het |
Pramel43 |
A |
T |
5: 94,760,655 (GRCm39) |
D340E |
probably benign |
Het |
Rarg |
A |
T |
15: 102,160,852 (GRCm39) |
|
probably null |
Het |
Ryr1 |
T |
C |
7: 28,758,936 (GRCm39) |
Y3414C |
probably damaging |
Het |
Serpinb8 |
T |
A |
1: 107,535,053 (GRCm39) |
*375K |
probably null |
Het |
Sim1 |
C |
T |
10: 50,785,614 (GRCm39) |
H228Y |
probably benign |
Het |
Spag4 |
A |
T |
2: 155,907,541 (GRCm39) |
H87L |
probably benign |
Het |
Ttc17 |
A |
T |
2: 94,205,479 (GRCm39) |
L289Q |
probably damaging |
Het |
Ubac2 |
T |
C |
14: 122,142,586 (GRCm39) |
L28P |
probably damaging |
Het |
Vmn2r31 |
C |
A |
7: 7,387,775 (GRCm39) |
A599S |
possibly damaging |
Het |
Vps13c |
T |
C |
9: 67,847,826 (GRCm39) |
V2196A |
probably benign |
Het |
Zswim5 |
A |
T |
4: 116,833,102 (GRCm39) |
I612F |
probably damaging |
Het |
Zzef1 |
T |
A |
11: 72,765,830 (GRCm39) |
H1452Q |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAATGGCAAAGCTGGACCC -3'
(R):5'- TCCGTAGTTCCTCAGGAGAG -3'
Sequencing Primer
(F):5'- CTCAGCTATGGCCACAGAGAG -3'
(R):5'- TTCCTCAGGAGAGAGAGACTC -3'
|
Posted On |
2019-06-26 |