Incidental Mutation 'IGL01584:Il17rb'
| ID |
91486 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Il17rb
|
| Ensembl Gene |
ENSMUSG00000015966 |
| Gene Name |
interleukin 17 receptor B |
| Synonyms |
IL-17Rh1, Il17br, IL17RH1, IL-17ER, Evi27 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
IGL01584
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
29718125-29730853 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29725637 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 121
(F121S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117802
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016110]
[ENSMUST00000122205]
[ENSMUST00000135888]
[ENSMUST00000136726]
[ENSMUST00000224797]
|
| AlphaFold |
Q9JIP3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016110
AA Change: F121S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000016110
Gene: ENSMUSG00000015966
AA Change: F121S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:IL17R_fnIII_D1
|
22 |
175 |
4.3e-26 |
PFAM |
|
Pfam:IL17R_fnIII_D2
|
176 |
268 |
1.3e-11 |
PFAM |
|
transmembrane domain
|
287 |
309 |
N/A |
INTRINSIC |
|
Pfam:SEFIR
|
329 |
476 |
3.5e-49 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122205
AA Change: F121S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113686
Gene: ENSMUSG00000015966
AA Change: F121S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
PDB:4HSA|F
|
34 |
276 |
2e-23 |
PDB |
|
transmembrane domain
|
287 |
309 |
N/A |
INTRINSIC |
|
Pfam:SEFIR
|
329 |
476 |
1.7e-49 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000135888
|
| SMART Domains |
Protein: ENSMUSP00000121407
Gene: ENSMUSG00000015966
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:IL17R_fnIII_D1
|
22 |
123 |
1.1e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136726
AA Change: F121S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117802
Gene: ENSMUSG00000015966
AA Change: F121S
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3JVF|C
|
13 |
171 |
5e-12 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223643
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224797
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytokine receptor. This receptor specifically binds to IL17B and IL17E, but does not bind to IL17 and IL17C. This receptor has been shown to mediate the activation of NF-kappaB and the production of IL8 induced by IL17E. The expression of the rat counterpart of this gene was found to be significantly up-regulated during intestinal inflammation, which suggested the immunoregulatory activity of this receptor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice that are homozygous for a null allele have defects in their response to IL17A or IL17F. In addition this locus is a common site of retoviral integration in BXH2 murine myeloid leukemias and occurred at a CpG island 6 kb upstream of the Il17rb gene. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
G |
11: 110,195,749 (GRCm39) |
V570A |
probably damaging |
Het |
| Abcb1a |
T |
C |
5: 8,748,637 (GRCm39) |
S323P |
possibly damaging |
Het |
| Adcy8 |
C |
T |
15: 64,687,170 (GRCm39) |
D445N |
probably damaging |
Het |
| Cdc14a |
A |
T |
3: 116,186,474 (GRCm39) |
Y102* |
probably null |
Het |
| Cubn |
A |
G |
2: 13,313,472 (GRCm39) |
|
probably benign |
Het |
| Dcaf7 |
T |
C |
11: 105,944,653 (GRCm39) |
S279P |
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,511,567 (GRCm39) |
Q1514R |
probably damaging |
Het |
| Dtx2 |
G |
A |
5: 136,055,420 (GRCm39) |
S369N |
possibly damaging |
Het |
| Dusp11 |
A |
G |
6: 85,930,376 (GRCm39) |
F136S |
probably damaging |
Het |
| Fbxo32 |
T |
C |
15: 58,047,632 (GRCm39) |
D227G |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,120,773 (GRCm39) |
V1215E |
unknown |
Het |
| Flg2 |
A |
T |
3: 93,122,777 (GRCm39) |
D1649V |
unknown |
Het |
| Gabbr2 |
T |
C |
4: 46,674,524 (GRCm39) |
K821R |
probably damaging |
Het |
| Gga2 |
T |
C |
7: 121,590,761 (GRCm39) |
T516A |
probably benign |
Het |
| Gm15446 |
T |
A |
5: 110,088,668 (GRCm39) |
*64K |
probably null |
Het |
| Gm5900 |
T |
C |
7: 104,599,361 (GRCm39) |
|
noncoding transcript |
Het |
| Ip6k3 |
C |
A |
17: 27,370,034 (GRCm39) |
R128L |
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,754,250 (GRCm39) |
|
probably benign |
Het |
| Lrrn4 |
A |
G |
2: 132,719,996 (GRCm39) |
L268P |
probably damaging |
Het |
| Mthfd1l |
C |
A |
10: 3,966,738 (GRCm39) |
S332R |
probably damaging |
Het |
| Or12d12 |
C |
T |
17: 37,610,629 (GRCm39) |
R228H |
probably benign |
Het |
| Or5t17 |
G |
A |
2: 86,832,495 (GRCm39) |
V61I |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,592,569 (GRCm39) |
E25G |
probably damaging |
Het |
| Prima1 |
A |
T |
12: 103,169,047 (GRCm39) |
|
probably null |
Het |
| Rbm26 |
A |
G |
14: 105,368,968 (GRCm39) |
V737A |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,616,644 (GRCm39) |
|
probably null |
Het |
| Sema5b |
G |
T |
16: 35,465,793 (GRCm39) |
C114F |
probably damaging |
Het |
| Spata31f1e |
A |
C |
4: 42,794,014 (GRCm39) |
S39R |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,407,581 (GRCm39) |
V3196A |
probably damaging |
Het |
| Svs3b |
T |
C |
2: 164,097,943 (GRCm39) |
Y126C |
probably benign |
Het |
| Tmem171 |
T |
C |
13: 98,828,683 (GRCm39) |
|
probably null |
Het |
| Tnrc6b |
T |
A |
15: 80,763,883 (GRCm39) |
W462R |
probably benign |
Het |
| Trdmt1 |
T |
C |
2: 13,524,739 (GRCm39) |
R239G |
probably benign |
Het |
| Usp5 |
A |
T |
6: 124,796,350 (GRCm39) |
V583E |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,602,111 (GRCm39) |
V639A |
probably benign |
Het |
| Vmn1r206 |
T |
C |
13: 22,804,964 (GRCm39) |
K81R |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,383,197 (GRCm39) |
I599M |
probably benign |
Het |
|
| Other mutations in Il17rb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03151:Il17rb
|
APN |
14 |
29,728,810 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0276:Il17rb
|
UTSW |
14 |
29,726,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0391:Il17rb
|
UTSW |
14 |
29,728,112 (GRCm39) |
splice site |
probably null |
|
|
R0391:Il17rb
|
UTSW |
14 |
29,726,304 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0408:Il17rb
|
UTSW |
14 |
29,718,637 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2011:Il17rb
|
UTSW |
14 |
29,718,797 (GRCm39) |
nonsense |
probably null |
|
|
R2012:Il17rb
|
UTSW |
14 |
29,718,797 (GRCm39) |
nonsense |
probably null |
|
|
R2057:Il17rb
|
UTSW |
14 |
29,719,111 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2227:Il17rb
|
UTSW |
14 |
29,728,038 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3548:Il17rb
|
UTSW |
14 |
29,730,729 (GRCm39) |
splice site |
probably null |
|
|
R4199:Il17rb
|
UTSW |
14 |
29,718,601 (GRCm39) |
missense |
probably benign |
|
|
R4578:Il17rb
|
UTSW |
14 |
29,724,356 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5092:Il17rb
|
UTSW |
14 |
29,724,333 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5928:Il17rb
|
UTSW |
14 |
29,726,232 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6280:Il17rb
|
UTSW |
14 |
29,724,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6378:Il17rb
|
UTSW |
14 |
29,722,320 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6470:Il17rb
|
UTSW |
14 |
29,724,866 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6741:Il17rb
|
UTSW |
14 |
29,722,293 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6919:Il17rb
|
UTSW |
14 |
29,726,228 (GRCm39) |
splice site |
probably null |
|
|
R7133:Il17rb
|
UTSW |
14 |
29,718,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7423:Il17rb
|
UTSW |
14 |
29,719,072 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7470:Il17rb
|
UTSW |
14 |
29,719,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7559:Il17rb
|
UTSW |
14 |
29,719,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7847:Il17rb
|
UTSW |
14 |
29,718,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8685:Il17rb
|
UTSW |
14 |
29,726,297 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8835:Il17rb
|
UTSW |
14 |
29,722,308 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9025:Il17rb
|
UTSW |
14 |
29,724,857 (GRCm39) |
intron |
probably benign |
|
|
R9434:Il17rb
|
UTSW |
14 |
29,728,054 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2013-12-09 |
Incidental Mutation