Incidental Mutation 'R8685:Il17rb'
| ID |
662005 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il17rb
|
| Ensembl Gene |
ENSMUSG00000015966 |
| Gene Name |
interleukin 17 receptor B |
| Synonyms |
IL-17Rh1, Il17br, IL17RH1, IL-17ER, Evi27 |
| MMRRC Submission |
068540-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R8685 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
29718125-29730853 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29726297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 97
(Y97F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016110
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016110]
[ENSMUST00000067620]
[ENSMUST00000122205]
[ENSMUST00000135888]
[ENSMUST00000136726]
[ENSMUST00000224797]
|
| AlphaFold |
Q9JIP3 |
| PDB Structure |
Crystal Structure of iL-17 receptor B SEFIR domain [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016110
AA Change: Y97F
PolyPhen 2
Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000016110
Gene: ENSMUSG00000015966
AA Change: Y97F
| 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 benign
Transcript: ENSMUST00000067620
|
| SMART Domains |
Protein: ENSMUSP00000065542
Gene: ENSMUSG00000015970
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GMC_oxred_N
|
43 |
341 |
2.4e-98 |
PFAM |
|
Pfam:Lycopene_cycl
|
45 |
110 |
8.4e-8 |
PFAM |
|
Pfam:GMC_oxred_C
|
431 |
569 |
2.5e-43 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000122205
AA Change: Y97F
PolyPhen 2
Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113686
Gene: ENSMUSG00000015966
AA Change: Y97F
| 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 |
probably damaging
Transcript: ENSMUST00000135888
AA Change: Y97F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121407
Gene: ENSMUSG00000015966
AA Change: Y97F
| 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 benign
Transcript: ENSMUST00000136726
AA Change: Y97F
PolyPhen 2
Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000117802
Gene: ENSMUSG00000015966
AA Change: Y97F
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3JVF|C
|
13 |
171 |
5e-12 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224797
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
| Validation Efficiency |
100% (44/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
T |
C |
10: 28,862,140 (GRCm39) |
Y50C |
probably damaging |
Het |
| Adgrl3 |
G |
T |
5: 81,874,708 (GRCm39) |
D1002Y |
possibly damaging |
Het |
| Aoc3 |
G |
A |
11: 101,223,042 (GRCm39) |
R426H |
probably benign |
Het |
| Atf6b |
A |
G |
17: 34,869,320 (GRCm39) |
H179R |
probably benign |
Het |
| Bbs4 |
T |
C |
9: 59,247,138 (GRCm39) |
T121A |
probably benign |
Het |
| Brca1 |
T |
C |
11: 101,380,672 (GRCm39) |
Y1787C |
probably benign |
Het |
| Cbx2 |
T |
A |
11: 118,918,746 (GRCm39) |
S104T |
possibly damaging |
Het |
| Cdh10 |
T |
A |
15: 18,899,851 (GRCm39) |
N59K |
possibly damaging |
Het |
| Clstn3 |
C |
T |
6: 124,433,867 (GRCm39) |
R431H |
probably damaging |
Het |
| Cylc2 |
C |
T |
4: 51,229,651 (GRCm39) |
T331M |
unknown |
Het |
| Dcpp3 |
T |
C |
17: 24,138,096 (GRCm39) |
S85P |
probably benign |
Het |
| Dip2c |
A |
G |
13: 9,687,161 (GRCm39) |
T1262A |
probably benign |
Het |
| Dlgap2 |
A |
G |
8: 14,881,628 (GRCm39) |
E900G |
possibly damaging |
Het |
| Dtx4 |
C |
T |
19: 12,446,995 (GRCm39) |
D566N |
probably benign |
Het |
| Elmo1 |
T |
A |
13: 20,474,594 (GRCm39) |
N339K |
possibly damaging |
Het |
| Gm11596 |
C |
A |
11: 99,683,816 (GRCm39) |
R101S |
unknown |
Het |
| Hk1 |
T |
C |
10: 62,132,453 (GRCm39) |
|
probably benign |
Het |
| Hrnr |
T |
A |
3: 93,230,205 (GRCm39) |
S148T |
unknown |
Het |
| Hyls1 |
A |
G |
9: 35,472,724 (GRCm39) |
Y231H |
probably damaging |
Het |
| Lamc1 |
G |
T |
1: 153,109,288 (GRCm39) |
T1168K |
probably benign |
Het |
| Larp6 |
A |
T |
9: 60,631,495 (GRCm39) |
D89V |
probably damaging |
Het |
| Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
| Myo18a |
A |
G |
11: 77,745,520 (GRCm39) |
T1953A |
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,192,229 (GRCm39) |
D1127G |
possibly damaging |
Het |
| Myo7a |
T |
C |
7: 97,746,334 (GRCm39) |
D266G |
probably benign |
Het |
| Naa35 |
T |
A |
13: 59,734,036 (GRCm39) |
M22K |
probably benign |
Het |
| Niban2 |
T |
G |
2: 32,809,101 (GRCm39) |
L229R |
probably benign |
Het |
| Or1f19 |
A |
T |
16: 3,410,904 (GRCm39) |
I215F |
probably damaging |
Het |
| Pcdha8 |
T |
A |
18: 37,127,003 (GRCm39) |
V495E |
probably damaging |
Het |
| Per2 |
T |
G |
1: 91,378,402 (GRCm39) |
D49A |
possibly damaging |
Het |
| Plau |
G |
A |
14: 20,889,627 (GRCm39) |
|
probably benign |
Het |
| Plekhg6 |
T |
A |
6: 125,352,755 (GRCm39) |
I131L |
possibly damaging |
Het |
| Pnma8b |
T |
A |
7: 16,679,965 (GRCm39) |
D316E |
unknown |
Het |
| Ppp4r3b |
T |
C |
11: 29,159,436 (GRCm39) |
Y597H |
possibly damaging |
Het |
| Psmd2 |
T |
C |
16: 20,474,161 (GRCm39) |
V288A |
probably benign |
Het |
| Slc6a15 |
T |
C |
10: 103,245,556 (GRCm39) |
V513A |
possibly damaging |
Het |
| Smarcd3 |
G |
A |
5: 24,800,988 (GRCm39) |
R140W |
probably damaging |
Het |
| Srrm4 |
T |
C |
5: 116,585,380 (GRCm39) |
R440G |
unknown |
Het |
| Tpsg1 |
A |
T |
17: 25,592,241 (GRCm39) |
Y105F |
possibly damaging |
Het |
| Trbv26 |
C |
A |
6: 41,204,693 (GRCm39) |
A38E |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,198,401 (GRCm39) |
N1488K |
probably damaging |
Het |
| Vill |
A |
T |
9: 118,895,795 (GRCm39) |
R502S |
probably benign |
Het |
| Zbed6 |
A |
T |
1: 133,584,754 (GRCm39) |
L861* |
probably null |
Het |
|
| Other mutations in Il17rb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01584:Il17rb
|
APN |
14 |
29,725,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCATCTTGCTCTGCTCTG -3'
(R):5'- TTCAGGCAGAATTACCTCCCATC -3'
Sequencing Primer
(F):5'- GCATCATCGGGCTTTTCTGAAAC -3'
(R):5'- ACTCTGTCTGTACCCTGGGGAC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation