Incidental Mutation 'R6741:Il17rb'
ID |
530464 |
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 |
044858-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R6741 (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 29722293 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 246
(Q246L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113686
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016110]
[ENSMUST00000122205]
[ENSMUST00000135888]
[ENSMUST00000136726]
[ENSMUST00000224797]
|
AlphaFold |
Q9JIP3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000016110
AA Change: Q246L
PolyPhen 2
Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000016110 Gene: ENSMUSG00000015966 AA Change: Q246L
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 |
possibly damaging
Transcript: ENSMUST00000122205
AA Change: Q246L
PolyPhen 2
Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000113686 Gene: ENSMUSG00000015966 AA Change: Q246L
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 benign
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 benign
Transcript: ENSMUST00000136726
|
SMART Domains |
Protein: ENSMUSP00000117802 Gene: ENSMUSG00000015966
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225746
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225368
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
Validation Efficiency |
97% (34/35) |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actrt3 |
A |
C |
3: 30,652,663 (GRCm39) |
F144V |
possibly damaging |
Het |
Arhgef12 |
A |
G |
9: 42,883,503 (GRCm39) |
I1342T |
probably benign |
Het |
Dbn1 |
A |
G |
13: 55,629,350 (GRCm39) |
|
probably null |
Het |
Defb12 |
T |
C |
8: 19,164,757 (GRCm39) |
E27G |
probably benign |
Het |
Dennd2b |
A |
G |
7: 109,144,304 (GRCm39) |
Y534H |
possibly damaging |
Het |
Dthd1 |
A |
T |
5: 63,000,289 (GRCm39) |
H537L |
probably damaging |
Het |
Ep400 |
A |
T |
5: 110,824,761 (GRCm39) |
S2359T |
unknown |
Het |
Epha5 |
T |
C |
5: 84,254,557 (GRCm39) |
I572V |
possibly damaging |
Het |
Grb10 |
C |
A |
11: 11,886,717 (GRCm39) |
|
probably null |
Het |
Hectd2 |
T |
C |
19: 36,589,759 (GRCm39) |
I628T |
probably damaging |
Het |
Knop1 |
C |
T |
7: 118,445,061 (GRCm39) |
R301Q |
possibly damaging |
Het |
Lrp1b |
T |
C |
2: 41,136,001 (GRCm39) |
I1770M |
possibly damaging |
Het |
Mgst1 |
A |
C |
6: 138,127,836 (GRCm39) |
D66A |
probably damaging |
Het |
Nags |
A |
G |
11: 102,037,718 (GRCm39) |
D237G |
possibly damaging |
Het |
Nfatc2ip |
T |
A |
7: 125,995,182 (GRCm39) |
Q122L |
possibly damaging |
Het |
Nod2 |
T |
C |
8: 89,379,694 (GRCm39) |
V72A |
probably damaging |
Het |
Notch3 |
G |
T |
17: 32,362,458 (GRCm39) |
P1389Q |
probably benign |
Het |
Or5ac25 |
A |
G |
16: 59,181,918 (GRCm39) |
L221P |
probably damaging |
Het |
Plekhn1 |
A |
T |
4: 156,306,249 (GRCm39) |
I607N |
probably damaging |
Het |
Plekho2 |
C |
A |
9: 65,471,197 (GRCm39) |
R84L |
probably damaging |
Het |
Prag1 |
A |
T |
8: 36,614,434 (GRCm39) |
M1329L |
probably benign |
Het |
Prpsap2 |
C |
T |
11: 61,631,771 (GRCm39) |
|
probably null |
Het |
Ptprf |
A |
G |
4: 118,080,565 (GRCm39) |
S1230P |
probably benign |
Het |
Rigi |
A |
G |
4: 40,211,624 (GRCm39) |
I648T |
probably damaging |
Het |
Rptor |
T |
G |
11: 119,786,803 (GRCm39) |
L1256R |
possibly damaging |
Het |
Sesn3 |
T |
C |
9: 14,231,636 (GRCm39) |
I189T |
possibly damaging |
Het |
Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
Slc39a4 |
C |
T |
15: 76,498,283 (GRCm39) |
D385N |
probably damaging |
Het |
Tnfsf13b |
T |
C |
8: 10,057,314 (GRCm39) |
F128S |
possibly damaging |
Het |
Vmn1r49 |
A |
G |
6: 90,049,195 (GRCm39) |
V269A |
probably benign |
Het |
Vmn2r69 |
T |
A |
7: 85,061,724 (GRCm39) |
E83D |
probably benign |
Het |
Vmn2r76 |
T |
C |
7: 85,879,560 (GRCm39) |
N247D |
probably benign |
Het |
Zmym4 |
A |
G |
4: 126,808,878 (GRCm39) |
S390P |
possibly damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AACACTGCTTGACTGGGGAG -3'
(R):5'- GAAGTTCTAGGCTTCTCGAGTGAG -3'
Sequencing Primer
(F):5'- ACTGGGGAGAGACTTGCCATC -3'
(R):5'- CTCGAGTGAGTCATTCAGAGTTCAC -3'
|
Posted On |
2018-08-01 |