Incidental Mutation 'R4199:Il17rb'
| ID |
318690 |
| 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 |
041029-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R4199 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
29718125-29730853 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 29718601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 494
(D494N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113686
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016110]
[ENSMUST00000016115]
[ENSMUST00000122205]
[ENSMUST00000135888]
[ENSMUST00000136726]
[ENSMUST00000224797]
|
| AlphaFold |
Q9JIP3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016110
AA Change: D494N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000016110
Gene: ENSMUSG00000015966
AA Change: D494N
| 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: ENSMUST00000016115
|
| SMART Domains |
Protein: ENSMUSP00000016115
Gene: ENSMUSG00000015971
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
27 |
N/A |
INTRINSIC |
|
ACTIN
|
46 |
621 |
3.34e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122205
AA Change: D494N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113686
Gene: ENSMUSG00000015966
AA Change: D494N
| 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: ENSMUST00000225368
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225746
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankhd1 |
C |
G |
18: 36,794,101 (GRCm39) |
|
probably benign |
Het |
| Cbarp |
G |
T |
10: 79,971,326 (GRCm39) |
H173Q |
probably damaging |
Het |
| Ccna1 |
G |
A |
3: 54,954,736 (GRCm39) |
A177V |
possibly damaging |
Het |
| Ces1f |
A |
G |
8: 93,983,517 (GRCm39) |
F497L |
probably benign |
Het |
| Cic |
TCCCCC |
TCCCCCCC |
7: 24,991,095 (GRCm39) |
|
probably null |
Het |
| Disc1 |
C |
T |
8: 125,875,198 (GRCm39) |
T556I |
probably damaging |
Het |
| Dnah3 |
C |
T |
7: 119,522,061 (GRCm39) |
G4033D |
probably damaging |
Het |
| Dnmt1 |
A |
G |
9: 20,849,414 (GRCm39) |
S63P |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,913,364 (GRCm39) |
A121T |
probably benign |
Het |
| Eps8 |
T |
C |
6: 137,491,325 (GRCm39) |
N351S |
probably damaging |
Het |
| Fbxo34 |
T |
A |
14: 47,768,454 (GRCm39) |
W605R |
probably damaging |
Het |
| Foxg1 |
T |
A |
12: 49,432,082 (GRCm39) |
S272T |
possibly damaging |
Het |
| Gal3st3 |
T |
A |
19: 5,357,808 (GRCm39) |
Y394* |
probably null |
Het |
| Gga1 |
A |
G |
15: 78,773,275 (GRCm39) |
E301G |
probably damaging |
Het |
| Ifitm5 |
T |
A |
7: 140,529,149 (GRCm39) |
*153Y |
probably null |
Het |
| Ighg2b |
G |
T |
12: 113,270,907 (GRCm39) |
P110Q |
probably damaging |
Het |
| Irf2bp2 |
C |
A |
8: 127,318,313 (GRCm39) |
A418S |
probably damaging |
Het |
| Lcn9 |
A |
G |
2: 25,714,773 (GRCm39) |
T171A |
probably benign |
Het |
| Lcorl |
T |
C |
5: 45,891,130 (GRCm39) |
K408E |
possibly damaging |
Het |
| Myh14 |
T |
A |
7: 44,264,927 (GRCm39) |
R1653* |
probably null |
Het |
| Naa16 |
A |
T |
14: 79,593,311 (GRCm39) |
H420Q |
probably damaging |
Het |
| Nol8 |
T |
A |
13: 49,815,224 (GRCm39) |
V426E |
possibly damaging |
Het |
| Or1i2 |
A |
T |
10: 78,447,901 (GRCm39) |
D191E |
possibly damaging |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Papln |
C |
T |
12: 83,830,166 (GRCm39) |
T1012I |
probably null |
Het |
| Pkd1 |
A |
G |
17: 24,789,004 (GRCm39) |
T921A |
probably benign |
Het |
| Pknox1 |
C |
A |
17: 31,821,790 (GRCm39) |
Q294K |
probably damaging |
Het |
| Ppp2ca |
A |
G |
11: 51,989,928 (GRCm39) |
N18S |
probably benign |
Het |
| Serpinb9d |
A |
G |
13: 33,386,657 (GRCm39) |
|
probably null |
Het |
| Sfxn5 |
T |
A |
6: 85,192,724 (GRCm39) |
E319V |
probably benign |
Het |
| Slc1a1 |
A |
G |
19: 28,878,852 (GRCm39) |
K197R |
probably benign |
Het |
| Spef2 |
A |
G |
15: 9,667,366 (GRCm39) |
F774S |
probably damaging |
Het |
| Syp |
A |
G |
X: 7,506,166 (GRCm39) |
|
probably null |
Het |
| Zfp276 |
A |
G |
8: 123,994,564 (GRCm39) |
T544A |
probably 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCAATGACTAGCCTCAGG -3'
(R):5'- TTGTAGTGATTTCAGCAGCCAGAC -3'
Sequencing Primer
(F):5'- CTCAGGCGTGTATGCTCAG -3'
(R):5'- CGCATCTGCACAAATACCTGGTG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation