Incidental Mutation 'R2227:Il17rb'
| ID |
239807 |
| 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 |
040228-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R2227 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
29718125-29730853 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29728038 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 56
(S56R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117802
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016110]
[ENSMUST00000067620]
[ENSMUST00000122205]
[ENSMUST00000135888]
[ENSMUST00000136726]
[ENSMUST00000224797]
|
| AlphaFold |
Q9JIP3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016110
AA Change: S56R
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000016110
Gene: ENSMUSG00000015966
AA Change: S56R
| 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 |
probably benign
Transcript: ENSMUST00000122205
AA Change: S56R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000113686
Gene: ENSMUSG00000015966
AA Change: S56R
| 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 |
noncoding transcript
Transcript: ENSMUST00000125796
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135888
AA Change: S56R
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000121407
Gene: ENSMUSG00000015966
AA Change: S56R
| 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: S56R
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000117802
Gene: ENSMUSG00000015966
AA Change: S56R
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3JVF|C
|
13 |
171 |
5e-12 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224797
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563I02Rik |
T |
A |
14: 60,325,668 (GRCm39) |
|
probably benign |
Het |
| Abtb1 |
A |
C |
6: 88,813,349 (GRCm39) |
L439R |
probably damaging |
Het |
| Adcy10 |
A |
G |
1: 165,345,829 (GRCm39) |
T293A |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,581,961 (GRCm39) |
V306D |
possibly damaging |
Het |
| Alpk2 |
T |
A |
18: 65,511,147 (GRCm39) |
T17S |
probably damaging |
Het |
| Ar |
T |
A |
X: 97,194,937 (GRCm39) |
M517K |
probably benign |
Het |
| Atg9b |
A |
G |
5: 24,591,393 (GRCm39) |
V735A |
possibly damaging |
Het |
| BB014433 |
C |
A |
8: 15,091,717 (GRCm39) |
A379S |
probably benign |
Het |
| Ccdc33 |
A |
G |
9: 57,989,305 (GRCm39) |
S123P |
probably damaging |
Het |
| Ccl2 |
G |
T |
11: 81,927,427 (GRCm39) |
|
probably null |
Het |
| Cct2 |
T |
C |
10: 116,888,922 (GRCm39) |
R526G |
probably null |
Het |
| Cep55 |
T |
C |
19: 38,051,082 (GRCm39) |
M164T |
probably benign |
Het |
| Clec2d |
G |
A |
6: 129,161,214 (GRCm39) |
A104T |
probably benign |
Het |
| Cyp3a11 |
A |
G |
5: 145,805,357 (GRCm39) |
L220P |
possibly damaging |
Het |
| Dgkk |
T |
A |
X: 6,741,487 (GRCm39) |
D102E |
probably damaging |
Het |
| Emcn |
T |
C |
3: 137,109,778 (GRCm39) |
I140T |
possibly damaging |
Het |
| Exoc2 |
T |
A |
13: 31,048,867 (GRCm39) |
I729L |
probably benign |
Het |
| Fbxl20 |
T |
C |
11: 97,981,675 (GRCm39) |
I338V |
probably benign |
Het |
| Gucy2c |
G |
A |
6: 136,679,758 (GRCm39) |
T943I |
probably damaging |
Het |
| Hdac9 |
C |
T |
12: 34,457,801 (GRCm39) |
V251I |
probably benign |
Het |
| Hoxa10 |
T |
C |
6: 52,209,616 (GRCm39) |
E52G |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,902,481 (GRCm39) |
D1394G |
probably damaging |
Het |
| Kpna1 |
G |
A |
16: 35,851,591 (GRCm39) |
A392T |
probably damaging |
Het |
| Krt6b |
A |
G |
15: 101,587,557 (GRCm39) |
V179A |
probably damaging |
Het |
| Lpar5 |
A |
T |
6: 125,058,098 (GRCm39) |
|
probably null |
Het |
| Marchf7 |
A |
G |
2: 60,060,190 (GRCm39) |
R106G |
probably benign |
Het |
| Mtus1 |
C |
T |
8: 41,535,812 (GRCm39) |
V635M |
probably damaging |
Het |
| Myl1 |
T |
C |
1: 66,983,974 (GRCm39) |
K31E |
possibly damaging |
Het |
| Myt1l |
T |
A |
12: 29,876,969 (GRCm39) |
L207I |
unknown |
Het |
| Naalad2 |
A |
T |
9: 18,287,829 (GRCm39) |
V267E |
possibly damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,376,188 (GRCm39) |
I950T |
possibly damaging |
Het |
| Ppp1r9a |
G |
T |
6: 5,154,074 (GRCm39) |
R1081L |
probably benign |
Het |
| Rc3h1 |
T |
C |
1: 160,791,112 (GRCm39) |
I932T |
probably benign |
Het |
| Rubcnl |
G |
A |
14: 75,279,832 (GRCm39) |
R405Q |
probably benign |
Het |
| Saxo5 |
A |
G |
8: 3,529,249 (GRCm39) |
T245A |
probably benign |
Het |
| Sgsm3 |
A |
G |
15: 80,888,069 (GRCm39) |
E53G |
probably damaging |
Het |
| Slco1a8 |
T |
G |
6: 141,938,087 (GRCm39) |
E277D |
possibly damaging |
Het |
| Spin2g |
A |
T |
X: 33,656,599 (GRCm39) |
I171N |
possibly damaging |
Het |
| Srsf6 |
G |
A |
2: 162,773,619 (GRCm39) |
S10N |
probably damaging |
Het |
| Tesl2 |
T |
A |
X: 23,825,173 (GRCm39) |
M1L |
probably null |
Het |
| Thoc2l |
T |
A |
5: 104,667,286 (GRCm39) |
Y603N |
probably damaging |
Het |
| Tnn |
A |
T |
1: 159,975,035 (GRCm39) |
C131S |
probably damaging |
Het |
| Tnnt2 |
A |
G |
1: 135,771,529 (GRCm39) |
|
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Vmn1r86 |
T |
C |
7: 12,836,847 (GRCm39) |
I10V |
probably benign |
Het |
| Xpot |
T |
C |
10: 121,458,765 (GRCm39) |
R20G |
probably damaging |
Het |
| Zfp735 |
T |
A |
11: 73,602,222 (GRCm39) |
L389I |
possibly damaging |
Het |
| Zfp735 |
T |
G |
11: 73,602,223 (GRCm39) |
L389* |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCACGGTAGGCATGATTATAG -3'
(R):5'- CCTTAGCAGAAGTGAGCTGTG -3'
Sequencing Primer
(F):5'- CTCATAGCTGTACTGAGTTCCAAAG -3'
(R):5'- CTTAGCAGAAGTGAGCTGTGAACAG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation