Incidental Mutation 'R6448:Il20rb'
| ID |
519253 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il20rb
|
| Ensembl Gene |
ENSMUSG00000044244 |
| Gene Name |
interleukin 20 receptor beta |
| Synonyms |
LOC213208, Il20R2, Fndc6 |
| MMRRC Submission |
044584-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6448 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
100339772-100368526 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100356986 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 48
(M48K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098458]
|
| AlphaFold |
E9Q9A6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098458
AA Change: M48K
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000096057
Gene: ENSMUSG00000044244
AA Change: M48K
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
30 |
117 |
9.09e0 |
SMART |
|
Pfam:Interfer-bind
|
131 |
222 |
7.6e-9 |
PFAM |
|
transmembrane domain
|
228 |
250 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122880
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152756
|
| Meta Mutation Damage Score |
0.0746 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
97% (32/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] IL20RB and IL20RA (MIM 605620) form a heterodimeric receptor for interleukin-20 (IL20; MIM 605619) (Blumberg et al., 2001 [PubMed 11163236]).[supplied by OMIM, Feb 2009]
PHENOTYPE: Mice homozygous for a knock-out allele display enhanced antigen-specific T cell responses. Mice homozygous for a reporter allele fail to exhibit epidermal hyperplasia in an interleukin-23 (IL-23)-dependent psoriasis mouse model. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap5 |
A |
T |
12: 52,564,446 (GRCm39) |
K472N |
probably benign |
Het |
| C2 |
T |
G |
17: 35,082,335 (GRCm39) |
D298A |
possibly damaging |
Het |
| Col16a1 |
T |
G |
4: 129,952,781 (GRCm39) |
L409R |
probably damaging |
Het |
| Dlgap1 |
A |
G |
17: 70,900,325 (GRCm39) |
E380G |
possibly damaging |
Het |
| Fam111a |
C |
A |
19: 12,565,701 (GRCm39) |
H483Q |
probably benign |
Het |
| Fancc |
C |
T |
13: 63,488,242 (GRCm39) |
R246Q |
probably damaging |
Het |
| Glb1 |
A |
T |
9: 114,263,499 (GRCm39) |
Q256L |
probably damaging |
Het |
| Gm9195 |
A |
T |
14: 72,671,451 (GRCm39) |
D2611E |
possibly damaging |
Het |
| Gsto1 |
C |
T |
19: 47,846,420 (GRCm39) |
T89I |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,310,832 (GRCm39) |
S3359G |
probably benign |
Het |
| Hook3 |
T |
A |
8: 26,583,692 (GRCm39) |
N87I |
probably benign |
Het |
| Htt |
T |
A |
5: 35,033,336 (GRCm39) |
M1868K |
probably benign |
Het |
| Ighv1-19 |
T |
C |
12: 114,672,296 (GRCm39) |
E107G |
probably damaging |
Het |
| Inpp5j |
T |
C |
11: 3,445,387 (GRCm39) |
H822R |
probably damaging |
Het |
| Kif14 |
G |
T |
1: 136,431,085 (GRCm39) |
V1161F |
probably damaging |
Het |
| Klhdc2 |
T |
A |
12: 69,350,694 (GRCm39) |
D169E |
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,129,389 (GRCm39) |
|
probably null |
Het |
| Myh15 |
T |
G |
16: 48,992,295 (GRCm39) |
S1590A |
probably damaging |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
C |
2: 52,038,826 (GRCm39) |
D6748G |
probably damaging |
Het |
| Nfrkb |
T |
C |
9: 31,306,085 (GRCm39) |
Y142H |
probably damaging |
Het |
| Or6c208 |
A |
T |
10: 129,224,021 (GRCm39) |
D173V |
probably damaging |
Het |
| Or7a39 |
G |
A |
10: 78,715,516 (GRCm39) |
C170Y |
possibly damaging |
Het |
| Or8k20 |
T |
A |
2: 86,106,691 (GRCm39) |
I47F |
probably benign |
Het |
| Prm2 |
G |
A |
16: 10,609,825 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
T |
C |
12: 55,766,446 (GRCm39) |
T1283A |
probably benign |
Het |
| Rest |
T |
C |
5: 77,429,318 (GRCm39) |
L579P |
possibly damaging |
Het |
| Slc6a1 |
C |
T |
6: 114,279,047 (GRCm39) |
T46I |
possibly damaging |
Het |
| Tcf20 |
A |
G |
15: 82,736,861 (GRCm39) |
I1530T |
probably benign |
Het |
| Tox |
T |
G |
4: 6,822,975 (GRCm39) |
D114A |
probably benign |
Het |
| Ulk4 |
C |
T |
9: 120,932,696 (GRCm39) |
G1048D |
probably damaging |
Het |
|
| Other mutations in Il20rb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01490:Il20rb
|
APN |
9 |
100,355,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02943:Il20rb
|
APN |
9 |
100,348,305 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03368:Il20rb
|
APN |
9 |
100,341,174 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03396:Il20rb
|
APN |
9 |
100,341,251 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03412:Il20rb
|
APN |
9 |
100,357,049 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0157:Il20rb
|
UTSW |
9 |
100,355,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4591:Il20rb
|
UTSW |
9 |
100,357,043 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4948:Il20rb
|
UTSW |
9 |
100,343,592 (GRCm39) |
splice site |
probably benign |
|
|
R5622:Il20rb
|
UTSW |
9 |
100,368,371 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7013:Il20rb
|
UTSW |
9 |
100,343,481 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7502:Il20rb
|
UTSW |
9 |
100,350,479 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7916:Il20rb
|
UTSW |
9 |
100,348,304 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8015:Il20rb
|
UTSW |
9 |
100,356,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8234:Il20rb
|
UTSW |
9 |
100,341,263 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9143:Il20rb
|
UTSW |
9 |
100,356,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9381:Il20rb
|
UTSW |
9 |
100,343,541 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9450:Il20rb
|
UTSW |
9 |
100,355,055 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9595:Il20rb
|
UTSW |
9 |
100,368,311 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9727:Il20rb
|
UTSW |
9 |
100,357,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAACACTAAGGGGTGGACTGG -3'
(R):5'- GTCCTGTTGTCACAAAGGCAC -3'
Sequencing Primer
(F):5'- GGTGGACTGGGTAAAACATCTATTC -3'
(R):5'- CCTGTTGTCACAAAGGCACAAGTG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation