Incidental Mutation 'IGL01490:Il20rb'
| ID |
88832 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Il20rb
|
| Ensembl Gene |
ENSMUSG00000044244 |
| Gene Name |
interleukin 20 receptor beta |
| Synonyms |
LOC213208, Il20R2, Fndc6 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01490
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
100339772-100368526 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 100355207 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 79
(I79F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098458]
|
| AlphaFold |
E9Q9A6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098458
AA Change: I79F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096057
Gene: ENSMUSG00000044244
AA Change: I79F
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
G |
2: 25,336,023 (GRCm39) |
Y2131C |
probably damaging |
Het |
| Ano6 |
T |
A |
15: 95,846,291 (GRCm39) |
S510T |
probably benign |
Het |
| Asb16 |
A |
T |
11: 102,167,575 (GRCm39) |
N314Y |
probably damaging |
Het |
| Atp6v0b |
G |
A |
4: 117,742,303 (GRCm39) |
Q150* |
probably null |
Het |
| Chct1 |
A |
G |
11: 85,069,138 (GRCm39) |
D52G |
probably damaging |
Het |
| Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
| Cmklr2 |
T |
C |
1: 63,222,455 (GRCm39) |
Y260C |
probably damaging |
Het |
| Crim1 |
A |
G |
17: 78,642,725 (GRCm39) |
D481G |
possibly damaging |
Het |
| Dnajb2 |
T |
C |
1: 75,213,534 (GRCm39) |
S3P |
probably damaging |
Het |
| Dnajb9 |
A |
T |
12: 44,253,869 (GRCm39) |
S179R |
possibly damaging |
Het |
| Dock2 |
A |
T |
11: 34,596,608 (GRCm39) |
I416N |
probably damaging |
Het |
| Dock7 |
G |
T |
4: 98,833,355 (GRCm39) |
|
probably benign |
Het |
| Eif6 |
T |
C |
2: 155,668,102 (GRCm39) |
I46V |
probably benign |
Het |
| Fcgr1 |
T |
C |
3: 96,191,686 (GRCm39) |
D374G |
probably benign |
Het |
| Gatad2b |
A |
G |
3: 90,259,385 (GRCm39) |
I374V |
possibly damaging |
Het |
| Gfpt2 |
T |
C |
11: 49,717,954 (GRCm39) |
|
probably benign |
Het |
| H2-M10.2 |
G |
T |
17: 36,596,377 (GRCm39) |
T156K |
probably damaging |
Het |
| Kcnip3 |
C |
T |
2: 127,352,799 (GRCm39) |
R44H |
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,057,579 (GRCm39) |
D551V |
possibly damaging |
Het |
| Mex3b |
C |
A |
7: 82,519,035 (GRCm39) |
P450Q |
possibly damaging |
Het |
| Mmp20 |
T |
C |
9: 7,628,330 (GRCm39) |
L26P |
probably benign |
Het |
| Msh3 |
G |
A |
13: 92,436,813 (GRCm39) |
T499M |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 112,957,566 (GRCm39) |
S1466G |
possibly damaging |
Het |
| Myom3 |
A |
G |
4: 135,538,089 (GRCm39) |
R1324G |
possibly damaging |
Het |
| Nxph3 |
A |
G |
11: 95,401,919 (GRCm39) |
I165T |
possibly damaging |
Het |
| Prex2 |
G |
A |
1: 11,254,769 (GRCm39) |
|
probably null |
Het |
| Ptpn6 |
T |
A |
6: 124,705,307 (GRCm39) |
E208V |
probably damaging |
Het |
| Qpct |
T |
C |
17: 79,397,169 (GRCm39) |
V354A |
probably benign |
Het |
| Rfx4 |
A |
G |
10: 84,676,715 (GRCm39) |
I108V |
possibly damaging |
Het |
| Tmem67 |
A |
G |
4: 12,057,422 (GRCm39) |
|
probably benign |
Het |
| Trappc12 |
A |
T |
12: 28,796,914 (GRCm39) |
I206N |
probably damaging |
Het |
| Vmn1r173 |
A |
T |
7: 23,402,132 (GRCm39) |
K122N |
probably benign |
Het |
| Wdr35 |
G |
T |
12: 9,027,381 (GRCm39) |
G54V |
probably damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,291,147 (GRCm39) |
C2153S |
probably damaging |
Het |
|
| Other mutations in Il20rb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R6448:Il20rb
|
UTSW |
9 |
100,356,986 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
| Posted On |
2013-11-18 |
Incidental Mutation