Incidental Mutation 'R2097:Il20ra'
| ID |
230319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il20ra
|
| Ensembl Gene |
ENSMUSG00000020007 |
| Gene Name |
interleukin 20 receptor, alpha |
| Synonyms |
|
| MMRRC Submission |
040101-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2097 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
19588318-19635801 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 19635211 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 484
(I484T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020185
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020185]
[ENSMUST00000217389]
|
| AlphaFold |
Q6PHB0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020185
AA Change: I484T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020185
Gene: ENSMUSG00000020007
AA Change: I484T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tissue_fac
|
16 |
126 |
1.8e-33 |
PFAM |
|
Pfam:Interfer-bind
|
138 |
243 |
4.6e-23 |
PFAM |
|
transmembrane domain
|
255 |
277 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217389
|
| Meta Mutation Damage Score |
0.0909 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (43/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type II cytokine receptor family. The encoded protein is a subunit of the receptor for interleukin 20, a cytokine that may be involved in epidermal function. The interleukin 20 receptor is a heterodimeric complex consisting of the encoded protein and interleukin 20 receptor beta. This gene and interleukin 20 receptor beta are highly expressed in skin, and are upregulated in psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased bone mineral density, impaired osteoclast differentiation, and resistance to ovariectomized-inducced bone loss. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Targeted(4)
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
T |
C |
14: 29,709,185 (GRCm39) |
V263A |
probably damaging |
Het |
| Apol6 |
T |
A |
15: 76,931,333 (GRCm39) |
|
probably null |
Het |
| Aqp3 |
C |
T |
4: 41,098,004 (GRCm39) |
V36M |
possibly damaging |
Het |
| Bace1 |
G |
T |
9: 45,771,520 (GRCm39) |
C478F |
probably benign |
Het |
| Bbof1 |
C |
A |
12: 84,460,081 (GRCm39) |
A116D |
probably damaging |
Het |
| Casq1 |
A |
T |
1: 172,037,988 (GRCm39) |
L381Q |
probably damaging |
Het |
| Ccdc138 |
T |
A |
10: 58,397,759 (GRCm39) |
L533* |
probably null |
Het |
| Cdcp3 |
A |
T |
7: 130,783,693 (GRCm39) |
R29* |
probably null |
Het |
| Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
| Cntn6 |
A |
G |
6: 104,838,910 (GRCm39) |
E988G |
probably damaging |
Het |
| Cts6 |
T |
A |
13: 61,343,259 (GRCm39) |
N321Y |
probably damaging |
Het |
| Dnmt1 |
A |
G |
9: 20,821,084 (GRCm39) |
S1269P |
probably benign |
Het |
| Dsg4 |
C |
A |
18: 20,604,101 (GRCm39) |
P856H |
probably damaging |
Het |
| Fndc3a |
C |
A |
14: 72,811,791 (GRCm39) |
|
probably null |
Het |
| Galc |
T |
C |
12: 98,218,291 (GRCm39) |
D187G |
probably benign |
Het |
| Gfm1 |
T |
C |
3: 67,357,079 (GRCm39) |
I384T |
probably damaging |
Het |
| Hacd2 |
A |
G |
16: 34,869,090 (GRCm39) |
I92V |
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,270,431 (GRCm39) |
Y1223N |
probably damaging |
Het |
| Map7 |
G |
T |
10: 20,122,362 (GRCm39) |
V143F |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,348,323 (GRCm39) |
L1893P |
probably damaging |
Het |
| Msh6 |
A |
G |
17: 88,292,844 (GRCm39) |
N533S |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,630,638 (GRCm39) |
D2233G |
probably damaging |
Het |
| Nlrp6 |
A |
T |
7: 140,503,117 (GRCm39) |
T408S |
probably damaging |
Het |
| Notch3 |
A |
T |
17: 32,341,728 (GRCm39) |
L2008Q |
probably damaging |
Het |
| Odad4 |
T |
A |
11: 100,454,408 (GRCm39) |
F398I |
possibly damaging |
Het |
| Or52e19b |
T |
A |
7: 103,032,840 (GRCm39) |
D123V |
probably damaging |
Het |
| Or8k20 |
A |
T |
2: 86,106,383 (GRCm39) |
Y149* |
probably null |
Het |
| Pggt1b |
T |
C |
18: 46,379,695 (GRCm39) |
N296D |
probably benign |
Het |
| Pglyrp3 |
T |
A |
3: 91,935,478 (GRCm39) |
F243I |
possibly damaging |
Het |
| Phip |
T |
C |
9: 82,797,392 (GRCm39) |
H537R |
possibly damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptpdc1 |
T |
A |
13: 48,746,135 (GRCm39) |
|
probably null |
Het |
| Ptprq |
T |
C |
10: 107,489,354 (GRCm39) |
T924A |
probably benign |
Het |
| Pwp2 |
C |
A |
10: 78,013,576 (GRCm39) |
|
probably benign |
Het |
| Slc7a4 |
G |
T |
16: 17,391,319 (GRCm39) |
|
probably null |
Het |
| Tmem132b |
T |
A |
5: 125,715,272 (GRCm39) |
I327K |
probably damaging |
Het |
| Trim9 |
T |
C |
12: 70,393,933 (GRCm39) |
M4V |
probably damaging |
Het |
| Tspan13 |
T |
C |
12: 36,071,829 (GRCm39) |
S128G |
probably benign |
Het |
| Zbtb20 |
A |
G |
16: 43,429,882 (GRCm39) |
D131G |
probably null |
Het |
| Zeb2 |
A |
T |
2: 44,887,168 (GRCm39) |
C615S |
probably damaging |
Het |
| Zfp777 |
C |
T |
6: 48,021,176 (GRCm39) |
D149N |
probably benign |
Het |
| Zfp990 |
A |
G |
4: 145,263,892 (GRCm39) |
K297E |
possibly damaging |
Het |
|
| Other mutations in Il20ra |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01929:Il20ra
|
APN |
10 |
19,635,019 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01936:Il20ra
|
APN |
10 |
19,631,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01958:Il20ra
|
APN |
10 |
19,634,791 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02109:Il20ra
|
APN |
10 |
19,635,253 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02207:Il20ra
|
APN |
10 |
19,627,326 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02234:Il20ra
|
APN |
10 |
19,625,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02959:Il20ra
|
APN |
10 |
19,634,789 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03010:Il20ra
|
APN |
10 |
19,624,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0017:Il20ra
|
UTSW |
10 |
19,635,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0518:Il20ra
|
UTSW |
10 |
19,635,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0521:Il20ra
|
UTSW |
10 |
19,635,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1436:Il20ra
|
UTSW |
10 |
19,625,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1714:Il20ra
|
UTSW |
10 |
19,631,576 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1792:Il20ra
|
UTSW |
10 |
19,635,384 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1852:Il20ra
|
UTSW |
10 |
19,618,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4559:Il20ra
|
UTSW |
10 |
19,625,032 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4970:Il20ra
|
UTSW |
10 |
19,634,691 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5112:Il20ra
|
UTSW |
10 |
19,634,691 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5267:Il20ra
|
UTSW |
10 |
19,625,107 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6543:Il20ra
|
UTSW |
10 |
19,625,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6755:Il20ra
|
UTSW |
10 |
19,626,542 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6845:Il20ra
|
UTSW |
10 |
19,635,059 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7014:Il20ra
|
UTSW |
10 |
19,588,458 (GRCm39) |
missense |
unknown |
|
|
R7190:Il20ra
|
UTSW |
10 |
19,618,689 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8134:Il20ra
|
UTSW |
10 |
19,626,452 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8955:Il20ra
|
UTSW |
10 |
19,635,160 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R9104:Il20ra
|
UTSW |
10 |
19,635,364 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9439:Il20ra
|
UTSW |
10 |
19,618,751 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCAACTGTCCTGTGAGCC -3'
(R):5'- AAGCCTGGCACTAGCTTTC -3'
Sequencing Primer
(F):5'- AACTGTCCTGTGAGCCGGAAG -3'
(R):5'- GGCACTAGCTTTCCATTTGTACATG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation