Incidental Mutation 'R0009:Il22ra2'
| ID |
8056 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il22ra2
|
| Ensembl Gene |
ENSMUSG00000039760 |
| Gene Name |
interleukin 22 receptor, alpha 2 |
| Synonyms |
Il-22bp |
| MMRRC Submission |
038304-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0009 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
19497776-19510429 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 19500206 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 39
(N39I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042642
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036564]
|
| AlphaFold |
Q80XF5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036564
AA Change: N39I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042642
Gene: ENSMUSG00000039760
AA Change: N39I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tissue_fac
|
6 |
113 |
3.4e-37 |
PFAM |
|
Pfam:Interfer-bind
|
125 |
230 |
1.4e-26 |
PFAM |
|
| Meta Mutation Damage Score |
0.8924 |
| Coding Region Coverage |
- 1x: 79.7%
- 3x: 70.1%
- 10x: 44.5%
- 20x: 24.1%
|
| Validation Efficiency |
93% (78/84) |
| 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 class II cytokine receptor family. The encoded soluble protein specifically binds to and inhibits interleukin 22 activity by blocking the interaction of interleukin 22 with its cell surface receptor. The encoded protein may be important in the regulation of inflammatory response, and has been implicated in the regulation of tumorigenesis in the colon. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a null mutation display accelerated tumor formation in a colitis associated colon cancer model. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
T |
G |
15: 60,791,482 (GRCm39) |
|
probably benign |
Het |
| Afm |
C |
A |
5: 90,693,243 (GRCm39) |
|
probably benign |
Het |
| Aplnr |
T |
A |
2: 84,967,620 (GRCm39) |
|
probably null |
Het |
| Arih2 |
T |
A |
9: 108,488,926 (GRCm39) |
H264L |
probably damaging |
Het |
| Ccdc116 |
T |
C |
16: 16,961,903 (GRCm39) |
E15G |
probably damaging |
Het |
| Cfap53 |
A |
G |
18: 74,432,247 (GRCm39) |
H45R |
probably benign |
Het |
| Chd3 |
A |
G |
11: 69,240,732 (GRCm39) |
L1569P |
probably damaging |
Het |
| Cntn2 |
G |
A |
1: 132,443,918 (GRCm39) |
Q457* |
probably null |
Het |
| Coro1a |
A |
T |
7: 126,300,585 (GRCm39) |
|
probably benign |
Het |
| Cracr2b |
T |
A |
7: 141,043,672 (GRCm39) |
L91Q |
probably damaging |
Het |
| Ctdspl |
T |
C |
9: 118,849,114 (GRCm39) |
|
probably null |
Het |
| Dnase1 |
T |
C |
16: 3,856,810 (GRCm39) |
V147A |
probably damaging |
Het |
| Glud1 |
G |
A |
14: 34,056,225 (GRCm39) |
G300S |
probably benign |
Het |
| Gm4847 |
C |
T |
1: 166,458,055 (GRCm39) |
V433I |
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,857,560 (GRCm39) |
S4048P |
probably benign |
Het |
| Hp1bp3 |
T |
A |
4: 137,948,994 (GRCm39) |
I19K |
probably benign |
Het |
| Il1a |
C |
T |
2: 129,150,994 (GRCm39) |
D10N |
probably damaging |
Het |
| Magi2 |
A |
T |
5: 20,816,053 (GRCm39) |
Y747F |
probably benign |
Het |
| Mcc |
C |
T |
18: 44,579,000 (GRCm39) |
E803K |
probably damaging |
Het |
| Rims2 |
T |
A |
15: 39,398,362 (GRCm39) |
M1087K |
probably damaging |
Het |
| Riox2 |
C |
A |
16: 59,309,730 (GRCm39) |
D361E |
probably benign |
Het |
| Slc35e1 |
A |
T |
8: 73,238,553 (GRCm39) |
N318K |
probably damaging |
Het |
| Slc9a2 |
A |
T |
1: 40,802,762 (GRCm39) |
E604V |
probably benign |
Het |
| Tbx19 |
A |
T |
1: 164,988,089 (GRCm39) |
S15T |
possibly damaging |
Het |
| Tm4sf5 |
C |
T |
11: 70,401,538 (GRCm39) |
A179V |
probably damaging |
Het |
| Trappc11 |
A |
T |
8: 47,956,355 (GRCm39) |
C874S |
possibly damaging |
Het |
| Trpm3 |
T |
A |
19: 22,891,810 (GRCm39) |
Y885N |
probably damaging |
Het |
| Unc5a |
T |
A |
13: 55,150,692 (GRCm39) |
C505S |
probably damaging |
Het |
| Xpo5 |
T |
C |
17: 46,515,712 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Il22ra2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02572:Il22ra2
|
APN |
10 |
19,502,492 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02835:Il22ra2
|
UTSW |
10 |
19,502,424 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0009:Il22ra2
|
UTSW |
10 |
19,500,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1687:Il22ra2
|
UTSW |
10 |
19,508,620 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1802:Il22ra2
|
UTSW |
10 |
19,502,447 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2138:Il22ra2
|
UTSW |
10 |
19,508,618 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2139:Il22ra2
|
UTSW |
10 |
19,508,618 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3936:Il22ra2
|
UTSW |
10 |
19,507,456 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4063:Il22ra2
|
UTSW |
10 |
19,502,400 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4559:Il22ra2
|
UTSW |
10 |
19,502,460 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7578:Il22ra2
|
UTSW |
10 |
19,507,372 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7661:Il22ra2
|
UTSW |
10 |
19,497,826 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8720:Il22ra2
|
UTSW |
10 |
19,508,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8897:Il22ra2
|
UTSW |
10 |
19,507,401 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9483:Il22ra2
|
UTSW |
10 |
19,508,542 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
| Posted On |
2012-11-20 |
Incidental Mutation