Incidental Mutation 'IGL01480:Il22ra1'
ID |
88568 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Il22ra1
|
Ensembl Gene |
ENSMUSG00000037157 |
Gene Name |
interleukin 22 receptor, alpha 1 |
Synonyms |
Il22r |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01480
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
135455483-135479451 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 135472112 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 216
(V216A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099605
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102546]
|
AlphaFold |
Q80XZ4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000102546
AA Change: V216A
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000099605 Gene: ENSMUSG00000037157 AA Change: V216A
Domain | Start | End | E-Value | Type |
Pfam:Tissue_fac
|
4 |
106 |
1.1e-29 |
PFAM |
Pfam:Interfer-bind
|
119 |
214 |
7.5e-7 |
PFAM |
transmembrane domain
|
227 |
249 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
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 belongs to the class II cytokine receptor family, and has been shown to be a receptor for interleukin 22 (IL22). IL22 receptor is a protein complex that consists of this protein and interleukin 10 receptor, beta (IL10BR/CRFB4), a subunit also shared by the receptor complex for interleukin 10 (IL10). This gene and interleukin 28 receptor, alpha (IL28RA) form a cytokine receptor gene cluster in the chromosomal region 1p36. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck1 |
T |
A |
12: 88,423,635 (GRCm39) |
C379* |
probably null |
Het |
Ankrd10 |
A |
G |
8: 11,685,592 (GRCm39) |
V9A |
probably benign |
Het |
Ankrd13a |
A |
T |
5: 114,938,879 (GRCm39) |
|
probably benign |
Het |
Bbs1 |
T |
C |
19: 4,944,421 (GRCm39) |
K403E |
probably damaging |
Het |
Ccn3 |
A |
G |
15: 54,615,687 (GRCm39) |
Y284C |
probably damaging |
Het |
Cd200r2 |
A |
G |
16: 44,729,629 (GRCm39) |
I95V |
probably null |
Het |
Cyba |
T |
C |
8: 123,151,684 (GRCm39) |
E171G |
probably benign |
Het |
Dnah2 |
T |
A |
11: 69,349,197 (GRCm39) |
M2480L |
possibly damaging |
Het |
Fxyd7 |
A |
T |
7: 30,746,799 (GRCm39) |
Y20* |
probably null |
Het |
Mapk10 |
G |
A |
5: 103,074,018 (GRCm39) |
|
probably benign |
Het |
Mgat5b |
C |
A |
11: 116,869,278 (GRCm39) |
T607K |
probably benign |
Het |
Optn |
G |
A |
2: 5,050,829 (GRCm39) |
S184L |
probably benign |
Het |
Or10d5 |
G |
A |
9: 39,861,284 (GRCm39) |
A261V |
probably benign |
Het |
Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
Or1p1c |
A |
T |
11: 74,160,427 (GRCm39) |
I71L |
possibly damaging |
Het |
Or7a42 |
T |
C |
10: 78,791,978 (GRCm39) |
|
probably benign |
Het |
Plxna1 |
A |
G |
6: 89,321,078 (GRCm39) |
L462P |
possibly damaging |
Het |
Prkca |
C |
T |
11: 108,083,027 (GRCm39) |
V73M |
probably damaging |
Het |
Prkca |
A |
G |
11: 107,877,115 (GRCm39) |
F339L |
possibly damaging |
Het |
Ptch2 |
T |
C |
4: 116,971,279 (GRCm39) |
V1062A |
probably damaging |
Het |
Serpina11 |
T |
A |
12: 103,949,110 (GRCm39) |
K354* |
probably null |
Het |
Sf1 |
T |
C |
19: 6,422,052 (GRCm39) |
|
probably benign |
Het |
Stam2 |
A |
G |
2: 52,606,451 (GRCm39) |
S112P |
probably benign |
Het |
Tlr5 |
G |
A |
1: 182,801,064 (GRCm39) |
E123K |
probably benign |
Het |
Tpp1 |
T |
C |
7: 105,398,260 (GRCm39) |
E301G |
probably damaging |
Het |
Vmn2r58 |
T |
A |
7: 41,514,116 (GRCm39) |
I176F |
probably benign |
Het |
|
Other mutations in Il22ra1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01094:Il22ra1
|
APN |
4 |
135,478,395 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL02533:Il22ra1
|
APN |
4 |
135,472,034 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0137:Il22ra1
|
UTSW |
4 |
135,478,317 (GRCm39) |
missense |
probably benign |
0.00 |
R0196:Il22ra1
|
UTSW |
4 |
135,461,556 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1647:Il22ra1
|
UTSW |
4 |
135,477,771 (GRCm39) |
missense |
probably damaging |
0.98 |
R1800:Il22ra1
|
UTSW |
4 |
135,475,471 (GRCm39) |
missense |
probably benign |
0.10 |
R1901:Il22ra1
|
UTSW |
4 |
135,478,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R1902:Il22ra1
|
UTSW |
4 |
135,478,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R1903:Il22ra1
|
UTSW |
4 |
135,478,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R1906:Il22ra1
|
UTSW |
4 |
135,478,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R4278:Il22ra1
|
UTSW |
4 |
135,478,024 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4404:Il22ra1
|
UTSW |
4 |
135,464,742 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5001:Il22ra1
|
UTSW |
4 |
135,460,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R6666:Il22ra1
|
UTSW |
4 |
135,477,772 (GRCm39) |
missense |
probably damaging |
0.98 |
R7054:Il22ra1
|
UTSW |
4 |
135,478,473 (GRCm39) |
missense |
probably benign |
0.00 |
R7615:Il22ra1
|
UTSW |
4 |
135,464,770 (GRCm39) |
missense |
probably benign |
0.16 |
R7644:Il22ra1
|
UTSW |
4 |
135,460,346 (GRCm39) |
missense |
probably damaging |
1.00 |
R7754:Il22ra1
|
UTSW |
4 |
135,461,561 (GRCm39) |
missense |
probably benign |
0.01 |
R7808:Il22ra1
|
UTSW |
4 |
135,478,107 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8024:Il22ra1
|
UTSW |
4 |
135,461,589 (GRCm39) |
missense |
probably benign |
0.43 |
R8383:Il22ra1
|
UTSW |
4 |
135,461,451 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Il22ra1
|
UTSW |
4 |
135,464,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-11-18 |