Incidental Mutation 'IGL01094:Il22ra1'
| ID |
50886 |
| 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 # |
IGL01094
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
135455483-135479451 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 135478395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 489
(P489T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099605
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102546]
|
| AlphaFold |
Q80XZ4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102546
AA Change: P489T
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099605
Gene: ENSMUSG00000037157
AA Change: P489T
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adss2 |
A |
T |
1: 177,612,508 (GRCm39) |
H80Q |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,847,959 (GRCm39) |
N456D |
probably damaging |
Het |
| Alpk2 |
T |
G |
18: 65,439,673 (GRCm39) |
E573D |
probably damaging |
Het |
| Axin2 |
G |
A |
11: 108,814,501 (GRCm39) |
V130M |
probably damaging |
Het |
| Cadm4 |
T |
C |
7: 24,202,184 (GRCm39) |
L341P |
possibly damaging |
Het |
| Col20a1 |
G |
A |
2: 180,641,559 (GRCm39) |
C625Y |
probably damaging |
Het |
| Col6a3 |
T |
G |
1: 90,731,655 (GRCm39) |
I1533L |
possibly damaging |
Het |
| Dusp10 |
A |
T |
1: 183,769,697 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
A |
6: 84,171,368 (GRCm39) |
I1837N |
probably damaging |
Het |
| Fbxw19 |
A |
G |
9: 109,322,614 (GRCm39) |
S119P |
probably benign |
Het |
| Il7r |
A |
T |
15: 9,508,085 (GRCm39) |
N412K |
possibly damaging |
Het |
| Kdr |
A |
T |
5: 76,122,420 (GRCm39) |
Y502N |
probably benign |
Het |
| Med12l |
T |
A |
3: 59,001,076 (GRCm39) |
L713H |
probably damaging |
Het |
| Nfxl1 |
A |
G |
5: 72,707,771 (GRCm39) |
|
probably benign |
Het |
| Or4a70 |
A |
G |
2: 89,324,182 (GRCm39) |
V158A |
probably benign |
Het |
| Piezo1 |
T |
A |
8: 123,208,877 (GRCm39) |
E2495D |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,410,325 (GRCm39) |
F2611L |
probably benign |
Het |
| Pld2 |
T |
C |
11: 70,432,132 (GRCm39) |
C84R |
probably damaging |
Het |
| Prss3l |
A |
G |
6: 41,420,357 (GRCm39) |
V123A |
possibly damaging |
Het |
| Scfd2 |
G |
T |
5: 74,691,707 (GRCm39) |
P192T |
possibly damaging |
Het |
| Tm4sf19 |
A |
G |
16: 32,224,772 (GRCm39) |
N40S |
possibly damaging |
Het |
| Tmc2 |
T |
C |
2: 130,102,086 (GRCm39) |
|
probably benign |
Het |
| Tmem217 |
T |
C |
17: 29,745,566 (GRCm39) |
R55G |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,734,592 (GRCm39) |
D3205G |
possibly damaging |
Het |
| Vps13c |
A |
G |
9: 67,793,566 (GRCm39) |
N440D |
probably damaging |
Het |
| Wdr35 |
T |
C |
12: 9,055,838 (GRCm39) |
|
probably benign |
Het |
| Zfp110 |
T |
A |
7: 12,583,723 (GRCm39) |
H790Q |
probably damaging |
Het |
|
| Other mutations in Il22ra1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01480:Il22ra1
|
APN |
4 |
135,472,112 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
2013-06-21 |
Incidental Mutation