Incidental Mutation 'R4278:Il22ra1'
| ID |
322760 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il22ra1
|
| Ensembl Gene |
ENSMUSG00000037157 |
| Gene Name |
interleukin 22 receptor, alpha 1 |
| Synonyms |
Il22r |
| MMRRC Submission |
068968-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4278 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
135455483-135479451 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 135478024 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 365
(A365V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099605
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102546]
|
| AlphaFold |
Q80XZ4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102546
AA Change: A365V
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099605
Gene: ENSMUSG00000037157
AA Change: A365V
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anln |
A |
G |
9: 22,245,296 (GRCm39) |
|
probably null |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Bltp3b |
T |
G |
10: 89,642,571 (GRCm39) |
|
probably null |
Het |
| Capza3 |
T |
A |
6: 139,987,786 (GRCm39) |
Y128* |
probably null |
Het |
| Ccdc187 |
T |
A |
2: 26,172,239 (GRCm39) |
|
probably benign |
Het |
| Dpp4 |
T |
C |
2: 62,209,667 (GRCm39) |
R119G |
probably damaging |
Het |
| Espn |
T |
C |
4: 152,218,874 (GRCm39) |
D308G |
probably damaging |
Het |
| Gm9857 |
T |
C |
3: 108,847,419 (GRCm39) |
|
probably benign |
Het |
| Hhatl |
G |
A |
9: 121,613,285 (GRCm39) |
A470V |
probably benign |
Het |
| Igfals |
A |
T |
17: 25,100,191 (GRCm39) |
E427D |
probably benign |
Het |
| Kctd6 |
G |
C |
14: 8,222,806 (GRCm38) |
R216P |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,098,512 (GRCm39) |
M1864L |
probably null |
Het |
| Mbd5 |
T |
G |
2: 49,162,305 (GRCm39) |
I37S |
probably damaging |
Het |
| Nsf |
C |
A |
11: 103,821,632 (GRCm39) |
A5S |
probably damaging |
Het |
| Nsun5 |
A |
G |
5: 135,398,914 (GRCm39) |
Y26C |
probably damaging |
Het |
| Or9q1 |
A |
G |
19: 13,805,793 (GRCm39) |
|
probably benign |
Het |
| Pitpnm3 |
C |
T |
11: 71,965,342 (GRCm39) |
V164I |
probably damaging |
Het |
| Plk2 |
A |
G |
13: 110,532,637 (GRCm39) |
K117R |
probably benign |
Het |
| Ppp1r13b |
G |
T |
12: 111,796,818 (GRCm39) |
N908K |
probably damaging |
Het |
| Rapgef4 |
T |
A |
2: 72,028,739 (GRCm39) |
N385K |
possibly damaging |
Het |
| Rbp3 |
G |
A |
14: 33,680,607 (GRCm39) |
V1070I |
probably benign |
Het |
| Rhbdd3 |
C |
T |
11: 5,055,329 (GRCm39) |
T226I |
probably benign |
Het |
| Slc27a3 |
C |
T |
3: 90,296,495 (GRCm39) |
|
probably benign |
Het |
| Slc30a2 |
G |
A |
4: 134,073,360 (GRCm39) |
E136K |
probably null |
Het |
| Sptlc2 |
A |
C |
12: 87,382,925 (GRCm39) |
I393R |
probably benign |
Het |
| Tmem260 |
C |
T |
14: 48,715,093 (GRCm39) |
T249M |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Vmn1r80 |
G |
T |
7: 11,927,454 (GRCm39) |
C188F |
probably benign |
Het |
| Vwa2 |
C |
A |
19: 56,891,915 (GRCm39) |
Q283K |
probably benign |
Het |
| Zfp52 |
A |
G |
17: 21,782,132 (GRCm39) |
K660R |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATCCAGTACTCCCAAGTGGTG -3'
(R):5'- TTCCTGGAGCTGACCTTTTG -3'
Sequencing Primer
(F):5'- GTGGTGTCTGGGCCCAG -3'
(R):5'- CCTGGAGCTGACCTTTTGTCTTG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation