Incidental Mutation 'R4404:Il22ra1'
ID |
326753 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Il22ra1
|
Ensembl Gene |
ENSMUSG00000037157 |
Gene Name |
interleukin 22 receptor, alpha 1 |
Synonyms |
Il22r |
MMRRC Submission |
041133-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4404 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
135455483-135479451 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 135464742 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 149
(E149D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099605
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102546]
|
AlphaFold |
Q80XZ4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102546
AA Change: E149D
PolyPhen 2
Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000099605 Gene: ENSMUSG00000037157 AA Change: E149D
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: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccdc188 |
A |
G |
16: 18,036,284 (GRCm39) |
Q153R |
probably damaging |
Het |
Cimap3 |
G |
A |
3: 105,908,684 (GRCm39) |
P7L |
probably benign |
Het |
Dop1a |
T |
A |
9: 86,404,866 (GRCm39) |
L1721* |
probably null |
Het |
Fcsk |
T |
A |
8: 111,616,933 (GRCm39) |
T406S |
probably benign |
Het |
Fer |
A |
T |
17: 64,248,284 (GRCm39) |
|
probably null |
Het |
Gprc6a |
T |
C |
10: 51,504,639 (GRCm39) |
I68M |
probably benign |
Het |
Gria4 |
A |
T |
9: 4,464,489 (GRCm39) |
|
probably null |
Het |
Gtf3c4 |
T |
C |
2: 28,716,761 (GRCm39) |
D813G |
probably damaging |
Het |
Hars2 |
G |
T |
18: 36,918,989 (GRCm39) |
C83F |
probably damaging |
Het |
Htr6 |
A |
G |
4: 138,789,513 (GRCm39) |
S251P |
probably benign |
Het |
Igsf10 |
T |
C |
3: 59,236,972 (GRCm39) |
T1070A |
probably benign |
Het |
Lama3 |
G |
A |
18: 12,715,588 (GRCm39) |
M1681I |
probably benign |
Het |
Loxhd1 |
G |
A |
18: 77,518,828 (GRCm39) |
G1878D |
probably damaging |
Het |
Mcc |
G |
A |
18: 44,892,365 (GRCm39) |
T83M |
probably benign |
Het |
Nol11 |
A |
T |
11: 107,064,551 (GRCm39) |
C468S |
probably damaging |
Het |
Nomo1 |
A |
G |
7: 45,706,092 (GRCm39) |
N482S |
probably benign |
Het |
Npy5r |
C |
T |
8: 67,134,644 (GRCm39) |
V50I |
probably benign |
Het |
Or8g21 |
T |
C |
9: 38,905,865 (GRCm39) |
I289V |
possibly damaging |
Het |
Pam |
T |
C |
1: 97,782,446 (GRCm39) |
|
probably benign |
Het |
Pank4 |
C |
T |
4: 155,064,613 (GRCm39) |
T724I |
probably benign |
Het |
Pramel34 |
T |
A |
5: 93,785,572 (GRCm39) |
H236L |
possibly damaging |
Het |
Sertm1 |
C |
T |
3: 54,806,746 (GRCm39) |
C93Y |
probably damaging |
Het |
Slc22a2 |
A |
G |
17: 12,833,651 (GRCm39) |
T444A |
probably damaging |
Het |
Trpm7 |
C |
A |
2: 126,675,635 (GRCm39) |
L489F |
probably damaging |
Het |
Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
Usp25 |
A |
C |
16: 76,912,341 (GRCm39) |
K1020T |
probably damaging |
Het |
Vmn2r76 |
T |
C |
7: 85,877,511 (GRCm39) |
T511A |
probably benign |
Het |
Zdhhc15 |
G |
A |
X: 103,604,294 (GRCm39) |
R322* |
probably null |
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 |
R4278:Il22ra1
|
UTSW |
4 |
135,478,024 (GRCm39) |
missense |
possibly damaging |
0.93 |
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'- TGTTCTTGGACACCTGCCAC -3'
(R):5'- AGCCCTGCAAGGATATTTTCTG -3'
Sequencing Primer
(F):5'- ACCCAAAGGTCTCTTTTCACATG -3'
(R):5'- CCCTGCAAGGATATTTTCTGGGAAG -3'
|
Posted On |
2015-07-07 |