Incidental Mutation 'R0715:Il23r'
| ID |
62812 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il23r
|
| Ensembl Gene |
ENSMUSG00000049093 |
| Gene Name |
interleukin 23 receptor |
| Synonyms |
|
| MMRRC Submission |
038898-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0715 (G1)
|
| Quality Score |
128 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
67399916-67468839 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 67463317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 59
(M59L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113342
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118364]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118364
AA Change: M59L
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000113342
Gene: ENSMUSG00000049093
AA Change: M59L
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
140 |
220 |
1e-1 |
SMART |
|
Blast:FN3
|
235 |
317 |
2e-38 |
BLAST |
|
transmembrane domain
|
388 |
410 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1012 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
98% (61/62) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the receptor for IL23A/IL23. This protein pairs with the receptor molecule IL12RB1/IL12Rbeta1, and both are required for IL23A signaling. This protein associates constitutively with Janus kinase 2 (JAK2), and also binds to transcription activator STAT3 in a ligand-dependent manner. [provided by RefSeq, Jul 2008]
PHENOTYPE: Th17 T cells from homozygous null mice have less secretion of IL-9 upon secondary stimulation. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(6) : Targeted(6)
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
A |
G |
11: 58,179,176 (GRCm39) |
Y170C |
probably damaging |
Het |
| Adcy2 |
C |
T |
13: 69,036,161 (GRCm39) |
V167I |
probably benign |
Het |
| Agl |
A |
G |
3: 116,545,825 (GRCm39) |
Y1324H |
probably damaging |
Het |
| Arhgef37 |
G |
T |
18: 61,641,860 (GRCm39) |
Q170K |
probably damaging |
Het |
| Asah2 |
A |
G |
19: 31,994,176 (GRCm39) |
S390P |
probably damaging |
Het |
| Atp8a1 |
A |
T |
5: 67,932,068 (GRCm39) |
H240Q |
probably benign |
Het |
| Btbd16 |
T |
A |
7: 130,390,557 (GRCm39) |
N151K |
probably damaging |
Het |
| Ccdc73 |
T |
A |
2: 104,803,499 (GRCm39) |
|
probably benign |
Het |
| Cecr2 |
G |
T |
6: 120,735,159 (GRCm39) |
M21I |
probably benign |
Het |
| Ckap2l |
T |
C |
2: 129,127,636 (GRCm39) |
T181A |
probably benign |
Het |
| Col4a3 |
T |
C |
1: 82,629,879 (GRCm39) |
|
probably benign |
Het |
| Cplane1 |
T |
A |
15: 8,252,576 (GRCm39) |
C1933S |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,972,074 (GRCm39) |
|
probably benign |
Het |
| Efcab3 |
T |
C |
11: 104,611,706 (GRCm39) |
L516P |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 16,286,419 (GRCm39) |
T1035A |
probably benign |
Het |
| Fzd8 |
A |
G |
18: 9,212,947 (GRCm39) |
T10A |
unknown |
Het |
| Gm9631 |
C |
A |
11: 121,833,328 (GRCm39) |
C636F |
probably damaging |
Het |
| Gp1ba |
A |
G |
11: 70,531,614 (GRCm39) |
|
probably benign |
Het |
| Gsk3a |
A |
G |
7: 24,931,134 (GRCm39) |
V277A |
probably damaging |
Het |
| H2-M1 |
T |
A |
17: 36,981,120 (GRCm39) |
|
probably benign |
Het |
| Hesx1 |
T |
A |
14: 26,722,809 (GRCm39) |
W45R |
probably damaging |
Het |
| Insc |
T |
A |
7: 114,444,312 (GRCm39) |
V433E |
probably benign |
Het |
| Itga8 |
T |
C |
2: 12,196,053 (GRCm39) |
|
probably benign |
Het |
| Kif13a |
T |
A |
13: 46,966,299 (GRCm39) |
E436V |
probably damaging |
Het |
| Liph |
A |
G |
16: 21,814,100 (GRCm39) |
F7S |
probably benign |
Het |
| Lpar2 |
T |
C |
8: 70,276,823 (GRCm39) |
V204A |
probably damaging |
Het |
| Lrfn4 |
T |
A |
19: 4,662,668 (GRCm39) |
|
probably null |
Het |
| Man2b2 |
A |
T |
5: 36,983,402 (GRCm39) |
D182E |
probably benign |
Het |
| Mmp27 |
T |
C |
9: 7,581,156 (GRCm39) |
|
probably benign |
Het |
| Mrm1 |
A |
G |
11: 84,705,639 (GRCm39) |
|
probably benign |
Het |
| Mtx3 |
T |
C |
13: 92,986,869 (GRCm39) |
S271P |
probably damaging |
Het |
| Myh11 |
A |
T |
16: 14,044,480 (GRCm39) |
M641K |
possibly damaging |
Het |
| Necab2 |
A |
G |
8: 120,197,670 (GRCm39) |
D332G |
probably damaging |
Het |
| Ngfr |
A |
G |
11: 95,465,065 (GRCm39) |
I261T |
possibly damaging |
Het |
| Nrap |
T |
C |
19: 56,345,757 (GRCm39) |
E617G |
probably damaging |
Het |
| Obscn |
G |
T |
11: 58,941,306 (GRCm39) |
T4505K |
probably benign |
Het |
| Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
| Or8b57 |
A |
G |
9: 40,003,807 (GRCm39) |
Y148H |
probably damaging |
Het |
| Osbpl11 |
T |
A |
16: 33,062,100 (GRCm39) |
|
probably benign |
Het |
| Otof |
A |
G |
5: 30,552,041 (GRCm39) |
V301A |
probably damaging |
Het |
| Phf3 |
A |
T |
1: 30,850,919 (GRCm39) |
L1145Q |
probably damaging |
Het |
| Phospho2 |
T |
A |
2: 69,626,540 (GRCm39) |
I232N |
possibly damaging |
Het |
| Pomgnt2 |
T |
A |
9: 121,811,127 (GRCm39) |
K551N |
probably damaging |
Het |
| Ptchd3 |
A |
G |
11: 121,721,984 (GRCm39) |
T286A |
possibly damaging |
Het |
| Rnf213 |
A |
G |
11: 119,331,976 (GRCm39) |
D2396G |
probably damaging |
Het |
| Sh3pxd2b |
A |
G |
11: 32,373,341 (GRCm39) |
E836G |
possibly damaging |
Het |
| Simc1 |
G |
T |
13: 54,673,468 (GRCm39) |
M605I |
possibly damaging |
Het |
| Slc12a3 |
G |
A |
8: 95,056,061 (GRCm39) |
E66K |
possibly damaging |
Het |
| Spg11 |
T |
C |
2: 121,915,464 (GRCm39) |
N1060S |
probably benign |
Het |
| Supt5 |
A |
T |
7: 28,028,462 (GRCm39) |
W178R |
probably damaging |
Het |
| Tmem41a |
G |
T |
16: 21,756,740 (GRCm39) |
F126L |
probably benign |
Het |
| Ube2m |
T |
A |
7: 12,771,553 (GRCm39) |
Q35L |
probably benign |
Het |
| Usp33 |
A |
G |
3: 152,086,211 (GRCm39) |
D658G |
probably damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,238,373 (GRCm39) |
C456S |
probably benign |
Het |
| Vmn2r81 |
T |
A |
10: 79,104,434 (GRCm39) |
D352E |
probably damaging |
Het |
| Zfp516 |
A |
G |
18: 83,005,388 (GRCm39) |
Y764C |
probably damaging |
Het |
| Zswim7 |
A |
G |
11: 62,167,473 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Il23r |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00668:Il23r
|
APN |
6 |
67,400,612 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00886:Il23r
|
APN |
6 |
67,450,874 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL00916:Il23r
|
APN |
6 |
67,450,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01102:Il23r
|
APN |
6 |
67,400,909 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01466:Il23r
|
APN |
6 |
67,403,626 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL01627:Il23r
|
APN |
6 |
67,400,412 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02160:Il23r
|
APN |
6 |
67,400,562 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02394:Il23r
|
APN |
6 |
67,443,256 (GRCm39) |
splice site |
probably benign |
|
|
IGL02418:Il23r
|
APN |
6 |
67,467,656 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02818:Il23r
|
APN |
6 |
67,463,078 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03230:Il23r
|
APN |
6 |
67,400,948 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0029:Il23r
|
UTSW |
6 |
67,455,929 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0029:Il23r
|
UTSW |
6 |
67,455,929 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0035:Il23r
|
UTSW |
6 |
67,450,772 (GRCm39) |
splice site |
probably benign |
|
|
R0035:Il23r
|
UTSW |
6 |
67,450,772 (GRCm39) |
splice site |
probably benign |
|
|
R0085:Il23r
|
UTSW |
6 |
67,463,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0477:Il23r
|
UTSW |
6 |
67,429,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0534:Il23r
|
UTSW |
6 |
67,403,572 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0547:Il23r
|
UTSW |
6 |
67,463,235 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R0547:Il23r
|
UTSW |
6 |
67,400,685 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0666:Il23r
|
UTSW |
6 |
67,411,664 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0702:Il23r
|
UTSW |
6 |
67,443,269 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1077:Il23r
|
UTSW |
6 |
67,450,794 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1202:Il23r
|
UTSW |
6 |
67,455,937 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1328:Il23r
|
UTSW |
6 |
67,468,802 (GRCm39) |
start gained |
probably benign |
|
|
R1378:Il23r
|
UTSW |
6 |
67,429,394 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1420:Il23r
|
UTSW |
6 |
67,463,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1475:Il23r
|
UTSW |
6 |
67,429,280 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1628:Il23r
|
UTSW |
6 |
67,400,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1745:Il23r
|
UTSW |
6 |
67,443,275 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1887:Il23r
|
UTSW |
6 |
67,450,785 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1901:Il23r
|
UTSW |
6 |
67,400,718 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1902:Il23r
|
UTSW |
6 |
67,400,718 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1928:Il23r
|
UTSW |
6 |
67,400,719 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1984:Il23r
|
UTSW |
6 |
67,467,652 (GRCm39) |
splice site |
probably null |
|
|
R1985:Il23r
|
UTSW |
6 |
67,467,652 (GRCm39) |
splice site |
probably null |
|
|
R2264:Il23r
|
UTSW |
6 |
67,403,651 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2290:Il23r
|
UTSW |
6 |
67,400,845 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2363:Il23r
|
UTSW |
6 |
67,429,401 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3430:Il23r
|
UTSW |
6 |
67,429,458 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3964:Il23r
|
UTSW |
6 |
67,443,281 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4073:Il23r
|
UTSW |
6 |
67,463,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4164:Il23r
|
UTSW |
6 |
67,400,647 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4643:Il23r
|
UTSW |
6 |
67,400,977 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4700:Il23r
|
UTSW |
6 |
67,450,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4703:Il23r
|
UTSW |
6 |
67,467,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4720:Il23r
|
UTSW |
6 |
67,400,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4828:Il23r
|
UTSW |
6 |
67,408,635 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4911:Il23r
|
UTSW |
6 |
67,400,545 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5119:Il23r
|
UTSW |
6 |
67,443,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5152:Il23r
|
UTSW |
6 |
67,400,725 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5223:Il23r
|
UTSW |
6 |
67,463,154 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5271:Il23r
|
UTSW |
6 |
67,400,680 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5330:Il23r
|
UTSW |
6 |
67,400,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5331:Il23r
|
UTSW |
6 |
67,400,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5384:Il23r
|
UTSW |
6 |
67,463,275 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5874:Il23r
|
UTSW |
6 |
67,408,629 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6037:Il23r
|
UTSW |
6 |
67,455,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6037:Il23r
|
UTSW |
6 |
67,455,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6377:Il23r
|
UTSW |
6 |
67,400,636 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6925:Il23r
|
UTSW |
6 |
67,400,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6975:Il23r
|
UTSW |
6 |
67,400,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7529:Il23r
|
UTSW |
6 |
67,467,720 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7757:Il23r
|
UTSW |
6 |
67,400,965 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7832:Il23r
|
UTSW |
6 |
67,400,846 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7946:Il23r
|
UTSW |
6 |
67,411,648 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8078:Il23r
|
UTSW |
6 |
67,400,577 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8391:Il23r
|
UTSW |
6 |
67,429,374 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8784:Il23r
|
UTSW |
6 |
67,443,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9280:Il23r
|
UTSW |
6 |
67,429,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9352:Il23r
|
UTSW |
6 |
67,403,592 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9362:Il23r
|
UTSW |
6 |
67,400,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9768:Il23r
|
UTSW |
6 |
67,408,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTCCAGAGGAAATGTCTTTCCCAC -3'
(R):5'- GCTGCATCCTGCCAAAACCTGAAG -3'
Sequencing Primer
(F):5'- GACATTCAGCAGTGCAATGC -3'
(R):5'- TGCCAAAACCTGAAGAAAACATACAG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation