Incidental Mutation 'R0547:Il23r'
ID |
44894 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Il23r
|
Ensembl Gene |
ENSMUSG00000049093 |
Gene Name |
interleukin 23 receptor |
Synonyms |
|
MMRRC Submission |
038739-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0547 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
67399916-67468839 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 67400685 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 548
(D548E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113342
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118364]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000118364
AA Change: D548E
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000113342 Gene: ENSMUSG00000049093 AA Change: D548E
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
Validation Efficiency |
98% (57/58) |
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 |
2310057N15Rik |
A |
G |
16: 88,570,498 (GRCm39) |
Y181H |
probably benign |
Het |
A530084C06Rik |
A |
G |
13: 31,742,813 (GRCm39) |
|
probably benign |
Het |
Adamtsl1 |
A |
G |
4: 86,274,592 (GRCm39) |
D1208G |
probably benign |
Het |
Ankrd55 |
T |
C |
13: 112,504,757 (GRCm39) |
F501S |
probably benign |
Het |
Aox1 |
G |
A |
1: 58,349,201 (GRCm39) |
D656N |
probably damaging |
Het |
Atr |
A |
T |
9: 95,781,218 (GRCm39) |
|
probably benign |
Het |
Bicra |
G |
A |
7: 15,706,173 (GRCm39) |
R1423W |
probably damaging |
Het |
Cabyr |
T |
A |
18: 12,884,073 (GRCm39) |
S187T |
probably benign |
Het |
Car5b |
G |
A |
X: 162,762,297 (GRCm39) |
R282C |
probably damaging |
Het |
Cdon |
A |
T |
9: 35,368,794 (GRCm39) |
T343S |
possibly damaging |
Het |
Cep350 |
C |
T |
1: 155,777,181 (GRCm39) |
|
probably null |
Het |
Cimap1a |
A |
G |
7: 140,428,728 (GRCm39) |
|
probably null |
Het |
Copa |
T |
C |
1: 171,949,254 (GRCm39) |
|
probably benign |
Het |
Cyp4f18 |
T |
C |
8: 72,749,854 (GRCm39) |
D265G |
probably benign |
Het |
Dgkb |
T |
A |
12: 38,654,157 (GRCm39) |
C759S |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,021,757 (GRCm39) |
M3470V |
probably benign |
Het |
Eif4g2 |
T |
C |
7: 110,677,500 (GRCm39) |
N177S |
probably damaging |
Het |
Etfb |
C |
T |
7: 43,104,002 (GRCm39) |
Q145* |
probably null |
Het |
Flnb |
T |
A |
14: 7,912,943 (GRCm38) |
|
probably null |
Het |
G430095P16Rik |
G |
A |
8: 85,453,271 (GRCm39) |
|
probably benign |
Het |
Gfral |
A |
T |
9: 76,115,924 (GRCm39) |
S17T |
probably benign |
Het |
Gpr26 |
T |
C |
7: 131,586,026 (GRCm39) |
I332T |
probably benign |
Het |
Greb1 |
T |
A |
12: 16,773,412 (GRCm39) |
T221S |
probably benign |
Het |
Haus5 |
A |
T |
7: 30,358,508 (GRCm39) |
S289T |
probably damaging |
Het |
Ighv6-4 |
T |
C |
12: 114,370,221 (GRCm39) |
Y77C |
probably damaging |
Het |
Inppl1 |
A |
T |
7: 101,480,210 (GRCm39) |
M424K |
probably benign |
Het |
Jam3 |
A |
G |
9: 27,010,184 (GRCm39) |
Y267H |
probably damaging |
Het |
Lrrc37 |
T |
C |
11: 103,510,990 (GRCm39) |
N326S |
unknown |
Het |
Mms19 |
A |
T |
19: 41,951,857 (GRCm39) |
M160K |
probably damaging |
Het |
Muc2 |
CGTG |
CGTGTG |
7: 141,699,185 (GRCm38) |
|
probably null |
Het |
Mup5 |
A |
G |
4: 61,751,237 (GRCm39) |
L137P |
probably damaging |
Het |
Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
Ntrk2 |
G |
A |
13: 59,022,184 (GRCm39) |
S413N |
probably damaging |
Het |
Nuak2 |
C |
A |
1: 132,259,941 (GRCm39) |
T573N |
probably benign |
Het |
Or4m1 |
A |
T |
14: 50,557,575 (GRCm39) |
I239K |
probably benign |
Het |
Or52h9 |
G |
A |
7: 104,202,563 (GRCm39) |
V146M |
probably benign |
Het |
Padi4 |
GCTGCGTACCTCCAC |
GC |
4: 140,475,760 (GRCm39) |
|
probably benign |
Het |
Pclo |
T |
A |
5: 14,842,086 (GRCm39) |
I4787N |
unknown |
Het |
Pde8a |
G |
T |
7: 80,973,878 (GRCm39) |
V612L |
probably benign |
Het |
Pear1 |
A |
T |
3: 87,696,107 (GRCm39) |
|
probably null |
Het |
Pgbd1 |
A |
G |
13: 21,607,688 (GRCm39) |
Y169H |
probably damaging |
Het |
Pkd1l1 |
A |
G |
11: 8,786,448 (GRCm39) |
|
probably benign |
Het |
Prkag3 |
C |
T |
1: 74,783,879 (GRCm39) |
|
probably null |
Het |
Rsph9 |
A |
T |
17: 46,455,050 (GRCm39) |
S9T |
possibly damaging |
Het |
Rxfp1 |
A |
T |
3: 79,612,876 (GRCm39) |
|
probably null |
Het |
Senp7 |
A |
G |
16: 55,996,189 (GRCm39) |
E756G |
probably damaging |
Het |
Serpina1e |
G |
T |
12: 103,915,450 (GRCm39) |
T252K |
probably benign |
Het |
Sipa1l1 |
T |
A |
12: 82,484,510 (GRCm39) |
S1555T |
probably benign |
Het |
Slain1 |
T |
C |
14: 103,932,711 (GRCm39) |
S432P |
probably damaging |
Het |
Slc37a2 |
A |
T |
9: 37,144,418 (GRCm39) |
|
probably null |
Het |
Thg1l |
C |
T |
11: 45,845,018 (GRCm39) |
R18Q |
probably damaging |
Het |
Tnn |
A |
G |
1: 159,943,907 (GRCm39) |
|
probably benign |
Het |
Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
Tshz3 |
A |
G |
7: 36,470,842 (GRCm39) |
T944A |
probably damaging |
Het |
Ttn |
C |
G |
2: 76,684,774 (GRCm39) |
|
probably benign |
Het |
Ythdc2 |
T |
C |
18: 44,973,331 (GRCm39) |
S323P |
possibly damaging |
Het |
Zfp827 |
A |
G |
8: 79,786,939 (GRCm39) |
N35S |
probably damaging |
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 |
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 |
R0715:Il23r
|
UTSW |
6 |
67,463,317 (GRCm39) |
missense |
possibly damaging |
0.63 |
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'- GGAAAGGCAGCTTCTCACCTTGAC -3'
(R):5'- AAGGCTCACAGGACTCCTTGAGAC -3'
Sequencing Primer
(F):5'- CACCTTGACTTTGATGGCATAG -3'
(R):5'- CAAGAGACTGTCCTCTAGGAATGTTG -3'
|
Posted On |
2013-06-11 |