Incidental Mutation 'R0035:Il23r'
ID |
19408 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Il23r
|
Ensembl Gene |
ENSMUSG00000049093 |
Gene Name |
interleukin 23 receptor |
Synonyms |
|
MMRRC Submission |
038329-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0035 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
67399916-67468839 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 67450772 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000113342 Gene: ENSMUSG00000049093
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 |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 87.1%
|
Validation Efficiency |
99% (70/71) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110040N11Rik |
T |
C |
7: 81,438,297 (GRCm39) |
T20A |
probably benign |
Het |
Aadacl4 |
A |
G |
4: 144,344,511 (GRCm39) |
T96A |
probably damaging |
Het |
Abcb6 |
A |
G |
1: 75,151,651 (GRCm39) |
V473A |
possibly damaging |
Het |
Abo |
C |
A |
2: 26,733,385 (GRCm39) |
K273N |
possibly damaging |
Het |
Acvr1c |
A |
G |
2: 58,205,791 (GRCm39) |
|
probably benign |
Het |
Adcy8 |
A |
T |
15: 64,571,217 (GRCm39) |
V1142D |
probably benign |
Het |
Akna |
T |
A |
4: 63,300,682 (GRCm39) |
H591L |
probably benign |
Het |
Aox1 |
T |
C |
1: 58,393,581 (GRCm39) |
V1247A |
probably benign |
Het |
Ap4b1 |
T |
C |
3: 103,727,980 (GRCm39) |
|
probably benign |
Het |
Armh3 |
A |
T |
19: 45,879,679 (GRCm39) |
M558K |
probably damaging |
Het |
Atm |
A |
G |
9: 53,424,480 (GRCm39) |
V607A |
probably benign |
Het |
Bltp1 |
T |
A |
3: 37,041,747 (GRCm39) |
Y2708* |
probably null |
Het |
Cass4 |
C |
T |
2: 172,258,412 (GRCm39) |
P137S |
probably damaging |
Het |
Cfap53 |
A |
G |
18: 74,433,278 (GRCm39) |
E121G |
probably damaging |
Het |
Chmp6 |
T |
C |
11: 119,807,508 (GRCm39) |
V31A |
probably damaging |
Het |
Clec4a3 |
T |
A |
6: 122,944,508 (GRCm39) |
Y185N |
probably damaging |
Het |
Clic5 |
A |
G |
17: 44,586,200 (GRCm39) |
T230A |
probably damaging |
Het |
Clspn |
G |
T |
4: 126,458,796 (GRCm39) |
|
probably null |
Het |
Cntn1 |
T |
A |
15: 92,129,969 (GRCm39) |
|
probably benign |
Het |
Col4a3 |
G |
A |
1: 82,650,474 (GRCm39) |
G577R |
unknown |
Het |
Defa21 |
T |
A |
8: 21,515,784 (GRCm39) |
|
probably null |
Het |
Deup1 |
T |
C |
9: 15,511,117 (GRCm39) |
R221G |
possibly damaging |
Het |
Dnah8 |
A |
T |
17: 30,902,595 (GRCm39) |
|
probably benign |
Het |
Dnase1l2 |
A |
G |
17: 24,660,049 (GRCm39) |
V273A |
probably damaging |
Het |
Gm5134 |
T |
A |
10: 75,829,698 (GRCm39) |
F328Y |
probably benign |
Het |
Golph3 |
A |
T |
15: 12,339,776 (GRCm39) |
E96D |
probably damaging |
Het |
Hspd1 |
A |
G |
1: 55,122,942 (GRCm39) |
V151A |
probably benign |
Het |
Htr1f |
A |
C |
16: 64,746,860 (GRCm39) |
I144S |
probably damaging |
Het |
Il25 |
A |
G |
14: 55,170,553 (GRCm39) |
E42G |
probably damaging |
Het |
Il36b |
A |
T |
2: 24,049,890 (GRCm39) |
H167L |
probably benign |
Het |
Klrb1-ps1 |
C |
T |
6: 129,106,306 (GRCm39) |
A149V |
possibly damaging |
Het |
Kmt2e |
T |
A |
5: 23,690,619 (GRCm39) |
|
probably benign |
Het |
Ktn1 |
A |
G |
14: 47,967,836 (GRCm39) |
N1167D |
probably benign |
Het |
Lama4 |
T |
A |
10: 38,948,734 (GRCm39) |
D832E |
probably benign |
Het |
Map1b |
A |
G |
13: 99,571,846 (GRCm39) |
S292P |
probably damaging |
Het |
Map6 |
C |
T |
7: 98,966,815 (GRCm39) |
T345I |
probably damaging |
Het |
Mark2 |
A |
T |
19: 7,262,017 (GRCm39) |
|
probably benign |
Het |
Me3 |
C |
A |
7: 89,500,967 (GRCm39) |
H559Q |
probably benign |
Het |
Myo1b |
A |
G |
1: 51,817,541 (GRCm39) |
F574L |
probably damaging |
Het |
Nos2 |
T |
C |
11: 78,836,553 (GRCm39) |
S431P |
probably damaging |
Het |
Nr1h5 |
T |
A |
3: 102,856,889 (GRCm39) |
K208* |
probably null |
Het |
Nup214 |
T |
C |
2: 31,880,379 (GRCm39) |
|
probably null |
Het |
Obp2b |
T |
C |
2: 25,628,645 (GRCm39) |
L133P |
probably damaging |
Het |
Or14a259 |
T |
C |
7: 86,013,395 (GRCm39) |
D50G |
possibly damaging |
Het |
Or5k1 |
A |
T |
16: 58,617,485 (GRCm39) |
C241* |
probably null |
Het |
Osbp2 |
C |
T |
11: 3,667,997 (GRCm39) |
|
probably benign |
Het |
Ptafr |
C |
A |
4: 132,306,864 (GRCm39) |
L85I |
probably benign |
Het |
Ptprk |
T |
A |
10: 28,139,504 (GRCm39) |
Y76* |
probably null |
Het |
Rad50 |
A |
G |
11: 53,545,854 (GRCm39) |
|
probably benign |
Het |
Rasef |
G |
T |
4: 73,681,091 (GRCm39) |
|
probably benign |
Het |
Slitrk6 |
A |
T |
14: 110,987,364 (GRCm39) |
L781H |
probably damaging |
Het |
Tbc1d1 |
T |
A |
5: 64,414,080 (GRCm39) |
I18N |
probably damaging |
Het |
Tbc1d17 |
T |
C |
7: 44,490,832 (GRCm39) |
N587D |
probably benign |
Het |
Trank1 |
A |
T |
9: 111,195,844 (GRCm39) |
K1289N |
probably benign |
Het |
Tspyl3 |
A |
G |
2: 153,066,240 (GRCm39) |
S333P |
probably damaging |
Het |
Ush2a |
G |
A |
1: 188,089,085 (GRCm39) |
V347I |
probably benign |
Het |
Usp17le |
G |
T |
7: 104,418,269 (GRCm39) |
S291* |
probably null |
Het |
Usp24 |
T |
A |
4: 106,225,224 (GRCm39) |
S619T |
probably benign |
Het |
Vmn2r10 |
T |
C |
5: 109,145,467 (GRCm39) |
|
probably benign |
Het |
Vmn2r78 |
A |
G |
7: 86,569,413 (GRCm39) |
E102G |
probably benign |
Het |
Vwa3b |
G |
A |
1: 37,204,770 (GRCm39) |
V85I |
possibly damaging |
Het |
Wwp1 |
A |
C |
4: 19,631,116 (GRCm39) |
I639R |
probably damaging |
Het |
Xpo5 |
A |
G |
17: 46,551,101 (GRCm39) |
T1001A |
probably benign |
Het |
Zc3h12c |
A |
T |
9: 52,055,047 (GRCm39) |
M235K |
probably benign |
Het |
Zfp619 |
G |
A |
7: 39,186,706 (GRCm39) |
G912D |
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 |
|
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 |
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'- TTTCACATGCCATGCCTTTTACAACAG -3'
(R):5'- ACCATAGCATTCAAAGTTTCTGGAGCA -3'
Sequencing Primer
(F):5'- ATCTGCTCCTGAAAGGTGAC -3'
(R):5'- TGgttggtttgtttgtttgtttg -3'
|
Posted On |
2013-04-11 |