Incidental Mutation 'R5152:Il23r'
ID |
395440 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Il23r
|
Ensembl Gene |
ENSMUSG00000049093 |
Gene Name |
interleukin 23 receptor |
Synonyms |
|
MMRRC Submission |
042734-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5152 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
67399916-67468839 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 67400725 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 535
(N535I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113342
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118364]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000118364
AA Change: N535I
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113342 Gene: ENSMUSG00000049093 AA Change: N535I
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 |
0.1288 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
Validation Efficiency |
99% (83/84) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
T |
C |
7: 120,139,846 (GRCm39) |
S1503P |
probably benign |
Het |
Actn3 |
C |
A |
19: 4,913,572 (GRCm39) |
V620F |
probably damaging |
Het |
Adamtsl3 |
A |
G |
7: 82,223,752 (GRCm39) |
K252E |
probably benign |
Het |
Adgrg1 |
A |
G |
8: 95,736,373 (GRCm39) |
Y509C |
probably damaging |
Het |
Arhgef2 |
G |
A |
3: 88,536,875 (GRCm39) |
|
probably null |
Het |
Bod1l |
T |
C |
5: 41,973,886 (GRCm39) |
E2476G |
probably benign |
Het |
Capn3 |
T |
C |
2: 120,331,811 (GRCm39) |
|
probably benign |
Het |
Catsperz |
T |
C |
19: 6,900,705 (GRCm39) |
T147A |
probably benign |
Het |
Cc2d1b |
C |
A |
4: 108,483,283 (GRCm39) |
A289E |
probably benign |
Het |
Ccdc170 |
A |
C |
10: 4,511,107 (GRCm39) |
H722P |
probably damaging |
Het |
Cdk13 |
C |
A |
13: 17,893,110 (GRCm39) |
A1358S |
probably benign |
Het |
Cntn6 |
T |
A |
6: 104,546,074 (GRCm39) |
|
probably benign |
Het |
Coch |
A |
G |
12: 51,642,225 (GRCm39) |
N66D |
probably benign |
Het |
Col12a1 |
A |
G |
9: 79,564,030 (GRCm39) |
S1732P |
probably damaging |
Het |
Copa |
T |
A |
1: 171,945,628 (GRCm39) |
V917E |
probably benign |
Het |
Csmd2 |
C |
A |
4: 128,445,828 (GRCm39) |
N3299K |
probably benign |
Het |
Cyp2c67 |
A |
T |
19: 39,627,132 (GRCm39) |
F233I |
probably benign |
Het |
D630039A03Rik |
T |
A |
4: 57,910,434 (GRCm39) |
H126L |
probably damaging |
Het |
Ddx46 |
T |
C |
13: 55,806,843 (GRCm39) |
L492P |
probably damaging |
Het |
Dpysl3 |
C |
T |
18: 43,571,145 (GRCm39) |
G43D |
probably benign |
Het |
Enpp5 |
C |
T |
17: 44,392,024 (GRCm39) |
P151L |
probably damaging |
Het |
Exoc3l4 |
T |
C |
12: 111,397,327 (GRCm39) |
|
probably benign |
Het |
Faap100 |
T |
A |
11: 120,268,458 (GRCm39) |
E105V |
possibly damaging |
Het |
Flg2 |
C |
A |
3: 93,122,284 (GRCm39) |
P1485T |
unknown |
Het |
Fmo5 |
A |
G |
3: 97,549,078 (GRCm39) |
Y242C |
probably benign |
Het |
Fsip2 |
C |
A |
2: 82,808,916 (GRCm39) |
T1745N |
probably benign |
Het |
Gata4 |
T |
A |
14: 63,478,570 (GRCm39) |
N10Y |
probably damaging |
Het |
Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
Gm4787 |
A |
C |
12: 81,425,451 (GRCm39) |
S236A |
probably benign |
Het |
Golga7 |
A |
C |
8: 23,735,965 (GRCm39) |
S94A |
probably benign |
Het |
Gpbp1 |
A |
G |
13: 111,589,815 (GRCm39) |
|
probably benign |
Het |
Grm1 |
A |
G |
10: 10,955,619 (GRCm39) |
Y222H |
probably benign |
Het |
Gstcd |
A |
G |
3: 132,790,717 (GRCm39) |
Y17H |
possibly damaging |
Het |
Hephl1 |
C |
A |
9: 14,991,481 (GRCm39) |
D586Y |
probably damaging |
Het |
Hpn |
C |
A |
7: 30,799,261 (GRCm39) |
V35L |
probably damaging |
Het |
Inpp4a |
T |
C |
1: 37,397,616 (GRCm39) |
I45T |
possibly damaging |
Het |
Itgae |
G |
C |
11: 73,021,821 (GRCm39) |
G901R |
probably damaging |
Het |
Kif28 |
T |
C |
1: 179,530,103 (GRCm39) |
D686G |
probably damaging |
Het |
Kit |
A |
G |
5: 75,781,507 (GRCm39) |
E312G |
probably benign |
Het |
Lamb2 |
C |
A |
9: 108,364,937 (GRCm39) |
S1230R |
probably benign |
Het |
Lars1 |
A |
T |
18: 42,361,842 (GRCm39) |
D588E |
possibly damaging |
Het |
Lgr4 |
T |
A |
2: 109,830,948 (GRCm39) |
F292I |
probably damaging |
Het |
Lmf1 |
C |
T |
17: 25,874,493 (GRCm39) |
S458L |
probably damaging |
Het |
Lpin2 |
T |
A |
17: 71,552,154 (GRCm39) |
C787S |
probably damaging |
Het |
Ms4a4a |
A |
C |
19: 11,365,676 (GRCm39) |
I138L |
probably benign |
Het |
Mterf1a |
A |
T |
5: 3,940,984 (GRCm39) |
F295I |
probably damaging |
Het |
Muc4 |
A |
T |
16: 32,577,432 (GRCm39) |
K241* |
probably null |
Het |
Muc5b |
T |
C |
7: 141,419,268 (GRCm39) |
F4017S |
possibly damaging |
Het |
Nfkbil1 |
T |
C |
17: 35,440,384 (GRCm39) |
|
probably benign |
Het |
Or10d5j |
T |
C |
9: 39,868,202 (GRCm39) |
T22A |
probably benign |
Het |
Or4x6 |
A |
G |
2: 89,949,465 (GRCm39) |
L159P |
probably damaging |
Het |
Or8g21 |
A |
T |
9: 38,906,473 (GRCm39) |
V86E |
possibly damaging |
Het |
Osgep |
T |
C |
14: 51,155,315 (GRCm39) |
D81G |
probably damaging |
Het |
Otos |
A |
G |
1: 92,572,116 (GRCm39) |
F70S |
probably damaging |
Het |
Pcdhb2 |
T |
A |
18: 37,429,179 (GRCm39) |
V384D |
probably damaging |
Het |
Ppp1r10 |
C |
T |
17: 36,240,144 (GRCm39) |
P514S |
probably damaging |
Het |
Pramel14 |
G |
A |
4: 143,720,830 (GRCm39) |
P37L |
probably damaging |
Het |
Prdm16 |
A |
G |
4: 154,430,559 (GRCm39) |
Y309H |
probably damaging |
Het |
Rap1gds1 |
A |
T |
3: 138,661,962 (GRCm39) |
D382E |
probably damaging |
Het |
Reln |
A |
G |
5: 22,153,627 (GRCm39) |
F2226L |
probably damaging |
Het |
Rmi2 |
C |
T |
16: 10,657,765 (GRCm39) |
T125M |
probably damaging |
Het |
Setd1a |
C |
T |
7: 127,383,197 (GRCm39) |
T231I |
probably benign |
Het |
Sftpa1 |
G |
A |
14: 40,856,309 (GRCm39) |
G218D |
probably damaging |
Het |
Shcbp1 |
A |
T |
8: 4,786,138 (GRCm39) |
F655I |
probably damaging |
Het |
Slc5a7 |
T |
C |
17: 54,585,861 (GRCm39) |
I319V |
possibly damaging |
Het |
Sp140l2 |
G |
A |
1: 85,239,581 (GRCm39) |
P19S |
probably benign |
Het |
Spata31d1c |
C |
T |
13: 65,183,409 (GRCm39) |
T317I |
probably damaging |
Het |
Speg |
C |
T |
1: 75,404,742 (GRCm39) |
P2845S |
possibly damaging |
Het |
Synpo2 |
A |
G |
3: 123,029,550 (GRCm39) |
|
probably null |
Het |
Tdpoz9 |
T |
C |
3: 93,957,451 (GRCm39) |
|
probably benign |
Het |
Tdrd7 |
T |
A |
4: 46,013,191 (GRCm39) |
S644T |
probably damaging |
Het |
Tmem182 |
T |
A |
1: 40,877,460 (GRCm39) |
Y112N |
probably damaging |
Het |
Usp45 |
T |
A |
4: 21,824,815 (GRCm39) |
N522K |
probably benign |
Het |
Vnn3 |
A |
T |
10: 23,740,237 (GRCm39) |
Y180F |
probably benign |
Het |
Wnk1 |
C |
T |
6: 119,979,241 (GRCm39) |
R282Q |
possibly damaging |
Het |
Xrn1 |
A |
T |
9: 95,846,118 (GRCm39) |
D57V |
probably benign |
Het |
Zfp831 |
T |
C |
2: 174,486,357 (GRCm39) |
V344A |
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 |
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 |
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'- CAAAACGATGCTGGTTTCCTCC -3'
(R):5'- TGAAATCTCTCCCCTGGAACAC -3'
Sequencing Primer
(F):5'- ATGCTGGTTTCCTCCTGTCTTGAG -3'
(R):5'- TCTCTCCCCTGGAACACAAACC -3'
|
Posted On |
2016-06-21 |