Incidental Mutation 'R1985:Il23r'
ID |
220445 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Il23r
|
Ensembl Gene |
ENSMUSG00000049093 |
Gene Name |
interleukin 23 receptor |
Synonyms |
|
MMRRC Submission |
039997-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1985 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
67399916-67468839 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 67467652 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 null
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: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
Validation Efficiency |
94% (76/81) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd8 |
C |
A |
8: 71,916,157 (GRCm39) |
|
probably benign |
Het |
Adam5 |
A |
T |
8: 25,236,755 (GRCm39) |
D648E |
probably benign |
Het |
Akr1d1 |
A |
G |
6: 37,535,336 (GRCm39) |
D240G |
probably damaging |
Het |
Ankmy2 |
A |
G |
12: 36,207,363 (GRCm39) |
H3R |
possibly damaging |
Het |
Anpep |
A |
C |
7: 79,490,605 (GRCm39) |
|
probably null |
Het |
Apobr |
A |
G |
7: 126,186,903 (GRCm39) |
T20A |
possibly damaging |
Het |
Atp2a2 |
A |
T |
5: 122,604,899 (GRCm39) |
Y427N |
probably benign |
Het |
Camkk2 |
A |
C |
5: 122,902,190 (GRCm39) |
S40A |
possibly damaging |
Het |
Camp |
T |
C |
9: 109,677,497 (GRCm39) |
N112S |
probably benign |
Het |
Cbx7 |
A |
G |
15: 79,802,591 (GRCm39) |
S229P |
probably damaging |
Het |
Cnot2 |
T |
C |
10: 116,363,781 (GRCm39) |
N41S |
probably damaging |
Het |
Dchs1 |
A |
G |
7: 105,421,605 (GRCm39) |
F272L |
possibly damaging |
Het |
Dct |
T |
C |
14: 118,273,954 (GRCm39) |
K318E |
probably benign |
Het |
Dhrs11 |
A |
C |
11: 84,719,633 (GRCm39) |
L31V |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,543,093 (GRCm39) |
D2359G |
probably benign |
Het |
Dnajc7 |
A |
G |
11: 100,481,718 (GRCm39) |
S305P |
probably benign |
Het |
Dscc1 |
CTGAATGAAT |
CTGAAT |
15: 54,943,572 (GRCm39) |
|
probably benign |
Het |
Flnc |
A |
G |
6: 29,444,415 (GRCm39) |
|
probably benign |
Het |
Garin3 |
T |
C |
11: 46,298,693 (GRCm39) |
*666Q |
probably null |
Het |
Gm7535 |
A |
G |
17: 18,131,800 (GRCm39) |
|
probably benign |
Het |
Grtp1 |
A |
G |
8: 13,229,376 (GRCm39) |
F313L |
probably damaging |
Het |
Haus6 |
T |
C |
4: 86,511,846 (GRCm39) |
Y425C |
possibly damaging |
Het |
Hdac1 |
T |
A |
4: 129,422,753 (GRCm39) |
N83Y |
possibly damaging |
Het |
Hdlbp |
A |
G |
1: 93,358,840 (GRCm39) |
I237T |
probably damaging |
Het |
Hfm1 |
A |
T |
5: 107,046,442 (GRCm39) |
D481E |
probably damaging |
Het |
Hipk3 |
T |
C |
2: 104,264,780 (GRCm39) |
I737V |
probably benign |
Het |
Il24 |
G |
A |
1: 130,810,268 (GRCm39) |
T196I |
probably benign |
Het |
Ints3 |
C |
T |
3: 90,307,610 (GRCm39) |
|
probably null |
Het |
Kcna6 |
T |
C |
6: 126,715,473 (GRCm39) |
E472G |
probably benign |
Het |
Kcnj16 |
C |
T |
11: 110,916,409 (GRCm39) |
T357M |
probably benign |
Het |
Kdm4b |
T |
A |
17: 56,708,302 (GRCm39) |
V957E |
probably damaging |
Het |
Kif21b |
G |
A |
1: 136,075,284 (GRCm39) |
D166N |
probably damaging |
Het |
Klhl11 |
G |
T |
11: 100,354,070 (GRCm39) |
Q584K |
probably benign |
Het |
Krt9 |
A |
T |
11: 100,080,817 (GRCm39) |
M345K |
probably benign |
Het |
Lgr5 |
T |
C |
10: 115,331,150 (GRCm39) |
|
probably benign |
Het |
Lilrb4b |
A |
T |
10: 51,357,831 (GRCm39) |
Q80L |
possibly damaging |
Het |
Lrrc69 |
T |
C |
4: 14,708,669 (GRCm39) |
E225G |
possibly damaging |
Het |
Ly9 |
A |
G |
1: 171,427,341 (GRCm39) |
S405P |
probably damaging |
Het |
Myh2 |
A |
G |
11: 67,071,740 (GRCm39) |
D519G |
possibly damaging |
Het |
Nav3 |
G |
A |
10: 109,606,045 (GRCm39) |
|
probably benign |
Het |
Nfkb1 |
G |
A |
3: 135,321,110 (GRCm39) |
T215I |
possibly damaging |
Het |
Ninj2 |
A |
T |
6: 120,175,600 (GRCm39) |
|
probably benign |
Het |
Obsl1 |
A |
G |
1: 75,482,244 (GRCm39) |
C209R |
probably damaging |
Het |
Or13a25 |
G |
A |
7: 140,247,734 (GRCm39) |
C171Y |
probably damaging |
Het |
Or2d4 |
A |
G |
7: 106,544,133 (GRCm39) |
I25T |
probably benign |
Het |
Or2j6 |
A |
T |
7: 139,980,713 (GRCm39) |
M82K |
possibly damaging |
Het |
Or2t44 |
A |
C |
11: 58,677,210 (GRCm39) |
D50A |
probably damaging |
Het |
Or2y1g |
T |
C |
11: 49,171,110 (GRCm39) |
I45T |
probably damaging |
Het |
Or52z14 |
A |
T |
7: 103,252,879 (GRCm39) |
Y6F |
probably benign |
Het |
Otud4 |
G |
C |
8: 80,366,641 (GRCm39) |
R36P |
probably damaging |
Het |
Pcnt |
C |
T |
10: 76,216,171 (GRCm39) |
R2239H |
possibly damaging |
Het |
Pgbd5 |
T |
A |
8: 125,097,331 (GRCm39) |
M491L |
probably benign |
Het |
Pitrm1 |
A |
T |
13: 6,608,220 (GRCm39) |
D316V |
probably damaging |
Het |
Plod3 |
A |
G |
5: 137,019,707 (GRCm39) |
|
probably null |
Het |
Plppr3 |
A |
T |
10: 79,703,294 (GRCm39) |
Y63* |
probably null |
Het |
Pramel52-ps |
A |
T |
5: 94,531,931 (GRCm39) |
I272L |
probably benign |
Het |
Prickle2 |
T |
C |
6: 92,388,433 (GRCm39) |
D323G |
probably damaging |
Het |
Psmd11 |
A |
T |
11: 80,336,089 (GRCm39) |
I114F |
probably damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
Rbp3 |
T |
G |
14: 33,678,418 (GRCm39) |
S789A |
probably benign |
Het |
Rfxap |
C |
A |
3: 54,714,747 (GRCm39) |
R117L |
probably damaging |
Het |
Rims2 |
T |
A |
15: 39,208,710 (GRCm39) |
M171K |
probably damaging |
Het |
Scin |
A |
G |
12: 40,183,907 (GRCm39) |
|
probably null |
Het |
Scn11a |
A |
G |
9: 119,583,744 (GRCm39) |
S1624P |
probably benign |
Het |
Slc41a3 |
G |
A |
6: 90,619,210 (GRCm39) |
V330M |
probably damaging |
Het |
Slc9c1 |
A |
G |
16: 45,370,469 (GRCm39) |
I237V |
probably benign |
Het |
Spag6 |
A |
G |
2: 18,736,930 (GRCm39) |
I218V |
probably benign |
Het |
Stam2 |
T |
C |
2: 52,599,638 (GRCm39) |
T257A |
possibly damaging |
Het |
Tbc1d24 |
G |
A |
17: 24,426,938 (GRCm39) |
R318* |
probably null |
Het |
Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
Trpm3 |
T |
A |
19: 22,903,446 (GRCm39) |
Y1069N |
possibly damaging |
Het |
Tuba8 |
A |
G |
6: 121,197,479 (GRCm39) |
D47G |
probably benign |
Het |
Tulp3 |
A |
T |
6: 128,303,769 (GRCm39) |
S277T |
probably benign |
Het |
Uqcc6 |
T |
A |
10: 82,456,051 (GRCm39) |
T37S |
possibly damaging |
Het |
Wdr7 |
GTT |
GT |
18: 63,893,654 (GRCm39) |
|
probably null |
Het |
Ybx2 |
A |
G |
11: 69,827,294 (GRCm39) |
|
probably null |
Het |
Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
Zfp788 |
T |
A |
7: 41,299,905 (GRCm39) |
I795N |
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 |
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 |
|
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'- GCAACCTGCATTTGAAAGGAAG -3'
(R):5'- AATGTGACCTCTATCTGCCCTG -3'
Sequencing Primer
(F):5'- CAGATATTCTGACATAAGTGCT -3'
(R):5'- CTGTTATTTTGAATGCAAGGATTCC -3'
|
Posted On |
2014-08-25 |