Incidental Mutation 'R5874:Il23r'
| ID |
455381 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il23r
|
| Ensembl Gene |
ENSMUSG00000049093 |
| Gene Name |
interleukin 23 receptor |
| Synonyms |
|
| MMRRC Submission |
044081-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5874 (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 67408629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 404
(F404Y)
|
| 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: F404Y
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113342
Gene: ENSMUSG00000049093
AA Change: F404Y
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.6%
|
| Validation Efficiency |
98% (86/88) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
G |
A |
7: 29,280,610 (GRCm39) |
|
noncoding transcript |
Het |
| Adam17 |
T |
C |
12: 21,379,087 (GRCm39) |
D654G |
possibly damaging |
Het |
| Ankhd1 |
A |
T |
18: 36,773,322 (GRCm39) |
H1373L |
possibly damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,416,656 (GRCm39) |
|
probably benign |
Het |
| Calu |
A |
G |
6: 29,372,617 (GRCm39) |
D112G |
probably damaging |
Het |
| Camk2a |
G |
C |
18: 61,076,272 (GRCm39) |
|
probably benign |
Het |
| Cpn1 |
C |
A |
19: 43,944,951 (GRCm39) |
R452L |
probably benign |
Het |
| Csmd3 |
T |
A |
15: 47,507,666 (GRCm39) |
E2780V |
probably damaging |
Het |
| Ctnna2 |
T |
C |
6: 76,879,413 (GRCm39) |
T824A |
probably benign |
Het |
| Cuedc2 |
C |
T |
19: 46,319,824 (GRCm39) |
V164M |
possibly damaging |
Het |
| Cyp2d34 |
T |
A |
15: 82,503,243 (GRCm39) |
D74V |
probably benign |
Het |
| Ddi2 |
A |
G |
4: 141,422,780 (GRCm39) |
S311P |
probably damaging |
Het |
| Ddx10 |
A |
C |
9: 53,140,498 (GRCm39) |
I301R |
possibly damaging |
Het |
| Dmpk |
T |
C |
7: 18,826,007 (GRCm39) |
|
probably benign |
Het |
| Dnah7b |
C |
T |
1: 46,230,885 (GRCm39) |
T1381I |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,218,670 (GRCm39) |
N1703K |
probably damaging |
Het |
| Dtwd1 |
T |
A |
2: 126,000,359 (GRCm39) |
H98Q |
probably damaging |
Het |
| Ecel1 |
A |
C |
1: 87,075,731 (GRCm39) |
V769G |
probably benign |
Het |
| Eno4 |
T |
C |
19: 58,935,238 (GRCm39) |
V150A |
probably benign |
Het |
| Evc2 |
C |
T |
5: 37,574,883 (GRCm39) |
|
probably benign |
Het |
| Ext1 |
T |
A |
15: 52,965,148 (GRCm39) |
Q406L |
possibly damaging |
Het |
| Foxf2 |
A |
G |
13: 31,810,775 (GRCm39) |
H238R |
probably benign |
Het |
| Frem2 |
C |
G |
3: 53,444,910 (GRCm39) |
G2407A |
probably benign |
Het |
| Fzd10 |
A |
G |
5: 128,678,364 (GRCm39) |
E28G |
probably benign |
Het |
| Galnt15 |
T |
C |
14: 31,774,324 (GRCm39) |
F363L |
probably damaging |
Het |
| Gm1758 |
C |
T |
16: 14,325,037 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5866 |
C |
T |
5: 52,739,956 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr9 |
T |
A |
11: 83,405,426 (GRCm39) |
M345L |
probably benign |
Het |
| Lrrc8a |
T |
C |
2: 30,147,148 (GRCm39) |
I654T |
probably damaging |
Het |
| Napg |
A |
T |
18: 63,111,091 (GRCm39) |
K18* |
probably null |
Het |
| Ndst3 |
A |
T |
3: 123,355,556 (GRCm39) |
W573R |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,077,692 (GRCm39) |
S1038G |
possibly damaging |
Het |
| Nudt12 |
T |
A |
17: 59,317,279 (GRCm39) |
R123* |
probably null |
Het |
| Oas1g |
T |
A |
5: 121,015,081 (GRCm39) |
N361Y |
probably benign |
Het |
| Or5p51 |
T |
A |
7: 107,444,377 (GRCm39) |
I188L |
probably benign |
Het |
| Or7a35 |
T |
A |
10: 78,853,191 (GRCm39) |
F12I |
possibly damaging |
Het |
| Or8h10 |
A |
T |
2: 86,808,786 (GRCm39) |
M118K |
probably damaging |
Het |
| Osbpl10 |
T |
C |
9: 115,055,828 (GRCm39) |
F667L |
probably damaging |
Het |
| Phldb2 |
T |
C |
16: 45,621,988 (GRCm39) |
D664G |
probably damaging |
Het |
| Piezo2 |
C |
T |
18: 63,160,972 (GRCm39) |
V2263M |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,858,688 (GRCm39) |
L615P |
probably damaging |
Het |
| Pnpla7 |
G |
A |
2: 24,901,661 (GRCm39) |
M562I |
probably benign |
Het |
| Pou2af2 |
A |
T |
9: 51,201,672 (GRCm39) |
L128* |
probably null |
Het |
| Ppp1r13b |
C |
A |
12: 111,811,423 (GRCm39) |
R155L |
probably damaging |
Het |
| Pygb |
C |
T |
2: 150,628,798 (GRCm39) |
P4L |
probably benign |
Het |
| Rbm44 |
T |
C |
1: 91,084,562 (GRCm39) |
|
probably null |
Het |
| Rilpl2 |
T |
C |
5: 124,607,876 (GRCm39) |
T115A |
probably benign |
Het |
| Rin3 |
A |
G |
12: 102,356,102 (GRCm39) |
Y801C |
probably damaging |
Het |
| Rnf112 |
A |
G |
11: 61,340,273 (GRCm39) |
V619A |
probably damaging |
Het |
| Rnf182 |
A |
G |
13: 43,821,563 (GRCm39) |
E38G |
probably benign |
Het |
| Scgb2b24 |
T |
A |
7: 33,436,830 (GRCm39) |
Y94F |
probably damaging |
Het |
| Serac1 |
C |
A |
17: 6,094,188 (GRCm39) |
|
probably benign |
Het |
| Shld2 |
T |
C |
14: 33,967,215 (GRCm39) |
T114A |
probably benign |
Het |
| Slc6a19 |
A |
T |
13: 73,832,487 (GRCm39) |
V402D |
probably damaging |
Het |
| Slco1a8 |
A |
T |
6: 141,917,961 (GRCm39) |
H638Q |
probably benign |
Het |
| Slco2b1 |
T |
A |
7: 99,316,301 (GRCm39) |
M410L |
probably benign |
Het |
| Smarca2 |
T |
C |
19: 26,753,469 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
A |
G |
1: 93,193,067 (GRCm39) |
Y409C |
probably damaging |
Het |
| Sorcs2 |
A |
G |
5: 36,386,555 (GRCm39) |
V161A |
probably damaging |
Het |
| Spring1 |
T |
C |
5: 118,397,504 (GRCm39) |
V162A |
probably damaging |
Het |
| Sptb |
T |
C |
12: 76,645,501 (GRCm39) |
E2029G |
possibly damaging |
Het |
| Stx7 |
T |
A |
10: 24,058,659 (GRCm39) |
|
probably null |
Het |
| Taf4b |
T |
C |
18: 14,937,611 (GRCm39) |
V228A |
probably benign |
Het |
| Tbc1d1 |
A |
G |
5: 64,507,273 (GRCm39) |
*1163W |
probably null |
Het |
| Tor4a |
G |
A |
2: 25,084,847 (GRCm39) |
A352V |
probably damaging |
Het |
| Trpm4 |
A |
G |
7: 44,977,173 (GRCm39) |
F81S |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,780,436 (GRCm39) |
D1105V |
probably damaging |
Het |
| Vcf1 |
T |
A |
11: 113,568,220 (GRCm39) |
R78S |
probably damaging |
Het |
| Yju2b |
T |
A |
8: 84,985,177 (GRCm39) |
D364V |
possibly damaging |
Het |
| Zfp551 |
A |
G |
7: 12,150,101 (GRCm39) |
L436P |
probably damaging |
Het |
| Zfp975 |
G |
T |
7: 42,312,312 (GRCm39) |
D100E |
probably benign |
Het |
| Zswim3 |
A |
G |
2: 164,662,032 (GRCm39) |
I171V |
probably benign |
Het |
| Zwint |
C |
T |
10: 72,492,294 (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 |
|
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 |
|
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'- TCCTAGTCACACATTATACATGCAC -3'
(R):5'- AAGGCAATCACTTTGTAGTCCTAGC -3'
Sequencing Primer
(F):5'- GTACATATATATGGCCTAAACCA -3'
(R):5'- CCTAGCTGAAGGTTGACTCTGC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation