Incidental Mutation 'R7757:Il23r'
| ID |
597604 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il23r
|
| Ensembl Gene |
ENSMUSG00000049093 |
| Gene Name |
interleukin 23 receptor |
| Synonyms |
|
| MMRRC Submission |
045813-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7757 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
67399916-67468839 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 67400965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 455
(D455A)
|
| 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: D455A
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000113342
Gene: ENSMUSG00000049093
AA Change: D455A
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
96% (70/73) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
A |
12: 71,236,187 (GRCm39) |
M1179I |
probably benign |
Het |
| 6430550D23Rik |
T |
C |
2: 155,845,351 (GRCm39) |
T18A |
possibly damaging |
Het |
| Acox2 |
T |
C |
14: 8,230,166 (GRCm38) |
N659S |
probably damaging |
Het |
| Agk |
T |
C |
6: 40,353,212 (GRCm39) |
V192A |
possibly damaging |
Het |
| Ap3b1 |
T |
A |
13: 94,664,666 (GRCm39) |
|
probably null |
Het |
| Bche |
T |
A |
3: 73,608,454 (GRCm39) |
D324V |
probably damaging |
Het |
| Bsn |
A |
G |
9: 107,991,939 (GRCm39) |
I1271T |
possibly damaging |
Het |
| Capn12 |
T |
C |
7: 28,582,246 (GRCm39) |
L120P |
probably damaging |
Het |
| Cep290 |
T |
A |
10: 100,399,296 (GRCm39) |
S2273T |
probably benign |
Het |
| Ckap4 |
T |
C |
10: 84,364,331 (GRCm39) |
E244G |
probably damaging |
Het |
| Clcn7 |
T |
C |
17: 25,375,796 (GRCm39) |
Y545H |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,234,780 (GRCm39) |
T103S |
possibly damaging |
Het |
| Cplane1 |
A |
T |
15: 8,281,711 (GRCm39) |
E2850V |
unknown |
Het |
| Cpne9 |
G |
A |
6: 113,261,406 (GRCm39) |
V121M |
possibly damaging |
Het |
| Csmd2 |
T |
A |
4: 128,377,249 (GRCm39) |
I2043N |
|
Het |
| Disc1 |
A |
G |
8: 125,814,243 (GRCm39) |
T36A |
probably benign |
Het |
| Disp2 |
T |
C |
2: 118,621,391 (GRCm39) |
Y708H |
probably damaging |
Het |
| Dnah3 |
A |
G |
7: 119,670,793 (GRCm39) |
V635A |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,570,438 (GRCm39) |
|
probably null |
Het |
| Dync1li1 |
A |
G |
9: 114,538,345 (GRCm39) |
H234R |
possibly damaging |
Het |
| Egfr |
T |
C |
11: 16,839,966 (GRCm39) |
V660A |
possibly damaging |
Het |
| Epb42 |
T |
C |
2: 120,858,200 (GRCm39) |
R253G |
possibly damaging |
Het |
| Fat2 |
T |
A |
11: 55,202,247 (GRCm39) |
T276S |
probably benign |
Het |
| Fcho2 |
A |
G |
13: 98,901,011 (GRCm39) |
|
probably null |
Het |
| Ginm1 |
A |
T |
10: 7,655,119 (GRCm39) |
I41N |
probably damaging |
Het |
| Gm4744 |
A |
G |
6: 40,927,367 (GRCm39) |
|
probably benign |
Het |
| Gm49368 |
C |
T |
7: 127,711,398 (GRCm39) |
R701C |
probably damaging |
Het |
| Gpr37 |
T |
A |
6: 25,688,207 (GRCm39) |
I297F |
probably benign |
Het |
| Gprc5a |
T |
A |
6: 135,056,342 (GRCm39) |
I263N |
possibly damaging |
Het |
| Gys2 |
A |
T |
6: 142,400,177 (GRCm39) |
S345T |
probably benign |
Het |
| Hk2 |
T |
C |
6: 82,719,896 (GRCm39) |
M255V |
possibly damaging |
Het |
| Ibtk |
A |
C |
9: 85,579,290 (GRCm39) |
S1202A |
possibly damaging |
Het |
| Irs2 |
T |
A |
8: 11,056,522 (GRCm39) |
K637* |
probably null |
Het |
| Jak2 |
T |
C |
19: 29,260,946 (GRCm39) |
V314A |
probably benign |
Het |
| Mei1 |
C |
T |
15: 81,966,824 (GRCm39) |
|
probably benign |
Het |
| Mill1 |
T |
C |
7: 17,996,391 (GRCm39) |
M69T |
probably benign |
Het |
| Mms22l |
T |
C |
4: 24,598,884 (GRCm39) |
|
probably null |
Het |
| Mup8 |
C |
A |
4: 60,220,332 (GRCm39) |
Q133H |
probably benign |
Het |
| Mup8 |
T |
A |
4: 60,220,333 (GRCm39) |
Q133L |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,429,055 (GRCm39) |
Y2374N |
probably damaging |
Het |
| Nbeal1 |
A |
T |
1: 60,296,609 (GRCm39) |
K1166N |
probably damaging |
Het |
| Nlrc4 |
T |
A |
17: 74,755,191 (GRCm39) |
R8S |
probably benign |
Het |
| Nrcam |
C |
T |
12: 44,596,681 (GRCm39) |
Q25* |
probably null |
Het |
| Nudt16 |
A |
C |
9: 105,008,760 (GRCm39) |
M47R |
probably damaging |
Het |
| Nup62 |
T |
C |
7: 44,478,419 (GRCm39) |
S145P |
probably benign |
Het |
| Or10d1 |
A |
G |
9: 39,483,761 (GRCm39) |
W265R |
probably benign |
Het |
| Or4c117 |
T |
C |
2: 88,955,333 (GRCm39) |
I247M |
possibly damaging |
Het |
| Osbpl1a |
A |
T |
18: 13,066,657 (GRCm39) |
V34D |
probably benign |
Het |
| Otogl |
T |
A |
10: 107,712,782 (GRCm39) |
N521Y |
probably damaging |
Het |
| Pcdhb14 |
T |
A |
18: 37,582,887 (GRCm39) |
D664E |
possibly damaging |
Het |
| Pex5l |
T |
C |
3: 33,136,300 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,632,639 (GRCm39) |
L592P |
probably damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,734,187 (GRCm39) |
H480R |
probably benign |
Het |
| Rnf216 |
T |
A |
5: 143,065,991 (GRCm39) |
K532N |
probably damaging |
Het |
| Schip1 |
C |
A |
3: 68,525,028 (GRCm39) |
Q358K |
probably damaging |
Het |
| Sdc2 |
A |
T |
15: 33,028,233 (GRCm39) |
E117V |
possibly damaging |
Het |
| Septin11 |
A |
T |
5: 93,319,323 (GRCm39) |
|
probably null |
Het |
| Shprh |
A |
T |
10: 11,037,924 (GRCm39) |
E420V |
probably benign |
Het |
| Ska1 |
T |
A |
18: 74,330,044 (GRCm39) |
H232L |
probably benign |
Het |
| Slc36a4 |
A |
G |
9: 15,630,956 (GRCm39) |
N25S |
possibly damaging |
Het |
| Slitrk3 |
G |
A |
3: 72,958,172 (GRCm39) |
T200M |
probably damaging |
Het |
| Smad2 |
C |
T |
18: 76,421,084 (GRCm39) |
H138Y |
probably benign |
Het |
| Snx21 |
T |
C |
2: 164,628,085 (GRCm39) |
S34P |
probably damaging |
Het |
| Sos2 |
A |
G |
12: 69,695,359 (GRCm39) |
V126A |
probably damaging |
Het |
| Srcap |
C |
T |
7: 127,129,966 (GRCm39) |
T596I |
probably damaging |
Het |
| Stk31 |
T |
G |
6: 49,383,877 (GRCm39) |
|
probably null |
Het |
| Stox1 |
T |
C |
10: 62,499,743 (GRCm39) |
D939G |
probably damaging |
Het |
| Syne2 |
G |
T |
12: 76,108,553 (GRCm39) |
C979F |
possibly damaging |
Het |
| Tanc2 |
C |
A |
11: 105,667,684 (GRCm39) |
N88K |
possibly damaging |
Het |
| Tll2 |
A |
T |
19: 41,084,447 (GRCm39) |
V677E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,748,834 (GRCm39) |
T4072A |
probably benign |
Het |
| Unc13b |
CAGAGC |
CAGAGCGAGAGC |
4: 43,177,341 (GRCm39) |
|
probably benign |
Het |
| Unc13b |
CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
4: 43,177,312 (GRCm39) |
|
probably benign |
Het |
| Unc13b |
AGAGCC |
AGAGCCCGAGCC |
4: 43,177,330 (GRCm39) |
|
probably benign |
Het |
| Vmn2r43 |
A |
T |
7: 8,258,253 (GRCm39) |
F320Y |
possibly damaging |
Het |
| Zscan4f |
G |
T |
7: 11,135,205 (GRCm39) |
G204* |
probably null |
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 |
|
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 |
|
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'- AACCTGGGGTTTGTATCCAG -3'
(R):5'- GACCTACGTAAAGATTTAGAACAGACC -3'
Sequencing Primer
(F):5'- TCCAGTGTTGAGGTCAGGAATATAC -3'
(R):5'- TTTAGAACAGACCAAAAAGGCAG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation