Incidental Mutation 'R7529:Il23r'
| ID |
583189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il23r
|
| Ensembl Gene |
ENSMUSG00000049093 |
| Gene Name |
interleukin 23 receptor |
| Synonyms |
|
| MMRRC Submission |
045601-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7529 (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 A
at 67467720 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 16
(M16L)
|
| 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: M16L
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113342
Gene: ENSMUSG00000049093
AA Change: M16L
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (79/79) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130023H24Rik |
T |
A |
7: 127,836,336 (GRCm39) |
K86* |
probably null |
Het |
| Ablim3 |
A |
C |
18: 61,955,039 (GRCm39) |
S317A |
probably benign |
Het |
| Adcy1 |
T |
C |
11: 7,089,157 (GRCm39) |
S524P |
probably damaging |
Het |
| Agps |
C |
A |
2: 75,662,696 (GRCm39) |
A47E |
possibly damaging |
Het |
| Arhgef15 |
G |
T |
11: 68,844,848 (GRCm39) |
R250S |
probably damaging |
Het |
| Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
| Atoh8 |
G |
T |
6: 72,200,825 (GRCm39) |
D288E |
probably benign |
Het |
| B3galt2 |
A |
C |
1: 143,522,274 (GRCm39) |
K137Q |
probably benign |
Het |
| Cacna2d4 |
G |
A |
6: 119,247,727 (GRCm39) |
V343I |
probably benign |
Het |
| Cage1 |
T |
C |
13: 38,209,731 (GRCm39) |
N82S |
possibly damaging |
Het |
| Cep350 |
A |
G |
1: 155,737,669 (GRCm39) |
S2725P |
probably benign |
Het |
| Cfap65 |
T |
C |
1: 74,965,769 (GRCm39) |
N414D |
probably damaging |
Het |
| Cgnl1 |
A |
C |
9: 71,539,040 (GRCm39) |
L1154R |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,233,942 (GRCm39) |
M382K |
probably benign |
Het |
| Dchs2 |
G |
A |
3: 83,261,705 (GRCm39) |
V2658M |
possibly damaging |
Het |
| Dlgap5 |
T |
C |
14: 47,653,876 (GRCm39) |
N51S |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 117,940,692 (GRCm39) |
|
probably null |
Het |
| Dnal1 |
A |
G |
12: 84,178,117 (GRCm39) |
I35V |
probably benign |
Het |
| Dtnbp1 |
A |
G |
13: 45,084,546 (GRCm39) |
F198S |
probably damaging |
Het |
| Edar |
A |
T |
10: 58,447,830 (GRCm39) |
S160T |
probably benign |
Het |
| Enpp3 |
A |
T |
10: 24,674,072 (GRCm39) |
N409K |
probably damaging |
Het |
| Ercc6 |
T |
A |
14: 32,282,686 (GRCm39) |
C726* |
probably null |
Het |
| Extl2 |
G |
A |
3: 115,821,055 (GRCm39) |
V301I |
possibly damaging |
Het |
| G2e3 |
A |
G |
12: 51,418,387 (GRCm39) |
Q594R |
probably damaging |
Het |
| Gal3st2c |
A |
G |
1: 93,937,039 (GRCm39) |
N328S |
probably benign |
Het |
| Galnt17 |
A |
G |
5: 131,335,218 (GRCm39) |
V74A |
probably damaging |
Het |
| Ggta1 |
A |
G |
2: 35,304,256 (GRCm39) |
W76R |
probably damaging |
Het |
| Gm9772 |
T |
A |
17: 22,226,140 (GRCm39) |
D48V |
probably benign |
Het |
| Herpud2 |
T |
C |
9: 25,020,193 (GRCm39) |
T388A |
probably damaging |
Het |
| Ighv5-9-1 |
A |
G |
12: 113,699,954 (GRCm39) |
S53P |
possibly damaging |
Het |
| Ints1 |
G |
A |
5: 139,753,481 (GRCm39) |
A717V |
possibly damaging |
Het |
| Itpr2 |
A |
T |
6: 146,096,096 (GRCm39) |
L2122Q |
probably damaging |
Het |
| Klrg2 |
A |
T |
6: 38,607,266 (GRCm39) |
V248E |
probably damaging |
Het |
| Krtap5-5 |
A |
G |
7: 141,783,429 (GRCm39) |
C74R |
unknown |
Het |
| Luzp1 |
G |
T |
4: 136,268,243 (GRCm39) |
L155F |
probably damaging |
Het |
| Mcam |
T |
C |
9: 44,050,192 (GRCm39) |
V209A |
probably benign |
Het |
| Med1 |
G |
C |
11: 98,046,791 (GRCm39) |
T1335R |
unknown |
Het |
| Mroh2b |
A |
G |
15: 4,978,491 (GRCm39) |
I1346V |
probably damaging |
Het |
| Mrpl4 |
C |
G |
9: 20,918,975 (GRCm39) |
Q201E |
probably benign |
Het |
| Muc21 |
A |
T |
17: 35,930,123 (GRCm39) |
S1354R |
unknown |
Het |
| Mylk2 |
T |
C |
2: 152,757,624 (GRCm39) |
L326P |
probably damaging |
Het |
| Myot |
A |
T |
18: 44,479,240 (GRCm39) |
R326* |
probably null |
Het |
| Nox3 |
T |
A |
17: 3,722,050 (GRCm39) |
R288S |
probably damaging |
Het |
| Nox4 |
A |
T |
7: 87,044,976 (GRCm39) |
Y572F |
unknown |
Het |
| Or2v2 |
A |
G |
11: 49,003,686 (GRCm39) |
L289P |
probably damaging |
Het |
| Or5an10 |
A |
G |
19: 12,276,086 (GRCm39) |
S137P |
probably damaging |
Het |
| Pcdhb15 |
G |
T |
18: 37,607,526 (GRCm39) |
E253* |
probably null |
Het |
| Plcb2 |
T |
C |
2: 118,540,715 (GRCm39) |
H1052R |
probably damaging |
Het |
| Plpp5 |
A |
T |
8: 26,214,233 (GRCm39) |
Q250L |
probably benign |
Het |
| Plxna2 |
T |
C |
1: 194,326,179 (GRCm39) |
Y38H |
probably benign |
Het |
| Pnpla8 |
A |
G |
12: 44,329,963 (GRCm39) |
K172E |
probably benign |
Het |
| Pramel23 |
T |
C |
4: 143,429,244 (GRCm39) |
|
|
Het |
| Prl8a9 |
T |
A |
13: 27,744,511 (GRCm39) |
D110V |
probably benign |
Het |
| Prrx1 |
T |
C |
1: 163,081,533 (GRCm39) |
|
probably null |
Het |
| Prss52 |
T |
A |
14: 64,347,037 (GRCm39) |
H70Q |
probably benign |
Het |
| Rcc1 |
T |
C |
4: 132,061,874 (GRCm39) |
T300A |
probably benign |
Het |
| Rnf114 |
T |
C |
2: 167,349,014 (GRCm39) |
V64A |
possibly damaging |
Het |
| Rnf168 |
T |
C |
16: 32,117,732 (GRCm39) |
I431T |
probably damaging |
Het |
| Rnmt |
A |
G |
18: 68,444,726 (GRCm39) |
M232V |
probably benign |
Het |
| Rrs1 |
A |
C |
1: 9,616,417 (GRCm39) |
Q223H |
probably benign |
Het |
| Scyl3 |
A |
T |
1: 163,771,438 (GRCm39) |
L261F |
probably damaging |
Het |
| Slc24a4 |
A |
T |
12: 102,230,707 (GRCm39) |
T533S |
probably benign |
Het |
| Slc26a2 |
A |
G |
18: 61,331,430 (GRCm39) |
L667P |
probably damaging |
Het |
| Snrnp40 |
T |
A |
4: 130,278,275 (GRCm39) |
V260D |
possibly damaging |
Het |
| Snrpa |
A |
C |
7: 26,888,878 (GRCm39) |
M174R |
probably benign |
Het |
| Ss18l1 |
C |
T |
2: 179,699,950 (GRCm39) |
A270V |
possibly damaging |
Het |
| Stk19 |
G |
T |
17: 35,043,632 (GRCm39) |
Q193K |
probably benign |
Het |
| Syne1 |
T |
A |
10: 5,374,382 (GRCm39) |
I142L |
probably damaging |
Het |
| Tbx2 |
T |
C |
11: 85,731,727 (GRCm39) |
S675P |
probably benign |
Het |
| Tcaf1 |
A |
G |
6: 42,652,289 (GRCm39) |
I731T |
probably damaging |
Het |
| Tg |
G |
T |
15: 66,566,617 (GRCm39) |
G1222W |
probably damaging |
Het |
| Tsc2 |
A |
G |
17: 24,816,922 (GRCm39) |
F1581L |
probably damaging |
Het |
| Ubr4 |
G |
C |
4: 139,149,728 (GRCm39) |
V520L |
probably benign |
Het |
| Wls |
A |
T |
3: 159,578,644 (GRCm39) |
N69Y |
probably benign |
Het |
| Wnk2 |
A |
G |
13: 49,254,457 (GRCm39) |
F353L |
possibly damaging |
Het |
| Xkr6 |
G |
T |
14: 64,056,610 (GRCm39) |
V430F |
probably benign |
Het |
| Zfp64 |
C |
T |
2: 168,735,992 (GRCm39) |
G562R |
probably benign |
Het |
| Zfp663 |
T |
G |
2: 165,194,728 (GRCm39) |
E497A |
probably damaging |
Het |
| Zfp995 |
A |
T |
17: 22,099,333 (GRCm39) |
C300* |
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 |
|
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'- CCTGCATTTGAAAGGAAGTTGG -3'
(R):5'- AATGTGACCTCTATCTGCCCTG -3'
Sequencing Primer
(F):5'- GGATTATTTTTAGTTTGTTCCATCCC -3'
(R):5'- CCTGTTTCTGTTATTTTGAATGCAAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation