Incidental Mutation 'R1984:Il23r'
| ID |
220315 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il23r
|
| Ensembl Gene |
ENSMUSG00000049093 |
| Gene Name |
interleukin 23 receptor |
| Synonyms |
|
| MMRRC Submission |
039996-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1984 (G1)
|
| Quality Score |
217 |
|
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: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
| Validation Efficiency |
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013D24Rik |
A |
T |
6: 124,324,778 (GRCm39) |
L81H |
probably damaging |
Het |
| Abca8b |
A |
G |
11: 109,868,667 (GRCm39) |
C166R |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,671,868 (GRCm39) |
E2242D |
probably damaging |
Het |
| Agap1 |
T |
C |
1: 89,694,045 (GRCm39) |
S448P |
probably benign |
Het |
| Aldh1a2 |
T |
C |
9: 71,160,334 (GRCm39) |
L120P |
probably damaging |
Het |
| Alkbh2 |
T |
C |
5: 114,262,115 (GRCm39) |
N205S |
probably benign |
Het |
| Anapc1 |
C |
A |
2: 128,511,608 (GRCm39) |
G493C |
possibly damaging |
Het |
| Aox3 |
A |
T |
1: 58,192,220 (GRCm39) |
I497F |
possibly damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,850,354 (GRCm39) |
S826P |
possibly damaging |
Het |
| Atp8b4 |
T |
A |
2: 126,164,928 (GRCm39) |
R1129S |
probably damaging |
Het |
| Bche |
T |
A |
3: 73,609,159 (GRCm39) |
Q89L |
probably benign |
Het |
| Bche |
G |
T |
3: 73,609,160 (GRCm39) |
Q89K |
probably benign |
Het |
| Bcl9 |
T |
C |
3: 97,121,050 (GRCm39) |
K171E |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,538,998 (GRCm39) |
Y1488N |
probably damaging |
Het |
| Dock8 |
A |
G |
19: 25,098,545 (GRCm39) |
N623S |
probably null |
Het |
| Dok6 |
T |
C |
18: 89,578,234 (GRCm39) |
E61G |
probably damaging |
Het |
| Duxf4 |
T |
A |
10: 58,071,785 (GRCm39) |
Q143L |
possibly damaging |
Het |
| Esf1 |
A |
T |
2: 139,990,806 (GRCm39) |
D559E |
possibly damaging |
Het |
| F11r |
A |
G |
1: 171,289,438 (GRCm39) |
I254V |
probably benign |
Het |
| Fkrp |
A |
G |
7: 16,545,802 (GRCm39) |
V20A |
probably benign |
Het |
| Fscb |
T |
C |
12: 64,521,457 (GRCm39) |
E3G |
unknown |
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 |
| Hspa4l |
T |
C |
3: 40,714,833 (GRCm39) |
V156A |
probably damaging |
Het |
| Igfn1 |
A |
G |
1: 135,889,782 (GRCm39) |
S2422P |
probably benign |
Het |
| Il24 |
G |
A |
1: 130,810,268 (GRCm39) |
T196I |
probably benign |
Het |
| Isg15 |
T |
C |
4: 156,284,250 (GRCm39) |
I93V |
probably benign |
Het |
| Kcna6 |
T |
C |
6: 126,715,473 (GRCm39) |
E472G |
probably benign |
Het |
| Kif21b |
G |
A |
1: 136,075,284 (GRCm39) |
D166N |
probably damaging |
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 |
| Marchf6 |
A |
T |
15: 31,469,792 (GRCm39) |
L726Q |
probably damaging |
Het |
| Megf6 |
G |
T |
4: 154,352,124 (GRCm39) |
G1210C |
probably damaging |
Het |
| Msh2 |
C |
T |
17: 88,026,724 (GRCm39) |
T740I |
probably damaging |
Het |
| Myh14 |
T |
C |
7: 44,288,446 (GRCm39) |
Y514C |
probably damaging |
Het |
| Myorg |
C |
A |
4: 41,497,501 (GRCm39) |
A710S |
possibly damaging |
Het |
| Nedd1 |
T |
C |
10: 92,550,022 (GRCm39) |
T88A |
possibly damaging |
Het |
| Nfkb1 |
G |
A |
3: 135,321,110 (GRCm39) |
T215I |
possibly damaging |
Het |
| Obox1 |
A |
T |
7: 15,289,135 (GRCm39) |
I17L |
probably benign |
Het |
| Or11g24 |
A |
T |
14: 50,662,848 (GRCm39) |
I291L |
possibly damaging |
Het |
| Palb2 |
A |
C |
7: 121,726,303 (GRCm39) |
H522Q |
probably damaging |
Het |
| Pde4c |
C |
T |
8: 71,177,191 (GRCm39) |
T6M |
probably damaging |
Het |
| Plekhg1 |
A |
G |
10: 3,908,181 (GRCm39) |
K97E |
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 |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Qrich1 |
T |
C |
9: 108,411,246 (GRCm39) |
V257A |
probably damaging |
Het |
| Rpl14 |
A |
G |
9: 120,401,253 (GRCm39) |
D32G |
possibly damaging |
Het |
| Senp8 |
A |
G |
9: 59,644,721 (GRCm39) |
V132A |
possibly damaging |
Het |
| Serac1 |
A |
G |
17: 6,095,964 (GRCm39) |
|
probably null |
Het |
| Sh2d3c |
T |
A |
2: 32,639,256 (GRCm39) |
C295* |
probably null |
Het |
| Stab1 |
A |
G |
14: 30,872,605 (GRCm39) |
F1142L |
probably benign |
Het |
| Stam2 |
T |
C |
2: 52,599,638 (GRCm39) |
T257A |
possibly damaging |
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 |
| Tg |
A |
G |
15: 66,554,691 (GRCm39) |
E702G |
probably benign |
Het |
| Tgif2lx2 |
A |
T |
X: 117,337,690 (GRCm39) |
K218* |
probably null |
Het |
| Tpp1 |
C |
A |
7: 105,400,905 (GRCm39) |
V41L |
probably benign |
Het |
| Tulp3 |
A |
T |
6: 128,303,769 (GRCm39) |
S277T |
probably benign |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
| Zfp683 |
T |
C |
4: 133,784,766 (GRCm39) |
F338L |
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 |
|
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 |
|
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'- GAATGTGACCTCTATCTGCCC -3'
Sequencing Primer
(F):5'- GGATTATTTTTAGTTTGTTCCATCCC -3'
(R):5'- CTGTTATTTTGAATGCAAGGATTCC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation