Incidental Mutation 'R8391:Il23r'
| ID |
647377 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il23r
|
| Ensembl Gene |
ENSMUSG00000049093 |
| Gene Name |
interleukin 23 receptor |
| Synonyms |
|
| MMRRC Submission |
067756-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8391 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
67399916-67468839 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67429374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 323
(S323G)
|
| 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: S323G
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113342
Gene: ENSMUSG00000049093
AA Change: S323G
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
T |
C |
16: 20,368,968 (GRCm39) |
S155P |
possibly damaging |
Het |
| Akr1c21 |
C |
T |
13: 4,626,278 (GRCm39) |
R101W |
probably damaging |
Het |
| Angpt1 |
T |
A |
15: 42,375,794 (GRCm39) |
N154I |
probably damaging |
Het |
| Aoc1l2 |
T |
C |
6: 48,909,602 (GRCm39) |
W616R |
probably damaging |
Het |
| Atp2a1 |
T |
A |
7: 126,047,888 (GRCm39) |
I641F |
possibly damaging |
Het |
| Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
| Bltp3b |
T |
C |
10: 89,645,605 (GRCm39) |
V1226A |
possibly damaging |
Het |
| Cacna1b |
G |
A |
2: 24,596,212 (GRCm39) |
A493V |
probably damaging |
Het |
| Cacna1h |
G |
A |
17: 25,596,204 (GRCm39) |
A1939V |
probably benign |
Het |
| Cacna2d4 |
A |
G |
6: 119,325,706 (GRCm39) |
I1027V |
probably benign |
Het |
| Cbln3 |
G |
A |
14: 56,120,523 (GRCm39) |
R170C |
probably damaging |
Het |
| Cemip |
T |
C |
7: 83,604,517 (GRCm39) |
S842G |
probably damaging |
Het |
| Cep164 |
T |
A |
9: 45,718,491 (GRCm39) |
Q284L |
unknown |
Het |
| Crybg2 |
T |
C |
4: 133,803,035 (GRCm39) |
F889L |
probably damaging |
Het |
| Fhip1a |
T |
C |
3: 85,595,788 (GRCm39) |
N366D |
probably damaging |
Het |
| Gars1 |
T |
A |
6: 55,025,127 (GRCm39) |
Y124N |
probably damaging |
Het |
| Gbp2b |
T |
C |
3: 142,309,894 (GRCm39) |
F228S |
probably damaging |
Het |
| Gm5565 |
C |
A |
5: 146,096,962 (GRCm39) |
R59L |
probably benign |
Het |
| Gm8947 |
A |
T |
1: 151,068,737 (GRCm39) |
D190V |
probably benign |
Het |
| Grid2ip |
T |
C |
5: 143,365,951 (GRCm39) |
M543T |
probably damaging |
Het |
| Gucy2c |
A |
G |
6: 136,681,213 (GRCm39) |
L957P |
probably damaging |
Het |
| Hint1 |
T |
C |
11: 54,757,368 (GRCm39) |
I18T |
possibly damaging |
Het |
| Iqcf3 |
T |
G |
9: 106,438,175 (GRCm39) |
E16A |
unknown |
Het |
| Kcnj1 |
A |
T |
9: 32,308,028 (GRCm39) |
T151S |
probably damaging |
Het |
| Kdm1a |
G |
T |
4: 136,281,154 (GRCm39) |
T685K |
probably benign |
Het |
| Lipo4 |
T |
A |
19: 33,488,965 (GRCm39) |
H206L |
probably benign |
Het |
| Lrp5 |
A |
G |
19: 3,654,185 (GRCm39) |
Y1081H |
probably damaging |
Het |
| Masp1 |
A |
T |
16: 23,289,128 (GRCm39) |
H557Q |
possibly damaging |
Het |
| Nhsl1 |
C |
T |
10: 18,400,691 (GRCm39) |
T605I |
possibly damaging |
Het |
| Or1af1 |
T |
A |
2: 37,110,277 (GRCm39) |
Y259N |
probably damaging |
Het |
| Or1j21 |
C |
T |
2: 36,684,096 (GRCm39) |
P283S |
probably damaging |
Het |
| Pkmyt1 |
C |
T |
17: 23,954,013 (GRCm39) |
R307C |
probably damaging |
Het |
| Plppr4 |
T |
C |
3: 117,129,060 (GRCm39) |
I136V |
probably benign |
Het |
| Ppp1r12c |
A |
C |
7: 4,500,431 (GRCm39) |
Y150D |
probably damaging |
Het |
| Qrich2 |
C |
G |
11: 116,356,403 (GRCm39) |
V149L |
probably benign |
Het |
| R3hdm1 |
T |
C |
1: 128,121,215 (GRCm39) |
F176L |
|
Het |
| Ric8a |
T |
A |
7: 140,437,916 (GRCm39) |
S52T |
probably benign |
Het |
| Romo1 |
G |
T |
2: 155,986,340 (GRCm39) |
|
probably benign |
Het |
| Rps6ka1 |
G |
A |
4: 133,591,346 (GRCm39) |
H318Y |
probably damaging |
Het |
| Slc43a3 |
A |
G |
2: 84,768,151 (GRCm39) |
N41S |
probably benign |
Het |
| Srrm4 |
T |
G |
5: 116,582,755 (GRCm39) |
T567P |
unknown |
Het |
| Srsf12 |
C |
G |
4: 33,226,070 (GRCm39) |
P111R |
probably damaging |
Het |
| St6galnac4 |
G |
T |
2: 32,484,086 (GRCm39) |
D95Y |
probably damaging |
Het |
| Sult2a6 |
T |
C |
7: 13,956,516 (GRCm39) |
|
probably null |
Het |
| Synj2 |
A |
G |
17: 5,991,796 (GRCm39) |
E24G |
probably damaging |
Het |
| Try10 |
T |
G |
6: 41,334,306 (GRCm39) |
L166R |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,562,544 (GRCm39) |
V28767A |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,604,822 (GRCm39) |
I18371F |
probably damaging |
Het |
| Zc3h13 |
T |
A |
14: 75,568,625 (GRCm39) |
L1306Q |
probably damaging |
Het |
| Zp2 |
T |
A |
7: 119,726,179 (GRCm39) |
T674S |
probably benign |
Het |
| Zscan4-ps3 |
A |
G |
7: 11,346,801 (GRCm39) |
Y279C |
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 |
|
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 |
|
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'- CTCAATGATAGCAGGCAAGCTG -3'
(R):5'- AAAGTGCTCTGCTCTTGCTTG -3'
Sequencing Primer
(F):5'- TAGCAGGCAAGCTGAAAGAATGC -3'
(R):5'- AGTGCCCAGACTCTAATAGGTGTC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation