Incidental Mutation 'R0666:Il23r'
| ID |
62015 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il23r
|
| Ensembl Gene |
ENSMUSG00000049093 |
| Gene Name |
interleukin 23 receptor |
| Synonyms |
|
| MMRRC Submission |
038851-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0666 (G1)
|
| Quality Score |
122 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
67399916-67468839 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67411664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 358
(T358A)
|
| 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: T358A
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000113342
Gene: ENSMUSG00000049093
AA Change: T358A
| 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 |
0.1482 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.7%
|
| Validation Efficiency |
100% (89/89) |
| 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 |
|---|
| Akap6 |
T |
A |
12: 52,958,591 (GRCm39) |
V782E |
probably damaging |
Het |
| Atg9a |
A |
G |
1: 75,161,734 (GRCm39) |
L604P |
probably damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,689,974 (GRCm39) |
I482V |
probably benign |
Het |
| Bltp2 |
T |
G |
11: 78,178,813 (GRCm39) |
M2026R |
probably damaging |
Het |
| Bltp2 |
T |
A |
11: 78,168,038 (GRCm39) |
L1491* |
probably null |
Het |
| Ccdc18 |
T |
G |
5: 108,311,530 (GRCm39) |
V412G |
probably benign |
Het |
| Ccn6 |
T |
C |
10: 39,027,285 (GRCm39) |
R316G |
probably benign |
Het |
| Cct6a |
A |
G |
5: 129,871,449 (GRCm39) |
|
noncoding transcript |
Het |
| Clpx |
A |
G |
9: 65,217,507 (GRCm39) |
N25S |
probably damaging |
Het |
| Cnpy2 |
T |
A |
10: 128,162,894 (GRCm39) |
C171* |
probably null |
Het |
| Cntnap3 |
C |
T |
13: 64,905,211 (GRCm39) |
D857N |
probably damaging |
Het |
| Col5a1 |
A |
G |
2: 27,922,697 (GRCm39) |
Y255C |
probably damaging |
Het |
| Coro7 |
A |
T |
16: 4,449,775 (GRCm39) |
F638Y |
possibly damaging |
Het |
| Cpd |
A |
G |
11: 76,673,153 (GRCm39) |
F1331L |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 16,119,063 (GRCm39) |
I1842N |
possibly damaging |
Het |
| Dgkg |
T |
A |
16: 22,381,480 (GRCm39) |
D490V |
probably damaging |
Het |
| Dnah9 |
A |
T |
11: 65,976,284 (GRCm39) |
M1255K |
probably benign |
Het |
| E2f1 |
A |
G |
2: 154,402,849 (GRCm39) |
V306A |
probably benign |
Het |
| Entpd1 |
A |
G |
19: 40,648,350 (GRCm39) |
|
probably benign |
Het |
| Esrrb |
T |
A |
12: 86,552,676 (GRCm39) |
I222N |
probably benign |
Het |
| Flt4 |
G |
T |
11: 49,516,274 (GRCm39) |
A126S |
possibly damaging |
Het |
| Galnt11 |
C |
T |
5: 25,457,145 (GRCm39) |
T237I |
possibly damaging |
Het |
| Galnt2l |
A |
T |
8: 122,997,727 (GRCm39) |
|
probably benign |
Het |
| Gbf1 |
A |
G |
19: 46,250,983 (GRCm39) |
|
probably benign |
Het |
| H2-T9 |
T |
C |
17: 36,438,726 (GRCm39) |
T222A |
possibly damaging |
Het |
| Herc1 |
T |
A |
9: 66,392,170 (GRCm39) |
|
probably benign |
Het |
| Hsph1 |
T |
C |
5: 149,554,967 (GRCm39) |
Y105C |
probably damaging |
Het |
| Il2ra |
C |
T |
2: 11,647,884 (GRCm39) |
|
probably benign |
Het |
| Kbtbd4 |
G |
T |
2: 90,744,459 (GRCm39) |
|
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,781,255 (GRCm39) |
|
probably benign |
Het |
| Kng2 |
A |
G |
16: 22,815,872 (GRCm39) |
|
probably benign |
Het |
| Lap3 |
C |
T |
5: 45,669,270 (GRCm39) |
T473I |
possibly damaging |
Het |
| Lrrk2 |
T |
C |
15: 91,641,273 (GRCm39) |
|
probably null |
Het |
| Map1s |
A |
G |
8: 71,366,696 (GRCm39) |
N534D |
possibly damaging |
Het |
| Mtg1 |
G |
A |
7: 139,724,257 (GRCm39) |
V122I |
probably benign |
Het |
| Myadm |
T |
A |
7: 3,345,865 (GRCm39) |
I209K |
probably damaging |
Het |
| Ntsr2 |
G |
A |
12: 16,703,981 (GRCm39) |
V75I |
probably benign |
Het |
| Or4b1b |
A |
T |
2: 90,112,212 (GRCm39) |
S236T |
probably damaging |
Het |
| Or8u10 |
G |
A |
2: 85,915,557 (GRCm39) |
A188V |
probably benign |
Het |
| Pfn1 |
T |
C |
11: 70,545,192 (GRCm39) |
T39A |
probably benign |
Het |
| Pipox |
T |
A |
11: 77,774,651 (GRCm39) |
K144M |
probably benign |
Het |
| Plekhh1 |
G |
A |
12: 79,115,889 (GRCm39) |
E811K |
probably damaging |
Het |
| Pnpla3 |
T |
A |
15: 84,063,506 (GRCm39) |
W295R |
probably benign |
Het |
| Prkacb |
T |
A |
3: 146,457,273 (GRCm39) |
T136S |
probably damaging |
Het |
| Ralbp1 |
T |
A |
17: 66,161,124 (GRCm39) |
N473I |
probably benign |
Het |
| Rbp4 |
G |
A |
19: 38,106,908 (GRCm39) |
T127M |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rps3a1 |
G |
A |
3: 86,045,424 (GRCm39) |
|
probably benign |
Het |
| Scg3 |
G |
T |
9: 75,551,222 (GRCm39) |
Y429* |
probably null |
Het |
| Shisal2b |
G |
T |
13: 104,994,862 (GRCm39) |
T95K |
possibly damaging |
Het |
| Spag5 |
T |
C |
11: 78,204,222 (GRCm39) |
S492P |
probably damaging |
Het |
| St7 |
T |
A |
6: 17,934,238 (GRCm39) |
M540K |
probably damaging |
Het |
| Stxbp3 |
C |
A |
3: 108,712,618 (GRCm39) |
V281F |
possibly damaging |
Het |
| Sun5 |
A |
G |
2: 153,700,968 (GRCm39) |
V242A |
possibly damaging |
Het |
| Susd5 |
G |
T |
9: 113,924,852 (GRCm39) |
R245L |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 75,969,787 (GRCm39) |
E954G |
probably damaging |
Het |
| Synpo2 |
A |
T |
3: 122,907,708 (GRCm39) |
V536E |
probably damaging |
Het |
| Tas2r140 |
T |
C |
6: 133,032,405 (GRCm39) |
I118V |
probably benign |
Het |
| Tbx18 |
C |
A |
9: 87,606,462 (GRCm39) |
V228L |
probably benign |
Het |
| Tdrd9 |
T |
A |
12: 111,974,014 (GRCm39) |
|
probably benign |
Het |
| Tektl1 |
C |
A |
10: 78,586,381 (GRCm39) |
L223F |
probably benign |
Het |
| Tg |
T |
C |
15: 66,609,370 (GRCm39) |
M310T |
probably benign |
Het |
| Ticam2 |
T |
A |
18: 46,693,718 (GRCm39) |
D123V |
probably damaging |
Het |
| Timm23 |
A |
G |
14: 31,920,993 (GRCm39) |
|
probably benign |
Het |
| Tinag |
C |
T |
9: 76,912,969 (GRCm39) |
R280H |
probably benign |
Het |
| Topbp1 |
G |
A |
9: 103,186,011 (GRCm39) |
R51K |
probably benign |
Het |
| Tor1b |
A |
G |
2: 30,843,925 (GRCm39) |
I121V |
probably damaging |
Het |
| Tpmt |
C |
A |
13: 47,185,930 (GRCm39) |
G148V |
probably damaging |
Het |
| Tubb1 |
A |
G |
2: 174,299,548 (GRCm39) |
E410G |
probably damaging |
Het |
| Ubash3b |
C |
A |
9: 40,958,360 (GRCm39) |
V7L |
possibly damaging |
Het |
| Ube2o |
C |
T |
11: 116,433,661 (GRCm39) |
E686K |
probably damaging |
Het |
| Unc13d |
T |
A |
11: 115,960,318 (GRCm39) |
|
probably benign |
Het |
| Vmn1r183 |
A |
T |
7: 23,754,601 (GRCm39) |
M135L |
probably benign |
Het |
| Xkr8 |
T |
C |
4: 132,459,649 (GRCm39) |
Y43C |
probably damaging |
Het |
| Zc3h4 |
T |
A |
7: 16,168,697 (GRCm39) |
N935K |
unknown |
Het |
| Zc3h7a |
G |
A |
16: 10,974,167 (GRCm39) |
|
probably benign |
Het |
| Zfp84 |
C |
T |
7: 29,476,276 (GRCm39) |
H323Y |
probably damaging |
Het |
| Zfp873 |
G |
T |
10: 81,896,595 (GRCm39) |
S442I |
possibly damaging |
Het |
| Zfp938 |
A |
G |
10: 82,061,606 (GRCm39) |
L338P |
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 |
|
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 |
|
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'- CACCTCTGAACGATTGCTTGCATTC -3'
(R):5'- TGCAGCCAAACCAGAGACTGTC -3'
Sequencing Primer
(F):5'- TGAGGATACCTCAGCGAatatac -3'
(R):5'- GAGGTGACACAATTTAAACCGTC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation