Incidental Mutation 'R1887:Il23r'
| ID |
209637 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il23r
|
| Ensembl Gene |
ENSMUSG00000049093 |
| Gene Name |
interleukin 23 receptor |
| Synonyms |
|
| MMRRC Submission |
039908-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1887 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
67399916-67468839 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 67450785 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 231
(D231E)
|
| 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: D231E
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113342
Gene: ENSMUSG00000049093
AA Change: D231E
| 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: 97.1%
- 3x: 96.1%
- 10x: 93.2%
- 20x: 86.9%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
C |
6: 146,853,909 (GRCm39) |
I249M |
possibly damaging |
Het |
| 1700102P08Rik |
T |
A |
9: 108,270,809 (GRCm39) |
D124E |
possibly damaging |
Het |
| 4930544D05Rik |
A |
G |
11: 70,507,249 (GRCm39) |
E98G |
probably damaging |
Het |
| Abca8a |
A |
T |
11: 109,980,768 (GRCm39) |
M90K |
probably damaging |
Het |
| Adamts9 |
A |
G |
6: 92,849,769 (GRCm39) |
|
probably null |
Het |
| Adora3 |
A |
C |
3: 105,812,152 (GRCm39) |
N13H |
possibly damaging |
Het |
| Aen |
A |
T |
7: 78,557,073 (GRCm39) |
D307V |
probably damaging |
Het |
| Akr1c18 |
T |
A |
13: 4,193,287 (GRCm39) |
N126I |
probably benign |
Het |
| Ankmy2 |
T |
A |
12: 36,220,467 (GRCm39) |
M51K |
possibly damaging |
Het |
| Antkmt |
C |
A |
17: 26,010,319 (GRCm39) |
|
probably null |
Het |
| Apc |
A |
G |
18: 34,405,521 (GRCm39) |
E159G |
probably damaging |
Het |
| Arhgef28 |
G |
T |
13: 98,282,081 (GRCm39) |
S4R |
probably damaging |
Het |
| Atg2b |
G |
A |
12: 105,620,351 (GRCm39) |
T784M |
probably benign |
Het |
| Atp11a |
A |
G |
8: 12,862,324 (GRCm39) |
N59D |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,595,861 (GRCm39) |
Y1875C |
probably benign |
Het |
| Capza1 |
A |
T |
3: 104,747,096 (GRCm39) |
|
probably null |
Het |
| Ccdc81 |
T |
C |
7: 89,515,819 (GRCm39) |
E620G |
possibly damaging |
Het |
| Cdcp2 |
T |
C |
4: 106,959,899 (GRCm39) |
F105L |
probably damaging |
Het |
| Cdhr18 |
A |
C |
14: 13,828,607 (GRCm38) |
Y718D |
probably damaging |
Het |
| Cep152 |
A |
T |
2: 125,462,225 (GRCm39) |
M58K |
probably benign |
Het |
| Comtd1 |
A |
G |
14: 21,897,809 (GRCm39) |
L108P |
probably damaging |
Het |
| Cyp2b13 |
A |
G |
7: 25,788,075 (GRCm39) |
Y401C |
probably damaging |
Het |
| Dap3 |
A |
G |
3: 88,838,281 (GRCm39) |
L86P |
probably damaging |
Het |
| Dmxl1 |
G |
A |
18: 49,992,202 (GRCm39) |
R316H |
probably benign |
Het |
| Eea1 |
T |
A |
10: 95,854,073 (GRCm39) |
|
probably null |
Het |
| Eeig1 |
T |
A |
2: 32,450,140 (GRCm39) |
N129K |
possibly damaging |
Het |
| Ezhip |
GTCATCATCATCATC |
GTCATCATCATCATCATC |
X: 5,994,645 (GRCm39) |
|
probably benign |
Het |
| Fam171a1 |
T |
C |
2: 3,221,380 (GRCm39) |
V157A |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,878,357 (GRCm39) |
I3375F |
probably damaging |
Het |
| Fmod |
A |
G |
1: 133,968,551 (GRCm39) |
E197G |
possibly damaging |
Het |
| Fsd1l |
T |
C |
4: 53,696,984 (GRCm39) |
|
probably null |
Het |
| Gbp2b |
A |
G |
3: 142,314,063 (GRCm39) |
T448A |
probably benign |
Het |
| Gpatch1 |
A |
T |
7: 35,002,813 (GRCm39) |
N232K |
probably damaging |
Het |
| H2-Q4 |
A |
G |
17: 35,599,113 (GRCm39) |
R128G |
possibly damaging |
Het |
| Hc |
T |
C |
2: 34,924,623 (GRCm39) |
I435V |
probably benign |
Het |
| Hmgxb3 |
A |
G |
18: 61,270,473 (GRCm39) |
|
probably null |
Het |
| Irag1 |
A |
G |
7: 110,523,740 (GRCm39) |
|
probably null |
Het |
| Kcnt2 |
T |
A |
1: 140,511,985 (GRCm39) |
S1023T |
probably damaging |
Het |
| Klc2 |
A |
G |
19: 5,158,640 (GRCm39) |
V618A |
probably benign |
Het |
| Lzts1 |
T |
C |
8: 69,591,485 (GRCm39) |
D221G |
probably damaging |
Het |
| Mdn1 |
G |
C |
4: 32,742,540 (GRCm39) |
R3926P |
probably damaging |
Het |
| Med24 |
A |
G |
11: 98,609,642 (GRCm39) |
|
probably benign |
Het |
| Mga |
T |
A |
2: 119,754,098 (GRCm39) |
L869Q |
probably damaging |
Het |
| Mob3a |
G |
A |
10: 80,527,068 (GRCm39) |
Q86* |
probably null |
Het |
| Ncoa7 |
T |
C |
10: 30,524,448 (GRCm39) |
N823S |
possibly damaging |
Het |
| Nlrp5 |
T |
A |
7: 23,116,909 (GRCm39) |
V211D |
probably damaging |
Het |
| Nr1h4 |
A |
T |
10: 89,290,729 (GRCm39) |
M433K |
possibly damaging |
Het |
| Ofcc1 |
T |
C |
13: 40,360,100 (GRCm39) |
S310G |
possibly damaging |
Het |
| Or4k49 |
G |
T |
2: 111,495,099 (GRCm39) |
S176I |
probably damaging |
Het |
| Or5p57 |
T |
C |
7: 107,665,985 (GRCm39) |
N7D |
probably benign |
Het |
| Or8k22 |
A |
G |
2: 86,163,617 (GRCm39) |
F28L |
possibly damaging |
Het |
| Pdlim7 |
C |
T |
13: 55,653,981 (GRCm39) |
G212D |
probably benign |
Het |
| Pdzd4 |
G |
A |
X: 72,839,052 (GRCm39) |
R419C |
probably damaging |
Het |
| Pik3cd |
T |
A |
4: 149,737,091 (GRCm39) |
I902F |
probably damaging |
Het |
| Pip5kl1 |
A |
G |
2: 32,468,517 (GRCm39) |
T198A |
probably damaging |
Het |
| Prkdc |
T |
C |
16: 15,647,499 (GRCm39) |
V3641A |
probably benign |
Het |
| Rp1l1 |
T |
C |
14: 64,265,839 (GRCm39) |
V475A |
probably benign |
Het |
| Rpl37 |
C |
T |
15: 5,148,072 (GRCm39) |
T83M |
possibly damaging |
Het |
| Scml4 |
A |
G |
10: 42,788,223 (GRCm39) |
Y51C |
probably damaging |
Het |
| Serinc5 |
A |
T |
13: 92,838,214 (GRCm39) |
D340V |
possibly damaging |
Het |
| Stambpl1 |
A |
G |
19: 34,213,808 (GRCm39) |
I346V |
probably benign |
Het |
| Syna |
G |
A |
5: 134,588,106 (GRCm39) |
S281L |
probably benign |
Het |
| Tcstv2a |
G |
T |
13: 120,725,604 (GRCm39) |
K89N |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,193,094 (GRCm39) |
T447A |
possibly damaging |
Het |
| Tgfbr3 |
A |
G |
5: 107,284,874 (GRCm39) |
F592L |
probably damaging |
Het |
| Tmc7 |
A |
T |
7: 118,160,310 (GRCm39) |
F176I |
possibly damaging |
Het |
| Trip4 |
T |
A |
9: 65,782,163 (GRCm39) |
I190F |
probably null |
Het |
| Ttc6 |
T |
A |
12: 57,720,044 (GRCm39) |
S872T |
probably benign |
Het |
| Ttc7b |
C |
T |
12: 100,381,389 (GRCm39) |
|
probably null |
Het |
| Ubap2 |
C |
T |
4: 41,199,872 (GRCm39) |
A752T |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,182,871 (GRCm39) |
L419P |
probably damaging |
Het |
| Ush2a |
C |
A |
1: 188,132,177 (GRCm39) |
Q800K |
probably benign |
Het |
| Vmn2r115 |
T |
C |
17: 23,565,007 (GRCm39) |
I298T |
possibly damaging |
Het |
| Vmn2r28 |
T |
C |
7: 5,491,288 (GRCm39) |
T320A |
possibly damaging |
Het |
| Zfp804b |
T |
C |
5: 6,820,376 (GRCm39) |
R860G |
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 |
|
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'- ATATCTAAAGGTAGAGCTGCCCC -3'
(R):5'- CATTCAAAGTTTCTGGAGCAAGG -3'
Sequencing Primer
(F):5'- TAAAGGTAGAGCTGCCCCTCATG -3'
(R):5'- ACAAAGTAAATATAACCTGTGGTTGG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation