Incidental Mutation 'R1628:Il23r'
| ID |
172606 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il23r
|
| Ensembl Gene |
ENSMUSG00000049093 |
| Gene Name |
interleukin 23 receptor |
| Synonyms |
|
| MMRRC Submission |
039665-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1628 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
67399916-67468839 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 67400593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 579
(L579S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113342
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118364]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118364
AA Change: L579S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113342
Gene: ENSMUSG00000049093
AA Change: L579S
| 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 |
0.2398 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.7%
|
| Validation Efficiency |
99% (75/76) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
C |
T |
17: 84,999,419 (GRCm39) |
Q172* |
probably null |
Het |
| AI467606 |
G |
A |
7: 126,691,755 (GRCm39) |
G110D |
probably benign |
Het |
| Arhgef15 |
A |
C |
11: 68,835,640 (GRCm39) |
L805R |
possibly damaging |
Het |
| B3galnt1 |
G |
A |
3: 69,482,961 (GRCm39) |
T100I |
probably damaging |
Het |
| Bod1l |
T |
A |
5: 41,974,325 (GRCm39) |
M2330L |
probably benign |
Het |
| Calcr |
A |
T |
6: 3,700,251 (GRCm39) |
H280Q |
possibly damaging |
Het |
| Camk1d |
T |
C |
2: 5,315,848 (GRCm39) |
D263G |
probably damaging |
Het |
| Cd48 |
T |
A |
1: 171,532,420 (GRCm39) |
I233N |
probably damaging |
Het |
| Cyp3a25 |
A |
T |
5: 145,938,273 (GRCm39) |
Y68* |
probably null |
Het |
| Dapk3 |
C |
A |
10: 81,027,643 (GRCm39) |
T227K |
possibly damaging |
Het |
| Dnajc22 |
A |
G |
15: 98,998,817 (GRCm39) |
M1V |
probably null |
Het |
| Etv5 |
C |
T |
16: 22,220,421 (GRCm39) |
|
probably null |
Het |
| Gabrr1 |
A |
G |
4: 33,152,432 (GRCm39) |
Y124C |
probably damaging |
Het |
| Gba2 |
C |
T |
4: 43,570,118 (GRCm39) |
R392Q |
probably benign |
Het |
| Gli3 |
C |
G |
13: 15,900,897 (GRCm39) |
A1428G |
probably benign |
Het |
| Gls |
G |
A |
1: 52,271,835 (GRCm39) |
A106V |
probably benign |
Het |
| Gm21370 |
A |
G |
13: 120,488,414 (GRCm39) |
V45A |
possibly damaging |
Het |
| Gpr4 |
A |
G |
7: 18,957,124 (GRCm39) |
T349A |
probably benign |
Het |
| Gpr6 |
C |
T |
10: 40,947,544 (GRCm39) |
V13M |
possibly damaging |
Het |
| Gvin3 |
A |
T |
7: 106,202,476 (GRCm39) |
L256* |
probably null |
Het |
| Hectd3 |
A |
G |
4: 116,854,589 (GRCm39) |
H345R |
probably damaging |
Het |
| Igfl3 |
A |
T |
7: 17,914,232 (GRCm39) |
K135N |
probably benign |
Het |
| Itsn2 |
A |
C |
12: 4,679,652 (GRCm39) |
M154L |
probably benign |
Het |
| Junb |
T |
A |
8: 85,705,039 (GRCm39) |
Q7L |
possibly damaging |
Het |
| Kif21b |
T |
A |
1: 136,098,958 (GRCm39) |
H1415Q |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klhdc10 |
T |
G |
6: 30,444,461 (GRCm39) |
F79L |
probably damaging |
Het |
| Klk1b8 |
A |
G |
7: 43,603,565 (GRCm39) |
|
probably null |
Het |
| Lmbrd2 |
T |
A |
15: 9,182,593 (GRCm39) |
N509K |
probably damaging |
Het |
| Mctp2 |
A |
G |
7: 71,861,337 (GRCm39) |
|
probably null |
Het |
| Myo3b |
A |
G |
2: 70,117,306 (GRCm39) |
N913S |
probably benign |
Het |
| N4bp2 |
G |
A |
5: 65,960,915 (GRCm39) |
|
probably null |
Het |
| Nt5c1a |
A |
G |
4: 123,102,284 (GRCm39) |
E70G |
possibly damaging |
Het |
| Or12k5 |
A |
G |
2: 36,894,738 (GRCm39) |
V296A |
probably damaging |
Het |
| Papln |
A |
G |
12: 83,831,180 (GRCm39) |
|
probably benign |
Het |
| Pcnx3 |
G |
T |
19: 5,736,093 (GRCm39) |
S244R |
probably damaging |
Het |
| Pecam1 |
A |
T |
11: 106,573,786 (GRCm39) |
|
probably null |
Het |
| Plppr4 |
A |
T |
3: 117,121,921 (GRCm39) |
L219Q |
probably damaging |
Het |
| Ppp2r5b |
A |
G |
19: 6,280,935 (GRCm39) |
|
probably null |
Het |
| Ralgapb |
A |
G |
2: 158,272,383 (GRCm39) |
R146G |
probably benign |
Het |
| Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
| Rfpl4b |
T |
G |
10: 38,697,530 (GRCm39) |
I24L |
probably benign |
Het |
| Serpinb1b |
G |
A |
13: 33,277,637 (GRCm39) |
C290Y |
probably benign |
Het |
| Skic3 |
A |
G |
13: 76,259,910 (GRCm39) |
E70G |
possibly damaging |
Het |
| Slc25a17 |
A |
G |
15: 81,244,925 (GRCm39) |
S3P |
possibly damaging |
Het |
| Slc4a11 |
A |
C |
2: 130,529,047 (GRCm39) |
|
probably null |
Het |
| Spata31e4 |
T |
C |
13: 50,856,324 (GRCm39) |
L654P |
probably benign |
Het |
| Sptb |
A |
G |
12: 76,630,622 (GRCm39) |
Y2231H |
probably damaging |
Het |
| Srgap1 |
T |
G |
10: 121,706,244 (GRCm39) |
M221L |
probably benign |
Het |
| Srgap3 |
A |
G |
6: 112,716,331 (GRCm39) |
L599P |
probably damaging |
Het |
| Svep1 |
C |
T |
4: 58,107,561 (GRCm39) |
V1177M |
probably benign |
Het |
| Tarbp1 |
A |
G |
8: 127,157,599 (GRCm39) |
F1303L |
possibly damaging |
Het |
| Tbxa2r |
T |
C |
10: 81,170,341 (GRCm39) |
S276P |
possibly damaging |
Het |
| Try10 |
A |
T |
6: 41,334,390 (GRCm39) |
D194V |
probably damaging |
Het |
| Ttc39c |
T |
C |
18: 12,867,936 (GRCm39) |
|
probably benign |
Het |
| Ttc8 |
G |
A |
12: 98,948,780 (GRCm39) |
V489M |
probably benign |
Het |
| Unc13b |
G |
T |
4: 43,263,371 (GRCm39) |
R1912L |
probably damaging |
Het |
| Unc45b |
T |
A |
11: 82,820,206 (GRCm39) |
|
probably null |
Het |
| Usp17lb |
T |
C |
7: 104,490,048 (GRCm39) |
Y292C |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,438,725 (GRCm39) |
D3429G |
probably damaging |
Het |
| Usp42 |
A |
G |
5: 143,703,122 (GRCm39) |
S500P |
probably damaging |
Het |
| Vmn2r14 |
T |
C |
5: 109,367,838 (GRCm39) |
M385V |
probably benign |
Het |
| Vmn2r60 |
G |
A |
7: 41,785,830 (GRCm39) |
W211* |
probably null |
Het |
| Vwf |
A |
T |
6: 125,624,701 (GRCm39) |
|
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,681,918 (GRCm39) |
F3018I |
probably damaging |
Het |
| Wwox |
A |
G |
8: 115,174,973 (GRCm39) |
T102A |
probably benign |
Het |
| Zfp142 |
A |
C |
1: 74,611,047 (GRCm39) |
L813R |
possibly damaging |
Het |
| Zfp407 |
G |
A |
18: 84,372,658 (GRCm39) |
T1670M |
probably damaging |
Het |
| Zfp93 |
A |
G |
7: 23,974,282 (GRCm39) |
E89G |
probably benign |
Het |
| Zwint |
C |
T |
10: 72,492,127 (GRCm39) |
Q18* |
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 |
|
|
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'- GGAAAGGCAGCTTCTCACCTTGAC -3'
(R):5'- AACCCCAGGTTTCAAATGTTCCTCC -3'
Sequencing Primer
(F):5'- CACCTTGACTTTGATGGCATAG -3'
(R):5'- CTCCTGGAGGAAACCTTTTCATTAAC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation