Incidental Mutation 'R8784:Il23r'
| ID |
670478 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il23r
|
| Ensembl Gene |
ENSMUSG00000049093 |
| Gene Name |
interleukin 23 receptor |
| Synonyms |
|
| MMRRC Submission |
068606-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8784 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
67399916-67468839 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 67443401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 234
(I234T)
|
| 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: I234T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113342
Gene: ENSMUSG00000049093
AA Change: I234T
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (87/87) |
| 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: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
A |
T |
7: 45,652,025 (GRCm39) |
M614K |
probably benign |
Het |
| Adamts7 |
G |
T |
9: 90,075,918 (GRCm39) |
V1217L |
probably null |
Het |
| Adcyap1r1 |
T |
A |
6: 55,458,100 (GRCm39) |
N300K |
probably damaging |
Het |
| Atf7ip |
A |
G |
6: 136,576,648 (GRCm39) |
D1017G |
probably damaging |
Het |
| Atg2b |
A |
C |
12: 105,605,500 (GRCm39) |
D1488E |
probably damaging |
Het |
| Atxn2 |
A |
G |
5: 121,933,091 (GRCm39) |
T805A |
probably benign |
Het |
| Azi2 |
A |
T |
9: 117,884,960 (GRCm39) |
H223L |
probably benign |
Het |
| Banp |
T |
A |
8: 122,727,852 (GRCm39) |
S349T |
probably damaging |
Het |
| Bicra |
A |
T |
7: 15,705,875 (GRCm39) |
I1522N |
probably damaging |
Het |
| Brca2 |
A |
T |
5: 150,472,126 (GRCm39) |
R2342* |
probably null |
Het |
| C6 |
T |
C |
15: 4,822,622 (GRCm39) |
C623R |
probably damaging |
Het |
| Cc2d2a |
T |
C |
5: 43,860,645 (GRCm39) |
Y574H |
possibly damaging |
Het |
| Cdk5rap3 |
C |
T |
11: 96,803,212 (GRCm39) |
C115Y |
probably benign |
Het |
| Chrm4 |
T |
A |
2: 91,758,033 (GRCm39) |
M147K |
probably benign |
Het |
| Cit |
A |
T |
5: 115,984,442 (GRCm39) |
K5* |
probably null |
Het |
| Ciz1 |
T |
A |
2: 32,260,262 (GRCm39) |
S231T |
probably benign |
Het |
| Crebrf |
A |
G |
17: 26,961,520 (GRCm39) |
I206V |
probably benign |
Het |
| Cyc1 |
T |
C |
15: 76,227,863 (GRCm39) |
S34P |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,388,097 (GRCm39) |
I3185M |
probably benign |
Het |
| Dtnbp1 |
T |
C |
13: 45,075,702 (GRCm39) |
D347G |
unknown |
Het |
| Dzip3 |
A |
T |
16: 48,751,628 (GRCm39) |
V767E |
probably damaging |
Het |
| Gdf3 |
A |
T |
6: 122,583,279 (GRCm39) |
C363S |
probably damaging |
Het |
| Glb1l |
T |
C |
1: 75,176,975 (GRCm39) |
K487R |
probably damaging |
Het |
| Gm9747 |
T |
C |
1: 82,212,002 (GRCm39) |
V67A |
unknown |
Het |
| Hoxb2 |
A |
G |
11: 96,242,736 (GRCm39) |
T34A |
possibly damaging |
Het |
| Ifnk |
C |
T |
4: 35,152,383 (GRCm39) |
R104C |
probably damaging |
Het |
| Igfbp1 |
A |
T |
11: 7,151,952 (GRCm39) |
I252F |
probably damaging |
Het |
| Ighv1-74 |
T |
C |
12: 115,766,480 (GRCm39) |
T47A |
probably benign |
Het |
| Igkv4-62 |
A |
T |
6: 69,376,946 (GRCm39) |
W68R |
probably damaging |
Het |
| Ints2 |
T |
A |
11: 86,112,963 (GRCm39) |
I852F |
probably damaging |
Het |
| Ints2 |
G |
A |
11: 86,115,941 (GRCm39) |
Q763* |
probably null |
Het |
| Jhy |
T |
G |
9: 40,872,182 (GRCm39) |
H109P |
probably benign |
Het |
| Katna1 |
T |
A |
10: 7,614,579 (GRCm39) |
V29D |
possibly damaging |
Het |
| Kcng4 |
T |
A |
8: 120,352,970 (GRCm39) |
E313D |
probably benign |
Het |
| Klf14 |
T |
A |
6: 30,935,049 (GRCm39) |
H195L |
probably damaging |
Het |
| Lama3 |
A |
G |
18: 12,554,212 (GRCm39) |
N472S |
probably benign |
Het |
| Layn |
A |
T |
9: 50,970,781 (GRCm39) |
V254E |
possibly damaging |
Het |
| Lrba |
A |
T |
3: 86,283,235 (GRCm39) |
S1850C |
probably damaging |
Het |
| Map1s |
A |
G |
8: 71,358,909 (GRCm39) |
I2V |
unknown |
Het |
| Map3k12 |
T |
A |
15: 102,413,797 (GRCm39) |
Q58L |
possibly damaging |
Het |
| Minpp1 |
T |
C |
19: 32,491,396 (GRCm39) |
V358A |
probably benign |
Het |
| Mymk |
C |
G |
2: 26,961,947 (GRCm39) |
K27N |
possibly damaging |
Het |
| Nek8 |
T |
C |
11: 78,063,375 (GRCm39) |
K130E |
probably damaging |
Het |
| Ngef |
T |
A |
1: 87,405,293 (GRCm39) |
S706C |
probably damaging |
Het |
| Nsun6 |
G |
A |
2: 15,001,306 (GRCm39) |
Q417* |
probably null |
Het |
| Ntsr2 |
G |
T |
12: 16,706,852 (GRCm39) |
Q293H |
probably damaging |
Het |
| Ocln |
T |
A |
13: 100,676,050 (GRCm39) |
I148F |
probably damaging |
Het |
| Or12d12 |
A |
G |
17: 37,610,701 (GRCm39) |
I204T |
probably benign |
Het |
| Or4p19 |
A |
T |
2: 88,242,091 (GRCm39) |
Y304N |
probably benign |
Het |
| Or8g30 |
T |
A |
9: 39,229,989 (GRCm39) |
Q307L |
probably benign |
Het |
| Pank3 |
T |
G |
11: 35,672,412 (GRCm39) |
F272V |
probably damaging |
Het |
| Piezo1 |
A |
T |
8: 123,223,328 (GRCm39) |
|
probably benign |
Het |
| Plppr4 |
G |
A |
3: 117,116,190 (GRCm39) |
R556* |
probably null |
Het |
| Polr1a |
G |
T |
6: 71,927,612 (GRCm39) |
R821L |
probably benign |
Het |
| Ppp1r36 |
C |
T |
12: 76,485,967 (GRCm39) |
T375I |
probably benign |
Het |
| Ptprj |
T |
A |
2: 90,290,856 (GRCm39) |
I628F |
possibly damaging |
Het |
| Puf60 |
C |
A |
15: 75,949,525 (GRCm39) |
V29F |
unknown |
Het |
| R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
| Rassf1 |
A |
G |
9: 107,435,041 (GRCm39) |
S179G |
probably benign |
Het |
| Rbm6 |
A |
G |
9: 107,665,337 (GRCm39) |
S772P |
possibly damaging |
Het |
| Rnf103 |
T |
G |
6: 71,486,982 (GRCm39) |
S538A |
probably benign |
Het |
| Scoc |
C |
A |
8: 84,164,245 (GRCm39) |
V58L |
probably benign |
Het |
| Secisbp2l |
G |
A |
2: 125,602,263 (GRCm39) |
Q366* |
probably null |
Het |
| Slc16a14 |
T |
C |
1: 84,890,784 (GRCm39) |
T174A |
probably benign |
Het |
| Slc25a22 |
A |
C |
7: 141,011,020 (GRCm39) |
*324G |
probably null |
Het |
| Smarca2 |
C |
T |
19: 26,753,558 (GRCm39) |
T197I |
probably benign |
Het |
| Speg |
T |
C |
1: 75,381,793 (GRCm39) |
|
probably benign |
Het |
| Srgap2 |
T |
A |
1: 131,223,212 (GRCm39) |
N858I |
unknown |
Het |
| Syna |
C |
T |
5: 134,588,723 (GRCm39) |
M75I |
probably benign |
Het |
| Tbc1d22b |
T |
C |
17: 29,818,918 (GRCm39) |
I424T |
probably damaging |
Het |
| Tcaf1 |
T |
G |
6: 42,656,221 (GRCm39) |
T252P |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,943,613 (GRCm39) |
D77G |
probably damaging |
Het |
| Tlcd3a |
T |
C |
11: 76,098,941 (GRCm39) |
F237S |
probably damaging |
Het |
| Trim21 |
T |
C |
7: 102,208,675 (GRCm39) |
E348G |
probably benign |
Het |
| Trpm3 |
A |
G |
19: 22,896,040 (GRCm39) |
D959G |
probably benign |
Het |
| Ttc24 |
A |
T |
3: 87,980,033 (GRCm39) |
C182* |
probably null |
Het |
| Tti1 |
T |
C |
2: 157,850,514 (GRCm39) |
T242A |
probably benign |
Het |
| Ube2q2l |
G |
A |
6: 136,378,729 (GRCm39) |
Q34* |
probably null |
Het |
| Ube3b |
G |
T |
5: 114,526,800 (GRCm39) |
C100F |
probably damaging |
Het |
| Vmn1r26 |
T |
A |
6: 57,985,440 (GRCm39) |
T250S |
possibly damaging |
Het |
| Vnn1 |
A |
G |
10: 23,780,526 (GRCm39) |
T505A |
probably benign |
Het |
| Vps13a |
C |
A |
19: 16,642,153 (GRCm39) |
W2158L |
probably damaging |
Het |
| Vwa1 |
A |
T |
4: 155,857,345 (GRCm39) |
V151E |
probably damaging |
Het |
| Zfp14 |
A |
G |
7: 29,742,961 (GRCm39) |
S46P |
probably damaging |
Het |
| Zfp773 |
C |
A |
7: 7,135,570 (GRCm39) |
C342F |
probably benign |
Het |
| Zscan12 |
T |
A |
13: 21,547,991 (GRCm39) |
S58T |
possibly 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 |
|
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 |
|
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'- GACTGGCTTTTCTGTAAACCACAC -3'
(R):5'- ATAGGCTCAAGTTTCACTAGACC -3'
Sequencing Primer
(F):5'- CTTTTCTGTAAACCACACACATATGC -3'
(R):5'- GGCTCAAGTTTCACTAGACCTATAAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation