Incidental Mutation 'IGL00886:Il23r'
ID 27572
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il23r
Ensembl Gene ENSMUSG00000049093
Gene Name interleukin 23 receptor
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00886
Quality Score
Status
Chromosome 6
Chromosomal Location 67399916-67468839 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 67450874 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 202 (Q202K)
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: Q202K

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113342
Gene: ENSMUSG00000049093
AA Change: Q202K

DomainStartEndE-ValueType
FN3 140 220 1e-1 SMART
Blast:FN3 235 317 2e-38 BLAST
transmembrane domain 388 410 N/A INTRINSIC
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 C T 11: 110,054,101 (GRCm39) R67H possibly damaging Het
Ak4 G T 4: 101,304,386 (GRCm39) E59* probably null Het
Ano10 T C 9: 122,100,390 (GRCm39) N116S probably benign Het
Arid1b T A 17: 5,177,254 (GRCm39) H658Q probably damaging Het
Atf2 G A 2: 73,675,847 (GRCm39) T208I possibly damaging Het
Bco1 T C 8: 117,857,376 (GRCm39) W448R probably damaging Het
Cel A T 2: 28,449,397 (GRCm39) C277S probably damaging Het
Chd5 T A 4: 152,444,156 (GRCm39) D296E probably benign Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Fmo9 T C 1: 166,507,714 (GRCm39) probably null Het
Gdpgp1 T G 7: 79,889,100 (GRCm39) L377R probably damaging Het
Gm26938 T A 5: 139,812,091 (GRCm39) D3V probably damaging Het
Gpld1 T A 13: 25,146,336 (GRCm39) Y193* probably null Het
Gtf2h4 T C 17: 35,980,874 (GRCm39) H265R probably damaging Het
Hadh G T 3: 131,043,465 (GRCm39) T83K probably benign Het
Hao1 T C 2: 134,365,079 (GRCm39) M183V probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ift88 T C 14: 57,715,525 (GRCm39) Y523H probably damaging Het
Iyd T C 10: 3,540,444 (GRCm38) D50A probably benign Het
Katnal2 A T 18: 77,090,450 (GRCm39) L248Q probably damaging Het
Krtap26-1 A T 16: 88,444,267 (GRCm39) V118E possibly damaging Het
Lzic T C 4: 149,577,753 (GRCm39) probably null Het
Meak7 T C 8: 120,500,007 (GRCm39) probably benign Het
Mical2 T A 7: 111,914,279 (GRCm39) N316K probably benign Het
Ndufc2 T A 7: 97,049,397 (GRCm39) M1K probably null Het
Net1 A G 13: 3,943,391 (GRCm39) probably benign Het
Or13g1 G A 7: 85,956,259 (GRCm39) L21F probably damaging Het
Pde1c A G 6: 56,150,659 (GRCm39) Y287H probably damaging Het
Pitpnm1 T C 19: 4,160,665 (GRCm39) probably null Het
Pla2r1 T A 2: 60,254,668 (GRCm39) E1300V probably damaging Het
Polr3g T C 13: 81,842,796 (GRCm39) Y73C probably damaging Het
Ryr1 T A 7: 28,723,654 (GRCm39) E4137V probably damaging Het
Scrib T C 15: 75,920,643 (GRCm39) D1425G possibly damaging Het
Slc25a12 A G 2: 71,174,376 (GRCm39) Y23H possibly damaging Het
Spef2 C A 15: 9,663,181 (GRCm39) G867W probably damaging Het
Strn3 A T 12: 51,656,933 (GRCm39) Y698N probably damaging Het
Ube3a T A 7: 58,934,485 (GRCm39) F533I probably damaging Het
Other mutations in Il23r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00668:Il23r APN 6 67,400,612 (GRCm39) missense probably damaging 0.96
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
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
Posted On 2013-04-17