Incidental Mutation 'IGL02160:Il23r'
ID 282417
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 # IGL02160
Quality Score
Status
Chromosome 6
Chromosomal Location 67399916-67468839 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 67400562 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 589 (N589K)
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: N589K

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000113342
Gene: ENSMUSG00000049093
AA Change: N589K

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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 A G 9: 53,503,287 (GRCm39) V184A probably benign Het
Adam19 G A 11: 46,030,522 (GRCm39) C750Y probably damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cabp2 T A 19: 4,134,868 (GRCm39) probably benign Het
Carmil3 T C 14: 55,731,015 (GRCm39) M94T possibly damaging Het
Ccdc107 A G 4: 43,495,736 (GRCm39) D213G probably damaging Het
Cdh23 T C 10: 60,433,544 (GRCm39) probably benign Het
Cfap251 A T 5: 123,394,081 (GRCm39) E323D unknown Het
Cfhr2 T A 1: 139,738,664 (GRCm39) D299V probably benign Het
Clcn7 T C 17: 25,368,004 (GRCm39) probably benign Het
Clspn G A 4: 126,475,303 (GRCm39) E1019K probably benign Het
Ctnna3 A G 10: 64,086,477 (GRCm39) T350A probably benign Het
Dmbt1 G A 7: 130,684,418 (GRCm39) G638E probably damaging Het
Ext2 A T 2: 93,643,929 (GRCm39) D117E probably benign Het
Fem1al A T 11: 29,773,593 (GRCm39) Y621* probably null Het
Ffar4 T A 19: 38,085,903 (GRCm39) V110D possibly damaging Het
Foxred2 G T 15: 77,839,850 (GRCm39) Q147K probably benign Het
Heatr9 T C 11: 83,409,651 (GRCm39) D107G probably benign Het
Hmgxb3 G A 18: 61,304,308 (GRCm39) A94V probably damaging Het
Htr5b A T 1: 121,455,774 (GRCm39) S49T possibly damaging Het
Il1rl1 A T 1: 40,500,997 (GRCm39) M458L probably benign Het
Kbtbd11 G A 8: 15,078,801 (GRCm39) V467M probably damaging Het
Kidins220 T A 12: 25,054,110 (GRCm39) Y537N probably damaging Het
Kif27 T A 13: 58,473,812 (GRCm39) E728D probably damaging Het
Lum T C 10: 97,404,443 (GRCm39) S113P probably damaging Het
Mkln1 A G 6: 31,469,726 (GRCm39) probably benign Het
Mmp17 A G 5: 129,672,633 (GRCm39) D195G possibly damaging Het
Naa38 T A 11: 69,287,194 (GRCm39) probably benign Het
Naalad2 G A 9: 18,291,233 (GRCm39) A191V probably damaging Het
Naip6 A T 13: 100,435,933 (GRCm39) H863Q probably benign Het
Ncoa6 A G 2: 155,263,003 (GRCm39) V477A possibly damaging Het
Nipal3 G T 4: 135,201,728 (GRCm39) Y153* probably null Het
Or10s1 A T 9: 39,986,482 (GRCm39) N297I probably damaging Het
Or13d1 A G 4: 52,971,194 (GRCm39) D191G probably damaging Het
Or4c12 G T 2: 89,774,149 (GRCm39) H103Q probably damaging Het
Or4g16 G A 2: 111,137,143 (GRCm39) V198I probably benign Het
Or9s23 T A 1: 92,501,079 (GRCm39) L62Q probably damaging Het
Pik3c2a G A 7: 115,987,299 (GRCm39) P541S probably damaging Het
Ppargc1b A T 18: 61,443,506 (GRCm39) D552E probably damaging Het
Ppfia3 C A 7: 45,009,475 (GRCm39) probably benign Het
Prcp G A 7: 92,566,969 (GRCm39) S227N probably benign Het
Ptprq T A 10: 107,489,426 (GRCm39) T900S probably benign Het
Ralgapa2 G A 2: 146,190,360 (GRCm39) probably benign Het
Rcsd1 A G 1: 165,485,148 (GRCm39) S102P probably damaging Het
Rfwd3 T A 8: 111,999,707 (GRCm39) N757I possibly damaging Het
Rnf217 A T 10: 31,381,767 (GRCm39) probably null Het
Scn2a A G 2: 65,560,460 (GRCm39) D1230G probably damaging Het
Sdc3 T C 4: 130,545,886 (GRCm39) probably benign Het
Slc27a4 G T 2: 29,695,974 (GRCm39) D170Y probably benign Het
Tcof1 A G 18: 60,981,815 (GRCm39) probably benign Het
Ticam1 T A 17: 56,577,560 (GRCm39) I512F possibly damaging Het
Ticrr T C 7: 79,343,767 (GRCm39) C1211R probably benign Het
Tlr2 A T 3: 83,744,678 (GRCm39) N468K possibly damaging Het
Tmod4 T C 3: 95,036,424 (GRCm39) probably benign Het
Tnxb T C 17: 34,933,719 (GRCm39) S2380P probably benign Het
Top6bl T C 19: 4,713,612 (GRCm39) D276G probably damaging Het
Tox A G 4: 6,711,537 (GRCm39) V309A probably damaging Het
Tpgs2 A G 18: 25,273,637 (GRCm39) F175L possibly damaging Het
Trim43b A G 9: 88,973,683 (GRCm39) S17P probably benign Het
Ttc21a G T 9: 119,785,989 (GRCm39) L662F probably damaging Het
Ubqln1 A T 13: 58,339,951 (GRCm39) N261K probably damaging Het
Umodl1 T C 17: 31,205,091 (GRCm39) V562A probably damaging Het
Unc45b C T 11: 82,831,007 (GRCm39) probably benign Het
Vars1 T A 17: 35,220,478 (GRCm39) I20N probably damaging Het
Vcan T C 13: 89,832,612 (GRCm39) N3092D probably damaging Het
Zc3h6 G T 2: 128,839,605 (GRCm39) E139D probably benign Het
Other mutations in Il23r
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2015-04-16