Incidental Mutation 'IGL01102:Il23r'
ID 51315
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 # IGL01102
Quality Score
Status
Chromosome 6
Chromosomal Location 67399916-67468839 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 67400909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 474 (I474F)
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: I474F

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113342
Gene: ENSMUSG00000049093
AA Change: I474F

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 C T 2: 25,323,968 (GRCm39) probably benign Het
Bloc1s2-ps C T 2: 52,509,914 (GRCm39) A50V probably benign Het
Bltp3b T C 10: 89,627,240 (GRCm39) L435P probably benign Het
Col4a3 A G 1: 82,647,441 (GRCm39) D455G unknown Het
Col4a3 A G 1: 82,647,976 (GRCm39) I496V unknown Het
Coro1c A T 5: 113,987,675 (GRCm39) M222K probably benign Het
Dnah5 T A 15: 28,410,149 (GRCm39) probably null Het
Emc4 C A 2: 112,197,871 (GRCm39) probably benign Het
Fcer2a T C 8: 3,738,842 (GRCm39) D32G possibly damaging Het
Fhip1a A G 3: 85,572,808 (GRCm39) probably benign Het
Garnl3 T C 2: 32,896,828 (GRCm39) K559E probably damaging Het
Gckr T C 5: 31,466,381 (GRCm39) L452P probably damaging Het
Gm4841 A G 18: 60,403,124 (GRCm39) V323A probably damaging Het
Gm6902 T A 7: 22,973,087 (GRCm39) I147L probably benign Het
Gpr75 T C 11: 30,841,755 (GRCm39) V220A probably benign Het
Hdac6 A G X: 7,813,237 (GRCm39) S42P probably benign Het
Hdhd2 A G 18: 77,044,607 (GRCm39) N128S probably damaging Het
Hsd3b2 G T 3: 98,618,995 (GRCm39) R317S probably damaging Het
Itga5 T C 15: 103,255,102 (GRCm39) Y954C probably benign Het
Itgam T C 7: 127,679,445 (GRCm39) F196L possibly damaging Het
Mapkbp1 T C 2: 119,852,339 (GRCm39) V957A possibly damaging Het
Mblac2 T C 13: 81,898,125 (GRCm39) M167T probably damaging Het
Mterf4 C T 1: 93,232,812 (GRCm39) R13H possibly damaging Het
Npffr1 T G 10: 61,449,987 (GRCm39) V87G probably damaging Het
Or5h18 G A 16: 58,848,192 (GRCm39) P26L probably benign Het
Or6c76b A G 10: 129,692,497 (GRCm39) I37V probably benign Het
Phldb2 A G 16: 45,645,423 (GRCm39) L386P probably damaging Het
Ppp1r13b A G 12: 111,799,653 (GRCm39) I708T probably benign Het
Pramel31 A G 4: 144,090,195 (GRCm39) I412V probably benign Het
Ramp2 T A 11: 101,138,453 (GRCm39) Y85N probably benign Het
Rnf217 A G 10: 31,484,499 (GRCm39) Y228H probably damaging Het
Rock1 T G 18: 10,080,502 (GRCm39) D1014A probably benign Het
Scyl3 T A 1: 163,762,338 (GRCm39) C101* probably null Het
Sema6b G T 17: 56,439,761 (GRCm39) L27I possibly damaging Het
Slc10a5 A G 3: 10,400,369 (GRCm39) V97A probably benign Het
Strc C A 2: 121,195,541 (GRCm39) R1636L probably benign Het
Tm9sf1 T A 14: 55,880,224 (GRCm39) T58S probably damaging Het
Tmem106c T C 15: 97,864,825 (GRCm39) Y85H probably damaging Het
Vmn2r9 A G 5: 108,990,811 (GRCm39) probably null Het
Vps13a A G 19: 16,628,781 (GRCm39) probably null Het
Zfp976 A T 7: 42,263,333 (GRCm39) L168* probably null 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
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 2013-06-21