Incidental Mutation 'IGL01656:Il17re'
ID 103034
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il17re
Ensembl Gene ENSMUSG00000043088
Gene Name interleukin 17 receptor E
Synonyms Il25r
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01656
Quality Score
Status
Chromosome 6
Chromosomal Location 113435659-113447719 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 113439934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053569] [ENSMUST00000058548] [ENSMUST00000101065] [ENSMUST00000203281] [ENSMUST00000203661] [ENSMUST00000204774]
AlphaFold Q8BH06
Predicted Effect probably benign
Transcript: ENSMUST00000053569
SMART Domains Protein: ENSMUSP00000054378
Gene: ENSMUSG00000043088

DomainStartEndE-ValueType
Pfam:IL17_R_N 1 207 8.2e-109 PFAM
transmembrane domain 214 236 N/A INTRINSIC
Pfam:SEFIR 247 384 8.5e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000058548
SMART Domains Protein: ENSMUSP00000062103
Gene: ENSMUSG00000043088

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:IL17_R_N 26 408 6.2e-121 PFAM
transmembrane domain 415 437 N/A INTRINSIC
Pfam:SEFIR 448 585 1.3e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101065
SMART Domains Protein: ENSMUSP00000098626
Gene: ENSMUSG00000043088

DomainStartEndE-ValueType
Pfam:IL17_R_N 1 207 8.2e-109 PFAM
transmembrane domain 214 236 N/A INTRINSIC
Pfam:SEFIR 247 384 8.5e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203281
SMART Domains Protein: ENSMUSP00000145363
Gene: ENSMUSG00000043088

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203661
SMART Domains Protein: ENSMUSP00000145345
Gene: ENSMUSG00000043088

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:IL17_R_N 26 408 5.6e-121 PFAM
Pfam:SEFIR 403 539 1.6e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203897
Predicted Effect probably benign
Transcript: ENSMUST00000204774
SMART Domains Protein: ENSMUSP00000145384
Gene: ENSMUSG00000043088

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:IL17_R_N 26 408 5.6e-121 PFAM
low complexity region 417 426 N/A INTRINSIC
Pfam:SEFIR 428 565 1.2e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205211
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204523
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that functions as the receptor for interleukin-17C. The encoded protein signals to downstream components of the mitogen activated protein kinase (MAPK) pathway. Activity of this protein is important in the immune response to bacterial pathogens. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2013]
PHENOTYPE: Homozygous mice exhibit increased susceptibility to DSS-induced colitis, imiquimod-induced psoriasis, and C. rodentium bacterial infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acrbp A C 6: 125,030,675 (GRCm39) E232A possibly damaging Het
Anapc11 T A 11: 120,490,173 (GRCm39) F30I possibly damaging Het
Ap5z1 A G 5: 142,456,069 (GRCm39) D318G probably benign Het
Cfap43 T C 19: 47,740,339 (GRCm39) E1278G possibly damaging Het
Cylc1 A G X: 110,167,485 (GRCm39) T589A probably benign Het
Dcaf15 T C 8: 84,824,617 (GRCm39) I527V probably benign Het
Ddhd2 C T 8: 26,217,739 (GRCm39) V713I probably benign Het
Edc4 T C 8: 106,613,009 (GRCm39) V283A possibly damaging Het
Elf5 A G 2: 103,273,206 (GRCm39) probably benign Het
Flnb C T 14: 7,902,010 (GRCm38) probably benign Het
Flnc C T 6: 29,443,507 (GRCm39) probably benign Het
Fstl4 T C 11: 52,891,201 (GRCm39) L113P probably damaging Het
Gemin4 C T 11: 76,104,636 (GRCm39) V42M probably damaging Het
Gm10076 A G 14: 105,919,354 (GRCm39) noncoding transcript Het
Grina A G 15: 76,132,501 (GRCm39) Y116C probably damaging Het
Hectd4 T A 5: 121,460,763 (GRCm39) L914H probably damaging Het
Ivl G A 3: 92,478,962 (GRCm39) Q368* probably null Het
Kbtbd8 A G 6: 95,095,657 (GRCm39) H73R probably benign Het
Krt90 T A 15: 101,463,878 (GRCm39) Q392L probably damaging Het
Magea3 A T X: 153,732,137 (GRCm39) M122K probably damaging Het
Mapk8ip3 T C 17: 25,137,003 (GRCm39) D237G probably damaging Het
Nln T C 13: 104,198,249 (GRCm39) probably null Het
Nlrp4d T C 7: 10,098,074 (GRCm39) Y853C noncoding transcript Het
Nol11 T C 11: 107,079,998 (GRCm39) D29G probably benign Het
Nr3c2 C T 8: 77,914,166 (GRCm39) L791F probably damaging Het
Nup50l A G 6: 96,142,675 (GRCm39) V123A possibly damaging Het
Olfm3 T C 3: 114,916,282 (GRCm39) Y385H probably damaging Het
Or14j5 C T 17: 38,162,029 (GRCm39) P182L possibly damaging Het
Or51a8 A G 7: 102,550,472 (GRCm39) I299M possibly damaging Het
Or5b119 G A 19: 13,457,454 (GRCm39) A36V probably benign Het
Pklr G T 3: 89,052,302 (GRCm39) G505C probably damaging Het
Plxna2 A G 1: 194,472,469 (GRCm39) E1071G possibly damaging Het
Prkcq G T 2: 11,231,766 (GRCm39) A30S probably damaging Het
Rilpl1 A G 5: 124,641,712 (GRCm39) F104L probably damaging Het
Rsph6a C T 7: 18,788,770 (GRCm39) T34I probably benign Het
Sec23ip C T 7: 128,351,969 (GRCm39) P12L probably damaging Het
Slc25a21 A C 12: 56,785,280 (GRCm39) V199G probably damaging Het
Smc1b T C 15: 84,998,977 (GRCm39) E483G probably damaging Het
Sucnr1 T C 3: 59,993,832 (GRCm39) M120T possibly damaging Het
Tas2r116 T C 6: 132,832,396 (GRCm39) probably benign Het
Tbrg4 T A 11: 6,568,522 (GRCm39) Q419L possibly damaging Het
Tc2n A G 12: 101,615,348 (GRCm39) probably benign Het
Tgfbr2 A C 9: 115,938,737 (GRCm39) S388R probably damaging Het
Vmn2r1 A G 3: 63,989,274 (GRCm39) E71G probably damaging Het
Xpc A T 6: 91,482,449 (GRCm39) I176K probably damaging Het
Xylt1 G T 7: 117,148,228 (GRCm39) R264L probably damaging Het
Other mutations in Il17re
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00580:Il17re APN 6 113,446,560 (GRCm39) missense probably damaging 0.99
IGL01568:Il17re APN 6 113,447,013 (GRCm39) missense probably damaging 1.00
IGL01994:Il17re APN 6 113,445,411 (GRCm39) missense probably benign 0.13
IGL02261:Il17re APN 6 113,445,472 (GRCm39) unclassified probably benign
IGL02699:Il17re APN 6 113,445,880 (GRCm39) missense probably damaging 1.00
PIT4382001:Il17re UTSW 6 113,446,038 (GRCm39) missense probably benign 0.00
R0195:Il17re UTSW 6 113,443,098 (GRCm39) missense probably damaging 1.00
R1901:Il17re UTSW 6 113,446,665 (GRCm39) missense probably damaging 0.98
R2232:Il17re UTSW 6 113,441,761 (GRCm39) missense probably damaging 1.00
R2357:Il17re UTSW 6 113,445,431 (GRCm39) missense possibly damaging 0.55
R2393:Il17re UTSW 6 113,439,314 (GRCm39) missense possibly damaging 0.91
R2916:Il17re UTSW 6 113,442,989 (GRCm39) critical splice donor site probably null
R4820:Il17re UTSW 6 113,442,816 (GRCm39) missense probably benign 0.08
R4951:Il17re UTSW 6 113,445,868 (GRCm39) missense probably damaging 1.00
R4974:Il17re UTSW 6 113,446,530 (GRCm39) missense probably benign 0.14
R5070:Il17re UTSW 6 113,435,971 (GRCm39) missense probably damaging 0.97
R5166:Il17re UTSW 6 113,439,923 (GRCm39) missense probably benign 0.00
R5404:Il17re UTSW 6 113,446,063 (GRCm39) missense probably benign 0.00
R5810:Il17re UTSW 6 113,446,557 (GRCm39) missense probably damaging 1.00
R5916:Il17re UTSW 6 113,447,084 (GRCm39) missense probably damaging 1.00
R6048:Il17re UTSW 6 113,447,069 (GRCm39) missense possibly damaging 0.95
R7432:Il17re UTSW 6 113,439,332 (GRCm39) missense probably benign 0.07
R7548:Il17re UTSW 6 113,443,348 (GRCm39) missense probably damaging 1.00
R7658:Il17re UTSW 6 113,435,943 (GRCm39) missense probably benign 0.23
R7716:Il17re UTSW 6 113,439,930 (GRCm39) critical splice donor site probably null
R7942:Il17re UTSW 6 113,443,111 (GRCm39) missense probably damaging 0.99
R8051:Il17re UTSW 6 113,436,328 (GRCm39) missense probably benign 0.01
R8090:Il17re UTSW 6 113,439,250 (GRCm39) nonsense probably null
R8302:Il17re UTSW 6 113,443,280 (GRCm39) nonsense probably null
R9299:Il17re UTSW 6 113,440,971 (GRCm39) missense probably benign 0.00
Z1177:Il17re UTSW 6 113,441,753 (GRCm39) missense possibly damaging 0.47
Posted On 2014-01-21