Incidental Mutation 'R6048:Il17re'
ID 483384
Institutional Source Beutler Lab
Gene Symbol Il17re
Ensembl Gene ENSMUSG00000043088
Gene Name interleukin 17 receptor E
Synonyms Il25r
MMRRC Submission 044216-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6048 (G1)
Quality Score 196.009
Status Validated
Chromosome 6
Chromosomal Location 113435659-113447719 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113447069 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 607 (S607P)
Ref Sequence ENSEMBL: ENSMUSP00000145384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053569] [ENSMUST00000058300] [ENSMUST00000058548] [ENSMUST00000101065] [ENSMUST00000203281] [ENSMUST00000203661] [ENSMUST00000204774]
AlphaFold Q8BH06
Predicted Effect possibly damaging
Transcript: ENSMUST00000053569
AA Change: S426P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000054378
Gene: ENSMUSG00000043088
AA Change: S426P

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: ENSMUST00000058300
SMART Domains Protein: ENSMUSP00000055343
Gene: ENSMUSG00000030281

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:IL17_R_N 71 190 2.8e-45 PFAM
Pfam:IL17_R_N 189 432 1.3e-93 PFAM
transmembrane domain 441 460 N/A INTRINSIC
Pfam:SEFIR 473 623 7.7e-41 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000058548
AA Change: S627P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000062103
Gene: ENSMUSG00000043088
AA Change: S627P

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 possibly damaging
Transcript: ENSMUST00000101065
AA Change: S426P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000098626
Gene: ENSMUSG00000043088
AA Change: S426P

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 possibly damaging
Transcript: ENSMUST00000203661
AA Change: S581P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000145345
Gene: ENSMUSG00000043088
AA Change: S581P

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 possibly damaging
Transcript: ENSMUST00000204774
AA Change: S607P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000145384
Gene: ENSMUSG00000043088
AA Change: S607P

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 probably benign
Transcript: ENSMUST00000204632
Predicted Effect probably benign
Transcript: ENSMUST00000205208
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203897
Predicted Effect probably benign
Transcript: ENSMUST00000204447
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205211
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 98% (60/61)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a2 T C 9: 71,169,049 (GRCm39) I177T probably damaging Het
Aopep T A 13: 63,388,139 (GRCm39) F39L probably damaging Het
Arl4c A G 1: 88,629,350 (GRCm39) S13P possibly damaging Het
Bst1 G T 5: 43,976,306 (GRCm39) probably benign Het
Carmil3 G A 14: 55,741,302 (GRCm39) R1029Q probably benign Het
Cflar A G 1: 58,780,202 (GRCm39) T269A probably benign Het
Clcnka T A 4: 141,121,798 (GRCm39) Y236F probably damaging Het
Clmp T A 9: 40,682,405 (GRCm39) I63N probably damaging Het
Cln6 T C 9: 62,751,908 (GRCm39) L44P probably damaging Het
Col5a3 C T 9: 20,718,915 (GRCm39) A280T unknown Het
Dact2 A G 17: 14,417,567 (GRCm39) L211P probably damaging Het
Dclk2 G T 3: 86,813,272 (GRCm39) Q225K probably damaging Het
Ddx60 T C 8: 62,453,616 (GRCm39) F1245S probably benign Het
Efcab3 A G 11: 104,835,259 (GRCm39) K3540E unknown Het
Eif3i T C 4: 129,487,145 (GRCm39) N240S probably benign Het
Enpp1 T C 10: 24,536,152 (GRCm39) Y416C probably damaging Het
Epb42 T A 2: 120,854,889 (GRCm39) R565S probably benign Het
Eral1 G A 11: 77,966,609 (GRCm39) P217L probably benign Het
Fbxl16 A G 17: 26,035,967 (GRCm39) Y188C probably benign Het
Fgd3 G A 13: 49,427,224 (GRCm39) P503S probably benign Het
Frem3 T C 8: 81,340,062 (GRCm39) L785P probably benign Het
Gadl1 A G 9: 115,835,769 (GRCm39) probably null Het
Gm10787 C T 10: 76,857,676 (GRCm39) noncoding transcript Het
Gm6563 A G 19: 23,653,246 (GRCm39) K12R probably benign Het
Grm5 T C 7: 87,675,758 (GRCm39) L424P probably damaging Het
H2ac11 A G 13: 22,227,006 (GRCm39) V31A probably benign Het
Ints7 A G 1: 191,353,524 (GRCm39) probably benign Het
Itih1 A G 14: 30,651,780 (GRCm39) M854T possibly damaging Het
Kif1b A G 4: 149,348,086 (GRCm39) L315P probably damaging Het
Ms4a6b T C 19: 11,497,734 (GRCm39) V11A possibly damaging Het
Mxd1 C A 6: 86,627,966 (GRCm39) D191Y probably damaging Het
Nol8 T A 13: 49,807,160 (GRCm39) probably null Het
Ntn4 T A 10: 93,543,128 (GRCm39) probably null Het
Nxph1 A T 6: 9,247,103 (GRCm39) T25S probably benign Het
Or1n1 A G 2: 36,749,853 (GRCm39) V169A probably benign Het
Or2bd2 A C 7: 6,443,354 (GRCm39) T152P possibly damaging Het
Or3a1 A T 11: 74,225,961 (GRCm39) I32K probably benign Het
Or51f1d A G 7: 102,700,526 (GRCm39) N7S probably benign Het
Or5ac20 C T 16: 59,104,342 (GRCm39) V173I probably benign Het
Or6c219 A G 10: 129,781,695 (GRCm39) F79L possibly damaging Het
Oxsm T A 14: 16,242,308 (GRCm38) M154L possibly damaging Het
Papolg A C 11: 23,841,815 (GRCm39) I36S probably benign Het
Pde3b T A 7: 114,107,502 (GRCm39) H544Q probably benign Het
Pdzd2 A T 15: 12,592,656 (GRCm39) probably null Het
Prkce C A 17: 86,800,775 (GRCm39) P397Q probably benign Het
Ralgapa2 T C 2: 146,276,765 (GRCm39) S492G possibly damaging Het
Rnf216 A G 5: 143,054,659 (GRCm39) Y630H probably damaging Het
Ruvbl1 C T 6: 88,459,973 (GRCm39) T211I possibly damaging Het
Scyl2 A T 10: 89,481,348 (GRCm39) D666E probably benign Het
Sertad2 A G 11: 20,598,436 (GRCm39) T211A probably benign Het
Sipa1l1 A T 12: 82,487,643 (GRCm39) Q1639L probably benign Het
Snx5 T C 2: 144,101,073 (GRCm39) D98G probably damaging Het
Sorcs2 G T 5: 36,185,332 (GRCm39) probably null Het
Spmip2 T C 3: 79,313,192 (GRCm39) S89P probably damaging Het
Tanc2 G A 11: 105,758,543 (GRCm39) R768Q probably damaging Het
Tmem132d A G 5: 128,346,181 (GRCm39) S114P probably benign Het
Tns2 G A 15: 102,019,846 (GRCm39) G579R probably damaging Het
Usp37 A T 1: 74,517,295 (GRCm39) probably null Het
Vmn1r79 T C 7: 11,910,448 (GRCm39) I110T probably damaging Het
Vps37a C T 8: 40,981,363 (GRCm39) L69F probably damaging Het
Xirp2 T A 2: 67,338,587 (GRCm39) I276N possibly damaging Het
Zfp946 G A 17: 22,673,821 (GRCm39) E192K probably benign 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
IGL01656:Il17re APN 6 113,439,934 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TCTGCGCCAAAGGTGACATC -3'
(R):5'- AAGCCCAAGTTCCTCTCAGG -3'

Sequencing Primer
(F):5'- AAAGGTGACATCCCCCGG -3'
(R):5'- CCTCTCAGGAACTCTAAGAGGG -3'
Posted On 2017-07-14