Incidental Mutation 'IGL01994:Il17re'
ID 183599
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 # IGL01994
Quality Score
Status
Chromosome 6
Chromosomal Location 113435659-113447719 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113445411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 374 (V374A)
Ref Sequence ENSEMBL: ENSMUSP00000145384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053569] [ENSMUST00000058300] [ENSMUST00000058548] [ENSMUST00000101065] [ENSMUST00000203281] [ENSMUST00000203661] [ENSMUST00000204774]
AlphaFold Q8BH06
Predicted Effect probably benign
Transcript: ENSMUST00000053569
AA Change: V173A

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000054378
Gene: ENSMUSG00000043088
AA Change: V173A

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 probably benign
Transcript: ENSMUST00000058548
AA Change: V374A

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000062103
Gene: ENSMUSG00000043088
AA Change: V374A

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
AA Change: V173A

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000098626
Gene: ENSMUSG00000043088
AA Change: V173A

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
AA Change: V374A

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000145345
Gene: ENSMUSG00000043088
AA Change: V374A

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 probably benign
Transcript: ENSMUST00000204774
AA Change: V374A

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000145384
Gene: ENSMUSG00000043088
AA Change: V374A

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: ENSMUST00000203897
Predicted Effect probably benign
Transcript: ENSMUST00000204447
Predicted Effect probably benign
Transcript: ENSMUST00000205208
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 A T 13: 12,305,563 (GRCm39) Y418N probably benign Het
Adam15 T C 3: 89,248,812 (GRCm39) probably benign Het
Adam32 C A 8: 25,392,812 (GRCm39) probably benign Het
Adamts12 T A 15: 11,345,680 (GRCm39) C1574S probably damaging Het
Adck1 T C 12: 88,397,926 (GRCm39) S187P possibly damaging Het
Atp13a3 A G 16: 30,156,336 (GRCm39) V949A possibly damaging Het
Atxn3 T C 12: 101,908,439 (GRCm39) T138A probably benign Het
Atxn7l2 C T 3: 108,110,859 (GRCm39) R559Q probably damaging Het
Bicra G T 7: 15,706,741 (GRCm39) S1233R possibly damaging Het
Cacybp G T 1: 160,034,206 (GRCm39) N101K probably damaging Het
Cops7b T C 1: 86,528,828 (GRCm39) L185P probably damaging Het
Cttnbp2 T C 6: 18,420,814 (GRCm39) D899G possibly damaging Het
Cyp4f37 C T 17: 32,844,150 (GRCm39) R85* probably null Het
Dnah3 T G 7: 119,550,437 (GRCm39) N3294T possibly damaging Het
Elmo1 T A 13: 20,526,634 (GRCm39) Y395N probably damaging Het
Fam234b T A 6: 135,202,203 (GRCm39) Y308* probably null Het
Fam43a A G 16: 30,419,481 (GRCm39) K22E probably damaging Het
Fcer2a T C 8: 3,738,302 (GRCm39) N123D possibly damaging Het
Gm11595 A G 11: 99,663,027 (GRCm39) C218R unknown Het
Gria4 T C 9: 4,537,726 (GRCm39) Y194C probably damaging Het
Grin2d T C 7: 45,507,396 (GRCm39) E435G probably damaging Het
Hectd1 T C 12: 51,844,725 (GRCm39) E506G probably damaging Het
Htt G A 5: 34,989,948 (GRCm39) S1160N possibly damaging Het
Ift140 A G 17: 25,267,417 (GRCm39) E605G probably damaging Het
Ippk A G 13: 49,612,093 (GRCm39) Q439R possibly damaging Het
Itgam G A 7: 127,700,899 (GRCm39) V530M probably damaging Het
Kirrel3 A G 9: 34,931,429 (GRCm39) H47R possibly damaging Het
Klk1b24 A T 7: 43,841,057 (GRCm39) I162F probably damaging Het
Lama1 A T 17: 68,059,434 (GRCm39) T606S probably benign Het
Lama2 C T 10: 27,343,199 (GRCm39) probably null Het
Lrp2 A G 2: 69,313,945 (GRCm39) I2262T probably benign Het
Mamdc4 A T 2: 25,458,546 (GRCm39) I317N possibly damaging Het
Mtmr3 G T 11: 4,437,938 (GRCm39) H839N probably benign Het
Ncr1 G T 7: 4,344,253 (GRCm39) V177F probably benign Het
Nop58 T C 1: 59,743,242 (GRCm39) S219P probably damaging Het
Nrg3 T C 14: 38,734,043 (GRCm39) Y281C probably damaging Het
Nsf A G 11: 103,819,608 (GRCm39) S54P probably damaging Het
Or56b6 A T 7: 104,925,153 (GRCm39) noncoding transcript Het
Or6k8-ps1 T A 1: 173,979,102 (GRCm39) S7T probably benign Het
Plxnc1 T C 10: 94,685,801 (GRCm39) K730R probably damaging Het
Polr2g A T 19: 8,771,740 (GRCm39) probably benign Het
Rps13 A G 7: 115,932,925 (GRCm39) probably benign Het
Scgb2b7 A G 7: 31,403,409 (GRCm39) I99T probably benign Het
Slc22a27 G T 19: 7,887,108 (GRCm39) H260Q possibly damaging Het
Spata18 G T 5: 73,814,944 (GRCm39) probably null Het
Tns2 A G 15: 102,019,814 (GRCm39) E560G possibly damaging Het
Trbv16 T C 6: 41,128,715 (GRCm39) probably benign Het
Ubr3 T A 2: 69,851,520 (GRCm39) I1829N probably damaging Het
Vcl C T 14: 21,053,311 (GRCm39) T442I probably damaging Het
Vmn2r102 T A 17: 19,880,731 (GRCm39) I24N probably benign Het
Vmn2r114 T C 17: 23,529,451 (GRCm39) D217G probably damaging Het
Vmn2r58 A G 7: 41,486,394 (GRCm39) Y834H probably damaging Het
Zdhhc8 G T 16: 18,045,636 (GRCm39) 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
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 2014-05-07