Incidental Mutation 'R6137:Il17ra'
ID 488396
Institutional Source Beutler Lab
Gene Symbol Il17ra
Ensembl Gene ENSMUSG00000002897
Gene Name interleukin 17 receptor A
Synonyms VDw217, Il17r
MMRRC Submission 044284-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R6137 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 120463247-120487559 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120475582 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 242 (N242S)
Ref Sequence ENSEMBL: ENSMUSP00000002976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002976]
AlphaFold Q60943
Predicted Effect probably benign
Transcript: ENSMUST00000002976
AA Change: N242S

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000002976
Gene: ENSMUSG00000002897
AA Change: N242S

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:IL17R_fnIII_D1 48 198 1.3e-70 PFAM
Pfam:IL17R_fnIII_D2 199 303 9.6e-53 PFAM
transmembrane domain 321 343 N/A INTRINSIC
Pfam:SEFIR 380 539 1.5e-51 PFAM
low complexity region 747 765 N/A INTRINSIC
low complexity region 801 830 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204078
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204239
Meta Mutation Damage Score 0.1112 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 98% (58/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit delayed neutrophil recruitment and enhanced susceptibility to intranasal infection by Klibsiella pneumoniae. Mice homozygous for a different knock-out allele exhibit delayed and milder IMQ-induced psoriasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik G T 7: 131,357,613 (GRCm38) H165Q probably damaging Het
Akap13 T A 7: 75,677,416 (GRCm38) F721Y probably damaging Het
Akap6 A T 12: 53,140,354 (GRCm38) D1517V probably damaging Het
Amigo3 T A 9: 108,053,728 (GRCm38) S117T probably damaging Het
Atf7ip2 T A 16: 10,201,411 (GRCm38) N34K probably damaging Het
Cacnb1 A C 11: 98,005,782 (GRCm38) V351G probably damaging Het
Casp9 T A 4: 141,805,349 (GRCm38) probably null Het
Ccdc51 C T 9: 109,089,415 (GRCm38) T24I probably benign Het
Cdh23 T A 10: 60,434,512 (GRCm38) Y618F probably damaging Het
Chd1 T A 17: 15,758,688 (GRCm38) W1271R probably damaging Het
Dars1 T C 1: 128,368,439 (GRCm38) T386A probably benign Het
Dchs1 T A 7: 105,765,106 (GRCm38) D834V probably damaging Het
Dgkd T A 1: 87,936,381 (GRCm38) V933E possibly damaging Het
Dnah17 A G 11: 118,025,654 (GRCm38) F4203S probably damaging Het
Fancm T C 12: 65,130,382 (GRCm38) L2000P probably damaging Het
Fbxo11 A T 17: 88,008,669 (GRCm38) H444Q probably benign Het
Fbxw14 T A 9: 109,276,222 (GRCm38) T292S probably damaging Het
Fer1l6 T C 15: 58,559,206 (GRCm38) S237P probably damaging Het
Frem3 T C 8: 80,615,047 (GRCm38) I1323T probably benign Het
Grin2a A G 16: 9,653,449 (GRCm38) F652L probably benign Het
Grin2b T A 6: 135,923,458 (GRCm38) M142L possibly damaging Het
Helz A G 11: 107,619,060 (GRCm38) Q503R possibly damaging Het
Ighv5-17 A G 12: 113,859,295 (GRCm38) Y69H probably benign Het
Immp1l G C 2: 105,964,208 (GRCm38) G117A probably damaging Het
Itm2c T C 1: 85,894,692 (GRCm38) V10A probably benign Het
Kif1b T C 4: 149,238,426 (GRCm38) K679E possibly damaging Het
Kng1 T C 16: 23,074,645 (GRCm38) V256A possibly damaging Het
Lamc2 T G 1: 153,166,153 (GRCm38) R78S possibly damaging Het
Loxl4 A G 19: 42,598,793 (GRCm38) F621S probably damaging Het
Lpl T A 8: 68,892,747 (GRCm38) D134E probably damaging Het
Lypd3 T C 7: 24,640,494 (GRCm38) Y329H probably benign Het
Mettl13 T C 1: 162,535,886 (GRCm38) D225G probably benign Het
Myo7b A G 18: 31,999,974 (GRCm38) F441L probably damaging Het
Nnt T A 13: 119,336,328 (GRCm38) M699L possibly damaging Het
Nr1h3 A T 2: 91,191,851 (GRCm38) M144K probably damaging Het
Or2t46 A T 11: 58,581,068 (GRCm38) M75L probably benign Het
Or5al6 A G 2: 86,145,969 (GRCm38) V255A probably benign Het
Or6z6 T C 7: 6,488,845 (GRCm38) T3A probably benign Het
Pappa2 A T 1: 158,871,543 (GRCm38) Y667N probably damaging Het
Prps1l3 A G 12: 57,238,888 (GRCm38) I155V probably benign Het
Ptgs2 T A 1: 150,100,993 (GRCm38) N24K probably benign Het
Ralgds A T 2: 28,547,588 (GRCm38) M514L probably damaging Het
Rbm47 G C 5: 66,026,283 (GRCm38) R326G probably damaging Het
Sacm1l T A 9: 123,569,005 (GRCm38) V254D probably damaging Het
Selenot A T 3: 58,585,284 (GRCm38) Q64L probably damaging Het
Sgsm2 G A 11: 74,850,851 (GRCm38) R1037W probably damaging Het
Slc22a12 A G 19: 6,542,724 (GRCm38) V10A probably benign Het
Spem2 G T 11: 69,816,696 (GRCm38) S481* probably null Het
Styk1 C T 6: 131,311,016 (GRCm38) G128D probably damaging Het
Tex54 A T 19: 8,740,784 (GRCm38) D6V probably damaging Het
Tmc6 A T 11: 117,776,328 (GRCm38) L148Q probably damaging Het
Tmem138 A C 19: 10,574,835 (GRCm38) probably null Het
Tnpo3 A G 6: 29,555,268 (GRCm38) V772A probably benign Het
Topaz1 T C 9: 122,797,756 (GRCm38) F1483S possibly damaging Het
Tuba4a C A 1: 75,216,055 (GRCm38) C305F probably damaging Het
Ubap1 T G 4: 41,379,262 (GRCm38) F159V possibly damaging Het
Vmn2r9 A G 5: 108,849,016 (GRCm38) I129T probably benign Het
Wwc2 A T 8: 47,856,263 (GRCm38) M828K unknown Het
Zfp236 A T 18: 82,671,794 (GRCm38) S187T possibly damaging Het
Other mutations in Il17ra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01367:Il17ra APN 6 120,481,465 (GRCm38) missense probably damaging 1.00
IGL01413:Il17ra APN 6 120,475,581 (GRCm38) missense probably benign 0.00
IGL01418:Il17ra APN 6 120,475,581 (GRCm38) missense probably benign 0.00
IGL03215:Il17ra APN 6 120,472,114 (GRCm38) missense probably damaging 1.00
IGL03047:Il17ra UTSW 6 120,481,226 (GRCm38) missense probably damaging 1.00
PIT4305001:Il17ra UTSW 6 120,481,406 (GRCm38) missense probably damaging 1.00
R0042:Il17ra UTSW 6 120,472,125 (GRCm38) splice site probably benign
R0042:Il17ra UTSW 6 120,472,125 (GRCm38) splice site probably benign
R0365:Il17ra UTSW 6 120,478,449 (GRCm38) missense probably benign 0.03
R0391:Il17ra UTSW 6 120,476,979 (GRCm38) splice site probably benign
R0470:Il17ra UTSW 6 120,481,806 (GRCm38) missense probably benign 0.01
R0599:Il17ra UTSW 6 120,481,505 (GRCm38) missense probably damaging 1.00
R1525:Il17ra UTSW 6 120,473,790 (GRCm38) missense probably damaging 0.98
R1900:Il17ra UTSW 6 120,477,394 (GRCm38) critical splice acceptor site probably null
R1972:Il17ra UTSW 6 120,482,216 (GRCm38) missense probably benign 0.01
R4192:Il17ra UTSW 6 120,481,511 (GRCm38) missense probably damaging 1.00
R4923:Il17ra UTSW 6 120,477,445 (GRCm38) missense possibly damaging 0.94
R5009:Il17ra UTSW 6 120,482,207 (GRCm38) missense probably benign 0.00
R5133:Il17ra UTSW 6 120,481,553 (GRCm38) missense possibly damaging 0.81
R5411:Il17ra UTSW 6 120,481,442 (GRCm38) missense probably damaging 1.00
R5548:Il17ra UTSW 6 120,478,473 (GRCm38) missense probably benign 0.23
R6190:Il17ra UTSW 6 120,475,273 (GRCm38) missense probably damaging 1.00
R7202:Il17ra UTSW 6 120,475,611 (GRCm38) missense probably benign 0.01
R7300:Il17ra UTSW 6 120,482,102 (GRCm38) missense probably benign 0.00
R8130:Il17ra UTSW 6 120,478,455 (GRCm38) missense probably benign 0.01
R8152:Il17ra UTSW 6 120,482,102 (GRCm38) missense probably benign 0.00
R8213:Il17ra UTSW 6 120,473,034 (GRCm38) missense probably benign 0.39
R8525:Il17ra UTSW 6 120,474,337 (GRCm38) nonsense probably null
R8560:Il17ra UTSW 6 120,482,265 (GRCm38) missense possibly damaging 0.78
R8675:Il17ra UTSW 6 120,481,988 (GRCm38) missense probably benign 0.05
R8754:Il17ra UTSW 6 120,481,456 (GRCm38) missense probably benign 0.09
R8956:Il17ra UTSW 6 120,481,504 (GRCm38) missense probably damaging 1.00
R9419:Il17ra UTSW 6 120,481,294 (GRCm38) missense possibly damaging 0.63
R9478:Il17ra UTSW 6 120,474,375 (GRCm38) missense possibly damaging 0.83
R9742:Il17ra UTSW 6 120,481,505 (GRCm38) missense probably damaging 1.00
R9790:Il17ra UTSW 6 120,482,279 (GRCm38) missense probably damaging 1.00
R9791:Il17ra UTSW 6 120,482,279 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGCACTCAGTAACTTTAACTTGC -3'
(R):5'- AAGAGAGCTACCAAGTGTGCC -3'

Sequencing Primer
(F):5'- TGTGTACTGGCCCATACACACATG -3'
(R):5'- TACCAAGTGTGCCTGAGTCCAG -3'
Posted On 2017-10-10