Incidental Mutation 'R0076:Il17rd'
ID16403
Institutional Source Beutler Lab
Gene Symbol Il17rd
Ensembl Gene ENSMUSG00000040717
Gene Nameinterleukin 17 receptor D
Synonyms2810004A10Rik, Sef, Sef-S
MMRRC Submission 038363-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0076 (G1)
Quality Score
Status Validated
Chromosome14
Chromosomal Location27038941-27107286 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 27094854 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 172 (L172Q)
Ref Sequence ENSEMBL: ENSMUSP00000153140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035336] [ENSMUST00000225146] [ENSMUST00000226105]
Predicted Effect probably damaging
Transcript: ENSMUST00000035336
AA Change: L316Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000036076
Gene: ENSMUSG00000040717
AA Change: L316Q

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 26 36 N/A INTRINSIC
Pfam:IL17R_D_N 48 169 2.7e-68 PFAM
Pfam:SEFIR 356 511 9.6e-56 PFAM
low complexity region 667 684 N/A INTRINSIC
low complexity region 688 705 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000225146
AA Change: L172Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225829
Predicted Effect probably damaging
Transcript: ENSMUST00000226105
AA Change: L172Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 89.9%
  • 3x: 87.5%
  • 10x: 81.6%
  • 20x: 72.8%
Validation Efficiency 92% (83/90)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane protein belonging to the interleukin-17 receptor (IL-17R) protein family. The encoded protein is a component of the interleukin-17 receptor signaling complex, and the interaction between this protein and IL-17R does not require the interleukin. The gene product also affects fibroblast growth factor signaling, inhibiting or stimulating growth through MAPK/ERK signaling. Alternate splicing generates multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and show no obvious phenotype. A subset of mice homozygous for a gene-trapped allele display cochlear nucleus defects and abnormal auditory brainstem responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T G 7: 120,373,685 probably benign Het
Acpp A G 9: 104,324,218 probably benign Het
Ada T A 2: 163,727,603 probably benign Het
Ankrd17 T A 5: 90,244,406 K1693* probably null Het
Arhgef38 T A 3: 133,160,746 H210L possibly damaging Het
Car10 G A 11: 93,490,597 E129K possibly damaging Het
Cask A G X: 13,678,274 probably benign Het
Cd19 T C 7: 126,410,862 D406G probably damaging Het
Cd93 T C 2: 148,442,136 D430G probably benign Het
Cds1 T C 5: 101,817,840 probably benign Het
Cerkl A T 2: 79,343,289 S259T possibly damaging Het
Cog8 T C 8: 107,054,133 I164M possibly damaging Het
Col4a1 G A 8: 11,218,713 P1009L probably damaging Het
Col9a1 G A 1: 24,237,497 probably null Het
Dcc G A 18: 71,321,046 Q1241* probably null Het
Dock3 A C 9: 106,911,486 probably benign Het
Dus1l A T 11: 120,792,808 probably benign Het
Dvl2 G A 11: 70,008,100 E438K probably damaging Het
Eif3g A G 9: 20,897,753 F85S probably damaging Het
Fam234b A G 6: 135,227,226 M456V probably benign Het
Fbxo47 G A 11: 97,857,655 probably benign Het
Fyb2 A G 4: 104,945,464 T188A possibly damaging Het
Gm11437 T C 11: 84,148,636 T288A possibly damaging Het
Gm5546 T A 3: 104,353,132 noncoding transcript Het
Gmfb C A 14: 46,817,455 A11S probably benign Het
Gpat4 G A 8: 23,190,705 probably benign Het
Ifitm6 T A 7: 141,016,007 R124S possibly damaging Het
Il4 A T 11: 53,613,914 L13Q probably damaging Het
Kif2b A G 11: 91,575,909 M516T probably damaging Het
Kmt2a A G 9: 44,830,059 probably benign Het
Maats1 G A 16: 38,302,684 Q661* probably null Het
Mark1-ps1 T A 17: 53,947,877 noncoding transcript Het
Mndal G T 1: 173,874,447 C96* probably null Het
Mroh1 T C 15: 76,451,140 S1365P probably benign Het
Mrpl12 A G 11: 120,485,442 probably benign Het
Mthfsd C A 8: 121,098,739 V270F probably benign Het
Nbas T A 12: 13,324,336 V555D probably damaging Het
Pcdhb16 T C 18: 37,478,359 V124A probably damaging Het
Pla2g10 T A 16: 13,715,518 Y131F possibly damaging Het
Plec T C 15: 76,191,414 probably benign Het
Polr2b T A 5: 77,326,561 V415E possibly damaging Het
Pou6f1 G A 15: 100,587,836 Q106* probably null Het
Ptprd T C 4: 75,947,039 probably benign Het
Rad54b G A 4: 11,609,480 probably benign Het
Rspo1 G A 4: 124,991,397 R22Q probably benign Het
Scn7a A G 2: 66,714,037 V370A probably benign Het
Sec1 A G 7: 45,678,891 V244A probably damaging Het
Serac1 A G 17: 6,064,937 probably benign Het
Slco2b1 A T 7: 99,685,501 Y254* probably null Het
Steap3 G A 1: 120,227,730 R500C probably damaging Het
Stk10 A G 11: 32,603,722 T580A probably benign Het
Tpo C T 12: 30,104,023 G228R probably damaging Het
Tpx2 T C 2: 152,893,683 F744L probably damaging Het
Ube3b G T 5: 114,408,217 probably null Het
Vmn2r84 A G 10: 130,394,193 S17P probably damaging Het
Vps13d A T 4: 145,164,694 probably benign Het
Zfp532 T A 18: 65,685,627 S851R probably benign Het
Zfp623 G A 15: 75,947,209 E5K probably benign Het
Other mutations in Il17rd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01349:Il17rd APN 14 27095944 missense probably damaging 1.00
IGL02274:Il17rd APN 14 27099910 missense probably damaging 1.00
IGL02732:Il17rd APN 14 27087419 missense probably damaging 1.00
IGL03118:Il17rd APN 14 27093395 critical splice acceptor site probably null
IGL03175:Il17rd APN 14 27100006 missense probably damaging 1.00
FR4304:Il17rd UTSW 14 27082680 utr 5 prime probably benign
FR4449:Il17rd UTSW 14 27082678 utr 5 prime probably benign
FR4737:Il17rd UTSW 14 27082680 utr 5 prime probably benign
FR4976:Il17rd UTSW 14 27082677 utr 5 prime probably benign
R0063:Il17rd UTSW 14 27082733 missense probably damaging 1.00
R0063:Il17rd UTSW 14 27082734 nonsense probably null
R0452:Il17rd UTSW 14 27091931 missense probably damaging 1.00
R1540:Il17rd UTSW 14 27099958 missense probably damaging 1.00
R1760:Il17rd UTSW 14 27091806 nonsense probably null
R2192:Il17rd UTSW 14 27094878 missense probably damaging 1.00
R2886:Il17rd UTSW 14 27099553 missense probably damaging 1.00
R3688:Il17rd UTSW 14 27039148 missense probably null 0.14
R4534:Il17rd UTSW 14 27096062 missense probably damaging 0.98
R5042:Il17rd UTSW 14 27096041 missense probably damaging 1.00
R5410:Il17rd UTSW 14 27095911 missense probably damaging 1.00
R5528:Il17rd UTSW 14 27088067 missense possibly damaging 0.94
R5829:Il17rd UTSW 14 27092085 splice site probably null
R5919:Il17rd UTSW 14 27096044 missense probably damaging 0.99
R6305:Il17rd UTSW 14 27095942 missense possibly damaging 0.77
R6739:Il17rd UTSW 14 27099531 missense possibly damaging 0.55
R6829:Il17rd UTSW 14 27087422 nonsense probably null
R7301:Il17rd UTSW 14 27076391 missense possibly damaging 0.62
R7336:Il17rd UTSW 14 27087546 missense probably benign 0.00
R7521:Il17rd UTSW 14 27094866 missense probably benign 0.05
R7649:Il17rd UTSW 14 27039210 missense probably benign 0.22
R7741:Il17rd UTSW 14 27100336 missense probably damaging 1.00
R7814:Il17rd UTSW 14 27100117 missense probably benign 0.20
Z1177:Il17rd UTSW 14 27100261 missense probably damaging 0.97
Posted On2013-01-20