Incidental Mutation 'R8363:Il17rd'
ID 646066
Institutional Source Beutler Lab
Gene Symbol Il17rd
Ensembl Gene ENSMUSG00000040717
Gene Name interleukin 17 receptor D
Synonyms 2810004A10Rik, Sef-S, Sef
MMRRC Submission 067654-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8363 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 26760990-26829243 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26813906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 206 (N206D)
Ref Sequence ENSEMBL: ENSMUSP00000036076 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035336] [ENSMUST00000223942] [ENSMUST00000225146] [ENSMUST00000226105]
AlphaFold Q8JZL1
Predicted Effect probably damaging
Transcript: ENSMUST00000035336
AA Change: N206D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000036076
Gene: ENSMUSG00000040717
AA Change: N206D

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 benign
Transcript: ENSMUST00000223942
Predicted Effect probably damaging
Transcript: ENSMUST00000225146
AA Change: N62D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000226105
AA Change: N62D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,055,800 (GRCm39) I375L Het
Adamts18 C T 8: 114,493,795 (GRCm39) G448D probably damaging Het
Bzw2 A G 12: 36,180,122 (GRCm39) V35A probably benign Het
C2cd4d C T 3: 94,271,157 (GRCm39) T141M probably benign Het
Chchd4 T A 6: 91,444,737 (GRCm39) K17* probably null Het
Cmas C T 6: 142,702,554 (GRCm39) P19L probably benign Het
Colec10 A G 15: 54,274,238 (GRCm39) H22R probably benign Het
D630045J12Rik T C 6: 38,125,376 (GRCm39) D1546G probably damaging Het
Dgki A T 6: 36,993,613 (GRCm39) C583S probably damaging Het
Dhrs13 G T 11: 77,925,343 (GRCm39) V205L probably damaging Het
Eif4a3l1 T G 6: 136,306,453 (GRCm39) S305A probably benign Het
Eppk1 C T 15: 75,994,319 (GRCm39) R854Q probably benign Het
Erc1 T C 6: 119,730,260 (GRCm39) D612G probably benign Het
Fam163b G A 2: 27,002,650 (GRCm39) R116C probably benign Het
Gm5160 T C 18: 14,557,929 (GRCm39) V2A possibly damaging Het
Gm8247 A T 14: 44,823,919 (GRCm39) I202F Het
Gnpat T C 8: 125,590,038 (GRCm39) V21A probably benign Het
Igfn1 A T 1: 135,891,625 (GRCm39) S2297T probably benign Het
Igkv13-85 A G 6: 68,907,269 (GRCm39) Y111H probably damaging Het
Il1r2 G A 1: 40,160,095 (GRCm39) V272M probably damaging Het
Ivl T A 3: 92,479,525 (GRCm39) H180L possibly damaging Het
Kcnq5 G A 1: 21,549,648 (GRCm39) R360C probably damaging Het
Kirrel2 A G 7: 30,152,968 (GRCm39) V350A probably damaging Het
Mcpt4 A G 14: 56,299,692 (GRCm39) S14P probably damaging Het
Mdm2 A G 10: 117,526,239 (GRCm39) V449A probably damaging Het
Mga T C 2: 119,794,407 (GRCm39) V2697A probably benign Het
Mlxipl T C 5: 135,135,930 (GRCm39) F52L probably benign Het
Mtarc2 A G 1: 184,566,055 (GRCm39) probably null Het
Ndst3 T C 3: 123,350,517 (GRCm39) S623G possibly damaging Het
Oas1a C T 5: 121,043,902 (GRCm39) A77T probably damaging Het
Or4d1 A T 11: 87,805,069 (GRCm39) I221N probably damaging Het
Or9a2 T C 6: 41,748,684 (GRCm39) Q183R probably benign Het
P3h2 A G 16: 25,811,468 (GRCm39) F252L probably damaging Het
Psme4 A G 11: 30,762,139 (GRCm39) D493G probably damaging Het
Rab3ip A C 10: 116,754,869 (GRCm39) I229S probably damaging Het
Ralgapb T C 2: 158,268,119 (GRCm39) L74P probably damaging Het
Scn1a G T 2: 66,152,601 (GRCm39) N804K probably damaging Het
Slc22a6 A T 19: 8,596,386 (GRCm39) H124L probably benign Het
Slc6a6 A G 6: 91,727,277 (GRCm39) I492V probably benign Het
Snx2 G T 18: 53,330,936 (GRCm39) E134* probably null Het
Stt3b A G 9: 115,083,988 (GRCm39) I396T probably damaging Het
Tcp11 A G 17: 28,288,221 (GRCm39) S415P possibly damaging Het
Vmn2r67 A T 7: 84,804,969 (GRCm39) S48T probably benign Het
Vps16 T A 2: 130,284,161 (GRCm39) F665L probably benign Het
Wdhd1 A T 14: 47,513,989 (GRCm39) D22E probably damaging Het
Zng1 A T 19: 24,920,091 (GRCm39) H175Q probably benign Het
Other mutations in Il17rd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01349:Il17rd APN 14 26,817,901 (GRCm39) missense probably damaging 1.00
IGL02274:Il17rd APN 14 26,821,867 (GRCm39) missense probably damaging 1.00
IGL02732:Il17rd APN 14 26,809,376 (GRCm39) missense probably damaging 1.00
IGL03118:Il17rd APN 14 26,815,352 (GRCm39) critical splice acceptor site probably null
IGL03175:Il17rd APN 14 26,821,963 (GRCm39) missense probably damaging 1.00
FR4304:Il17rd UTSW 14 26,804,637 (GRCm39) utr 5 prime probably benign
FR4449:Il17rd UTSW 14 26,804,635 (GRCm39) utr 5 prime probably benign
FR4737:Il17rd UTSW 14 26,804,637 (GRCm39) utr 5 prime probably benign
FR4976:Il17rd UTSW 14 26,804,634 (GRCm39) utr 5 prime probably benign
R0063:Il17rd UTSW 14 26,804,691 (GRCm39) nonsense probably null
R0063:Il17rd UTSW 14 26,804,690 (GRCm39) missense probably damaging 1.00
R0076:Il17rd UTSW 14 26,816,811 (GRCm39) missense probably damaging 1.00
R0452:Il17rd UTSW 14 26,813,888 (GRCm39) missense probably damaging 1.00
R1540:Il17rd UTSW 14 26,821,915 (GRCm39) missense probably damaging 1.00
R1760:Il17rd UTSW 14 26,813,763 (GRCm39) nonsense probably null
R2192:Il17rd UTSW 14 26,816,835 (GRCm39) missense probably damaging 1.00
R2886:Il17rd UTSW 14 26,821,510 (GRCm39) missense probably damaging 1.00
R3688:Il17rd UTSW 14 26,761,105 (GRCm39) missense probably null 0.14
R4534:Il17rd UTSW 14 26,818,019 (GRCm39) missense probably damaging 0.98
R5042:Il17rd UTSW 14 26,817,998 (GRCm39) missense probably damaging 1.00
R5410:Il17rd UTSW 14 26,817,868 (GRCm39) missense probably damaging 1.00
R5528:Il17rd UTSW 14 26,810,024 (GRCm39) missense possibly damaging 0.94
R5829:Il17rd UTSW 14 26,814,042 (GRCm39) splice site probably null
R5919:Il17rd UTSW 14 26,818,001 (GRCm39) missense probably damaging 0.99
R6305:Il17rd UTSW 14 26,817,899 (GRCm39) missense possibly damaging 0.77
R6739:Il17rd UTSW 14 26,821,488 (GRCm39) missense possibly damaging 0.55
R6829:Il17rd UTSW 14 26,809,379 (GRCm39) nonsense probably null
R7301:Il17rd UTSW 14 26,798,348 (GRCm39) missense possibly damaging 0.62
R7336:Il17rd UTSW 14 26,809,503 (GRCm39) missense probably benign 0.00
R7521:Il17rd UTSW 14 26,816,823 (GRCm39) missense probably benign 0.05
R7649:Il17rd UTSW 14 26,761,167 (GRCm39) missense probably benign 0.22
R7741:Il17rd UTSW 14 26,822,293 (GRCm39) missense probably damaging 1.00
R7814:Il17rd UTSW 14 26,822,074 (GRCm39) missense probably benign 0.20
R8545:Il17rd UTSW 14 26,813,886 (GRCm39) missense probably damaging 1.00
R8889:Il17rd UTSW 14 26,821,930 (GRCm39) missense possibly damaging 0.93
Z1177:Il17rd UTSW 14 26,822,218 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- AACATTATAGCCTGTGACCTGTTG -3'
(R):5'- AGACAGACCCAGTGGCATTC -3'

Sequencing Primer
(F):5'- GTTGTTACAACCTGACAACTTGGC -3'
(R):5'- GTGGCATTCTTAAACAACCGCG -3'
Posted On 2020-09-02