Incidental Mutation 'R0063:Il17rd'
ID 43803
Institutional Source Beutler Lab
Gene Symbol Il17rd
Ensembl Gene ENSMUSG00000040717
Gene Name interleukin 17 receptor D
Synonyms 2810004A10Rik, Sef-S, Sef
MMRRC Submission 038355-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0063 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 26760990-26829243 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 26804690 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 88 (C88Y)
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: C88Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036076
Gene: ENSMUSG00000040717
AA Change: C88Y

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: ENSMUST00000223942
AA Change: C88Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000225146
Predicted Effect probably benign
Transcript: ENSMUST00000226105
Meta Mutation Damage Score 0.1447 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.8%
Validation Efficiency 97% (69/71)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik C T 16: 4,678,912 (GRCm39) R245* probably null Het
4930563I02Rik T A 14: 60,333,477 (GRCm39) probably benign Het
Acss1 T C 2: 150,469,212 (GRCm39) T435A probably damaging Het
Aoc2 T A 11: 101,216,897 (GRCm39) S327T probably damaging Het
Arid5a T A 1: 36,357,645 (GRCm39) Y252N probably damaging Het
AU040320 T C 4: 126,733,465 (GRCm39) Y662H probably damaging Het
B4gat1 T A 19: 5,089,735 (GRCm39) L244* probably null Het
Bcam C T 7: 19,500,773 (GRCm39) V134I probably benign Het
Btbd16 A T 7: 130,424,896 (GRCm39) T426S probably benign Het
Btn1a1 C T 13: 23,649,267 (GRCm39) probably null Het
Cap2 T C 13: 46,791,508 (GRCm39) probably benign Het
Capn8 T A 1: 182,429,677 (GRCm39) D299E probably damaging Het
Cdipt G A 7: 126,578,772 (GRCm39) V160I probably benign Het
Cep164 A G 9: 45,679,916 (GRCm39) S1267P possibly damaging Het
Cic T A 7: 24,986,565 (GRCm39) S1299T probably damaging Het
Cic C A 7: 24,986,566 (GRCm39) S1299Y probably damaging Het
Col3a1 T C 1: 45,369,701 (GRCm39) probably benign Het
Cyb5r3 T C 15: 83,046,137 (GRCm39) T60A probably benign Het
Dgkb T G 12: 38,654,112 (GRCm39) S744A probably benign Het
Dock2 T A 11: 34,647,111 (GRCm39) probably null Het
Ece1 C T 4: 137,675,892 (GRCm39) T422M probably benign Het
Ece2 A G 16: 20,461,067 (GRCm39) T442A probably benign Het
Elapor2 T C 5: 9,490,709 (GRCm39) probably benign Het
Eml3 C A 19: 8,915,842 (GRCm39) A644D probably damaging Het
Fbp2 A T 13: 63,001,862 (GRCm39) F118I probably damaging Het
Foxp1 A G 6: 98,921,684 (GRCm39) probably benign Het
Gm10801 G T 2: 98,494,185 (GRCm39) S109I probably benign Het
Ino80c A G 18: 24,239,681 (GRCm39) F160S probably damaging Het
Ints8 T C 4: 11,252,857 (GRCm39) N75S probably damaging Het
Irf2bp1 C T 7: 18,739,772 (GRCm39) R471C possibly damaging Het
Irs1 T A 1: 82,266,580 (GRCm39) E545D probably damaging Het
Lama3 T C 18: 12,661,762 (GRCm39) probably benign Het
Mast4 C A 13: 103,470,723 (GRCm39) probably benign Het
Mcc C G 18: 44,652,583 (GRCm39) probably benign Het
Nat8f2 A T 6: 85,844,815 (GRCm39) S182R possibly damaging Het
Nrcam G T 12: 44,596,811 (GRCm39) V343F possibly damaging Het
Opn5 T C 17: 42,907,517 (GRCm39) S120G probably damaging Het
Pdk2 T C 11: 94,923,306 (GRCm39) H106R probably benign Het
Pkhd1 G A 1: 20,282,174 (GRCm39) T2889I probably benign Het
Pkhd1l1 T A 15: 44,392,633 (GRCm39) L1656H probably damaging Het
Plxna2 A T 1: 194,327,247 (GRCm39) T394S probably benign Het
Pnpla8 T A 12: 44,329,615 (GRCm39) C56S probably damaging Het
Prdm8 G T 5: 98,332,453 (GRCm39) R118L probably damaging Het
Prkce T C 17: 86,789,539 (GRCm39) probably benign Het
Ptprk T A 10: 28,139,763 (GRCm39) Y163N probably damaging Het
Rbbp8 T A 18: 11,867,614 (GRCm39) probably benign Het
Rnh1 A T 7: 140,744,109 (GRCm39) probably null Het
Rtn4 T A 11: 29,655,527 (GRCm39) probably benign Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Slc2a2 T C 3: 28,771,589 (GRCm39) M173T probably damaging Het
Slc2a8 T A 2: 32,870,011 (GRCm39) probably null Het
Tdpoz1 A T 3: 93,578,121 (GRCm39) M221K probably benign Het
Tgm7 G T 2: 120,924,577 (GRCm39) H533Q probably benign Het
Timm29 C A 9: 21,504,304 (GRCm39) A17E probably benign Het
Tmem131 C T 1: 36,858,209 (GRCm39) V713I probably benign Het
Tmem89 A G 9: 108,743,880 (GRCm39) N60S probably benign Het
Tpx2 A G 2: 152,722,043 (GRCm39) T212A probably damaging Het
Trio G T 15: 27,881,523 (GRCm39) probably benign Het
Tulp2 T C 7: 45,170,284 (GRCm39) probably benign Het
Uggt2 A G 14: 119,244,542 (GRCm39) probably benign Het
Vmn2r5 T A 3: 64,411,221 (GRCm39) E449V probably benign Het
Vwa8 A G 14: 79,401,656 (GRCm39) probably benign Het
Xirp2 A G 2: 67,339,427 (GRCm39) D556G probably damaging Het
Xrn1 T C 9: 95,851,588 (GRCm39) L202P probably damaging Het
Zfp354a A T 11: 50,960,398 (GRCm39) H203L probably damaging Het
Zfp53 A C 17: 21,728,367 (GRCm39) R133S probably benign Het
Zfp787 C T 7: 6,135,322 (GRCm39) probably null 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
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
R8363:Il17rd UTSW 14 26,813,906 (GRCm39) missense probably damaging 1.00
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'- GCCAACCATTCTAGTCCTAGCAACG -3'
(R):5'- GGGCACTCTCAGCTTTACTGTCAAC -3'

Sequencing Primer
(F):5'- ATTCTAGTCCTAGCAACGTGCAG -3'
(R):5'- GTCAACACCTGTATGCCCG -3'
Posted On 2013-05-29