Incidental Mutation 'R7814:Il17rd'
ID 601390
Institutional Source Beutler Lab
Gene Symbol Il17rd
Ensembl Gene ENSMUSG00000040717
Gene Name interleukin 17 receptor D
Synonyms 2810004A10Rik, Sef-S, Sef
MMRRC Submission 045869-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7814 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 26760990-26829243 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 26822074 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 600 (C600Y)
Ref Sequence ENSEMBL: ENSMUSP00000036076 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035336] [ENSMUST00000225146] [ENSMUST00000226105]
AlphaFold Q8JZL1
Predicted Effect probably benign
Transcript: ENSMUST00000035336
AA Change: C600Y

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000036076
Gene: ENSMUSG00000040717
AA Change: C600Y

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: ENSMUST00000225146
AA Change: C456Y

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000226105
AA Change: C456Y

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (90/90)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110065P20Rik C T 4: 124,744,395 (GRCm39) G20R not run Het
Adamts13 A T 2: 26,886,561 (GRCm39) M927L probably benign Het
Akap6 T A 12: 53,187,744 (GRCm39) N1719K probably benign Het
Ank3 G A 10: 69,822,734 (GRCm39) V468M Het
Aox1 A G 1: 58,124,626 (GRCm39) T956A probably benign Het
Ap4m1 T C 5: 138,173,079 (GRCm39) V140A probably benign Het
Apc A G 18: 34,405,592 (GRCm39) T173A probably damaging Het
Bclaf1 A G 10: 20,210,365 (GRCm39) T839A possibly damaging Het
Btn2a2 T A 13: 23,666,976 (GRCm39) I210F possibly damaging Het
Cadps A G 14: 12,376,706 (GRCm38) W1269R probably damaging Het
Capn2 G C 1: 182,319,711 (GRCm39) P159R probably damaging Het
Cblif C A 19: 11,727,551 (GRCm39) P125Q probably benign Het
Ccdc134 T G 15: 82,015,724 (GRCm39) V68G probably damaging Het
Cdh26 A G 2: 178,111,828 (GRCm39) T463A probably damaging Het
Cfap206 C T 4: 34,716,347 (GRCm39) V373I probably benign Het
Clpx T C 9: 65,231,583 (GRCm39) probably null Het
Ctnnd2 A T 15: 31,020,874 (GRCm39) Y1145F probably benign Het
Ctr9 T A 7: 110,633,134 (GRCm39) D127E probably benign Het
Cyp2f2 G A 7: 26,828,678 (GRCm39) V183I probably benign Het
Cyp7b1 G A 3: 18,151,466 (GRCm39) S249L probably benign Het
D630023F18Rik T A 1: 65,155,850 (GRCm39) D125V possibly damaging Het
Dbh A T 2: 27,064,860 (GRCm39) Y357F probably damaging Het
Dbp T A 7: 45,356,414 (GRCm39) L175Q probably benign Het
Dmwd A T 7: 18,814,768 (GRCm39) T473S probably benign Het
Dnah9 T A 11: 65,896,486 (GRCm39) Q2446L probably damaging Het
Dnmbp T C 19: 43,842,615 (GRCm39) K498R probably benign Het
Dop1b T A 16: 93,596,859 (GRCm39) I1924N probably damaging Het
Dsg1a T A 18: 20,471,572 (GRCm39) probably null Het
Dzank1 T C 2: 144,364,484 (GRCm39) T38A probably damaging Het
Egfem1 A G 3: 29,740,940 (GRCm39) H538R probably damaging Het
Entpd1 T C 19: 40,715,891 (GRCm39) C353R probably damaging Het
Ephx2 C A 14: 66,347,678 (GRCm39) C78F probably benign Het
Faf2 A T 13: 54,808,774 (GRCm39) H388L probably benign Het
Fam186a G A 15: 99,842,545 (GRCm39) T1233I possibly damaging Het
Gfra2 C A 14: 71,133,410 (GRCm39) A80E probably damaging Het
Gm17175 T A 14: 51,811,492 (GRCm39) probably benign Het
Gm8180 T C 14: 44,021,103 (GRCm39) D35G possibly damaging Het
Gpr68 C T 12: 100,845,302 (GRCm39) V81M probably damaging Het
Hsd3b6 A G 3: 98,718,259 (GRCm39) L35P probably damaging Het
Hspd1 A C 1: 55,117,803 (GRCm39) V485G possibly damaging Het
Il16 A G 7: 83,319,348 (GRCm39) V381A possibly damaging Het
Ins2 C A 7: 142,233,323 (GRCm39) probably benign Het
Iqca1l G T 5: 24,750,420 (GRCm39) Q626K possibly damaging Het
Itsn2 T C 12: 4,708,561 (GRCm39) I872T probably benign Het
Jakmip3 A T 7: 138,620,858 (GRCm39) D219V probably damaging Het
Jph4 T C 14: 55,347,192 (GRCm39) T452A probably damaging Het
Kazn T C 4: 141,937,481 (GRCm39) E12G unknown Het
Kif20b A C 19: 34,928,355 (GRCm39) S1206R possibly damaging Het
Lca5l A G 16: 95,963,757 (GRCm39) probably null Het
Lgals2 A T 15: 78,735,533 (GRCm39) S60R probably benign Het
Lrrc37 T A 11: 103,504,999 (GRCm39) H2323L possibly damaging Het
Map10 A G 8: 126,398,350 (GRCm39) E581G probably benign Het
Map2k7 G T 8: 4,293,744 (GRCm39) R128L probably benign Het
Mapk8 G C 14: 33,132,834 (GRCm39) S34* probably null Het
Mcat A G 15: 83,432,110 (GRCm39) Y253H probably damaging Het
Mmp2 T C 8: 93,576,798 (GRCm39) L607P probably benign Het
Ncor1 A T 11: 62,224,752 (GRCm39) V836E probably damaging Het
Neb A G 2: 52,027,392 (GRCm39) S7113P probably damaging Het
Nphp4 T C 4: 152,608,729 (GRCm39) F446L possibly damaging Het
Nphp4 G T 4: 152,628,860 (GRCm39) D749Y probably damaging Het
Or14j4 T A 17: 37,921,547 (GRCm39) T32S probably benign Het
Or1j10 T C 2: 36,266,821 (GRCm39) I11T possibly damaging Het
Or4c99 A G 2: 88,329,416 (GRCm39) probably benign Het
Or5k8 T C 16: 58,644,365 (GRCm39) K236E probably damaging Het
Osbpl11 A T 16: 33,030,431 (GRCm39) R220* probably null Het
Plrg1 G A 3: 82,964,144 (GRCm39) V26M probably damaging Het
Polr1b C A 2: 128,967,464 (GRCm39) F952L probably damaging Het
Ppfia3 A C 7: 45,001,686 (GRCm39) S560A probably benign Het
Ppp3cc T A 14: 70,462,464 (GRCm39) N391I possibly damaging Het
Prdx6b T C 2: 80,123,304 (GRCm39) S38P possibly damaging Het
Psg23 A T 7: 18,340,839 (GRCm39) *472R probably null Het
Rapgef4 A T 2: 72,053,461 (GRCm39) M587L probably benign Het
Rfx3 T A 19: 27,803,470 (GRCm39) M247L probably benign Het
Rgs7 T A 1: 174,903,635 (GRCm39) H463L probably benign Het
Riiad1 G T 3: 94,373,162 (GRCm39) S106R probably benign Het
Rims4 A C 2: 163,760,548 (GRCm39) I19S probably benign Het
Ros1 A T 10: 51,972,233 (GRCm39) M1648K probably benign Het
Rrn3 T C 16: 13,629,453 (GRCm39) F590L probably benign Het
Samd9l T A 6: 3,374,793 (GRCm39) T823S possibly damaging Het
Sfxn1 C A 13: 54,245,250 (GRCm39) P115Q possibly damaging Het
Slc10a7 T C 8: 79,425,202 (GRCm39) probably null Het
Slc25a16 A T 10: 62,773,199 (GRCm39) M142L probably benign Het
Stat2 CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC 10: 128,126,597 (GRCm39) probably benign Het
Stat5a T G 11: 100,765,853 (GRCm39) L313R probably damaging Het
Strap A G 6: 137,718,976 (GRCm39) E176G possibly damaging Het
Tlr4 T G 4: 66,759,316 (GRCm39) L703R probably damaging Het
Trim36 A T 18: 46,300,691 (GRCm39) V660D possibly damaging Het
Tspoap1 T A 11: 87,666,350 (GRCm39) D980E probably damaging Het
Usp28 T C 9: 48,915,218 (GRCm39) V157A probably benign Het
Vmn2r17 A T 5: 109,575,739 (GRCm39) R203S probably benign Het
Vmn2r66 T C 7: 84,656,472 (GRCm39) I181M probably benign Het
Zan T A 5: 137,461,841 (GRCm39) T1113S unknown Het
Zfp442 C T 2: 150,251,402 (GRCm39) D167N possibly damaging 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
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'- ACTACTTCCGGAGCAAATCG -3'
(R):5'- TATATGCCTGAGTCCCGTGG -3'

Sequencing Primer
(F):5'- GGCCGCTCCCTGTATGTTG -3'
(R):5'- AGTCCCGTGGCATCTCTGAG -3'
Posted On 2019-11-26