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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |