Incidental Mutation 'R8545:Il17rd'
| ID |
659599 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il17rd
|
| Ensembl Gene |
ENSMUSG00000040717 |
| Gene Name |
interleukin 17 receptor D |
| Synonyms |
2810004A10Rik, Sef-S, Sef |
| MMRRC Submission |
068510-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8545 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
26760990-26829243 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 26813886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Cysteine
at position 55
(F55C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035336]
[ENSMUST00000223942]
[ENSMUST00000225146]
[ENSMUST00000226105]
|
| AlphaFold |
Q8JZL1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035336
AA Change: F199C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000036076
Gene: ENSMUSG00000040717
AA Change: F199C
| 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: F55C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226105
AA Change: F55C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
G |
11: 84,236,794 (GRCm39) |
Y1779C |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,450,084 (GRCm39) |
N2293D |
possibly damaging |
Het |
| Arhgap30 |
T |
C |
1: 171,234,998 (GRCm39) |
L488P |
probably damaging |
Het |
| Arhgap31 |
T |
A |
16: 38,423,408 (GRCm39) |
Q886L |
probably damaging |
Het |
| Arhgef10 |
T |
G |
8: 14,978,868 (GRCm39) |
V45G |
probably benign |
Het |
| Arhgef10 |
A |
G |
8: 15,025,931 (GRCm39) |
T812A |
possibly damaging |
Het |
| Bbs2 |
T |
C |
8: 94,813,352 (GRCm39) |
S246G |
probably benign |
Het |
| Cby3 |
T |
C |
11: 50,250,243 (GRCm39) |
S150P |
probably benign |
Het |
| Cdc40 |
A |
G |
10: 40,723,939 (GRCm39) |
V283A |
probably benign |
Het |
| Cox15 |
A |
T |
19: 43,728,421 (GRCm39) |
V284E |
probably damaging |
Het |
| Cyp4a12b |
A |
T |
4: 115,290,227 (GRCm39) |
H260L |
probably benign |
Het |
| Dph6 |
G |
A |
2: 114,478,248 (GRCm39) |
A31V |
probably damaging |
Het |
| Dsc2 |
G |
A |
18: 20,167,722 (GRCm39) |
Q123* |
probably null |
Het |
| Eftud2 |
A |
G |
11: 102,731,097 (GRCm39) |
F810S |
probably damaging |
Het |
| Erich3 |
A |
T |
3: 154,467,996 (GRCm39) |
|
probably benign |
Het |
| Gm49368 |
T |
C |
7: 127,679,433 (GRCm39) |
Y192H |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,279,257 (GRCm39) |
L55* |
probably null |
Het |
| Hgsnat |
T |
C |
8: 26,445,707 (GRCm39) |
T396A |
probably benign |
Het |
| Mad1l1 |
A |
C |
5: 140,286,249 (GRCm39) |
M250R |
probably benign |
Het |
| Muc15 |
A |
T |
2: 110,561,581 (GRCm39) |
K6* |
probably null |
Het |
| Muc2 |
A |
G |
7: 141,306,130 (GRCm39) |
N273S |
unknown |
Het |
| Myh1 |
T |
A |
11: 67,093,027 (GRCm39) |
Y78N |
probably benign |
Het |
| Pcdh20 |
T |
A |
14: 88,706,601 (GRCm39) |
H233L |
probably damaging |
Het |
| Pcnx4 |
G |
A |
12: 72,602,856 (GRCm39) |
A373T |
probably benign |
Het |
| Phf3 |
A |
T |
1: 30,863,391 (GRCm39) |
M778K |
possibly damaging |
Het |
| Pigg |
A |
T |
5: 108,489,726 (GRCm39) |
D644V |
probably damaging |
Het |
| Rnf148 |
A |
T |
6: 23,654,570 (GRCm39) |
I142N |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,704,239 (GRCm39) |
|
probably benign |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Tapbp |
A |
G |
17: 34,139,291 (GRCm39) |
M87V |
possibly damaging |
Het |
| Tbccd1 |
T |
C |
16: 22,652,779 (GRCm39) |
Y114C |
probably benign |
Het |
| Tet1 |
A |
T |
10: 62,648,718 (GRCm39) |
W1905R |
probably damaging |
Het |
| Tmem109 |
G |
A |
19: 10,851,734 (GRCm39) |
R37* |
probably null |
Het |
| Wdfy4 |
T |
C |
14: 32,800,258 (GRCm39) |
Y1802C |
probably benign |
Het |
| Zbtb17 |
CCCCCACCTCCACAGACCCCA |
CCCCCACCTCCACAGACCCCACCTCCACAGACCCCA |
4: 141,194,139 (GRCm39) |
|
probably benign |
Het |
| Zcchc4 |
G |
A |
5: 52,976,741 (GRCm39) |
|
probably benign |
Het |
| Zfp646 |
T |
C |
7: 127,484,662 (GRCm39) |
S1772P |
probably benign |
Het |
| Zfp820 |
A |
G |
17: 22,038,438 (GRCm39) |
C297R |
probably damaging |
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 |
|
R8363:Il17rd
|
UTSW |
14 |
26,813,906 (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'- TGTCTTTACCAGAACATCAGACCC -3'
(R):5'- TCCAGTAGCACTTTGAAACACATG -3'
Sequencing Primer
(F):5'- GGCCTGTAAGCCTTGTAA -3'
(R):5'- TAGAGAACATGGAAGCCAC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation