Incidental Mutation 'R3688:Il17rd'
| ID |
269635 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il17rd
|
| Ensembl Gene |
ENSMUSG00000040717 |
| Gene Name |
interleukin 17 receptor D |
| Synonyms |
2810004A10Rik, Sef-S, Sef |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3688 (G1)
|
| Quality Score |
165 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
26760990-26829243 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 26761105 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 15
(N15K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153108
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035336]
[ENSMUST00000223942]
[ENSMUST00000225146]
|
| AlphaFold |
Q8JZL1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035336
AA Change: N15K
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000036076
Gene: ENSMUSG00000040717
AA Change: N15K
| 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 null
Transcript: ENSMUST00000223942
AA Change: N15K
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000225146
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,415,968 (GRCm39) |
I687T |
possibly damaging |
Het |
| A1cf |
T |
A |
19: 31,888,569 (GRCm39) |
F100I |
probably damaging |
Het |
| Adam12 |
A |
T |
7: 133,566,525 (GRCm39) |
Y308* |
probably null |
Het |
| Adam3 |
T |
C |
8: 25,193,864 (GRCm39) |
T383A |
probably benign |
Het |
| Adcy8 |
T |
C |
15: 64,743,556 (GRCm39) |
T351A |
probably damaging |
Het |
| Atp11c |
T |
C |
X: 59,327,004 (GRCm39) |
Y431C |
probably benign |
Het |
| Atp7b |
T |
C |
8: 22,494,246 (GRCm39) |
H956R |
probably damaging |
Het |
| Bptf |
C |
A |
11: 106,965,024 (GRCm39) |
R1275L |
probably benign |
Het |
| Cept1 |
G |
T |
3: 106,427,331 (GRCm39) |
N236K |
probably benign |
Het |
| Col15a1 |
C |
T |
4: 47,258,689 (GRCm39) |
T360I |
probably benign |
Het |
| Efcab6 |
G |
A |
15: 83,755,479 (GRCm39) |
Q1323* |
probably null |
Het |
| Efl1 |
T |
A |
7: 82,412,178 (GRCm39) |
S856T |
probably benign |
Het |
| Eftud2 |
T |
C |
11: 102,735,027 (GRCm39) |
E624G |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,171,927 (GRCm39) |
T2929A |
probably damaging |
Het |
| Gm4884 |
A |
G |
7: 40,692,910 (GRCm39) |
H293R |
possibly damaging |
Het |
| Hdac10 |
C |
T |
15: 89,007,767 (GRCm39) |
|
probably null |
Het |
| Kcnt1 |
C |
T |
2: 25,784,371 (GRCm39) |
T258I |
probably damaging |
Het |
| Kif5a |
T |
G |
10: 127,078,643 (GRCm39) |
N334T |
probably damaging |
Het |
| Ksr2 |
A |
G |
5: 117,693,044 (GRCm39) |
Q164R |
probably damaging |
Het |
| Map4k4 |
T |
A |
1: 40,024,331 (GRCm39) |
|
probably null |
Het |
| Naa80 |
T |
C |
9: 107,460,549 (GRCm39) |
V148A |
possibly damaging |
Het |
| Or9a2 |
G |
T |
6: 41,749,160 (GRCm39) |
Y24* |
probably null |
Het |
| Pard3b |
A |
G |
1: 62,518,728 (GRCm39) |
T938A |
probably benign |
Het |
| Pcdhga6 |
T |
A |
18: 37,841,594 (GRCm39) |
I438N |
probably damaging |
Het |
| Pfkm |
T |
A |
15: 98,029,398 (GRCm39) |
N697K |
probably benign |
Het |
| Prr23a4 |
A |
T |
9: 98,785,517 (GRCm39) |
M61L |
probably benign |
Het |
| Pus10 |
T |
C |
11: 23,617,334 (GRCm39) |
F16L |
probably benign |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rangap1 |
A |
T |
15: 81,602,963 (GRCm39) |
M154K |
possibly damaging |
Het |
| Slc25a17 |
A |
G |
15: 81,211,485 (GRCm39) |
F177S |
probably benign |
Het |
| Slc34a2 |
G |
A |
5: 53,222,174 (GRCm39) |
G289S |
probably benign |
Het |
| Strn4 |
A |
G |
7: 16,556,506 (GRCm39) |
Y123C |
probably damaging |
Het |
| Swt1 |
A |
T |
1: 151,267,240 (GRCm39) |
M647K |
probably damaging |
Het |
| Trpm5 |
A |
G |
7: 142,632,193 (GRCm39) |
V872A |
probably damaging |
Het |
| Ubqln4 |
T |
C |
3: 88,470,466 (GRCm39) |
S313P |
probably damaging |
Het |
| Vmn1r17 |
T |
A |
6: 57,337,544 (GRCm39) |
T225S |
probably damaging |
Het |
| Vmn2r75 |
T |
A |
7: 85,797,629 (GRCm39) |
H728L |
probably damaging |
Het |
| Vps33a |
T |
C |
5: 123,673,274 (GRCm39) |
|
probably null |
Het |
| Vwde |
T |
A |
6: 13,186,891 (GRCm39) |
R865S |
probably damaging |
Het |
| Zfp408 |
T |
A |
2: 91,476,777 (GRCm39) |
M126L |
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 |
|
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'- GCTACAGGATCAGAACCAGG -3'
(R):5'- AAAGCTGAGAACCCCGTTGC -3'
Sequencing Primer
(F):5'- CTGAGATTGAGGGCGGAACCTG -3'
(R):5'- GTTGCTCGCGGATCCGG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation