Incidental Mutation 'R7741:Il17rd'
| ID |
596572 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il17rd
|
| Ensembl Gene |
ENSMUSG00000040717 |
| Gene Name |
interleukin 17 receptor D |
| Synonyms |
2810004A10Rik, Sef-S, Sef |
| MMRRC Submission |
045797-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7741 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
26760990-26829243 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26822293 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 673
(E673G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035336]
[ENSMUST00000225146]
[ENSMUST00000226105]
|
| AlphaFold |
Q8JZL1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035336
AA Change: E673G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036076
Gene: ENSMUSG00000040717
AA Change: E673G
| 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 damaging
Transcript: ENSMUST00000225146
AA Change: E529G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000226105
AA Change: E529G
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (53/53) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
C |
T |
10: 76,290,551 (GRCm39) |
P118S |
probably damaging |
Het |
| Adgrl1 |
T |
A |
8: 84,656,343 (GRCm39) |
D215E |
probably damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,902,914 (GRCm39) |
D755G |
probably damaging |
Het |
| Akr1c18 |
T |
A |
13: 4,194,332 (GRCm39) |
D109V |
possibly damaging |
Het |
| Brdt |
G |
A |
5: 107,506,752 (GRCm39) |
R445H |
probably benign |
Het |
| Capn2 |
C |
A |
1: 182,307,288 (GRCm39) |
E517* |
probably null |
Het |
| Celsr1 |
A |
T |
15: 85,863,303 (GRCm39) |
V1243E |
possibly damaging |
Het |
| Cenpe |
C |
G |
3: 134,953,096 (GRCm39) |
|
probably null |
Het |
| Cep135 |
A |
G |
5: 76,778,817 (GRCm39) |
E748G |
probably damaging |
Het |
| Cfap119 |
C |
A |
7: 127,187,159 (GRCm39) |
V35L |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Col6a1 |
C |
A |
10: 76,545,743 (GRCm39) |
A910S |
unknown |
Het |
| Cyp4a14 |
T |
A |
4: 115,347,156 (GRCm39) |
|
probably null |
Het |
| Dot1l |
C |
T |
10: 80,619,378 (GRCm39) |
R412W |
probably damaging |
Het |
| Dyrk2 |
T |
C |
10: 118,695,594 (GRCm39) |
T555A |
probably benign |
Het |
| Foxn3 |
T |
C |
12: 99,162,587 (GRCm39) |
N438S |
probably damaging |
Het |
| Gdpd5 |
T |
C |
7: 99,103,001 (GRCm39) |
F320S |
probably damaging |
Het |
| Grn |
A |
G |
11: 102,326,560 (GRCm39) |
H413R |
probably damaging |
Het |
| Gstm7 |
A |
T |
3: 107,838,963 (GRCm39) |
M3K |
possibly damaging |
Het |
| Klhl29 |
T |
C |
12: 5,187,500 (GRCm39) |
D288G |
possibly damaging |
Het |
| Klk1b11 |
G |
A |
7: 43,426,421 (GRCm39) |
A79T |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,719,359 (GRCm39) |
V3914A |
unknown |
Het |
| Map2k2 |
T |
C |
10: 80,956,877 (GRCm39) |
V307A |
probably benign |
Het |
| Mst1r |
G |
T |
9: 107,784,319 (GRCm39) |
|
probably benign |
Het |
| Nr3c2 |
A |
G |
8: 77,937,275 (GRCm39) |
E834G |
probably damaging |
Het |
| Oga |
A |
T |
19: 45,764,501 (GRCm39) |
L213H |
probably damaging |
Het |
| Ogfod3 |
T |
G |
11: 121,074,362 (GRCm39) |
|
probably null |
Het |
| Or5b102 |
A |
T |
19: 13,041,423 (GRCm39) |
Y216F |
probably damaging |
Het |
| Or8d2 |
T |
C |
9: 38,759,614 (GRCm39) |
L68P |
probably damaging |
Het |
| Plscr4 |
A |
T |
9: 92,364,693 (GRCm39) |
|
probably null |
Het |
| Pou2f1 |
A |
G |
1: 165,703,444 (GRCm39) |
S749P |
probably damaging |
Het |
| Ppp4r3b |
T |
G |
11: 29,155,701 (GRCm39) |
L556V |
possibly damaging |
Het |
| Psd4 |
T |
G |
2: 24,291,108 (GRCm39) |
|
probably null |
Het |
| Rbbp4 |
T |
C |
4: 129,228,356 (GRCm39) |
D33G |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 51,975,153 (GRCm39) |
M354K |
probably damaging |
Het |
| Rmi1 |
A |
G |
13: 58,557,067 (GRCm39) |
K439E |
probably benign |
Het |
| Scgb2b7 |
A |
G |
7: 31,404,454 (GRCm39) |
|
probably null |
Het |
| Sdc1 |
A |
G |
12: 8,841,370 (GRCm39) |
D237G |
probably benign |
Het |
| Sel1l3 |
T |
C |
5: 53,357,593 (GRCm39) |
Y133C |
probably damaging |
Het |
| Snx31 |
A |
G |
15: 36,523,587 (GRCm39) |
|
probably null |
Het |
| Snx7 |
A |
G |
3: 117,632,488 (GRCm39) |
F201S |
probably damaging |
Het |
| Tas2r131 |
C |
T |
6: 132,934,438 (GRCm39) |
V124I |
possibly damaging |
Het |
| Tbx20 |
A |
T |
9: 24,651,581 (GRCm39) |
|
probably null |
Het |
| Topbp1 |
A |
T |
9: 103,197,756 (GRCm39) |
N445I |
probably damaging |
Het |
| Tpx2 |
T |
A |
2: 152,709,263 (GRCm39) |
I31K |
possibly damaging |
Het |
| Trpv3 |
T |
A |
11: 73,179,088 (GRCm39) |
V499E |
probably damaging |
Het |
| Tshr |
G |
A |
12: 91,500,743 (GRCm39) |
W258* |
probably null |
Het |
| Usp32 |
G |
T |
11: 84,878,107 (GRCm39) |
D1543E |
probably damaging |
Het |
| Usp39 |
A |
G |
6: 72,315,521 (GRCm39) |
|
probably benign |
Het |
| Vac14 |
T |
C |
8: 111,361,020 (GRCm39) |
S197P |
probably damaging |
Het |
| Vars2 |
A |
G |
17: 35,971,835 (GRCm39) |
S497P |
probably damaging |
Het |
| Zfp462 |
C |
A |
4: 55,008,637 (GRCm39) |
P201Q |
probably benign |
Het |
| Zkscan5 |
A |
G |
5: 145,157,847 (GRCm39) |
Q783R |
possibly 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 |
|
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'- AGCCGACTCTTATTCATACCTGG -3'
(R):5'- AACAACCATTTCTGCAGTTCAC -3'
Sequencing Primer
(F):5'- TTCATACCTGGAGAGTCAGCATG -3'
(R):5'- GCAGTTCACTATTCCTGTTACTGG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation