Incidental Mutation 'R2393:Il17re'
| ID |
247857 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il17re
|
| Ensembl Gene |
ENSMUSG00000043088 |
| Gene Name |
interleukin 17 receptor E |
| Synonyms |
Il25r |
| MMRRC Submission |
040361-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2393 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
113435659-113447719 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 113439314 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 75
(H75Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145384
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053569]
[ENSMUST00000058548]
[ENSMUST00000101065]
[ENSMUST00000203281]
[ENSMUST00000203661]
[ENSMUST00000204774]
|
| AlphaFold |
Q8BH06 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053569
|
| SMART Domains |
Protein: ENSMUSP00000054378
Gene: ENSMUSG00000043088
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IL17_R_N
|
1 |
207 |
8.2e-109 |
PFAM |
|
transmembrane domain
|
214 |
236 |
N/A |
INTRINSIC |
|
Pfam:SEFIR
|
247 |
384 |
8.5e-29 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058548
AA Change: H75Y
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000062103
Gene: ENSMUSG00000043088
AA Change: H75Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:IL17_R_N
|
26 |
408 |
6.2e-121 |
PFAM |
|
transmembrane domain
|
415 |
437 |
N/A |
INTRINSIC |
|
Pfam:SEFIR
|
448 |
585 |
1.3e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101065
|
| SMART Domains |
Protein: ENSMUSP00000098626
Gene: ENSMUSG00000043088
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IL17_R_N
|
1 |
207 |
8.2e-109 |
PFAM |
|
transmembrane domain
|
214 |
236 |
N/A |
INTRINSIC |
|
Pfam:SEFIR
|
247 |
384 |
8.5e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203281
|
| SMART Domains |
Protein: ENSMUSP00000145363
Gene: ENSMUSG00000043088
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203661
AA Change: H75Y
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000145345
Gene: ENSMUSG00000043088
AA Change: H75Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:IL17_R_N
|
26 |
408 |
5.6e-121 |
PFAM |
|
Pfam:SEFIR
|
403 |
539 |
1.6e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203897
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204523
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204774
AA Change: H75Y
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000145384
Gene: ENSMUSG00000043088
AA Change: H75Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:IL17_R_N
|
26 |
408 |
5.6e-121 |
PFAM |
|
low complexity region
|
417 |
426 |
N/A |
INTRINSIC |
|
Pfam:SEFIR
|
428 |
565 |
1.2e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205211
|
| Meta Mutation Damage Score |
0.2945 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
100% (54/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that functions as the receptor for interleukin-17C. The encoded protein signals to downstream components of the mitogen activated protein kinase (MAPK) pathway. Activity of this protein is important in the immune response to bacterial pathogens. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2013]
PHENOTYPE: Homozygous mice exhibit increased susceptibility to DSS-induced colitis, imiquimod-induced psoriasis, and C. rodentium bacterial infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,225,057 (GRCm39) |
L512* |
probably null |
Het |
| Adam4 |
A |
T |
12: 81,467,485 (GRCm39) |
F379I |
probably benign |
Het |
| Ano6 |
C |
G |
15: 95,863,906 (GRCm39) |
|
probably benign |
Het |
| Apc2 |
A |
G |
10: 80,148,903 (GRCm39) |
E1319G |
possibly damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,473,535 (GRCm39) |
V1588A |
possibly damaging |
Het |
| Arl8a |
T |
A |
1: 135,080,604 (GRCm39) |
V93E |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Cd200r2 |
T |
A |
16: 44,729,630 (GRCm39) |
I95N |
probably damaging |
Het |
| Cd209d |
A |
G |
8: 3,928,436 (GRCm39) |
|
probably null |
Het |
| Cep290 |
A |
G |
10: 100,397,100 (GRCm39) |
|
probably null |
Het |
| Chd2 |
G |
T |
7: 73,157,631 (GRCm39) |
D171E |
possibly damaging |
Het |
| Chrna7 |
G |
A |
7: 62,748,994 (GRCm39) |
A496V |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Colgalt1 |
C |
G |
8: 72,076,385 (GRCm39) |
T612S |
probably benign |
Het |
| Copg2 |
T |
C |
6: 30,787,893 (GRCm39) |
K602E |
probably benign |
Het |
| Crtc1 |
T |
A |
8: 70,840,808 (GRCm39) |
T473S |
probably benign |
Het |
| Ctbp2 |
A |
T |
7: 132,625,290 (GRCm39) |
|
probably null |
Het |
| Edem1 |
T |
G |
6: 108,829,504 (GRCm39) |
M541R |
probably damaging |
Het |
| Ehmt1 |
A |
C |
2: 24,696,229 (GRCm39) |
V953G |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fgfr2 |
T |
C |
7: 129,828,968 (GRCm39) |
|
probably null |
Het |
| Focad |
A |
G |
4: 88,039,567 (GRCm39) |
D10G |
probably damaging |
Het |
| Gfus |
G |
T |
15: 75,798,200 (GRCm39) |
L191I |
probably damaging |
Het |
| Gm5901 |
G |
T |
7: 105,026,996 (GRCm39) |
V255F |
possibly damaging |
Het |
| Hsp90aa1 |
T |
C |
12: 110,659,840 (GRCm39) |
N416S |
probably damaging |
Het |
| Hspb1 |
T |
C |
5: 135,917,950 (GRCm39) |
F142L |
probably benign |
Het |
| Kctd3 |
A |
G |
1: 188,713,568 (GRCm39) |
I389T |
probably damaging |
Het |
| Lhx6 |
T |
C |
2: 35,981,402 (GRCm39) |
D63G |
probably benign |
Het |
| Mepe |
A |
G |
5: 104,485,327 (GRCm39) |
T156A |
possibly damaging |
Het |
| Met |
A |
G |
6: 17,534,197 (GRCm39) |
Y680C |
probably damaging |
Het |
| Mrgpra3 |
T |
C |
7: 47,239,365 (GRCm39) |
Y187C |
possibly damaging |
Het |
| Mst1 |
T |
G |
9: 107,960,151 (GRCm39) |
|
probably null |
Het |
| Myh13 |
T |
A |
11: 67,231,184 (GRCm39) |
S394T |
possibly damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,290,529 (GRCm39) |
V1042E |
probably damaging |
Het |
| Ndrg4 |
T |
A |
8: 96,432,839 (GRCm39) |
Y15* |
probably null |
Het |
| Neurl4 |
G |
A |
11: 69,797,900 (GRCm39) |
R720H |
probably damaging |
Het |
| Nfkbia |
A |
G |
12: 55,537,455 (GRCm39) |
|
probably benign |
Het |
| Nwd1 |
T |
A |
8: 73,389,055 (GRCm39) |
M202K |
probably benign |
Het |
| Or10d4 |
G |
T |
9: 39,580,569 (GRCm39) |
C72F |
possibly damaging |
Het |
| Or2av9 |
T |
A |
11: 58,381,546 (GRCm39) |
I12F |
probably benign |
Het |
| Pate2 |
T |
C |
9: 35,581,036 (GRCm39) |
|
probably benign |
Het |
| Pibf1 |
A |
G |
14: 99,480,368 (GRCm39) |
T715A |
probably benign |
Het |
| Pitpnm1 |
T |
C |
19: 4,160,935 (GRCm39) |
L858P |
probably benign |
Het |
| Pla2g3 |
A |
C |
11: 3,443,115 (GRCm39) |
S483R |
probably benign |
Het |
| Rad51ap2 |
T |
A |
12: 11,507,798 (GRCm39) |
D573E |
probably damaging |
Het |
| Rho |
T |
C |
6: 115,912,352 (GRCm39) |
|
probably benign |
Het |
| Rpl39l |
A |
T |
16: 9,992,328 (GRCm39) |
*52L |
probably null |
Het |
| Slco1a5 |
T |
A |
6: 142,194,501 (GRCm39) |
R381W |
possibly damaging |
Het |
| Spns3 |
T |
A |
11: 72,441,059 (GRCm39) |
|
probably benign |
Het |
| Srgap2 |
A |
G |
1: 131,259,872 (GRCm39) |
S493P |
probably benign |
Het |
| Tecpr2 |
T |
C |
12: 110,892,836 (GRCm39) |
S293P |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,583,211 (GRCm39) |
V20815M |
probably benign |
Het |
| Ushbp1 |
T |
C |
8: 71,847,132 (GRCm39) |
I167V |
probably benign |
Het |
| Wdr81 |
C |
T |
11: 75,340,231 (GRCm39) |
A1296T |
probably damaging |
Het |
| Zmym2 |
A |
G |
14: 57,158,180 (GRCm39) |
Y573C |
probably benign |
Het |
|
| Other mutations in Il17re |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00580:Il17re
|
APN |
6 |
113,446,560 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01568:Il17re
|
APN |
6 |
113,447,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01656:Il17re
|
APN |
6 |
113,439,934 (GRCm39) |
splice site |
probably benign |
|
|
IGL01994:Il17re
|
APN |
6 |
113,445,411 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02261:Il17re
|
APN |
6 |
113,445,472 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02699:Il17re
|
APN |
6 |
113,445,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4382001:Il17re
|
UTSW |
6 |
113,446,038 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0195:Il17re
|
UTSW |
6 |
113,443,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1901:Il17re
|
UTSW |
6 |
113,446,665 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2232:Il17re
|
UTSW |
6 |
113,441,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2357:Il17re
|
UTSW |
6 |
113,445,431 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2916:Il17re
|
UTSW |
6 |
113,442,989 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4820:Il17re
|
UTSW |
6 |
113,442,816 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4951:Il17re
|
UTSW |
6 |
113,445,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4974:Il17re
|
UTSW |
6 |
113,446,530 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5070:Il17re
|
UTSW |
6 |
113,435,971 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5166:Il17re
|
UTSW |
6 |
113,439,923 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5404:Il17re
|
UTSW |
6 |
113,446,063 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5810:Il17re
|
UTSW |
6 |
113,446,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5916:Il17re
|
UTSW |
6 |
113,447,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6048:Il17re
|
UTSW |
6 |
113,447,069 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7432:Il17re
|
UTSW |
6 |
113,439,332 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7548:Il17re
|
UTSW |
6 |
113,443,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7658:Il17re
|
UTSW |
6 |
113,435,943 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7716:Il17re
|
UTSW |
6 |
113,439,930 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7942:Il17re
|
UTSW |
6 |
113,443,111 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8051:Il17re
|
UTSW |
6 |
113,436,328 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8090:Il17re
|
UTSW |
6 |
113,439,250 (GRCm39) |
nonsense |
probably null |
|
|
R8302:Il17re
|
UTSW |
6 |
113,443,280 (GRCm39) |
nonsense |
probably null |
|
|
R9299:Il17re
|
UTSW |
6 |
113,440,971 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Il17re
|
UTSW |
6 |
113,441,753 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCCTACTGGGTATTGACTG -3'
(R):5'- GGCCAATTGCTCAAGTTCTTTTG -3'
Sequencing Primer
(F):5'- GTCTAGAAGACTTGAGAGGACTCCTC -3'
(R):5'- AATTGCTCAAGTTCTTTTGGCCTCAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation