Incidental Mutation 'R5025:Il17rc'
| ID |
391296 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il17rc
|
| Ensembl Gene |
ENSMUSG00000030281 |
| Gene Name |
interleukin 17 receptor C |
| Synonyms |
1110025H02Rik, Il17rl, IL17-RL |
| MMRRC Submission |
042616-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R5025 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
113448416-113460124 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113449327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 88
(V88A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053569]
[ENSMUST00000058300]
[ENSMUST00000058548]
[ENSMUST00000101065]
[ENSMUST00000203281]
[ENSMUST00000203661]
[ENSMUST00000204774]
|
| AlphaFold |
no structure available at present |
| 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: ENSMUST00000058300
AA Change: V88A
PolyPhen 2
Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000055343
Gene: ENSMUSG00000030281
AA Change: V88A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:IL17_R_N
|
71 |
190 |
2.8e-45 |
PFAM |
|
Pfam:IL17_R_N
|
189 |
432 |
1.3e-93 |
PFAM |
|
transmembrane domain
|
441 |
460 |
N/A |
INTRINSIC |
|
Pfam:SEFIR
|
473 |
623 |
7.7e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058548
|
| SMART Domains |
Protein: ENSMUSP00000062103
Gene: ENSMUSG00000043088
| 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 |
not run
Transcript: ENSMUST00000147316
AA Change: V28A
|
| 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 |
probably benign
Transcript: ENSMUST00000203661
|
| SMART Domains |
Protein: ENSMUSP00000145345
Gene: ENSMUSG00000043088
| 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 |
probably benign
Transcript: ENSMUST00000204447
AA Change: V28A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205211
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205208
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204774
|
| SMART Domains |
Protein: ENSMUSP00000145384
Gene: ENSMUSG00000043088
| 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: ENSMUST00000203897
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204632
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203668
|
| Meta Mutation Damage Score |
0.1295 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a single-pass type I membrane protein that shares similarity with the interleukin-17 receptor (IL-17RA). Unlike IL-17RA, which is predominantly expressed in hemopoietic cells, and binds with high affinity to only IL-17A, this protein is expressed in nonhemopoietic tissues, and binds both IL-17A and IL-17F with similar affinities. The proinflammatory cytokines, IL-17A and IL-17F, have been implicated in the progression of inflammatory and autoimmune diseases. Multiple alternatively spliced transcript variants encoding different isoforms have been detected for this gene, and it has been proposed that soluble, secreted proteins lacking transmembrane and intracellular domains may function as extracellular antagonists to cytokine signaling. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a reporter allele exhibit increased interleukin-17 secretion, reduced chemokine expression, and decreased susceptibility to experimental autoimmune encephalomyelitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
T |
A |
7: 119,153,719 (GRCm39) |
F10I |
unknown |
Het |
| Adad1 |
G |
T |
3: 37,119,359 (GRCm39) |
A147S |
probably damaging |
Het |
| Atg14 |
T |
G |
14: 47,783,273 (GRCm39) |
N354T |
probably damaging |
Het |
| Brip1 |
T |
A |
11: 85,955,806 (GRCm39) |
E902D |
probably benign |
Het |
| Brwd1 |
A |
G |
16: 95,855,172 (GRCm39) |
S419P |
probably damaging |
Het |
| Camsap3 |
A |
G |
8: 3,654,244 (GRCm39) |
K638R |
probably damaging |
Het |
| Dennd4c |
T |
A |
4: 86,713,536 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
T |
C |
7: 119,671,128 (GRCm39) |
N585S |
probably benign |
Het |
| Eef1akmt2 |
C |
A |
7: 132,453,218 (GRCm39) |
W38L |
probably damaging |
Het |
| Fasn |
A |
T |
11: 120,702,734 (GRCm39) |
D1709E |
probably benign |
Het |
| Fbrsl1 |
T |
C |
5: 110,565,767 (GRCm39) |
D179G |
probably damaging |
Het |
| Fbxl18 |
A |
T |
5: 142,872,068 (GRCm39) |
I389N |
probably damaging |
Het |
| Fuca1 |
G |
T |
4: 135,660,237 (GRCm39) |
G252C |
probably damaging |
Het |
| Fut9 |
T |
A |
4: 25,620,502 (GRCm39) |
H104L |
probably damaging |
Het |
| Glra1 |
C |
T |
11: 55,427,331 (GRCm39) |
|
probably null |
Het |
| Gpsm1 |
T |
C |
2: 26,210,008 (GRCm39) |
V45A |
possibly damaging |
Het |
| Hadha |
A |
G |
5: 30,359,959 (GRCm39) |
|
probably benign |
Het |
| Hddc2 |
C |
T |
10: 31,203,949 (GRCm39) |
T192I |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,377,608 (GRCm39) |
K3458M |
possibly damaging |
Het |
| Igkv14-100 |
A |
G |
6: 68,496,383 (GRCm39) |
D92G |
probably damaging |
Het |
| Inpp5j |
T |
C |
11: 3,450,664 (GRCm39) |
D563G |
probably damaging |
Het |
| Lamc3 |
T |
A |
2: 31,798,681 (GRCm39) |
N462K |
probably benign |
Het |
| Mrpl15 |
T |
C |
1: 4,854,368 (GRCm39) |
|
probably benign |
Het |
| Myh7b |
G |
C |
2: 155,474,293 (GRCm39) |
R1669S |
possibly damaging |
Het |
| Obi1 |
C |
T |
14: 104,745,466 (GRCm39) |
G70E |
probably damaging |
Het |
| Or2n1c |
T |
C |
17: 38,519,334 (GRCm39) |
L66P |
probably damaging |
Het |
| Or5b122 |
G |
T |
19: 13,562,886 (GRCm39) |
A30S |
probably benign |
Het |
| Psg20 |
T |
C |
7: 18,408,291 (GRCm39) |
*473W |
probably null |
Het |
| Rimbp3 |
A |
G |
16: 17,027,671 (GRCm39) |
E365G |
probably damaging |
Het |
| Snai2 |
A |
G |
16: 14,526,053 (GRCm39) |
T235A |
possibly damaging |
Het |
| Tg |
A |
T |
15: 66,579,779 (GRCm39) |
Y1528F |
probably damaging |
Het |
| Tlr3 |
A |
G |
8: 45,856,075 (GRCm39) |
V35A |
probably benign |
Het |
| Tnfsf15 |
T |
C |
4: 63,648,125 (GRCm39) |
I172V |
probably benign |
Het |
| Tns1 |
G |
A |
1: 73,964,641 (GRCm39) |
T1330I |
probably damaging |
Het |
| Zc3h6 |
T |
A |
2: 128,852,353 (GRCm39) |
F330I |
possibly damaging |
Het |
| Zdbf2 |
A |
G |
1: 63,342,809 (GRCm39) |
E396G |
possibly damaging |
Het |
|
| Other mutations in Il17rc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00497:Il17rc
|
APN |
6 |
113,451,132 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03192:Il17rc
|
APN |
6 |
113,449,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Il17rc
|
UTSW |
6 |
113,455,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Il17rc
|
UTSW |
6 |
113,455,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4075:Il17rc
|
UTSW |
6 |
113,458,158 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5052:Il17rc
|
UTSW |
6 |
113,449,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5148:Il17rc
|
UTSW |
6 |
113,459,958 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5302:Il17rc
|
UTSW |
6 |
113,459,997 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5977:Il17rc
|
UTSW |
6 |
113,459,692 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6275:Il17rc
|
UTSW |
6 |
113,457,308 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7010:Il17rc
|
UTSW |
6 |
113,456,249 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8031:Il17rc
|
UTSW |
6 |
113,459,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8138:Il17rc
|
UTSW |
6 |
113,459,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8160:Il17rc
|
UTSW |
6 |
113,453,489 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8209:Il17rc
|
UTSW |
6 |
113,449,771 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8890:Il17rc
|
UTSW |
6 |
113,456,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9310:Il17rc
|
UTSW |
6 |
113,451,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9347:Il17rc
|
UTSW |
6 |
113,457,780 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9350:Il17rc
|
UTSW |
6 |
113,456,048 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9369:Il17rc
|
UTSW |
6 |
113,449,641 (GRCm39) |
missense |
probably benign |
|
|
R9495:Il17rc
|
UTSW |
6 |
113,449,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9514:Il17rc
|
UTSW |
6 |
113,449,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9794:Il17rc
|
UTSW |
6 |
113,453,726 (GRCm39) |
missense |
probably benign |
0.14 |
|
Z1176:Il17rc
|
UTSW |
6 |
113,453,756 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAATGACTTCCAGGCGAGC -3'
(R):5'- ATGCCATGGCGCATAAGCAG -3'
Sequencing Primer
(F):5'- TGACTTCCAGGCGAGCTGAAG -3'
(R):5'- CGCATAAGCAGAGGCCTG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation