Incidental Mutation 'IGL03388:Ccr3'
| ID |
420968 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccr3
|
| Ensembl Gene |
ENSMUSG00000035448 |
| Gene Name |
C-C motif chemokine receptor 3 |
| Synonyms |
Cmkbr3, MIP-1 alphaRL2, CKR3, CC-CKR3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03388
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
123822009-123831726 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 123828658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039107
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039171]
|
| AlphaFold |
P51678 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039171
|
| SMART Domains |
Protein: ENSMUSP00000039107
Gene: ENSMUSG00000035448
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
49 |
320 |
7.9e-9 |
PFAM |
|
Pfam:7tm_1
|
55 |
305 |
2.8e-52 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a receptor for C-C type chemokines. It belongs to family 1 of the G protein-coupled receptors. This receptor binds and responds to a variety of chemokines, including eotaxin (CCL11), eotaxin-3 (CCL26), MCP-3 (CCL7), MCP-4 (CCL13), and RANTES (CCL5). It is highly expressed in eosinophils and basophils, and is also detected in TH1 and TH2 cells, as well as in airway epithelial cells. This receptor may contribute to the accumulation and activation of eosinophils and other inflammatory cells in the allergic airway. It is also known to be an entry co-receptor for HIV-1. This gene and seven other chemokine receptor genes form a chemokine receptor gene cluster on the chromosomal region 3p21. Alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous mutation of this gene results in impaired eosinophil trafficking to the lungs and small intestine, and in increased bronchorestriction following methacholine challenge. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
T |
C |
11: 117,693,596 (GRCm39) |
|
probably benign |
Het |
| B3gnt5 |
A |
G |
16: 19,588,801 (GRCm39) |
K340R |
possibly damaging |
Het |
| Cdan1 |
A |
G |
2: 120,560,992 (GRCm39) |
|
probably benign |
Het |
| Clasp1 |
T |
A |
1: 118,433,233 (GRCm39) |
D237E |
possibly damaging |
Het |
| Ddx18 |
T |
C |
1: 121,493,652 (GRCm39) |
K111E |
possibly damaging |
Het |
| Defa21 |
T |
C |
8: 21,515,764 (GRCm39) |
L54P |
probably damaging |
Het |
| Dennd3 |
T |
C |
15: 73,416,208 (GRCm39) |
V486A |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,838,368 (GRCm39) |
D3143V |
probably damaging |
Het |
| Dnm1l |
A |
G |
16: 16,131,916 (GRCm39) |
|
probably benign |
Het |
| Epb41 |
T |
C |
4: 131,702,105 (GRCm39) |
Y510C |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,011,376 (GRCm39) |
Y2159H |
probably damaging |
Het |
| Fmo1 |
A |
G |
1: 162,663,716 (GRCm39) |
V271A |
probably benign |
Het |
| Gm12185 |
A |
G |
11: 48,799,113 (GRCm39) |
V460A |
probably benign |
Het |
| Hspa8 |
T |
C |
9: 40,716,224 (GRCm39) |
|
probably benign |
Het |
| Hspb7 |
A |
G |
4: 141,151,356 (GRCm39) |
E166G |
probably damaging |
Het |
| Il31ra |
C |
A |
13: 112,682,746 (GRCm39) |
S120I |
probably damaging |
Het |
| Kdm5b |
A |
G |
1: 134,555,060 (GRCm39) |
T1323A |
probably benign |
Het |
| Lgals9 |
T |
A |
11: 78,854,247 (GRCm39) |
I346F |
probably damaging |
Het |
| Lgi2 |
T |
C |
5: 52,695,819 (GRCm39) |
D372G |
probably damaging |
Het |
| Magi3 |
A |
C |
3: 103,923,157 (GRCm39) |
S1187A |
probably benign |
Het |
| Nr1d2 |
A |
G |
14: 18,215,403 (GRCm38) |
F203S |
probably benign |
Het |
| Nup210l |
G |
A |
3: 90,077,351 (GRCm39) |
V896I |
probably damaging |
Het |
| Nxf7 |
T |
C |
X: 134,485,489 (GRCm39) |
K440E |
probably damaging |
Het |
| Or6c206 |
A |
T |
10: 129,097,312 (GRCm39) |
I161F |
probably benign |
Het |
| Or9i1b |
T |
A |
19: 13,896,984 (GRCm39) |
V200D |
probably damaging |
Het |
| Pcdhb6 |
T |
C |
18: 37,469,190 (GRCm39) |
S20P |
probably damaging |
Het |
| Per2 |
G |
T |
1: 91,372,511 (GRCm39) |
|
probably benign |
Het |
| Pi15 |
G |
A |
1: 17,673,001 (GRCm39) |
A67T |
probably benign |
Het |
| Pnp2 |
A |
T |
14: 51,200,995 (GRCm39) |
N160I |
probably damaging |
Het |
| Ppp1r12c |
A |
G |
7: 4,485,069 (GRCm39) |
|
probably benign |
Het |
| Rabgap1l |
A |
T |
1: 160,561,093 (GRCm39) |
|
probably null |
Het |
| Rnf115 |
G |
A |
3: 96,695,984 (GRCm39) |
V257M |
probably damaging |
Het |
| Rtkn |
T |
A |
6: 83,127,071 (GRCm39) |
V346D |
probably benign |
Het |
| Rubcn |
A |
T |
16: 32,661,938 (GRCm39) |
N427K |
probably benign |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Sel1l2 |
A |
C |
2: 140,105,284 (GRCm39) |
|
probably benign |
Het |
| Septin4 |
T |
A |
11: 87,459,042 (GRCm39) |
L472* |
probably null |
Het |
| Slc5a5 |
A |
G |
8: 71,342,972 (GRCm39) |
V196A |
probably benign |
Het |
| Sox13 |
A |
T |
1: 133,316,686 (GRCm39) |
L207H |
probably damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,157,344 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
T |
C |
1: 84,720,907 (GRCm39) |
K1409R |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,797,481 (GRCm39) |
A528T |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,142,343 (GRCm39) |
I1310T |
probably damaging |
Het |
| Ypel5 |
T |
C |
17: 73,153,400 (GRCm39) |
F35L |
probably damaging |
Het |
| Zfp13 |
G |
T |
17: 23,795,888 (GRCm39) |
R228S |
probably benign |
Het |
|
| Other mutations in Ccr3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01916:Ccr3
|
APN |
9 |
123,829,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4810001:Ccr3
|
UTSW |
9 |
123,829,645 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0077:Ccr3
|
UTSW |
9 |
123,829,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0118:Ccr3
|
UTSW |
9 |
123,829,647 (GRCm39) |
nonsense |
probably null |
|
|
R0504:Ccr3
|
UTSW |
9 |
123,829,478 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0576:Ccr3
|
UTSW |
9 |
123,829,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0606:Ccr3
|
UTSW |
9 |
123,828,839 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2108:Ccr3
|
UTSW |
9 |
123,829,336 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3826:Ccr3
|
UTSW |
9 |
123,829,714 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4583:Ccr3
|
UTSW |
9 |
123,829,477 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4807:Ccr3
|
UTSW |
9 |
123,829,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4823:Ccr3
|
UTSW |
9 |
123,828,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4824:Ccr3
|
UTSW |
9 |
123,828,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4932:Ccr3
|
UTSW |
9 |
123,829,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5108:Ccr3
|
UTSW |
9 |
123,828,968 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5590:Ccr3
|
UTSW |
9 |
123,828,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5610:Ccr3
|
UTSW |
9 |
123,829,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5981:Ccr3
|
UTSW |
9 |
123,828,820 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7764:Ccr3
|
UTSW |
9 |
123,829,451 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7780:Ccr3
|
UTSW |
9 |
123,828,989 (GRCm39) |
missense |
probably benign |
|
|
R8035:Ccr3
|
UTSW |
9 |
123,829,012 (GRCm39) |
missense |
probably benign |
|
|
R8422:Ccr3
|
UTSW |
9 |
123,828,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8769:Ccr3
|
UTSW |
9 |
123,829,096 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9169:Ccr3
|
UTSW |
9 |
123,828,949 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9197:Ccr3
|
UTSW |
9 |
123,829,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation