Incidental Mutation 'R1069:Ccr8'
| ID |
86132 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccr8
|
| Ensembl Gene |
ENSMUSG00000042262 |
| Gene Name |
C-C motif chemokine receptor 8 |
| Synonyms |
Cmkbr8 |
| MMRRC Submission |
039155-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1069 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
119921199-119923972 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119923283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 133
(I133V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038473
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048777]
|
| AlphaFold |
P56484 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048777
AA Change: I133V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000038473
Gene: ENSMUSG00000042262
AA Change: I133V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
44 |
313 |
2.4e-8 |
PFAM |
|
Pfam:7tm_1
|
50 |
298 |
3.3e-44 |
PFAM |
|
low complexity region
|
338 |
347 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217495
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
100% (33/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptors are important for the migration of various cell types into the inflammatory sites. This receptor protein preferentially expresses in the thymus. I-309, thymus activation-regulated cytokine (TARC) and macrophage inflammatory protein-1 beta (MIP-1 beta) have been identified as ligands of this receptor. Studies of this receptor and its ligands suggested its role in regulation of monocyte chemotaxis and thymic cell apoptosis. More specifically, this receptor may contribute to the proper positioning of activated T cells within the antigenic challenge sites and specialized areas of lymphoid tissues. This gene is located at the chemokine receptor gene cluster region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for either of two independently generated knock-out alleles show normal lung eosinophilia and Th2 cytokine responses in OVA-elicited asthma models. Mice homozygous for a third knock-out allele show a delay in onset of clinical signs of experimental autoimmune encephalomyelitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
A |
G |
18: 6,624,037 (GRCm39) |
N106S |
probably benign |
Het |
| Akr1c21 |
C |
A |
13: 4,625,333 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
G |
A |
18: 65,438,085 (GRCm39) |
R1570C |
probably benign |
Het |
| Atp8b3 |
G |
A |
10: 80,366,852 (GRCm39) |
R249C |
probably damaging |
Het |
| Cacnb4 |
C |
A |
2: 52,345,623 (GRCm39) |
R252I |
probably damaging |
Het |
| Cars1 |
T |
C |
7: 143,123,844 (GRCm39) |
T480A |
probably benign |
Het |
| Ccnf |
A |
T |
17: 24,442,971 (GRCm39) |
C745* |
probably null |
Het |
| Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
| Dgkq |
T |
C |
5: 108,803,903 (GRCm39) |
|
probably benign |
Het |
| Ecd |
A |
G |
14: 20,383,504 (GRCm39) |
C312R |
probably damaging |
Het |
| Eddm13 |
A |
T |
7: 6,258,921 (GRCm39) |
|
probably null |
Het |
| Gstm1 |
T |
C |
3: 107,920,064 (GRCm39) |
S226G |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Hacd4 |
T |
A |
4: 88,355,739 (GRCm39) |
I49L |
probably damaging |
Het |
| Hid1 |
T |
C |
11: 115,247,591 (GRCm39) |
N269S |
probably damaging |
Het |
| Ifitm3 |
A |
T |
7: 140,589,813 (GRCm39) |
|
probably benign |
Het |
| Kctd9 |
C |
T |
14: 67,966,869 (GRCm39) |
|
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,928,251 (GRCm39) |
L1131P |
probably damaging |
Het |
| Kif2c |
T |
C |
4: 117,035,350 (GRCm39) |
T33A |
probably damaging |
Het |
| Lipc |
T |
C |
9: 70,730,819 (GRCm39) |
T38A |
probably benign |
Het |
| Lrguk |
A |
C |
6: 34,025,818 (GRCm39) |
I205L |
possibly damaging |
Het |
| Mir100hg |
G |
A |
9: 41,501,594 (GRCm39) |
R151H |
possibly damaging |
Het |
| Ncapg |
T |
A |
5: 45,833,272 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
A |
G |
4: 75,916,724 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
T |
A |
4: 76,018,870 (GRCm39) |
K635* |
probably null |
Het |
| Sap130 |
G |
A |
18: 31,844,682 (GRCm39) |
V898I |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Svep1 |
C |
T |
4: 58,070,239 (GRCm39) |
G2516R |
probably damaging |
Het |
| Tas2r131 |
C |
T |
6: 132,934,788 (GRCm39) |
R7K |
probably benign |
Het |
| Tfpi |
A |
G |
2: 84,284,136 (GRCm39) |
|
probably benign |
Het |
| Trim80 |
T |
C |
11: 115,338,909 (GRCm39) |
C580R |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,800,273 (GRCm39) |
I312F |
unknown |
Het |
|
| Other mutations in Ccr8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01511:Ccr8
|
APN |
9 |
119,923,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02558:Ccr8
|
APN |
9 |
119,923,724 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02966:Ccr8
|
APN |
9 |
119,923,206 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03135:Ccr8
|
APN |
9 |
119,923,689 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0402:Ccr8
|
UTSW |
9 |
119,923,976 (GRCm39) |
splice site |
probably null |
|
|
R0739:Ccr8
|
UTSW |
9 |
119,923,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4766:Ccr8
|
UTSW |
9 |
119,923,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4934:Ccr8
|
UTSW |
9 |
119,923,815 (GRCm39) |
missense |
probably benign |
|
|
R5116:Ccr8
|
UTSW |
9 |
119,923,095 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5942:Ccr8
|
UTSW |
9 |
119,923,772 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5957:Ccr8
|
UTSW |
9 |
119,922,893 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5996:Ccr8
|
UTSW |
9 |
119,923,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7223:Ccr8
|
UTSW |
9 |
119,923,683 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8037:Ccr8
|
UTSW |
9 |
119,923,436 (GRCm39) |
missense |
probably benign |
|
|
R8332:Ccr8
|
UTSW |
9 |
119,923,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8962:Ccr8
|
UTSW |
9 |
119,923,613 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9344:Ccr8
|
UTSW |
9 |
119,923,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ccr8
|
UTSW |
9 |
119,923,565 (GRCm39) |
missense |
probably benign |
0.27 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGCAAGAAACTGAGGAGCATCAC -3'
(R):5'- CAGACCCAAGGCGTTGATTTCAAAG -3'
Sequencing Primer
(F):5'- GATATCTACCTCCTGAACCTGGC -3'
(R):5'- TGGGTAAAGAGCTTCCACCTC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation