Incidental Mutation 'R0021:Ccr6'
| ID |
19013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccr6
|
| Ensembl Gene |
ENSMUSG00000040899 |
| Gene Name |
C-C motif chemokine receptor 6 |
| Synonyms |
Cmkbr6 |
| MMRRC Submission |
038316-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0021 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
8454875-8475973 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 8475598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 268
(V268M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156324
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097418]
[ENSMUST00000164411]
[ENSMUST00000166348]
[ENSMUST00000167956]
[ENSMUST00000177568]
[ENSMUST00000180103]
[ENSMUST00000231340]
[ENSMUST00000231545]
|
| AlphaFold |
O54689 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097418
AA Change: V268M
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000095029
Gene: ENSMUSG00000040899
AA Change: V268M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
55 |
308 |
6.5e-55 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164411
AA Change: V268M
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000131153
Gene: ENSMUSG00000040899
AA Change: V268M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
55 |
308 |
6.5e-55 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166348
AA Change: V268M
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000128559
Gene: ENSMUSG00000040899
AA Change: V268M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
55 |
308 |
6.5e-55 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167956
AA Change: V268M
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000128529
Gene: ENSMUSG00000040899
AA Change: V268M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
55 |
308 |
6.5e-55 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177568
AA Change: V268M
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000137249
Gene: ENSMUSG00000040899
AA Change: V268M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
55 |
308 |
8.9e-50 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000180103
AA Change: V268M
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000135945
Gene: ENSMUSG00000040899
AA Change: V268M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
55 |
308 |
6.5e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231340
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231545
AA Change: V268M
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
| Meta Mutation Damage Score |
0.2811 |
| Coding Region Coverage |
- 1x: 84.2%
- 3x: 78.9%
- 10x: 65.7%
- 20x: 50.3%
|
| Validation Efficiency |
96% (92/96) |
| 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. The gene is preferentially expressed by immature dendritic cells and memory T cells. The ligand of this receptor is macrophage inflammatory protein 3 alpha (MIP-3 alpha). This receptor has been shown to be important for B-lineage maturation and antigen-driven B-cell differentiation, and it may regulate the migration and recruitment of dentritic and T cells during inflammatory and immunological responses. Alternatively spliced transcript variants that encode the same protein have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice have decreased inflammatory responses, aberrant trafficking of lymphocytes and dendritic cells, and decreased expression of many inflammatory mediators. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310016G11Rik |
A |
G |
7: 44,326,620 (GRCm39) |
|
noncoding transcript |
Het |
| Abcc5 |
T |
A |
16: 20,197,411 (GRCm39) |
K647* |
probably null |
Het |
| Aplp1 |
A |
G |
7: 30,135,241 (GRCm39) |
|
probably benign |
Het |
| Baiap3 |
T |
C |
17: 25,462,643 (GRCm39) |
E1105G |
probably damaging |
Het |
| Brinp3 |
T |
G |
1: 146,777,189 (GRCm39) |
S545R |
probably benign |
Het |
| Btnl1 |
A |
G |
17: 34,598,468 (GRCm39) |
E28G |
probably benign |
Het |
| Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| D630045J12Rik |
G |
A |
6: 38,160,902 (GRCm39) |
Q1081* |
probably null |
Het |
| Dhx15 |
T |
C |
5: 52,314,830 (GRCm39) |
T626A |
probably damaging |
Het |
| Dhx36 |
T |
C |
3: 62,385,016 (GRCm39) |
I699V |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 65,860,805 (GRCm39) |
I2855T |
probably benign |
Het |
| Duxf4 |
C |
A |
10: 58,071,385 (GRCm39) |
E276D |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,830,201 (GRCm39) |
|
probably benign |
Het |
| Galnt11 |
A |
T |
5: 25,453,855 (GRCm39) |
D27V |
probably damaging |
Het |
| Gm5134 |
T |
A |
10: 75,829,718 (GRCm39) |
C335S |
probably damaging |
Het |
| Hdhd2 |
A |
T |
18: 77,058,311 (GRCm39) |
K227N |
probably damaging |
Het |
| Itgb4 |
A |
T |
11: 115,870,453 (GRCm39) |
D94V |
possibly damaging |
Het |
| Krtcap3 |
A |
G |
5: 31,410,303 (GRCm39) |
H227R |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,369,370 (GRCm39) |
H232R |
probably damaging |
Het |
| Map2k4 |
A |
G |
11: 65,603,110 (GRCm39) |
I174T |
probably damaging |
Het |
| Mcc |
C |
G |
18: 44,652,583 (GRCm39) |
|
probably benign |
Het |
| Mcm9 |
G |
A |
10: 53,413,997 (GRCm39) |
T1099I |
possibly damaging |
Het |
| Nkapd1 |
A |
C |
9: 50,521,725 (GRCm39) |
D65E |
probably damaging |
Het |
| Nqo2 |
T |
C |
13: 34,165,490 (GRCm39) |
I129T |
probably benign |
Het |
| Pdgfrb |
T |
A |
18: 61,197,998 (GRCm39) |
|
probably benign |
Het |
| Phf7 |
C |
T |
14: 30,960,443 (GRCm39) |
|
probably benign |
Het |
| Plac8 |
T |
A |
5: 100,704,434 (GRCm39) |
T88S |
probably benign |
Het |
| Prss52 |
T |
G |
14: 64,341,857 (GRCm39) |
V16G |
probably benign |
Het |
| Psmb9 |
G |
A |
17: 34,403,277 (GRCm39) |
A80V |
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,468,891 (GRCm39) |
V1425E |
probably damaging |
Het |
| Scart2 |
G |
A |
7: 139,876,310 (GRCm39) |
R594H |
probably benign |
Het |
| Scn2a |
T |
C |
2: 65,500,859 (GRCm39) |
V7A |
possibly damaging |
Het |
| Serpini1 |
T |
C |
3: 75,526,620 (GRCm39) |
Y291H |
probably damaging |
Het |
| Setd6 |
A |
G |
8: 96,443,293 (GRCm39) |
K19E |
probably damaging |
Het |
| Siah2 |
T |
C |
3: 58,583,713 (GRCm39) |
H191R |
probably benign |
Het |
| Slc27a2 |
T |
C |
2: 126,409,806 (GRCm39) |
|
probably benign |
Het |
| Tbc1d10a |
T |
C |
11: 4,163,680 (GRCm39) |
C277R |
probably damaging |
Het |
| Trim55 |
A |
C |
3: 19,698,866 (GRCm39) |
M32L |
probably benign |
Het |
| Unc5b |
T |
C |
10: 60,614,698 (GRCm39) |
T200A |
probably benign |
Het |
| Wrap53 |
A |
T |
11: 69,454,712 (GRCm39) |
M219K |
probably damaging |
Het |
| Zfp790 |
G |
A |
7: 29,525,113 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ccr6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00927:Ccr6
|
APN |
17 |
8,474,825 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02227:Ccr6
|
APN |
17 |
8,475,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02339:Ccr6
|
APN |
17 |
8,475,085 (GRCm39) |
missense |
probably benign |
0.01 |
|
E0374:Ccr6
|
UTSW |
17 |
8,475,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0976:Ccr6
|
UTSW |
17 |
8,475,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0980:Ccr6
|
UTSW |
17 |
8,474,846 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1141:Ccr6
|
UTSW |
17 |
8,474,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1674:Ccr6
|
UTSW |
17 |
8,475,049 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2117:Ccr6
|
UTSW |
17 |
8,474,914 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2176:Ccr6
|
UTSW |
17 |
8,475,073 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4736:Ccr6
|
UTSW |
17 |
8,474,896 (GRCm39) |
nonsense |
probably null |
|
|
R5050:Ccr6
|
UTSW |
17 |
8,474,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5786:Ccr6
|
UTSW |
17 |
8,475,244 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6138:Ccr6
|
UTSW |
17 |
8,475,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6856:Ccr6
|
UTSW |
17 |
8,474,881 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6950:Ccr6
|
UTSW |
17 |
8,475,898 (GRCm39) |
makesense |
probably null |
|
|
R7102:Ccr6
|
UTSW |
17 |
8,475,019 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7206:Ccr6
|
UTSW |
17 |
8,475,781 (GRCm39) |
missense |
probably benign |
|
|
R7223:Ccr6
|
UTSW |
17 |
8,474,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7323:Ccr6
|
UTSW |
17 |
8,475,611 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7737:Ccr6
|
UTSW |
17 |
8,463,926 (GRCm39) |
start gained |
probably benign |
|
|
R7974:Ccr6
|
UTSW |
17 |
8,475,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8145:Ccr6
|
UTSW |
17 |
8,474,945 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8699:Ccr6
|
UTSW |
17 |
8,475,398 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8738:Ccr6
|
UTSW |
17 |
8,475,394 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8983:Ccr6
|
UTSW |
17 |
8,474,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9242:Ccr6
|
UTSW |
17 |
8,474,965 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9689:Ccr6
|
UTSW |
17 |
8,475,821 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Posted On |
2013-03-25 |
Incidental Mutation