Incidental Mutation 'R8983:Ccr6'
| ID |
683851 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccr6
|
| Ensembl Gene |
ENSMUSG00000040899 |
| Gene Name |
C-C motif chemokine receptor 6 |
| Synonyms |
Cmkbr6 |
| MMRRC Submission |
068816-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8983 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
8454875-8475973 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 8474878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 28
(C28G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095029
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097418]
[ENSMUST00000164411]
[ENSMUST00000166348]
[ENSMUST00000167956]
[ENSMUST00000177568]
[ENSMUST00000180103]
[ENSMUST00000231340]
[ENSMUST00000231545]
|
| AlphaFold |
O54689 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097418
AA Change: C28G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095029
Gene: ENSMUSG00000040899
AA Change: C28G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
55 |
308 |
6.5e-55 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164411
AA Change: C28G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131153
Gene: ENSMUSG00000040899
AA Change: C28G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
55 |
308 |
6.5e-55 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166348
AA Change: C28G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128559
Gene: ENSMUSG00000040899
AA Change: C28G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
55 |
308 |
6.5e-55 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167956
AA Change: C28G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128529
Gene: ENSMUSG00000040899
AA Change: C28G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
55 |
308 |
6.5e-55 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177568
AA Change: C28G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137249
Gene: ENSMUSG00000040899
AA Change: C28G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
55 |
308 |
8.9e-50 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180103
AA Change: C28G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135945
Gene: ENSMUSG00000040899
AA Change: C28G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
55 |
308 |
6.5e-55 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231340
AA Change: C28G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231545
AA Change: C28G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (61/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
A |
T |
2: 151,313,272 (GRCm39) |
F632I |
unknown |
Het |
| 5730522E02Rik |
T |
C |
11: 25,719,069 (GRCm39) |
T26A |
unknown |
Het |
| Ablim1 |
A |
T |
19: 57,227,644 (GRCm39) |
V7E |
probably benign |
Het |
| Adcy5 |
T |
G |
16: 34,977,232 (GRCm39) |
L255R |
possibly damaging |
Het |
| Ahnak |
C |
A |
19: 8,981,477 (GRCm39) |
N920K |
possibly damaging |
Het |
| Arhgef11 |
A |
G |
3: 87,640,508 (GRCm39) |
K1251E |
|
Het |
| Astn1 |
T |
A |
1: 158,491,700 (GRCm39) |
|
probably null |
Het |
| Atxn2 |
A |
G |
5: 121,916,063 (GRCm39) |
Y423C |
probably damaging |
Het |
| Ccdc180 |
T |
A |
4: 45,909,359 (GRCm39) |
V509D |
possibly damaging |
Het |
| Ccdc80 |
T |
C |
16: 44,924,780 (GRCm39) |
V638A |
possibly damaging |
Het |
| Cdca7l |
A |
G |
12: 117,828,902 (GRCm39) |
|
probably benign |
Het |
| Cnot3 |
T |
C |
7: 3,654,328 (GRCm39) |
I52T |
probably damaging |
Het |
| Cped1 |
A |
T |
6: 22,138,686 (GRCm39) |
N555I |
probably benign |
Het |
| Cpne6 |
A |
T |
14: 55,753,711 (GRCm39) |
I390F |
probably damaging |
Het |
| Dlec1 |
A |
G |
9: 118,957,419 (GRCm39) |
D836G |
probably benign |
Het |
| Dnah8 |
T |
A |
17: 31,070,628 (GRCm39) |
V4438D |
probably damaging |
Het |
| Dok3 |
G |
T |
13: 55,671,535 (GRCm39) |
N345K |
probably damaging |
Het |
| Eea1 |
C |
T |
10: 95,855,741 (GRCm39) |
Q593* |
probably null |
Het |
| Eif3m |
T |
C |
2: 104,830,139 (GRCm39) |
Y351C |
possibly damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Epn3 |
T |
C |
11: 94,386,914 (GRCm39) |
E152G |
probably damaging |
Het |
| Faf2 |
A |
G |
13: 54,769,726 (GRCm39) |
S25G |
probably benign |
Het |
| Fam83b |
A |
G |
9: 76,400,357 (GRCm39) |
S249P |
probably damaging |
Het |
| Fgl1 |
A |
T |
8: 41,653,496 (GRCm39) |
S132R |
probably benign |
Het |
| Frem3 |
A |
G |
8: 81,395,875 (GRCm39) |
E1890G |
probably damaging |
Het |
| Gpc5 |
T |
A |
14: 115,330,118 (GRCm39) |
S94T |
unknown |
Het |
| Hectd1 |
A |
G |
12: 51,791,410 (GRCm39) |
V2584A |
probably damaging |
Het |
| Kifc3 |
G |
A |
8: 95,833,104 (GRCm39) |
A498V |
probably damaging |
Het |
| Klra6 |
T |
C |
6: 129,999,573 (GRCm39) |
T132A |
probably benign |
Het |
| Loricrin |
T |
C |
3: 91,988,446 (GRCm39) |
Y280C |
unknown |
Het |
| Lpin2 |
C |
T |
17: 71,553,962 (GRCm39) |
A931V |
unknown |
Het |
| Lpxn |
A |
G |
19: 12,810,522 (GRCm39) |
H322R |
probably damaging |
Het |
| Megf9 |
A |
G |
4: 70,353,634 (GRCm39) |
S391P |
probably benign |
Het |
| Mipep |
G |
A |
14: 61,080,702 (GRCm39) |
V565I |
probably benign |
Het |
| Mmrn1 |
C |
T |
6: 60,953,042 (GRCm39) |
T441I |
probably benign |
Het |
| Mrpl48 |
T |
C |
7: 100,223,702 (GRCm39) |
N14S |
probably benign |
Het |
| Ncald |
A |
G |
15: 37,397,512 (GRCm39) |
F56S |
probably damaging |
Het |
| Or9g3 |
T |
C |
2: 85,584,251 (GRCm39) |
|
probably benign |
Het |
| Pals1 |
G |
A |
12: 78,884,298 (GRCm39) |
D640N |
probably damaging |
Het |
| Plcd3 |
A |
G |
11: 102,962,092 (GRCm39) |
V703A |
possibly damaging |
Het |
| Potefam1 |
A |
G |
2: 111,030,701 (GRCm39) |
S403P |
probably benign |
Het |
| Prss59 |
A |
G |
6: 40,897,934 (GRCm39) |
S250P |
possibly damaging |
Het |
| Qser1 |
T |
C |
2: 104,617,702 (GRCm39) |
I947V |
probably benign |
Het |
| Rdx |
G |
A |
9: 51,974,905 (GRCm39) |
A14T |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,321,175 (GRCm39) |
D1211G |
|
Het |
| Sbpl |
T |
C |
17: 24,172,253 (GRCm39) |
D222G |
unknown |
Het |
| Scn8a |
C |
A |
15: 100,900,030 (GRCm39) |
T703K |
possibly damaging |
Het |
| Setbp1 |
A |
G |
18: 78,902,459 (GRCm39) |
S403P |
probably benign |
Het |
| Sfmbt2 |
A |
G |
2: 10,409,267 (GRCm39) |
S71G |
probably damaging |
Het |
| Slc35f3 |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
8: 127,115,775 (GRCm39) |
|
probably benign |
Het |
| Smco3 |
C |
T |
6: 136,808,730 (GRCm39) |
G48D |
possibly damaging |
Het |
| Spag9 |
T |
C |
11: 93,958,815 (GRCm39) |
S280P |
probably benign |
Het |
| Thada |
T |
C |
17: 84,538,515 (GRCm39) |
T1498A |
probably benign |
Het |
| Tmprss7 |
T |
C |
16: 45,481,263 (GRCm39) |
D641G |
probably damaging |
Het |
| Top6bl |
T |
C |
19: 4,695,714 (GRCm39) |
I513V |
possibly damaging |
Het |
| Trim43a |
A |
G |
9: 88,464,404 (GRCm39) |
D105G |
probably benign |
Het |
| Utp14b |
T |
A |
1: 78,643,003 (GRCm39) |
N300K |
probably benign |
Het |
| Vmn2r83 |
T |
G |
10: 79,327,360 (GRCm39) |
I656S |
probably damaging |
Het |
| Zfp646 |
A |
T |
7: 127,480,777 (GRCm39) |
M985L |
probably benign |
Het |
| Zfp777 |
A |
T |
6: 48,006,158 (GRCm39) |
L412Q |
probably damaging |
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 |
|
R0021:Ccr6
|
UTSW |
17 |
8,475,598 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTGGGGTGAGAATCTAC -3'
(R):5'- ATGAGTAACTGCCCAGAACG -3'
Sequencing Primer
(F):5'- GAATCTACTTTATCTTGGCAGGGAC -3'
(R):5'- TAACTGCCCAGAACGGTAGG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation