Incidental Mutation 'R0980:Ccr6'
| ID |
97086 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccr6
|
| Ensembl Gene |
ENSMUSG00000040899 |
| Gene Name |
C-C motif chemokine receptor 6 |
| Synonyms |
Cmkbr6 |
| MMRRC Submission |
039106-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0980 (G1)
|
| Quality Score |
214 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
8454875-8475973 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 8474846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 17
(E17G)
|
| 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 |
probably benign
Transcript: ENSMUST00000097418
AA Change: E17G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000095029
Gene: ENSMUSG00000040899
AA Change: E17G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
55 |
308 |
6.5e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164411
AA Change: E17G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000131153
Gene: ENSMUSG00000040899
AA Change: E17G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
55 |
308 |
6.5e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166348
AA Change: E17G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000128559
Gene: ENSMUSG00000040899
AA Change: E17G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
55 |
308 |
6.5e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167956
AA Change: E17G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000128529
Gene: ENSMUSG00000040899
AA Change: E17G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
55 |
308 |
6.5e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177568
AA Change: E17G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000137249
Gene: ENSMUSG00000040899
AA Change: E17G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
55 |
308 |
8.9e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180103
AA Change: E17G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135945
Gene: ENSMUSG00000040899
AA Change: E17G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
55 |
308 |
6.5e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231340
AA Change: E17G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231545
AA Change: E17G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232412
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 89.2%
|
| Validation Efficiency |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankdd1a |
T |
C |
9: 65,424,253 (GRCm39) |
H20R |
probably damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,467,866 (GRCm39) |
E1778G |
possibly damaging |
Het |
| Arhgef18 |
C |
T |
8: 3,439,095 (GRCm39) |
|
probably benign |
Het |
| Blm |
A |
T |
7: 80,149,706 (GRCm39) |
|
probably null |
Het |
| Cep126 |
T |
C |
9: 8,100,720 (GRCm39) |
T605A |
probably damaging |
Het |
| Cnga4 |
C |
A |
7: 105,057,213 (GRCm39) |
P439T |
probably damaging |
Het |
| Col11a1 |
G |
A |
3: 113,932,414 (GRCm39) |
R113H |
unknown |
Het |
| Cyp2a5 |
A |
G |
7: 26,538,431 (GRCm39) |
|
probably null |
Het |
| D430041D05Rik |
A |
G |
2: 104,079,690 (GRCm39) |
V1131A |
probably damaging |
Het |
| Elp3 |
T |
C |
14: 65,815,402 (GRCm39) |
T197A |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,806,378 (GRCm39) |
D1200G |
probably damaging |
Het |
| Gapt |
G |
C |
13: 110,490,273 (GRCm39) |
T130R |
probably damaging |
Het |
| Gprin1 |
T |
C |
13: 54,888,214 (GRCm39) |
D20G |
possibly damaging |
Het |
| Hltf |
T |
C |
3: 20,145,665 (GRCm39) |
S432P |
probably benign |
Het |
| Immt |
T |
C |
6: 71,851,310 (GRCm39) |
V54A |
probably benign |
Het |
| Jhy |
T |
G |
9: 40,856,133 (GRCm39) |
Y118S |
possibly damaging |
Het |
| Kif23 |
C |
A |
9: 61,844,046 (GRCm39) |
K154N |
possibly damaging |
Het |
| Krt79 |
T |
C |
15: 101,846,442 (GRCm39) |
T169A |
probably damaging |
Het |
| Llgl2 |
A |
G |
11: 115,740,827 (GRCm39) |
E443G |
probably damaging |
Het |
| Ltbp4 |
A |
T |
7: 27,023,587 (GRCm39) |
C786S |
probably damaging |
Het |
| Mme |
A |
T |
3: 63,247,550 (GRCm39) |
E278D |
probably benign |
Het |
| Nt5c2 |
G |
T |
19: 46,887,317 (GRCm39) |
Q162K |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,888,887 (GRCm39) |
V2109A |
possibly damaging |
Het |
| Or5p64 |
GGTAG |
GG |
7: 107,855,229 (GRCm39) |
|
probably benign |
Het |
| Or8k28 |
T |
C |
2: 86,285,704 (GRCm39) |
T304A |
probably benign |
Het |
| Or8k38 |
T |
A |
2: 86,488,209 (GRCm39) |
I198L |
probably benign |
Het |
| Osmr |
G |
T |
15: 6,881,921 (GRCm39) |
N74K |
probably benign |
Het |
| Pes1 |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
11: 3,927,636 (GRCm39) |
|
probably benign |
Het |
| Pgd |
A |
T |
4: 149,238,768 (GRCm39) |
|
probably null |
Het |
| Pld1 |
T |
A |
3: 28,178,724 (GRCm39) |
S873T |
probably damaging |
Het |
| Polk |
A |
T |
13: 96,620,272 (GRCm39) |
C664S |
probably benign |
Het |
| Proca1 |
A |
C |
11: 78,095,773 (GRCm39) |
H135P |
probably benign |
Het |
| Ptgs2 |
A |
C |
1: 149,980,061 (GRCm39) |
D333A |
probably damaging |
Het |
| Rexo5 |
T |
C |
7: 119,423,035 (GRCm39) |
V289A |
probably damaging |
Het |
| Rnf125 |
T |
A |
18: 21,112,117 (GRCm39) |
C49* |
probably null |
Het |
| Rprd2 |
C |
A |
3: 95,673,216 (GRCm39) |
R729L |
probably damaging |
Het |
| Sipa1l1 |
A |
G |
12: 82,388,994 (GRCm39) |
S407G |
possibly damaging |
Het |
| Slc35a4 |
C |
A |
18: 36,815,834 (GRCm39) |
N221K |
probably damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,220,761 (GRCm39) |
D563G |
probably benign |
Het |
| Stk39 |
G |
T |
2: 68,222,515 (GRCm39) |
T183K |
probably damaging |
Het |
| Tc2n |
T |
A |
12: 101,644,835 (GRCm39) |
K264* |
probably null |
Het |
| Trim23 |
C |
T |
13: 104,324,635 (GRCm39) |
R238W |
probably damaging |
Het |
| Trim66 |
C |
A |
7: 109,054,877 (GRCm39) |
V1240L |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,584,389 (GRCm39) |
T13913A |
probably damaging |
Het |
| Ubap1 |
T |
G |
4: 41,379,832 (GRCm39) |
C349G |
probably damaging |
Het |
| Vmn1r170 |
A |
T |
7: 23,305,759 (GRCm39) |
I54F |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCTCTCCCATCCACATAGAGAAC -3'
(R):5'- TGGCATGAGTAACTGCCCAGAAC -3'
Sequencing Primer
(F):5'- AGAACCACGCCTGCCTG -3'
(R):5'- GGCCATGTTCAACAGGTAGAC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation