Incidental Mutation 'R5786:Ccr6'
| ID |
448051 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccr6
|
| Ensembl Gene |
ENSMUSG00000040899 |
| Gene Name |
chemokine (C-C motif) receptor 6 |
| Synonyms |
Cmkbr6 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5786 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
8236043-8257141 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8256412 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 150
(S150P)
|
| 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 damaging
Transcript: ENSMUST00000097418
AA Change: S150P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095029
Gene: ENSMUSG00000040899
AA Change: S150P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
55 |
308 |
6.5e-55 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164411
AA Change: S150P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131153
Gene: ENSMUSG00000040899
AA Change: S150P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
55 |
308 |
6.5e-55 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166348
AA Change: S150P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128559
Gene: ENSMUSG00000040899
AA Change: S150P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
55 |
308 |
6.5e-55 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167956
AA Change: S150P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128529
Gene: ENSMUSG00000040899
AA Change: S150P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
55 |
308 |
6.5e-55 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177568
AA Change: S150P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000137249
Gene: ENSMUSG00000040899
AA Change: S150P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
55 |
308 |
8.9e-50 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180103
AA Change: S150P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135945
Gene: ENSMUSG00000040899
AA Change: S150P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
55 |
308 |
6.5e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231340
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231545
AA Change: S150P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232412
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009J06Rik |
T |
A |
6: 40,968,188 (GRCm38) |
D200E |
probably damaging |
Het |
| 4930578I06Rik |
C |
A |
14: 63,973,242 (GRCm38) |
R179L |
probably damaging |
Het |
| Abhd5 |
A |
G |
9: 122,363,803 (GRCm38) |
|
probably null |
Het |
| Ankrd60 |
TGGCCACGCGG |
TGG |
2: 173,578,089 (GRCm38) |
|
probably null |
Het |
| Ano5 |
G |
A |
7: 51,566,318 (GRCm38) |
D348N |
possibly damaging |
Het |
| Apob |
C |
T |
12: 8,015,304 (GRCm38) |
T4091I |
possibly damaging |
Het |
| Avil |
G |
A |
10: 127,016,499 (GRCm38) |
|
probably null |
Het |
| C530008M17Rik |
T |
C |
5: 76,866,196 (GRCm38) |
|
probably null |
Het |
| Cacna1a |
T |
C |
8: 84,415,721 (GRCm38) |
|
probably benign |
Het |
| Capn7 |
T |
C |
14: 31,360,145 (GRCm38) |
L436P |
probably damaging |
Het |
| Ccdc33 |
A |
G |
9: 58,029,952 (GRCm38) |
S655P |
possibly damaging |
Het |
| Cd1d1 |
T |
C |
3: 86,998,788 (GRCm38) |
N60S |
probably benign |
Het |
| Ckap5 |
A |
G |
2: 91,616,296 (GRCm38) |
|
probably null |
Het |
| Col15a1 |
A |
G |
4: 47,280,865 (GRCm38) |
E753G |
possibly damaging |
Het |
| Col1a2 |
C |
T |
6: 4,530,223 (GRCm38) |
R699W |
unknown |
Het |
| Csf2rb |
T |
C |
15: 78,348,955 (GRCm38) |
Y821H |
probably damaging |
Het |
| Cyp3a11 |
A |
G |
5: 145,862,474 (GRCm38) |
I301T |
possibly damaging |
Het |
| Dpp3 |
C |
T |
19: 4,918,322 (GRCm38) |
G241R |
possibly damaging |
Het |
| Dpyd |
G |
T |
3: 119,427,237 (GRCm38) |
M952I |
probably damaging |
Het |
| Dsg3 |
A |
T |
18: 20,521,571 (GRCm38) |
I111L |
possibly damaging |
Het |
| Ect2 |
A |
G |
3: 27,146,953 (GRCm38) |
F123L |
probably damaging |
Het |
| Ehmt2 |
G |
C |
17: 34,910,743 (GRCm38) |
D961H |
probably damaging |
Het |
| Esp1 |
A |
G |
17: 40,730,918 (GRCm38) |
I34V |
probably benign |
Het |
| Fam171b |
G |
A |
2: 83,878,236 (GRCm38) |
V361I |
probably benign |
Het |
| Flnc |
T |
A |
6: 29,459,537 (GRCm38) |
Y2545* |
probably null |
Het |
| Fmo4 |
C |
T |
1: 162,803,717 (GRCm38) |
G227D |
probably benign |
Het |
| Grn |
C |
T |
11: 102,434,043 (GRCm38) |
Q153* |
probably null |
Het |
| H2-DMb1 |
T |
G |
17: 34,153,434 (GRCm38) |
S12R |
possibly damaging |
Het |
| Ica1 |
G |
T |
6: 8,672,391 (GRCm38) |
N203K |
possibly damaging |
Het |
| Kdm4c |
C |
A |
4: 74,359,485 (GRCm38) |
T792K |
probably damaging |
Het |
| Kif19a |
T |
A |
11: 114,779,223 (GRCm38) |
Y81* |
probably null |
Het |
| Kifc2 |
G |
T |
15: 76,664,378 (GRCm38) |
C440F |
probably damaging |
Het |
| Lpin2 |
A |
G |
17: 71,230,273 (GRCm38) |
T234A |
probably benign |
Het |
| Lysmd2 |
C |
A |
9: 75,635,603 (GRCm38) |
P164Q |
probably benign |
Het |
| Maea |
T |
A |
5: 33,368,683 (GRCm38) |
D234E |
probably benign |
Het |
| Map4k1 |
T |
A |
7: 29,000,020 (GRCm38) |
V572E |
probably damaging |
Het |
| Med6 |
C |
T |
12: 81,573,959 (GRCm38) |
G166R |
probably null |
Het |
| Mtmr10 |
T |
C |
7: 64,337,710 (GRCm38) |
I666T |
probably damaging |
Het |
| Myh14 |
T |
A |
7: 44,613,463 (GRCm38) |
K1777M |
probably benign |
Het |
| Naip6 |
G |
T |
13: 100,300,216 (GRCm38) |
Q600K |
probably benign |
Het |
| Obscn |
A |
G |
11: 59,032,691 (GRCm38) |
S6461P |
probably damaging |
Het |
| Olfr350 |
T |
C |
2: 36,850,049 (GRCm38) |
M1T |
probably null |
Het |
| Osbpl7 |
T |
A |
11: 97,065,832 (GRCm38) |
V567E |
probably damaging |
Het |
| Rad51ap2 |
A |
T |
12: 11,456,920 (GRCm38) |
D281V |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,468,999 (GRCm38) |
L57F |
probably damaging |
Het |
| Rpl24 |
C |
A |
16: 55,967,153 (GRCm38) |
H59N |
possibly damaging |
Het |
| Rtl1 |
G |
A |
12: 109,592,619 (GRCm38) |
L929F |
possibly damaging |
Het |
| Runx3 |
C |
T |
4: 135,163,264 (GRCm38) |
T159I |
probably damaging |
Het |
| Serpine2 |
T |
C |
1: 79,816,920 (GRCm38) |
I99V |
probably benign |
Het |
| Slc12a6 |
C |
A |
2: 112,284,722 (GRCm38) |
P12Q |
probably benign |
Het |
| Slc25a18 |
T |
C |
6: 120,792,074 (GRCm38) |
L184P |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 118,212,897 (GRCm38) |
D57G |
probably benign |
Het |
| Spdye4c |
T |
A |
2: 128,596,841 (GRCm38) |
*340K |
probably null |
Het |
| Srsf5 |
G |
A |
12: 80,949,537 (GRCm38) |
E162K |
possibly damaging |
Het |
| Ssc5d |
T |
C |
7: 4,936,818 (GRCm38) |
V751A |
probably benign |
Het |
| Tcf3 |
T |
C |
10: 80,419,499 (GRCm38) |
N157S |
probably benign |
Het |
| Tdrd7 |
T |
C |
4: 45,989,082 (GRCm38) |
V71A |
probably benign |
Het |
| Tex14 |
T |
C |
11: 87,514,295 (GRCm38) |
C678R |
probably damaging |
Het |
| Tgm3 |
A |
T |
2: 130,026,784 (GRCm38) |
K214* |
probably null |
Het |
| Vps53 |
A |
G |
11: 76,063,007 (GRCm38) |
I659T |
probably benign |
Het |
| Zfp597 |
A |
T |
16: 3,866,159 (GRCm38) |
C244* |
probably null |
Het |
| Zfp933 |
T |
A |
4: 147,828,407 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Ccr6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00927:Ccr6
|
APN |
17 |
8,255,993 (GRCm38) |
missense |
probably benign |
0.07 |
|
IGL02227:Ccr6
|
APN |
17 |
8,256,452 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02339:Ccr6
|
APN |
17 |
8,256,253 (GRCm38) |
missense |
probably benign |
0.01 |
|
E0374:Ccr6
|
UTSW |
17 |
8,256,452 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0021:Ccr6
|
UTSW |
17 |
8,256,766 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R0976:Ccr6
|
UTSW |
17 |
8,256,422 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0980:Ccr6
|
UTSW |
17 |
8,256,014 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1141:Ccr6
|
UTSW |
17 |
8,256,002 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1674:Ccr6
|
UTSW |
17 |
8,256,217 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2117:Ccr6
|
UTSW |
17 |
8,256,082 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R2176:Ccr6
|
UTSW |
17 |
8,256,241 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4736:Ccr6
|
UTSW |
17 |
8,256,064 (GRCm38) |
nonsense |
probably null |
|
|
R5050:Ccr6
|
UTSW |
17 |
8,256,104 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6138:Ccr6
|
UTSW |
17 |
8,256,382 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6856:Ccr6
|
UTSW |
17 |
8,256,049 (GRCm38) |
missense |
probably benign |
0.08 |
|
R6950:Ccr6
|
UTSW |
17 |
8,257,066 (GRCm38) |
makesense |
probably null |
|
|
R7102:Ccr6
|
UTSW |
17 |
8,256,187 (GRCm38) |
missense |
probably benign |
0.15 |
|
R7206:Ccr6
|
UTSW |
17 |
8,256,949 (GRCm38) |
missense |
probably benign |
|
|
R7223:Ccr6
|
UTSW |
17 |
8,256,140 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7323:Ccr6
|
UTSW |
17 |
8,256,779 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R7737:Ccr6
|
UTSW |
17 |
8,245,094 (GRCm38) |
start gained |
probably benign |
|
|
R7974:Ccr6
|
UTSW |
17 |
8,256,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8145:Ccr6
|
UTSW |
17 |
8,256,113 (GRCm38) |
missense |
probably benign |
0.16 |
|
R8699:Ccr6
|
UTSW |
17 |
8,256,566 (GRCm38) |
missense |
probably benign |
0.20 |
|
R8738:Ccr6
|
UTSW |
17 |
8,256,562 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8983:Ccr6
|
UTSW |
17 |
8,256,046 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9242:Ccr6
|
UTSW |
17 |
8,256,133 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9689:Ccr6
|
UTSW |
17 |
8,256,989 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGGCAGTTACTCATGCC -3'
(R):5'- CCTGCACCAAGGTCTTGATAATG -3'
Sequencing Primer
(F):5'- GTTACTCATGCCACCAACACTTG -3'
(R):5'- TGCACCAAGGTCTTGATAATGAACAG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation