Incidental Mutation 'R3158:Ccr4'
| ID |
263587 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccr4
|
| Ensembl Gene |
ENSMUSG00000047898 |
| Gene Name |
C-C motif chemokine receptor 4 |
| Synonyms |
Cmkbr4, CC CKR-4 |
| MMRRC Submission |
040609-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3158 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
114319384-114333984 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 114321350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 238
(N238K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054414]
[ENSMUST00000215425]
[ENSMUST00000215959]
|
| AlphaFold |
P51680 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054414
AA Change: N238K
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000062677
Gene: ENSMUSG00000047898
AA Change: N238K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
15 |
N/A |
INTRINSIC |
|
Pfam:7TM_GPCR_Srsx
|
50 |
319 |
2.9e-11 |
PFAM |
|
Pfam:7tm_1
|
56 |
304 |
3.2e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215425
AA Change: N238K
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215959
|
| Meta Mutation Damage Score |
0.0835 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (35/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the G-protein-coupled receptor family . It is a receptor for the CC chemokine - MIP-1, RANTES, TARC and MCP-1. Chemokines are a group of small polypeptide, structurally related molecules that regulate cell trafficking of various types of leukocytes. The chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in decreased mortality, decreased tumor necrosis factor production, and decreased IL-1beta production following LPS administration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc2 |
A |
T |
11: 101,220,102 (GRCm39) |
N696I |
probably damaging |
Het |
| Cd300e |
A |
C |
11: 114,952,849 (GRCm39) |
M1R |
probably null |
Het |
| Cep95 |
A |
G |
11: 106,700,013 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,834,918 (GRCm39) |
I1096V |
probably benign |
Het |
| Clca4b |
C |
A |
3: 144,617,878 (GRCm39) |
V742L |
probably benign |
Het |
| Diaph3 |
A |
T |
14: 86,893,892 (GRCm39) |
I39N |
possibly damaging |
Het |
| Dll3 |
A |
T |
7: 27,993,520 (GRCm39) |
D566E |
possibly damaging |
Het |
| Dmpk |
A |
G |
7: 18,826,944 (GRCm39) |
T579A |
probably benign |
Het |
| E330034G19Rik |
A |
T |
14: 24,346,965 (GRCm39) |
Y84F |
possibly damaging |
Het |
| Eya1 |
G |
A |
1: 14,374,691 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,944,940 (GRCm39) |
T1278A |
possibly damaging |
Het |
| Galnt12 |
A |
G |
4: 47,104,264 (GRCm39) |
D174G |
probably damaging |
Het |
| Gm20939 |
T |
A |
17: 95,184,721 (GRCm39) |
H456Q |
probably damaging |
Het |
| Gm7853 |
A |
G |
14: 35,811,358 (GRCm39) |
|
noncoding transcript |
Het |
| Hsd3b5 |
G |
A |
3: 98,529,375 (GRCm39) |
A85V |
probably benign |
Het |
| Itga11 |
A |
G |
9: 62,676,560 (GRCm39) |
K916R |
probably benign |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Krt6a |
T |
C |
15: 101,599,801 (GRCm39) |
Y437C |
probably damaging |
Het |
| Lrp5 |
A |
G |
19: 3,665,849 (GRCm39) |
S707P |
probably damaging |
Het |
| Med14 |
G |
A |
X: 12,550,330 (GRCm39) |
|
probably benign |
Het |
| Mmp11 |
C |
T |
10: 75,762,948 (GRCm39) |
|
probably benign |
Het |
| Mtus2 |
A |
G |
5: 148,168,637 (GRCm39) |
H950R |
probably damaging |
Het |
| Myo1g |
G |
T |
11: 6,464,527 (GRCm39) |
T511K |
possibly damaging |
Het |
| Myo7a |
A |
G |
7: 97,701,499 (GRCm39) |
F2154S |
probably damaging |
Het |
| Or11h4 |
A |
G |
14: 50,974,271 (GRCm39) |
V116A |
probably benign |
Het |
| Or5b101 |
G |
C |
19: 13,005,411 (GRCm39) |
A94G |
probably benign |
Het |
| Or8h8 |
C |
T |
2: 86,752,950 (GRCm39) |
E309K |
probably benign |
Het |
| Prss52 |
G |
T |
14: 64,350,992 (GRCm39) |
W259L |
probably damaging |
Het |
| Sbk2 |
G |
A |
7: 4,960,526 (GRCm39) |
R215* |
probably null |
Het |
| Sectm1a |
A |
G |
11: 120,959,603 (GRCm39) |
I175T |
probably benign |
Het |
| Smu1 |
T |
A |
4: 40,754,529 (GRCm39) |
R123S |
possibly damaging |
Het |
| Stk3 |
A |
G |
15: 35,008,387 (GRCm39) |
S178P |
possibly damaging |
Het |
| Tle6 |
T |
C |
10: 81,431,038 (GRCm39) |
|
probably null |
Het |
| Vmn2r37 |
C |
T |
7: 9,220,713 (GRCm39) |
M383I |
probably benign |
Het |
|
| Other mutations in Ccr4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02625:Ccr4
|
APN |
9 |
114,321,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
kentucky
|
UTSW |
9 |
114,321,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P4748:Ccr4
|
UTSW |
9 |
114,321,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4651001:Ccr4
|
UTSW |
9 |
114,321,261 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1117:Ccr4
|
UTSW |
9 |
114,321,085 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1542:Ccr4
|
UTSW |
9 |
114,321,073 (GRCm39) |
missense |
probably benign |
|
|
R1954:Ccr4
|
UTSW |
9 |
114,321,753 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2047:Ccr4
|
UTSW |
9 |
114,321,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3157:Ccr4
|
UTSW |
9 |
114,321,350 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3159:Ccr4
|
UTSW |
9 |
114,321,350 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4868:Ccr4
|
UTSW |
9 |
114,321,901 (GRCm39) |
missense |
probably benign |
|
|
R5051:Ccr4
|
UTSW |
9 |
114,321,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6102:Ccr4
|
UTSW |
9 |
114,325,561 (GRCm39) |
splice site |
probably null |
|
|
R6475:Ccr4
|
UTSW |
9 |
114,322,047 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6661:Ccr4
|
UTSW |
9 |
114,325,031 (GRCm39) |
intron |
probably benign |
|
|
R7241:Ccr4
|
UTSW |
9 |
114,322,024 (GRCm39) |
missense |
probably benign |
|
|
R7394:Ccr4
|
UTSW |
9 |
114,320,994 (GRCm39) |
missense |
probably benign |
|
|
R8379:Ccr4
|
UTSW |
9 |
114,321,235 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8683:Ccr4
|
UTSW |
9 |
114,321,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8746:Ccr4
|
UTSW |
9 |
114,321,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8902:Ccr4
|
UTSW |
9 |
114,325,620 (GRCm39) |
intron |
probably benign |
|
|
Z1177:Ccr4
|
UTSW |
9 |
114,321,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGCCAGGGTTTCTGTAGC -3'
(R):5'- TCATCACCAGCCTGATCACG -3'
Sequencing Primer
(F):5'- CCTGGATGGCGTAGTCTAGGTAC -3'
(R):5'- AGCCTGATCACGTGGTCAGTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation