Incidental Mutation 'R6289:Ccl2'
| ID |
508311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccl2
|
| Ensembl Gene |
ENSMUSG00000035385 |
| Gene Name |
C-C motif chemokine ligand 2 |
| Synonyms |
MCP1, Sigje, Scya2, monocyte chemoattractant protein-1, MCAF, monocyte chemotactic protein, SMC-CF, MCP-1, HC11 |
| MMRRC Submission |
044459-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R6289 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
81926403-81928278 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 81927795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 80
(K80Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000193
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000193]
[ENSMUST00000171515]
|
| AlphaFold |
P10148 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000193
AA Change: K80Q
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000000193
Gene: ENSMUSG00000035385
AA Change: K80Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
SCY
|
31 |
90 |
4.63e-32 |
SMART |
|
low complexity region
|
128 |
147 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124479
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171515
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (41/41) |
| MGI Phenotype |
FUNCTION: This gene is one of several cytokine genes clustered on chromosome 11. Chemokines are a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes and memory T cells but not for neutrophils. The human ortholog has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, such as psoriasis, rheumatoid arthritis, and atherosclerosis. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defective macrophage recruitment, abnormal choroid morphology, photoreceptor degeneration, and altered response to injury, infection, alcohol, and a high fat diet. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam21 |
A |
G |
12: 81,607,480 (GRCm39) |
V94A |
probably damaging |
Het |
| Ankrd36 |
T |
C |
11: 5,578,837 (GRCm39) |
S34P |
probably damaging |
Het |
| Arid3c |
G |
A |
4: 41,724,285 (GRCm39) |
|
probably benign |
Het |
| Atg16l1 |
C |
T |
1: 87,683,937 (GRCm39) |
R6C |
probably damaging |
Het |
| Bex6 |
A |
G |
16: 32,005,530 (GRCm39) |
I113V |
probably benign |
Het |
| Blk |
T |
C |
14: 63,613,341 (GRCm39) |
|
probably null |
Het |
| C1s1 |
A |
G |
6: 124,508,135 (GRCm39) |
F618S |
probably damaging |
Het |
| Casp8ap2 |
C |
T |
4: 32,639,590 (GRCm39) |
H215Y |
probably damaging |
Het |
| Casp9 |
T |
A |
4: 141,534,496 (GRCm39) |
V302E |
probably damaging |
Het |
| Cit |
T |
G |
5: 116,144,385 (GRCm39) |
*2014E |
probably null |
Het |
| Dclk2 |
A |
T |
3: 86,739,124 (GRCm39) |
S292T |
probably benign |
Het |
| Ddx23 |
T |
C |
15: 98,547,765 (GRCm39) |
E463G |
probably benign |
Het |
| Dennd1b |
T |
C |
1: 139,096,683 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fgf10 |
C |
A |
13: 118,852,028 (GRCm39) |
Q37K |
probably benign |
Het |
| Fgf22 |
A |
G |
10: 79,591,041 (GRCm39) |
D24G |
probably damaging |
Het |
| Gabra1 |
A |
G |
11: 42,045,846 (GRCm39) |
I88T |
probably damaging |
Het |
| Grip2 |
A |
G |
6: 91,755,852 (GRCm39) |
I586T |
probably benign |
Het |
| H1f5 |
G |
T |
13: 21,964,609 (GRCm39) |
P39Q |
probably damaging |
Het |
| Hpse2 |
T |
A |
19: 42,777,418 (GRCm39) |
N583Y |
probably null |
Het |
| Katnal2 |
A |
G |
18: 77,105,151 (GRCm39) |
|
probably null |
Het |
| Keg1 |
T |
G |
19: 12,691,937 (GRCm39) |
C85G |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,106,615 (GRCm39) |
L1356H |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,196,391 (GRCm39) |
K192E |
probably benign |
Het |
| Mks1 |
T |
C |
11: 87,750,485 (GRCm39) |
|
probably null |
Het |
| Or5b110-ps1 |
T |
C |
19: 13,260,158 (GRCm39) |
K88R |
possibly damaging |
Het |
| Rars1 |
C |
T |
11: 35,716,894 (GRCm39) |
M207I |
probably damaging |
Het |
| Rbm6 |
T |
C |
9: 107,655,147 (GRCm39) |
Y896C |
probably damaging |
Het |
| Scarf1 |
T |
A |
11: 75,416,242 (GRCm39) |
W472R |
possibly damaging |
Het |
| Septin8 |
A |
G |
11: 53,425,305 (GRCm39) |
N66S |
probably damaging |
Het |
| Smcr8 |
T |
C |
11: 60,669,424 (GRCm39) |
F191L |
probably damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,935,411 (GRCm39) |
M1879T |
probably benign |
Het |
| Tlr3 |
C |
T |
8: 45,849,966 (GRCm39) |
R901Q |
probably benign |
Het |
| Trpc4ap |
T |
C |
2: 155,505,627 (GRCm39) |
T203A |
possibly damaging |
Het |
| Tubgcp5 |
A |
G |
7: 55,445,671 (GRCm39) |
S58G |
probably benign |
Het |
| Ubtd2 |
A |
G |
11: 32,466,177 (GRCm39) |
E132G |
probably damaging |
Het |
| Uggt2 |
T |
A |
14: 119,279,014 (GRCm39) |
E831V |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,201,325 (GRCm39) |
N418S |
probably benign |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Wdhd1 |
A |
C |
14: 47,495,953 (GRCm39) |
I637S |
possibly damaging |
Het |
|
| Other mutations in Ccl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00948:Ccl2
|
APN |
11 |
81,926,558 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01807:Ccl2
|
APN |
11 |
81,926,513 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2227:Ccl2
|
UTSW |
11 |
81,927,427 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3772:Ccl2
|
UTSW |
11 |
81,927,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4027:Ccl2
|
UTSW |
11 |
81,927,885 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5049:Ccl2
|
UTSW |
11 |
81,927,333 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5073:Ccl2
|
UTSW |
11 |
81,927,984 (GRCm39) |
intron |
probably benign |
|
|
R7041:Ccl2
|
UTSW |
11 |
81,926,489 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R8392:Ccl2
|
UTSW |
11 |
81,927,808 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8783:Ccl2
|
UTSW |
11 |
81,927,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCCTTTCTACTCCACAAG -3'
(R):5'- ACACTGGTCACTCCTACAGAAG -3'
Sequencing Primer
(F):5'- GCTTATCTTAGAAAACCTGCAGGAG -3'
(R):5'- GTCACTCCTACAGAAGTGCTTGAG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation