Incidental Mutation 'IGL01807:Ccl2'
ID 155693
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # IGL01807
Quality Score
Status
Chromosome 11
Chromosomal Location 81926403-81928278 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 81926513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 9 (G9D)
Ref Sequence ENSEMBL: ENSMUSP00000000193 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000193] [ENSMUST00000171515]
AlphaFold P10148
Predicted Effect possibly damaging
Transcript: ENSMUST00000000193
AA Change: G9D

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000000193
Gene: ENSMUSG00000035385
AA Change: G9D

DomainStartEndE-ValueType
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
Coding Region Coverage
Validation Efficiency
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 G T 6: 142,551,640 (GRCm39) L1223M probably damaging Het
Ano7 A G 1: 93,330,418 (GRCm39) E814G possibly damaging Het
Atf1 T C 15: 100,149,945 (GRCm39) probably benign Het
Bco2 T C 9: 50,457,158 (GRCm39) probably benign Het
Birc6 A G 17: 74,938,032 (GRCm39) I2625V probably benign Het
Bub1 A G 2: 127,654,897 (GRCm39) S545P probably benign Het
Cacna1i T A 15: 80,258,348 (GRCm39) I1173N probably damaging Het
Ccdc175 T C 12: 72,206,616 (GRCm39) E210G probably benign Het
Chmp2b T A 16: 65,337,091 (GRCm39) T189S probably benign Het
Col4a1 A T 8: 11,297,056 (GRCm39) probably benign Het
Ecm1 A G 3: 95,643,891 (GRCm39) S236P probably damaging Het
Epha8 A G 4: 136,658,993 (GRCm39) V887A probably benign Het
Fam227a T C 15: 79,533,856 (GRCm39) M36V probably benign Het
Fbxo15 T A 18: 84,999,506 (GRCm39) probably benign Het
Mtmr4 A G 11: 87,494,976 (GRCm39) I423V possibly damaging Het
Ngly1 C T 14: 16,290,873 (GRCm38) L452F probably benign Het
Or52u1 T A 7: 104,237,091 (GRCm39) W27R probably damaging Het
Or5ac15 T C 16: 58,939,936 (GRCm39) T166A possibly damaging Het
Pak2 T C 16: 31,856,097 (GRCm39) K247E probably damaging Het
Pola2 A G 19: 6,003,187 (GRCm39) probably benign Het
Ppp1r9a C T 6: 5,158,248 (GRCm39) Q1219* probably null Het
Rasgrf1 T C 9: 89,873,566 (GRCm39) I625T probably damaging Het
Rpap1 T C 2: 119,613,189 (GRCm39) T120A possibly damaging Het
Scin T C 12: 40,134,288 (GRCm39) Y252C probably damaging Het
Slc5a9 A T 4: 111,734,737 (GRCm39) *686R probably null Het
Smc1b T A 15: 84,980,946 (GRCm39) D774V probably damaging Het
Uba6 C T 5: 86,270,270 (GRCm39) R838Q probably damaging Het
Ulk4 A G 9: 121,084,251 (GRCm39) S105P probably damaging Het
Vwa3a G A 7: 120,374,729 (GRCm39) probably null Het
Xirp2 A G 2: 67,345,375 (GRCm39) T2539A probably benign Het
Zfpm2 T C 15: 40,616,452 (GRCm39) probably null Het
Other mutations in Ccl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00948:Ccl2 APN 11 81,926,558 (GRCm39) missense possibly damaging 0.83
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
R6289:Ccl2 UTSW 11 81,927,795 (GRCm39) missense probably benign 0.03
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
Posted On 2014-02-04