Incidental Mutation 'IGL00948:Ccl2'
ID 28568
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 # IGL00948
Quality Score
Status
Chromosome 11
Chromosomal Location 81926403-81928278 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 81926558 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 24 (Q24L)
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: Q24L

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000000193
Gene: ENSMUSG00000035385
AA Change: Q24L

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cd33 G A 7: 43,178,982 (GRCm39) probably benign Het
Cmya5 T C 13: 93,227,544 (GRCm39) I2515V probably benign Het
Cntnap5b A G 1: 100,069,082 (GRCm39) T101A probably benign Het
Cyp4a12a T A 4: 115,159,159 (GRCm39) M143K probably damaging Het
Ephb4 C A 5: 137,364,921 (GRCm39) S663R probably damaging Het
Gm4847 T C 1: 166,457,907 (GRCm39) D482G probably benign Het
Gskip C A 12: 105,665,103 (GRCm39) N47K probably damaging Het
Kmt2c T C 5: 25,582,159 (GRCm39) Y473C probably benign Het
Lrrc7 T A 3: 157,867,194 (GRCm39) N849I probably damaging Het
Magel2 T A 7: 62,029,070 (GRCm39) V658E unknown Het
Nmral1 C T 16: 4,534,270 (GRCm39) G57E probably damaging Het
Or6c211 A T 10: 129,505,756 (GRCm39) L211I probably damaging Het
Or8b54 C T 9: 38,687,108 (GRCm39) Q186* probably null Het
Padi3 C A 4: 140,516,254 (GRCm39) R542L possibly damaging Het
Plrg1 T C 3: 82,975,426 (GRCm39) V260A probably damaging Het
Prex2 A G 1: 11,240,838 (GRCm39) H982R probably damaging Het
Rbm26 T A 14: 105,387,779 (GRCm39) T448S probably damaging Het
Ryr1 C T 7: 28,719,620 (GRCm39) M4262I possibly damaging Het
Slc41a3 A T 6: 90,622,696 (GRCm39) D441V probably damaging Het
Slc7a2 A G 8: 41,365,561 (GRCm39) E448G probably benign Het
Smtnl2 C A 11: 72,302,067 (GRCm39) probably null Het
Tox3 G A 8: 90,997,062 (GRCm39) P66L probably damaging Het
Vmn1r19 T C 6: 57,382,247 (GRCm39) F267L probably benign Het
Vmn2r12 A G 5: 109,245,541 (GRCm39) S64P possibly damaging Het
Zfp764 T C 7: 127,004,376 (GRCm39) S252G possibly damaging Het
Other mutations in Ccl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-04-17