Incidental Mutation 'IGL00948:Ccl2'
ID28568
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccl2
Ensembl Gene ENSMUSG00000035385
Gene Namechemokine (C-C motif) ligand 2
SynonymsSigje, SMC-CF, monocyte chemoattractant protein-1, MCP1, MCP-1, monocyte chemotactic protein, Scya2, HC11, MCAF
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.104) question?
Stock #IGL00948
Quality Score
Status
Chromosome11
Chromosomal Location82035571-82037453 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 82035732 bp
ZygosityHeterozygous
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]
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: 43,529,558 probably benign Het
Cmya5 T C 13: 93,091,036 I2515V probably benign Het
Cntnap5b A G 1: 100,141,357 T101A probably benign Het
Cyp4a12a T A 4: 115,301,962 M143K probably damaging Het
Ephb4 C A 5: 137,366,659 S663R probably damaging Het
Gm4847 T C 1: 166,630,338 D482G probably benign Het
Gskip C A 12: 105,698,844 N47K probably damaging Het
Kmt2c T C 5: 25,377,161 Y473C probably benign Het
Lrrc7 T A 3: 158,161,557 N849I probably damaging Het
Magel2 T A 7: 62,379,322 V658E unknown Het
Nmral1 C T 16: 4,716,406 G57E probably damaging Het
Olfr801 A T 10: 129,669,887 L211I probably damaging Het
Olfr921 C T 9: 38,775,812 Q186* probably null Het
Padi3 C A 4: 140,788,943 R542L possibly damaging Het
Plrg1 T C 3: 83,068,119 V260A probably damaging Het
Prex2 A G 1: 11,170,614 H982R probably damaging Het
Rbm26 T A 14: 105,150,343 T448S probably damaging Het
Ryr1 C T 7: 29,020,195 M4262I possibly damaging Het
Slc41a3 A T 6: 90,645,714 D441V probably damaging Het
Slc7a2 A G 8: 40,912,524 E448G probably benign Het
Smtnl2 C A 11: 72,411,241 probably null Het
Tox3 G A 8: 90,270,434 P66L probably damaging Het
Vmn1r19 T C 6: 57,405,262 F267L probably benign Het
Vmn2r12 A G 5: 109,097,675 S64P possibly damaging Het
Zfp764 T C 7: 127,405,204 S252G possibly damaging Het
Other mutations in Ccl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01807:Ccl2 APN 11 82035687 missense possibly damaging 0.88
R2227:Ccl2 UTSW 11 82036601 critical splice donor site probably null
R3772:Ccl2 UTSW 11 82036958 missense probably damaging 1.00
R4027:Ccl2 UTSW 11 82037059 missense probably benign 0.23
R5049:Ccl2 UTSW 11 82036507 missense probably damaging 0.99
R5073:Ccl2 UTSW 11 82037158 intron probably benign
R6289:Ccl2 UTSW 11 82036969 missense probably benign 0.03
R7041:Ccl2 UTSW 11 82035663 start codon destroyed probably null 1.00
R8392:Ccl2 UTSW 11 82036982 missense probably damaging 0.98
Posted On2013-04-17