Incidental Mutation 'R8392:Ccl2'
ID 647436
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 067757-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R8392 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 81926403-81928278 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 81927808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 84 (Q84L)
Ref Sequence ENSEMBL: ENSMUSP00000000193 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000193] [ENSMUST00000171515]
AlphaFold P10148
Predicted Effect probably damaging
Transcript: ENSMUST00000000193
AA Change: Q84L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000000193
Gene: ENSMUSG00000035385
AA Change: Q84L

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 probably benign
Transcript: ENSMUST00000171515
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 G A 5: 81,794,397 (GRCm39) A473T probably benign Het
Ano2 T A 6: 125,857,698 (GRCm39) N512K probably benign Het
Arhgap18 A T 10: 26,721,936 (GRCm39) Y41F probably benign Het
Baz1a T A 12: 54,969,908 (GRCm39) D584V probably damaging Het
Cdv3 T A 9: 103,232,474 (GRCm39) H245L probably benign Het
Cfap54 T G 10: 92,798,279 (GRCm39) K1660T unknown Het
Col4a1 T A 8: 11,258,333 (GRCm39) probably null Het
Cpeb3 TTGCTGCTGCTGCTGCTGCTGCCGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCCGCTGCTGCTGCTG 19: 37,152,291 (GRCm39) probably benign Het
Crebbp G A 16: 3,902,145 (GRCm39) R2365W possibly damaging Het
Crppa T A 12: 36,440,497 (GRCm39) L135Q probably damaging Het
Ctsc A T 7: 87,946,451 (GRCm39) Q160L probably benign Het
Cyp4a10 C T 4: 115,386,675 (GRCm39) R441* probably null Het
Cyp8b1 T C 9: 121,744,300 (GRCm39) E344G probably damaging Het
Dnah12 T C 14: 26,607,869 (GRCm39) F3801L probably benign Het
Dnhd1 A G 7: 105,352,550 (GRCm39) R2568G possibly damaging Het
Erbin T A 13: 103,970,570 (GRCm39) E1015D probably damaging Het
Filip1l A G 16: 57,391,716 (GRCm39) E768G probably damaging Het
H2ac13 C T 13: 21,900,656 (GRCm39) A22V unknown Het
Ildr1 G A 16: 36,542,720 (GRCm39) W417* probably null Het
Ildr1 G T 16: 36,542,721 (GRCm39) D418Y probably damaging Het
Kdsr A T 1: 106,671,583 (GRCm39) M142K probably damaging Het
Kidins220 T A 12: 25,040,727 (GRCm39) V111E probably damaging Het
Ly75 T C 2: 60,180,284 (GRCm39) E631G probably benign Het
Muc13 G A 16: 33,619,789 (GRCm39) G179D unknown Het
Nebl T A 2: 17,457,363 (GRCm39) T66S probably benign Het
Npsr1 T A 9: 24,221,377 (GRCm39) I277N possibly damaging Het
Or1j20 T G 2: 36,760,352 (GRCm39) I258S probably damaging Het
Or6c213 T A 10: 129,573,910 (GRCm39) N292I probably damaging Het
Pcdha11 T A 18: 37,139,212 (GRCm39) Y280* probably null Het
Pitrm1 T C 13: 6,599,696 (GRCm39) I46T probably benign Het
Plxnc1 A G 10: 94,637,352 (GRCm39) V1308A possibly damaging Het
Ppp1r9a T C 6: 5,143,491 (GRCm39) probably null Het
Ptgdr A G 14: 45,096,379 (GRCm39) M111T probably damaging Het
Rab3gap1 A G 1: 127,866,370 (GRCm39) K850R probably benign Het
Rsf1 G GACGGCGGCC 7: 97,229,116 (GRCm39) probably benign Het
Smtnl2 T A 11: 72,293,993 (GRCm39) M188L probably benign Het
Snip1 G A 4: 124,960,618 (GRCm39) V25M probably damaging Het
Spock3 A C 8: 63,808,345 (GRCm39) D411A unknown Het
Sptbn4 C T 7: 27,071,721 (GRCm39) R1581H probably damaging Het
Stard13 A G 5: 150,965,627 (GRCm39) S1080P probably benign Het
Svep1 A T 4: 58,070,566 (GRCm39) C2407S possibly damaging Het
Tanc1 T C 2: 59,636,651 (GRCm39) S845P probably damaging Het
Tnfsf13 T C 11: 69,574,688 (GRCm39) Y202C probably damaging Het
Top1 T A 2: 160,559,374 (GRCm39) C632* probably null Het
Tsr1 C A 11: 74,791,096 (GRCm39) T225K probably benign Het
Other mutations in Ccl2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R8783:Ccl2 UTSW 11 81,927,360 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGCCCTTTCTACTCCACAAG -3'
(R):5'- CACTGGTCACTCCTACAGAAG -3'

Sequencing Primer
(F):5'- GCTTATCTTAGAAAACCTGCAGGAG -3'
(R):5'- GTCACTCCTACAGAAGTGCTTGAG -3'
Posted On 2020-09-02