Incidental Mutation 'R5171:Ccl12'
ID 398734
Institutional Source Beutler Lab
Gene Symbol Ccl12
Ensembl Gene ENSMUSG00000035352
Gene Name C-C motif chemokine ligand 12
Synonyms MCP-5, Scya12
MMRRC Submission 042751-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5171 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 81992671-81994225 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81993460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 33 (C33R)
Ref Sequence ENSEMBL: ENSMUSP00000000194 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000194]
AlphaFold Q62401
Predicted Effect probably damaging
Transcript: ENSMUST00000000194
AA Change: C33R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000194
Gene: ENSMUSG00000035352
AA Change: C33R

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
SCY 30 89 4.49e-30 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124916
Meta Mutation Damage Score 0.7059 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 100% (52/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. 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 basophils but not for neutrophils or eosinophils. It has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis and atherosclerosis. It binds to chemokine receptors CCR2 and CCR4. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and developmentally normal with no apparent alterations in monocyte homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C A 1: 130,670,584 (GRCm39) Q269K probably benign Het
Acad9 T A 3: 36,128,547 (GRCm39) I136N possibly damaging Het
Adtrp A G 13: 41,931,039 (GRCm39) S183P probably damaging Het
Atp11b C T 3: 35,887,086 (GRCm39) T690I probably damaging Het
Bcl2l12 G A 7: 44,640,818 (GRCm39) probably benign Het
Btnl7-ps T A 17: 34,752,503 (GRCm39) noncoding transcript Het
Cdc25a T A 9: 109,706,229 (GRCm39) S57R probably benign Het
Coro2a T A 4: 46,542,372 (GRCm39) probably benign Het
Cpne6 T C 14: 55,749,605 (GRCm39) V55A possibly damaging Het
Ddn A G 15: 98,704,207 (GRCm39) S362P possibly damaging Het
Dmpk C G 7: 18,821,944 (GRCm39) L301V probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Donson A G 16: 91,478,181 (GRCm39) V258A possibly damaging Het
Gm3336 G A 8: 71,174,524 (GRCm39) V163I probably benign Het
Gper1 C T 5: 139,412,413 (GRCm39) R253C probably damaging Het
Gpsm1 T A 2: 26,217,476 (GRCm39) probably benign Het
Hip1 A G 5: 135,469,156 (GRCm39) S251P probably damaging Het
Ifi214 A G 1: 173,354,200 (GRCm39) S157P possibly damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Kntc1 T C 5: 123,937,907 (GRCm39) V1535A probably benign Het
Mbd3l1 A G 9: 18,396,430 (GRCm39) N185S probably benign Het
Mnx1 T C 5: 29,679,851 (GRCm39) Q252R unknown Het
Mroh3 A T 1: 136,119,394 (GRCm39) L463Q possibly damaging Het
Myom1 T C 17: 71,406,967 (GRCm39) V1030A possibly damaging Het
Or3a1d T C 11: 74,237,640 (GRCm39) T257A probably benign Het
Or5ak20 T C 2: 85,184,114 (GRCm39) D52G probably benign Het
Or5w1 T G 2: 87,486,888 (GRCm39) I126L possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Ranbp17 A G 11: 33,167,419 (GRCm39) Y1015H probably benign Het
Rasal1 C T 5: 120,801,829 (GRCm39) T256I probably benign Het
Rexo5 T A 7: 119,423,002 (GRCm39) I278N probably damaging Het
Rims2 T A 15: 39,300,499 (GRCm39) S77T probably damaging Het
Sdk2 C T 11: 113,741,808 (GRCm39) A804T probably benign Het
Slc24a2 T A 4: 86,914,871 (GRCm39) I589F probably benign Het
Slc25a38 T A 9: 119,951,181 (GRCm39) I217K probably benign Het
Slc5a7 T C 17: 54,583,704 (GRCm39) T529A probably benign Het
Spata22 T A 11: 73,227,034 (GRCm39) S83T probably damaging Het
Spata31e4 A T 13: 50,854,414 (GRCm39) T91S possibly damaging Het
Stac2 A T 11: 97,934,324 (GRCm39) C127S possibly damaging Het
Tep1 T C 14: 51,062,259 (GRCm39) H2531R probably benign Het
Tmem151a G T 19: 5,132,061 (GRCm39) R382S probably damaging Het
Trim60 T C 8: 65,453,176 (GRCm39) T358A probably benign Het
Unc13c T A 9: 73,665,236 (GRCm39) M1048L probably benign Het
Usp29 T C 7: 6,965,074 (GRCm39) S306P probably damaging Het
Zfp26 T C 9: 20,356,203 (GRCm39) K35R probably benign Het
Zfp462 T A 4: 55,016,986 (GRCm39) probably null Het
Other mutations in Ccl12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01604:Ccl12 APN 11 81,994,059 (GRCm39) makesense probably null
IGL02327:Ccl12 APN 11 81,993,948 (GRCm39) missense possibly damaging 0.96
IGL02567:Ccl12 APN 11 81,993,447 (GRCm39) missense possibly damaging 0.89
R2121:Ccl12 UTSW 11 81,992,776 (GRCm39) missense probably damaging 1.00
R4924:Ccl12 UTSW 11 81,993,475 (GRCm39) missense probably benign 0.02
R5435:Ccl12 UTSW 11 81,994,001 (GRCm39) missense possibly damaging 0.51
R6188:Ccl12 UTSW 11 81,993,943 (GRCm39) missense probably damaging 1.00
R6885:Ccl12 UTSW 11 81,993,523 (GRCm39) missense probably damaging 0.96
R9353:Ccl12 UTSW 11 81,993,437 (GRCm39) missense possibly damaging 0.95
X0024:Ccl12 UTSW 11 81,993,953 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCCTGTGTCAGAAATTGATGGG -3'
(R):5'- GCTACATCTGTTTGACTTAAGACC -3'

Sequencing Primer
(F):5'- TGTCAGAAATTGATGGGATTTTTCC -3'
(R):5'- TTGACTTAAGACCATGAATCCAGAC -3'
Posted On 2016-07-06