Incidental Mutation 'IGL02567:Ccl12'
ID 298885
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccl12
Ensembl Gene ENSMUSG00000035352
Gene Name C-C motif chemokine ligand 12
Synonyms MCP-5, Scya12
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02567
Quality Score
Status
Chromosome 11
Chromosomal Location 81992671-81994225 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 81993447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 28 (S28R)
Ref Sequence ENSEMBL: ENSMUSP00000000194 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000194]
AlphaFold Q62401
Predicted Effect possibly damaging
Transcript: ENSMUST00000000194
AA Change: S28R

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000000194
Gene: ENSMUSG00000035352
AA Change: S28R

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
SCY 30 89 4.49e-30 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124916
Coding Region Coverage
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 C A 11: 53,263,578 (GRCm39) S199R possibly damaging Het
Ano1 A G 7: 144,165,362 (GRCm39) L621P probably damaging Het
Calcr C T 6: 3,691,564 (GRCm39) V404M probably damaging Het
Carmil3 A G 14: 55,736,339 (GRCm39) S635G possibly damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdhr3 T C 12: 33,088,900 (GRCm39) N761D probably benign Het
Col14a1 T C 15: 55,208,357 (GRCm39) probably null Het
Col28a1 T C 6: 8,014,819 (GRCm39) K862R possibly damaging Het
Cyp2c66 C T 19: 39,175,084 (GRCm39) probably benign Het
D5Ertd615e T C 5: 45,320,758 (GRCm39) noncoding transcript Het
Deup1 T C 9: 15,486,579 (GRCm39) E367G probably damaging Het
Dpp8 T G 9: 64,986,058 (GRCm39) Y849* probably null Het
Efhc1 T A 1: 21,043,188 (GRCm39) V369E probably damaging Het
Entrep2 T A 7: 64,436,479 (GRCm39) M101L possibly damaging Het
Epg5 A G 18: 78,076,288 (GRCm39) Y2562C probably damaging Het
Fbln5 A G 12: 101,728,059 (GRCm39) probably null Het
Frem1 A T 4: 82,918,292 (GRCm39) M551K probably damaging Het
Gba2 T C 4: 43,567,281 (GRCm39) S889G probably benign Het
Golph3 C T 15: 12,349,507 (GRCm39) R176* probably null Het
Got2 A T 8: 96,598,829 (GRCm39) F191Y probably benign Het
Gtf2ird2 G T 5: 134,241,890 (GRCm39) probably benign Het
H4c16 G A 6: 136,781,272 (GRCm39) R36W probably damaging Het
Hivep3 A G 4: 119,991,153 (GRCm39) T2218A probably damaging Het
Htr1f C T 16: 64,746,611 (GRCm39) G227D probably benign Het
Ifi202b C T 1: 173,791,370 (GRCm39) S436N possibly damaging Het
Nf1 T A 11: 79,437,969 (GRCm39) V2109D probably damaging Het
Opa1 C A 16: 29,407,104 (GRCm39) D29E probably benign Het
Papln C T 12: 83,825,611 (GRCm39) P631S probably benign Het
Pde4c T A 8: 71,200,570 (GRCm39) M352K probably benign Het
Pigu T C 2: 155,173,112 (GRCm39) T129A possibly damaging Het
Pla2g4c T A 7: 13,079,965 (GRCm39) H424Q probably damaging Het
Ptpn13 T G 5: 103,710,157 (GRCm39) L1564R probably damaging Het
Rbm5 T C 9: 107,621,473 (GRCm39) D642G probably damaging Het
Rnf111 T C 9: 70,366,287 (GRCm39) T384A probably damaging Het
Scn11a T C 9: 119,633,555 (GRCm39) T393A probably damaging Het
Sned1 A T 1: 93,202,069 (GRCm39) K619M probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Syt9 A G 7: 107,035,868 (GRCm39) Y295C probably damaging Het
Taar7f T A 10: 23,926,323 (GRCm39) Y306N probably damaging Het
Tmem107 T G 11: 68,961,845 (GRCm39) L25V possibly damaging Het
Wdr24 T G 17: 26,043,322 (GRCm39) I48S probably damaging Het
Zc3hc1 T C 6: 30,374,848 (GRCm39) D231G probably benign Het
Zfp142 T C 1: 74,617,309 (GRCm39) K341E possibly damaging Het
Zfp142 T A 1: 74,617,306 (GRCm39) S342C possibly damaging Het
Zfp142 T G 1: 74,617,308 (GRCm39) K341T possibly damaging Het
Zfp804b T A 5: 6,819,989 (GRCm39) I989L probably benign Het
Zfyve9 A C 4: 108,531,720 (GRCm39) V1095G probably damaging 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
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
R5171:Ccl12 UTSW 11 81,993,460 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16