Incidental Mutation 'IGL02567:Ccl12'
ID 298885
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccl12
Ensembl Gene ENSMUSG00000035352
Gene Name chemokine (C-C motif) ligand 12
Synonyms Scya12, MCP-5
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02567
Quality Score
Status
Chromosome 11
Chromosomal Location 82101845-82103400 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 82102621 bp (GRCm38)
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: 53,372,751 S199R possibly damaging Het
Ano1 A G 7: 144,611,625 L621P probably damaging Het
Calcr C T 6: 3,691,564 V404M probably damaging Het
Carmil3 A G 14: 55,498,882 S635G possibly damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cdhr3 T C 12: 33,038,901 N761D probably benign Het
Col14a1 T C 15: 55,344,961 probably null Het
Col28a1 T C 6: 8,014,819 K862R possibly damaging Het
Cyp2c66 C T 19: 39,186,640 probably benign Het
D5Ertd615e T C 5: 45,163,416 noncoding transcript Het
Deup1 T C 9: 15,575,283 E367G probably damaging Het
Dpp8 T G 9: 65,078,776 Y849* probably null Het
Efhc1 T A 1: 20,972,964 V369E probably damaging Het
Epg5 A G 18: 78,033,073 Y2562C probably damaging Het
Fam189a1 T A 7: 64,786,731 M101L possibly damaging Het
Fbln5 A G 12: 101,761,800 probably null Het
Frem1 A T 4: 83,000,055 M551K probably damaging Het
Gba2 T C 4: 43,567,281 S889G probably benign Het
Golph3 C T 15: 12,349,421 R176* probably null Het
Got2 A T 8: 95,872,201 F191Y probably benign Het
Gtf2ird2 G T 5: 134,213,048 probably benign Het
Hist4h4 G A 6: 136,804,274 R36W probably damaging Het
Hivep3 A G 4: 120,133,956 T2218A probably damaging Het
Htr1f C T 16: 64,926,248 G227D probably benign Het
Ifi202b C T 1: 173,963,804 S436N possibly damaging Het
Nf1 T A 11: 79,547,143 V2109D probably damaging Het
Opa1 C A 16: 29,588,286 D29E probably benign Het
Papln C T 12: 83,778,837 P631S probably benign Het
Pde4c T A 8: 70,747,921 M352K probably benign Het
Pigu T C 2: 155,331,192 T129A possibly damaging Het
Pla2g4c T A 7: 13,346,040 H424Q probably damaging Het
Ptpn13 T G 5: 103,562,291 L1564R probably damaging Het
Rbm5 T C 9: 107,744,274 D642G probably damaging Het
Rnf111 T C 9: 70,459,005 T384A probably damaging Het
Scn11a T C 9: 119,804,489 T393A probably damaging Het
Sned1 A T 1: 93,274,347 K619M probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Syt9 A G 7: 107,436,661 Y295C probably damaging Het
Taar7f T A 10: 24,050,425 Y306N probably damaging Het
Tmem107 T G 11: 69,071,019 L25V possibly damaging Het
Wdr24 T G 17: 25,824,348 I48S probably damaging Het
Zc3hc1 T C 6: 30,374,849 D231G probably benign Het
Zfp142 T A 1: 74,578,147 S342C possibly damaging Het
Zfp142 T G 1: 74,578,149 K341T possibly damaging Het
Zfp142 T C 1: 74,578,150 K341E possibly damaging Het
Zfp804b T A 5: 6,769,989 I989L probably benign Het
Zfyve9 A C 4: 108,674,523 V1095G probably damaging Het
Other mutations in Ccl12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01604:Ccl12 APN 11 82103233 makesense probably null
IGL02327:Ccl12 APN 11 82103122 missense possibly damaging 0.96
R2121:Ccl12 UTSW 11 82101950 missense probably damaging 1.00
R4924:Ccl12 UTSW 11 82102649 missense probably benign 0.02
R5171:Ccl12 UTSW 11 82102634 missense probably damaging 1.00
R5435:Ccl12 UTSW 11 82103175 missense possibly damaging 0.51
R6188:Ccl12 UTSW 11 82103117 missense probably damaging 1.00
R6885:Ccl12 UTSW 11 82102697 missense probably damaging 0.96
R9353:Ccl12 UTSW 11 82102611 missense possibly damaging 0.95
X0024:Ccl12 UTSW 11 82103127 missense probably benign 0.00
Posted On 2015-04-16