Incidental Mutation 'R2121:Ccl12'
ID 231464
Institutional Source Beutler Lab
Gene Symbol Ccl12
Ensembl Gene ENSMUSG00000035352
Gene Name C-C motif chemokine ligand 12
Synonyms MCP-5, Scya12
MMRRC Submission 040125-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2121 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 81992671-81994225 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 81992776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 17 (S17R)
Ref Sequence ENSEMBL: ENSMUSP00000000194 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000194]
AlphaFold Q62401
Predicted Effect probably damaging
Transcript: ENSMUST00000000194
AA Change: S17R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000000194
Gene: ENSMUSG00000035352
AA Change: S17R

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (66/66)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 T A 17: 84,978,575 (GRCm39) E294D probably benign Het
Adnp2 A G 18: 80,172,385 (GRCm39) F675L probably benign Het
Akna G A 4: 63,295,137 (GRCm39) T1024I probably benign Het
Ambn T A 5: 88,608,617 (GRCm39) probably benign Het
Aox3 T C 1: 58,191,708 (GRCm39) probably benign Het
Arhgef10 A G 8: 14,984,820 (GRCm39) D200G probably damaging Het
Arhgef26 A T 3: 62,247,704 (GRCm39) N263Y probably damaging Het
Arpp21 A G 9: 111,965,738 (GRCm39) S375P probably damaging Het
Bscl2 G T 19: 8,817,146 (GRCm39) E25* probably null Het
Cdh1 A G 8: 107,390,842 (GRCm39) I653V probably benign Het
Ceacam9 T A 7: 16,455,928 (GRCm39) F12I probably benign Het
Cfap47 T C X: 78,553,927 (GRCm39) I267V probably benign Het
Cldn23 A G 8: 36,293,389 (GRCm39) V33A probably benign Het
Cog1 T C 11: 113,540,424 (GRCm39) L13P probably damaging Het
Col20a1 G C 2: 180,638,249 (GRCm39) A346P probably damaging Het
Col6a3 T C 1: 90,738,087 (GRCm39) D537G probably damaging Het
Ctnnd2 G A 15: 30,669,660 (GRCm39) R423H probably damaging Het
Cyp2a12 A G 7: 26,736,071 (GRCm39) *493W probably null Het
Dcdc2a T G 13: 25,303,268 (GRCm39) S266R possibly damaging Het
Diaph1 A T 18: 38,029,442 (GRCm39) M330K unknown Het
Dnah5 C T 15: 28,297,151 (GRCm39) probably benign Het
F13a1 T A 13: 37,209,653 (GRCm39) Y104F probably benign Het
Fam78b G A 1: 166,906,278 (GRCm39) V146M probably damaging Het
Fancl G T 11: 26,409,841 (GRCm39) probably benign Het
Gm10477 A G X: 55,570,192 (GRCm39) K31E probably damaging Het
Gstm7 T C 3: 107,834,230 (GRCm39) M175V probably benign Het
Hcn4 T C 9: 58,731,341 (GRCm39) S183P unknown Het
Heatr1 T C 13: 12,418,145 (GRCm39) V359A probably benign Het
Ikbkb T C 8: 23,157,233 (GRCm39) probably benign Het
Ints6l T A X: 55,550,228 (GRCm39) S718T probably benign Het
Kctd5 T C 17: 24,274,940 (GRCm39) T212A probably benign Het
Kdm3b T C 18: 34,929,833 (GRCm39) probably benign Het
Ltbp1 T A 17: 75,617,154 (GRCm39) V1031E possibly damaging Het
Lyst A G 13: 13,835,556 (GRCm39) Y1746C probably damaging Het
Mageb5 A G X: 90,823,701 (GRCm39) I226T probably damaging Het
Mdc1 C T 17: 36,158,835 (GRCm39) A405V probably benign Het
Mlc1 A G 15: 88,847,634 (GRCm39) Y305H probably benign Het
Mtcl2 T C 2: 156,875,245 (GRCm39) E835G probably damaging Het
Muc4 A G 16: 32,580,612 (GRCm39) Y2474C unknown Het
Mybphl A C 3: 108,282,492 (GRCm39) N175T probably damaging Het
Ncbp3 T C 11: 72,944,304 (GRCm39) V102A possibly damaging Het
Neb A G 2: 52,154,076 (GRCm39) F2345S probably damaging Het
Nlrp6 T C 7: 140,506,357 (GRCm39) V766A probably benign Het
Odad4 T A 11: 100,457,837 (GRCm39) probably null Het
Or7e173 T G 9: 19,938,797 (GRCm39) I146L probably benign Het
Or8j3 T A 2: 86,028,340 (GRCm39) Y252F possibly damaging Het
Palb2 T C 7: 121,727,004 (GRCm39) T289A possibly damaging Het
Pde10a A T 17: 9,196,047 (GRCm39) Q657L probably damaging Het
Ppp2r2a A T 14: 67,260,577 (GRCm39) F234I probably damaging Het
Prl3c1 T A 13: 27,383,325 (GRCm39) probably null Het
Psg20 T A 7: 18,414,947 (GRCm39) Y316F probably benign Het
Sap18 T A 14: 58,036,011 (GRCm39) S66T probably damaging Het
Serpina3m A G 12: 104,355,941 (GRCm39) M203V possibly damaging Het
Slc6a21 A T 7: 44,937,886 (GRCm39) I726F probably benign Het
Spmap2l A T 5: 77,208,605 (GRCm39) I378L probably benign Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Tfdp2 T C 9: 96,177,067 (GRCm39) S75P probably damaging Het
Tll1 T C 8: 64,538,591 (GRCm39) E351G probably benign Het
Tmed11 G A 5: 108,943,198 (GRCm39) probably benign Het
Tmem81 C A 1: 132,435,847 (GRCm39) Q218K probably benign Het
Tnfsf11 G A 14: 78,537,333 (GRCm39) T110I probably benign Het
Tub G A 7: 108,625,944 (GRCm39) G232S probably damaging Het
Vmn2r121 A T X: 123,043,439 (GRCm39) probably null Het
Vwa5b1 T C 4: 138,315,880 (GRCm39) T621A probably benign Het
Ythdf3 T C 3: 16,259,356 (GRCm39) F501S possibly 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
IGL02567:Ccl12 APN 11 81,993,447 (GRCm39) missense possibly damaging 0.89
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
Predicted Primers PCR Primer
(F):5'- AGCATAGTCCTGAGGCTCTTACC -3'
(R):5'- GGTGTCACGAAACATCACAGG -3'

Sequencing Primer
(F):5'- ACCTCATCCTTCCTTCTGTAGG -3'
(R):5'- ATCACAGGGCCTGGACTCAG -3'
Posted On 2014-09-18