Incidental Mutation 'R5713:Ccl3'
ID 451005
Institutional Source Beutler Lab
Gene Symbol Ccl3
Ensembl Gene ENSMUSG00000000982
Gene Name C-C motif chemokine ligand 3
Synonyms Scya3, MIP1-(a), MIP1-alpha, MIP-1 alpha, MIP-1alpha, macrophage inflammatory protein-1alpha, G0S19-1, LD78alpha, Mip1a, CCL3
MMRRC Submission 043335-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5713 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 83538670-83540181 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 83540066 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 13 (C13Y)
Ref Sequence ENSEMBL: ENSMUSP00000001008 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001008] [ENSMUST00000182502]
AlphaFold P10855
Predicted Effect possibly damaging
Transcript: ENSMUST00000001008
AA Change: C13Y

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000001008
Gene: ENSMUSG00000000982
AA Change: C13Y

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
SCY 31 88 2.25e-30 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117199
Predicted Effect probably benign
Transcript: ENSMUST00000182502
SMART Domains Protein: ENSMUSP00000138342
Gene: ENSMUSG00000081906

DomainStartEndE-ValueType
Pfam:Ribosomal_L6 12 87 1.2e-16 PFAM
Pfam:Ribosomal_L6 119 177 6.8e-9 PFAM
Meta Mutation Damage Score 0.1533 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 98% (56/57)
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 that are clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins that function in inflammatory and immunoregulatory processes. The protein encoded by this gene binds to several chemokine receptors, including chemokine binding protein 2 and chemokine (C-C motif) receptor 5 (CCR5). CCR5 is a co-receptor for HIV, and binding of this protein to CCR5 inhibits HIV entry. The copy number of this gene varies among individuals, where most individuals have one to six copies, and a minority of individuals have zero or more than six copies. There are conflicting reports about copy number variation of this gene and its correlation to disease susceptibility.[provided by RefSeq, Apr 2014]
PHENOTYPE: Animals homozygous for a mutation in this gene exhibit resistance to Coxsackie virus-induced myocarditis and reduced pneumonitis following infection with influenza virus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 T A 3: 40,889,414 (GRCm39) Y431* probably null Het
Abtb3 A T 10: 85,487,516 (GRCm39) I995F probably damaging Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Arid1b C A 17: 5,387,091 (GRCm39) R1515S probably damaging Het
Atp5mc3 A G 2: 73,739,651 (GRCm39) V63A probably benign Het
Bmp6 C T 13: 38,682,928 (GRCm39) P473S probably damaging Het
Casp3 C A 8: 47,089,349 (GRCm39) T199K probably damaging Het
Cdc42bpa T C 1: 179,911,975 (GRCm39) S518P probably benign Het
Clic3 A T 2: 25,348,179 (GRCm39) I109F probably damaging Het
Dnah9 T A 11: 65,916,049 (GRCm39) D2301V possibly damaging Het
Gm26627 A G 6: 29,507,850 (GRCm39) probably benign Het
Gm4887 A T 7: 104,471,000 (GRCm39) noncoding transcript Het
Hc A C 2: 34,903,543 (GRCm39) I1037S probably damaging Het
Il2rb A G 15: 78,376,048 (GRCm39) M1T probably null Het
Ing5 T A 1: 93,740,452 (GRCm39) D124E probably benign Het
Jak2 A G 19: 29,248,793 (GRCm39) E90G probably damaging Het
Kalrn A T 16: 33,836,949 (GRCm39) I522N probably benign Het
Lipa A T 19: 34,500,832 (GRCm39) H71Q probably benign Het
Lmnb2 C T 10: 80,741,921 (GRCm39) V57M probably damaging Het
Mllt3 A T 4: 87,759,448 (GRCm39) M200K probably benign Het
Mtpap G A 18: 4,396,280 (GRCm39) S524N probably benign Het
Mup21 C G 4: 62,068,511 (GRCm39) E52Q probably damaging Het
Nasp A G 4: 116,471,558 (GRCm39) F90L probably benign Het
Nr1d1 T C 11: 98,661,237 (GRCm39) D343G probably benign Het
Otop2 T A 11: 115,219,870 (GRCm39) F237I probably damaging Het
Pax4 A G 6: 28,446,184 (GRCm39) I103T probably damaging Het
Pde4a T A 9: 21,114,813 (GRCm39) S430T probably damaging Het
Phf20l1 A G 15: 66,508,669 (GRCm39) N843D possibly damaging Het
Pla2g7 T A 17: 43,905,183 (GRCm39) M37K probably benign Het
Plcb3 T C 19: 6,935,060 (GRCm39) I864V probably damaging Het
Prr16 A G 18: 51,435,910 (GRCm39) T130A probably damaging Het
Rbm24 A G 13: 46,582,780 (GRCm39) D233G probably damaging Het
Rps29 C A 12: 69,205,502 (GRCm39) R32L probably benign Het
Serpind1 A G 16: 17,154,851 (GRCm39) E226G probably damaging Het
Siglecg A T 7: 43,058,226 (GRCm39) I38F probably damaging Het
Slc26a8 T A 17: 28,880,853 (GRCm39) M308L probably benign Het
Supv3l1 A G 10: 62,266,283 (GRCm39) V631A possibly damaging Het
Tcf12 T C 9: 71,792,545 (GRCm39) *58W probably null Het
Trgc2 T A 13: 19,491,515 (GRCm39) probably benign Het
Usp34 T A 11: 23,293,515 (GRCm39) V203E possibly damaging Het
Vmn2r108 A G 17: 20,691,290 (GRCm39) L411P probably damaging Het
Zfp874a A T 13: 67,597,476 (GRCm39) D42E probably benign Het
Other mutations in Ccl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00472:Ccl3 APN 11 83,539,467 (GRCm39) missense possibly damaging 0.80
R0549:Ccl3 UTSW 11 83,539,162 (GRCm39) missense probably damaging 1.00
R4583:Ccl3 UTSW 11 83,539,164 (GRCm39) missense probably benign 0.06
R5664:Ccl3 UTSW 11 83,540,039 (GRCm39) missense probably benign 0.02
R6680:Ccl3 UTSW 11 83,539,132 (GRCm39) missense probably benign
R9743:Ccl3 UTSW 11 83,539,428 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GTTAGACCCTTCCACACCATAG -3'
(R):5'- CATCATGACACCATTGCTGTGC -3'

Sequencing Primer
(F):5'- TAGACCCTTCCACACCATAGAGAGG -3'
(R):5'- ACCATTGCTGTGCTTAAAATTTTCC -3'
Posted On 2017-01-03