Incidental Mutation 'R4545:Ccr1'
ID 333727
Institutional Source Beutler Lab
Gene Symbol Ccr1
Ensembl Gene ENSMUSG00000025804
Gene Name C-C motif chemokine receptor 1
Synonyms Cmkbr1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R4545 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 123762163-123768729 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 123764437 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 31 (A31V)
Ref Sequence ENSEMBL: ENSMUSP00000026911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026911]
AlphaFold P51675
Predicted Effect probably benign
Transcript: ENSMUST00000026911
AA Change: A31V

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000026911
Gene: ENSMUSG00000025804
AA Change: A31V

Pfam:7TM_GPCR_Srsx 45 316 5.1e-8 PFAM
Pfam:7tm_1 51 301 8.5e-52 PFAM
Meta Mutation Damage Score 0.2079 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 98% (41/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. The ligands of this receptor include macrophage inflammatory protein 1 alpha (MIP-1 alpha), regulated on activation normal T expressed and secreted protein (RANTES), monocyte chemoattractant protein 3 (MCP-3), and myeloid progenitor inhibitory factor-1 (MPIF-1). Chemokines and their receptors mediated signal transduction are critical for the recruitment of effector immune cells to the site of inflammation. Knockout studies of the mouse homolog suggested the roles of this gene in host protection from inflammatory response, and susceptibility to virus and parasite. This gene and other chemokine receptor genes, including CCR2, CCRL2, CCR3, CCR5 and CCXCR1, are found to form a gene cluster on chromosome 3p. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit altered trafficking and proliferation of myeloid progenitor cells, and impairments in granulomatous inflammation of the lung and neutrophil associated host defense. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c20 A C 13: 4,557,843 (GRCm39) V201G probably damaging Het
Atf7 A G 15: 102,442,762 (GRCm39) V449A probably benign Het
Chrna6 A T 8: 27,896,711 (GRCm39) S389T probably benign Het
Clic6 C T 16: 92,289,045 (GRCm39) probably benign Het
Cmya5 G A 13: 93,228,426 (GRCm39) R2221* probably null Het
Coq8b G T 7: 26,932,930 (GRCm39) C13F probably benign Het
Cspg4 T A 9: 56,795,913 (GRCm39) L1216Q possibly damaging Het
Decr1 C A 4: 15,930,979 (GRCm39) V118F probably damaging Het
Dlec1 A T 9: 118,957,146 (GRCm39) I796F probably damaging Het
Dnajc11 T A 4: 152,064,398 (GRCm39) D516E probably damaging Het
Dock8 G A 19: 25,165,722 (GRCm39) V1869M probably damaging Het
Dst A G 1: 34,227,819 (GRCm39) D1982G probably damaging Het
Gnptab G A 10: 88,250,457 (GRCm39) D190N probably benign Het
Golga4 A G 9: 118,385,913 (GRCm39) K22E probably damaging Het
Hecw2 T C 1: 53,852,381 (GRCm39) *1579W probably null Het
Ica1l A G 1: 60,052,977 (GRCm39) probably null Het
Ift122 T A 6: 115,867,549 (GRCm39) L433Q probably damaging Het
Iqgap1 T C 7: 80,412,315 (GRCm39) probably null Het
Klra13-ps T C 6: 130,268,232 (GRCm39) noncoding transcript Het
Mndal A T 1: 173,703,230 (GRCm39) Y58* probably null Het
Mvb12b G C 2: 33,717,712 (GRCm39) P172R possibly damaging Het
Ncapg T C 5: 45,828,554 (GRCm39) F102L probably damaging Het
Or1e30 T C 11: 73,677,992 (GRCm39) V76A probably damaging Het
Or5an11 T C 19: 12,246,188 (GRCm39) V198A possibly damaging Het
Or5b97 T A 19: 12,878,632 (GRCm39) K171* probably null Het
Pde8a A T 7: 80,977,847 (GRCm39) R713S probably damaging Het
Rbks T C 5: 31,781,912 (GRCm39) N296S probably benign Het
Sema3c G A 5: 17,899,770 (GRCm39) V421I probably benign Het
Tm9sf1 A G 14: 55,875,565 (GRCm39) V393A possibly damaging Het
Tubgcp2 G A 7: 139,575,984 (GRCm39) P893L possibly damaging Het
Uba52rt C T 4: 3,973,244 (GRCm39) R106H probably benign Het
Vnn3 G A 10: 23,732,224 (GRCm39) R158H probably benign Het
Zfa-ps G T 10: 52,421,032 (GRCm39) noncoding transcript Het
Zfp414 T C 17: 33,850,622 (GRCm39) probably benign Het
Zfp810 G A 9: 22,190,041 (GRCm39) T289I probably damaging Het
Zfp819 G T 7: 43,267,209 (GRCm39) R488L probably damaging Het
Zfp942 C T 17: 22,147,285 (GRCm39) G448D probably benign Het
Zscan12 A G 13: 21,550,875 (GRCm39) K165E possibly damaging Het
Other mutations in Ccr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Ccr1 APN 9 123,764,090 (GRCm39) missense probably benign 0.22
IGL00550:Ccr1 APN 9 123,763,673 (GRCm39) missense probably damaging 1.00
IGL00934:Ccr1 APN 9 123,763,777 (GRCm39) missense probably damaging 0.98
IGL01795:Ccr1 APN 9 123,764,149 (GRCm39) nonsense probably null
IGL02447:Ccr1 APN 9 123,763,753 (GRCm39) missense probably benign 0.01
PIT4431001:Ccr1 UTSW 9 123,764,231 (GRCm39) missense probably benign
PIT4466001:Ccr1 UTSW 9 123,763,765 (GRCm39) missense probably damaging 0.99
PIT4472001:Ccr1 UTSW 9 123,763,765 (GRCm39) missense probably damaging 0.99
R0900:Ccr1 UTSW 9 123,764,371 (GRCm39) missense possibly damaging 0.50
R0931:Ccr1 UTSW 9 123,763,827 (GRCm39) missense probably damaging 1.00
R1165:Ccr1 UTSW 9 123,763,531 (GRCm39) missense possibly damaging 0.51
R1386:Ccr1 UTSW 9 123,763,999 (GRCm39) missense probably benign 0.05
R1513:Ccr1 UTSW 9 123,764,510 (GRCm39) missense probably benign 0.00
R1615:Ccr1 UTSW 9 123,763,573 (GRCm39) missense probably benign 0.00
R1833:Ccr1 UTSW 9 123,764,126 (GRCm39) missense probably damaging 1.00
R1996:Ccr1 UTSW 9 123,763,551 (GRCm39) missense probably benign 0.41
R3833:Ccr1 UTSW 9 123,764,324 (GRCm39) missense possibly damaging 0.74
R4085:Ccr1 UTSW 9 123,763,987 (GRCm39) missense probably benign
R4745:Ccr1 UTSW 9 123,763,985 (GRCm39) missense probably benign 0.05
R5369:Ccr1 UTSW 9 123,764,326 (GRCm39) missense probably damaging 0.98
R5415:Ccr1 UTSW 9 123,764,413 (GRCm39) missense probably damaging 1.00
R5416:Ccr1 UTSW 9 123,764,413 (GRCm39) missense probably damaging 1.00
R6446:Ccr1 UTSW 9 123,764,143 (GRCm39) missense probably damaging 0.99
R7179:Ccr1 UTSW 9 123,764,089 (GRCm39) missense probably damaging 1.00
R7423:Ccr1 UTSW 9 123,764,422 (GRCm39) missense probably damaging 1.00
R8087:Ccr1 UTSW 9 123,764,371 (GRCm39) missense probably benign 0.00
R8258:Ccr1 UTSW 9 123,764,119 (GRCm39) missense probably damaging 1.00
R8259:Ccr1 UTSW 9 123,764,119 (GRCm39) missense probably damaging 1.00
R8339:Ccr1 UTSW 9 123,763,763 (GRCm39) missense probably damaging 1.00
R8729:Ccr1 UTSW 9 123,763,831 (GRCm39) missense probably benign 0.44
R8870:Ccr1 UTSW 9 123,764,022 (GRCm39) missense probably benign 0.00
R8936:Ccr1 UTSW 9 123,763,882 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-08-18