Incidental Mutation 'R1833:Ccr1'
ID 204970
Institutional Source Beutler Lab
Gene Symbol Ccr1
Ensembl Gene ENSMUSG00000025804
Gene Name C-C motif chemokine receptor 1
Synonyms Cmkbr1
MMRRC Submission 039860-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R1833 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 123762163-123768729 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 123764126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 135 (I135F)
Ref Sequence ENSEMBL: ENSMUSP00000026911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026911]
AlphaFold P51675
Predicted Effect probably damaging
Transcript: ENSMUST00000026911
AA Change: I135F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026911
Gene: ENSMUSG00000025804
AA Change: I135F

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 45 316 5.1e-8 PFAM
Pfam:7tm_1 51 301 8.5e-52 PFAM
Meta Mutation Damage Score 0.8547 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.9%
Validation Efficiency 99% (83/84)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,350,509 (GRCm39) D143V unknown Het
4930438A08Rik C T 11: 58,179,214 (GRCm39) Q183* probably null Het
9230009I02Rik A G 11: 50,982,293 (GRCm39) noncoding transcript Het
Abhd12 T A 2: 150,690,338 (GRCm39) D119V probably damaging Het
Adam1b A G 5: 121,641,000 (GRCm39) I15T possibly damaging Het
Agtpbp1 A T 13: 59,613,797 (GRCm39) probably null Het
Arfgef1 G C 1: 10,275,115 (GRCm39) I312M probably benign Het
Arid4a C T 12: 71,122,240 (GRCm39) L874F possibly damaging Het
Bcas3 G A 11: 85,474,775 (GRCm39) V317I probably benign Het
Ces2h A G 8: 105,747,005 (GRCm39) E547G possibly damaging Het
Ces3b T A 8: 105,812,271 (GRCm39) D173E probably damaging Het
Chd3 A G 11: 69,244,949 (GRCm39) L1197S probably damaging Het
Cngb1 A G 8: 95,968,983 (GRCm39) L1175P probably damaging Het
Cyp4f17 T C 17: 32,743,184 (GRCm39) F286L probably benign Het
Dclre1a C T 19: 56,529,932 (GRCm39) probably null Het
Dennd6a T A 14: 26,328,109 (GRCm39) L44H probably damaging Het
Dhx16 A G 17: 36,196,511 (GRCm39) T560A probably benign Het
Dusp12 T C 1: 170,702,022 (GRCm39) M326V probably benign Het
Eif3k T C 7: 28,670,852 (GRCm39) I180V probably benign Het
Erc1 A G 6: 119,720,390 (GRCm39) I437T possibly damaging Het
Farp2 T A 1: 93,504,086 (GRCm39) probably benign Het
Foxa3 A G 7: 18,748,499 (GRCm39) L209P probably damaging Het
Garin2 G A 12: 78,762,280 (GRCm39) probably benign Het
Gen1 A T 12: 11,298,352 (GRCm39) probably benign Het
Gm10305 A G 4: 99,161,363 (GRCm39) T91A unknown Het
Gm14412 T C 2: 177,007,583 (GRCm39) D104G probably benign Het
Gm6900 T C 7: 10,390,515 (GRCm39) noncoding transcript Het
Gpx1 A T 9: 108,216,555 (GRCm39) Y15F possibly damaging Het
H2-M10.3 T C 17: 36,678,387 (GRCm39) Y146C probably damaging Het
H2-Q7 C A 17: 35,658,675 (GRCm39) S104R probably benign Het
Hephl1 T C 9: 14,988,224 (GRCm39) Y628C probably damaging Het
Hspa5 T A 2: 34,666,065 (GRCm39) Y636* probably null Het
Htt A G 5: 35,063,092 (GRCm39) probably benign Het
Idh1 T C 1: 65,200,273 (GRCm39) I364V probably benign Het
Itgae G T 11: 73,007,988 (GRCm39) A423S possibly damaging Het
Kng2 T C 16: 22,830,802 (GRCm39) N169S possibly damaging Het
Larp4b C T 13: 9,201,235 (GRCm39) T369I possibly damaging Het
Lcor T C 19: 41,573,387 (GRCm39) I714T probably benign Het
Lhfpl7 A G 5: 113,382,435 (GRCm39) probably benign Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Magi2 G T 5: 19,432,455 (GRCm39) G57C probably damaging Het
Mdn1 T A 4: 32,720,761 (GRCm39) H2291Q probably damaging Het
Mgam T C 6: 40,631,652 (GRCm39) probably null Het
Micall2 A G 5: 139,702,508 (GRCm39) V245A probably benign Het
Mipep T G 14: 61,109,512 (GRCm39) Y630D probably damaging Het
Msx2 A T 13: 53,622,221 (GRCm39) M263K probably damaging Het
Nectin2 G T 7: 19,451,633 (GRCm39) P467H probably damaging Het
Nek10 A T 14: 14,842,789 (GRCm38) M165L probably benign Het
Nlrp4b A T 7: 10,459,863 (GRCm39) M455L probably benign Het
Oaz3 TGGAGGCAGGAGCACGGGAGGCAGGAGCACGGGAGGCAG TGGAGGCAGGAGCACGGGAGGCAG 3: 94,343,349 (GRCm39) probably benign Het
Or10ad1b T A 15: 98,124,846 (GRCm39) I227F probably damaging Het
Or4c10 T A 2: 89,760,645 (GRCm39) L164* probably null Het
Pcx T A 19: 4,669,132 (GRCm39) V710E probably damaging Het
Pkn2 C T 3: 142,527,408 (GRCm39) R347Q probably damaging Het
Pramel51 T C 12: 88,145,218 (GRCm39) E44G possibly damaging Het
Qsox1 C T 1: 155,666,791 (GRCm39) G233S probably benign Het
Rbl1 T A 2: 157,037,475 (GRCm39) N224I probably damaging Het
Rspry1 A G 8: 95,362,116 (GRCm39) T132A probably damaging Het
Sclt1 A G 3: 41,681,546 (GRCm39) V91A probably damaging Het
Sema4f A T 6: 82,895,540 (GRCm39) L331H probably benign Het
Sf3b3 T A 8: 111,544,198 (GRCm39) Q814L probably benign Het
Slc19a2 T G 1: 164,089,753 (GRCm39) Y190D probably damaging Het
Smarcc1 T A 9: 109,982,879 (GRCm39) H204Q possibly damaging Het
Sox6 T C 7: 115,376,328 (GRCm39) K135E probably damaging Het
Tecpr1 T C 5: 144,145,426 (GRCm39) Q607R probably damaging Het
Tgfb1i1 A G 7: 127,848,670 (GRCm39) probably benign Het
Tirap T G 9: 35,099,999 (GRCm39) R228S probably benign Het
Trp53bp2 T A 1: 182,256,581 (GRCm39) H50Q probably damaging Het
Try4 A G 6: 41,280,365 (GRCm39) H63R probably damaging Het
Vmn2r25 G A 6: 123,816,643 (GRCm39) P313S probably benign Het
Vps26a A C 10: 62,294,825 (GRCm39) L250V probably benign Het
Vwf A G 6: 125,619,000 (GRCm39) H1226R probably benign Het
Wdtc1 TCC TC 4: 133,036,053 (GRCm39) probably benign Het
Zc3hav1l A T 6: 38,274,881 (GRCm39) probably benign Het
Zfp119b T G 17: 56,246,271 (GRCm39) H305P probably damaging Het
Zfp326 C T 5: 106,039,035 (GRCm39) Q134* probably null Het
Zfp975 C T 7: 42,311,263 (GRCm39) R450Q probably benign Het
Zfyve26 A T 12: 79,333,032 (GRCm39) M313K probably benign Het
Zscan5b T C 7: 6,241,965 (GRCm39) S395P 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
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
R4545:Ccr1 UTSW 9 123,764,437 (GRCm39) missense probably benign 0.11
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
(F):5'- CAGGCTCTTGTAGGGGAAATG -3'
(R):5'- TCATGCAGCATAGGAGGCTTC -3'

Sequencing Primer
(F):5'- CTCTTGTAGGGGAAATGAGGGCTAC -3'
(R):5'- AGCATGACCAGCATCTACCTGTTC -3'
Posted On 2014-06-23