Incidental Mutation 'IGL02625:Ccr4'
ID 301030
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccr4
Ensembl Gene ENSMUSG00000047898
Gene Name C-C motif chemokine receptor 4
Synonyms Cmkbr4, CC CKR-4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02625
Quality Score
Status
Chromosome 9
Chromosomal Location 114319384-114333984 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 114321401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tryptophan at position 221 (C221W)
Ref Sequence ENSEMBL: ENSMUSP00000150002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054414] [ENSMUST00000215425] [ENSMUST00000215959]
AlphaFold P51680
Predicted Effect probably damaging
Transcript: ENSMUST00000054414
AA Change: C221W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062677
Gene: ENSMUSG00000047898
AA Change: C221W

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
Pfam:7TM_GPCR_Srsx 50 319 2.9e-11 PFAM
Pfam:7tm_1 56 304 3.2e-49 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215425
AA Change: C221W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215959
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the G-protein-coupled receptor family . It is a receptor for the CC chemokine - MIP-1, RANTES, TARC and MCP-1. Chemokines are a group of small polypeptide, structurally related molecules that regulate cell trafficking of various types of leukocytes. The chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in decreased mortality, decreased tumor necrosis factor production, and decreased IL-1beta production following LPS administration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg6 T A 4: 99,634,584 (GRCm39) C109S probably damaging Het
Arhgdia C A 11: 120,471,039 (GRCm39) E53D probably benign Het
Ces2a G A 8: 105,466,910 (GRCm39) probably null Het
Chpf2 G T 5: 24,796,709 (GRCm39) E552* probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnmt1 C T 9: 20,838,442 (GRCm39) R207H probably benign Het
Dock2 A G 11: 34,451,168 (GRCm39) probably null Het
Esr1 A T 10: 4,951,346 (GRCm39) T575S probably benign Het
Fancc A G 13: 63,545,965 (GRCm39) C93R probably damaging Het
Foxj3 A T 4: 119,482,114 (GRCm39) R523W unknown Het
Fryl C T 5: 73,227,220 (GRCm39) probably benign Het
Fsip2 A C 2: 82,779,836 (GRCm39) H194P probably benign Het
Gaa G A 11: 119,165,559 (GRCm39) V350I probably damaging Het
Gpn3 T A 5: 122,519,257 (GRCm39) I152N probably damaging Het
H2-M10.3 T A 17: 36,678,417 (GRCm39) H136L probably benign Het
H4c16 C T 6: 136,781,335 (GRCm39) probably benign Het
Hspg2 A G 4: 137,239,953 (GRCm39) D507G probably damaging Het
Jcad A G 18: 4,674,422 (GRCm39) E728G probably benign Het
Kat14 G A 2: 144,244,365 (GRCm39) R406H possibly damaging Het
Kcnma1 G T 14: 23,413,900 (GRCm39) D863E probably damaging Het
Lrp1 A G 10: 127,410,355 (GRCm39) Y1464H probably damaging Het
Map4 T C 9: 109,893,485 (GRCm39) S584P probably damaging Het
Nlrp4f G A 13: 65,347,085 (GRCm39) L58F probably damaging Het
Nlrp6 A G 7: 140,503,413 (GRCm39) I506M probably benign Het
Nudt17 G A 3: 96,613,780 (GRCm39) R266W probably damaging Het
Or4a47 A G 2: 89,665,740 (GRCm39) L183P probably damaging Het
Or4a69 A G 2: 89,313,018 (GRCm39) S154P probably damaging Het
Or52h9 A G 7: 104,202,780 (GRCm39) Y218C probably damaging Het
Plcb4 A G 2: 135,803,714 (GRCm39) E529G probably benign Het
Prss32 A T 17: 24,075,210 (GRCm39) I187F possibly damaging Het
Prss55 A T 14: 64,316,818 (GRCm39) I108K probably damaging Het
Rcl1 A G 19: 29,095,741 (GRCm39) M109V probably benign Het
Rho A T 6: 115,912,158 (GRCm39) M207L possibly damaging Het
Slc12a1 A G 2: 125,012,611 (GRCm39) D291G probably damaging Het
Slco2b1 A C 7: 99,309,330 (GRCm39) probably null Het
Stx11 T A 10: 12,817,661 (GRCm39) D21V possibly damaging Het
Svep1 T A 4: 58,115,807 (GRCm39) Y962F possibly damaging Het
Tbx5 G T 5: 119,974,972 (GRCm39) probably benign Het
Tcf12 C A 9: 71,830,039 (GRCm39) G141W probably damaging Het
Tmtc2 A G 10: 105,206,407 (GRCm39) M296T probably damaging Het
Trim13 T A 14: 61,842,999 (GRCm39) S339T probably benign Het
Ugt1a7c A G 1: 88,023,239 (GRCm39) K133E possibly damaging Het
Usp40 A G 1: 87,877,739 (GRCm39) V1050A probably benign Het
Vmn2r86 T G 10: 130,288,781 (GRCm39) N240T probably damaging Het
Wdr36 T C 18: 32,992,314 (GRCm39) V617A possibly damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Wdr6 T C 9: 108,452,704 (GRCm39) Y393C probably damaging Het
Zfp619 A T 7: 39,183,609 (GRCm39) probably benign Het
Other mutations in Ccr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
kentucky UTSW 9 114,321,714 (GRCm39) missense probably damaging 1.00
P4748:Ccr4 UTSW 9 114,321,906 (GRCm39) missense probably damaging 1.00
PIT4651001:Ccr4 UTSW 9 114,321,261 (GRCm39) missense probably benign 0.08
R1117:Ccr4 UTSW 9 114,321,085 (GRCm39) missense probably benign 0.00
R1542:Ccr4 UTSW 9 114,321,073 (GRCm39) missense probably benign
R1954:Ccr4 UTSW 9 114,321,753 (GRCm39) missense probably damaging 0.99
R2047:Ccr4 UTSW 9 114,321,633 (GRCm39) missense probably damaging 1.00
R3157:Ccr4 UTSW 9 114,321,350 (GRCm39) missense probably benign 0.04
R3158:Ccr4 UTSW 9 114,321,350 (GRCm39) missense probably benign 0.04
R3159:Ccr4 UTSW 9 114,321,350 (GRCm39) missense probably benign 0.04
R4868:Ccr4 UTSW 9 114,321,901 (GRCm39) missense probably benign
R5051:Ccr4 UTSW 9 114,321,714 (GRCm39) missense probably damaging 1.00
R6102:Ccr4 UTSW 9 114,325,561 (GRCm39) splice site probably null
R6475:Ccr4 UTSW 9 114,322,047 (GRCm39) missense probably benign 0.00
R6661:Ccr4 UTSW 9 114,325,031 (GRCm39) intron probably benign
R7241:Ccr4 UTSW 9 114,322,024 (GRCm39) missense probably benign
R7394:Ccr4 UTSW 9 114,320,994 (GRCm39) missense probably benign
R8379:Ccr4 UTSW 9 114,321,235 (GRCm39) missense probably benign 0.00
R8683:Ccr4 UTSW 9 114,321,216 (GRCm39) missense probably damaging 1.00
R8746:Ccr4 UTSW 9 114,321,918 (GRCm39) missense probably damaging 1.00
R8902:Ccr4 UTSW 9 114,325,620 (GRCm39) intron probably benign
Z1177:Ccr4 UTSW 9 114,321,907 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16