Ccr5 - SNV Details



 Gene Information 
Gene Name Ccr5
Old Gene Names for Ccr5 Cmkbr5
Gene Description chemokine (C-C motif) receptor 5 [Source:MGI Symbol;Acc:MGI:107182]
MGI phenotype Mice that are homozygous for null alleles have leukocytes with defective migration and adhesion, are more susceptibility to fungal & bacterial infections, have increased length of allograft survival, and have decreased susceptibility to endotoxin shock.
Uniprot Name
CCDS Name
Gene GO
chemokine-mediated signaling pathway; chemotaxis; immune response; defense response; C-C chemokine binding; external side of plasma membrane; cell surface; integral component of membrane; inflammatory response; G-protein coupled receptor activity; G-protein coupled receptor signaling pathway; negative regulation of macrophage apoptotic process; C-C chemokine receptor activity
Homolog in other species CCR5
Omim http://omim.org/entry/601373
Immgen Expression
LOW(HIGH IN NK GROUP, TGD.VG5+.ACT.IEL)
Gnf Expression
LOW/MEDIAN(HIGH IN IMM GROUP, OSTEO GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000079227
Chromosome 9
Coordinate 124,124,588     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 55
Allele Frequency
T:R0.55
C:V0.46
Amino Acid Change I->T (Isoleucine -> Threonine)
Sample ID IGL00551
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 25 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved