Mrc2 - SNV Details



 Gene Information 
Gene Name Mrc2
Gene Description mannose receptor, C type 2 [Source:MGI Symbol;Acc:MGI:107818]
MGI phenotype Homozygous mice are visibly normal, viable and have no reproductive defects. Mouse embryonic fibroblasts derived from null mice exhibit decreased migration while bone marrow-derived macrophages exhibit increased migration.
Uniprot Name
CCDS Name
Gene GO
integral to membrane; cell surface; carbohydrate binding; plasma membrane; endocytosis; collagen binding
Homolog in other species MRC2
Omim http://omim.org/entry/612264
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
MEDIAN(HIGH IN RETINA, PITUITARY, DORSALROOTGANGLION, TRIGEMINAL, KIDNEY, LIVER, C2C12, UMBLICALCORD, NIH.3T3, OSTEOBLASTS, EPITH GROUP, IMM.G2, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020695
Chromosome 11
Coordinate 105,325,721     (Assembly: GRCm38)    
Ref Base A
Codon Change gAc/gGc
Var Base G
Zygosity Heterozygous
Read Depth 88
Allele Frequency
A:R0.44
G:V0.56
Amino Acid Position 112
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL02357
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 50 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability