Mrc1 - SNV Details



 Gene Information 
Gene Name Mrc1
Old Gene Names for Mrc1 Aw259686
Gene Description mannose receptor, C type 1 [Source:MGI Symbol;Acc:MGI:97142]
MGI phenotype Male homozygotes for one targeted null mutation are reported to die in utero. Heterozygous females clear lutropin from the circulation more slowly and have smaller litters due to reduced implantation. Another targeted knockout is viable.
Uniprot Name
CCDS Name
Gene GO
endosome membrane; receptor activity; signal transduction; transmembrane signaling receptor activity; cell surface; integral component of membrane; carbohydrate binding; receptor-mediated endocytosis; plasma membrane; mannose binding
Homolog in other species MRC1
Omim http://omim.org/entry/153618
Immgen Expression
LOW(HIGH IN MYELOID GROUP, DC.LC.SK, TGD.SP )
Gnf Expression
MEDIAN/HIGH(HIGH IN RETINA, PITUITARY, DORSALROOTGANGLION, TRIGEMINAL, KIDNEY, LIVER, IMM.G1, IMM.G3, OSTEO GROUP, C2C12, UMBLICALCORD, NIH.3T3, EPITH GROUP, TRACHEA, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026712
Chromosome 2
Coordinate 14,331,101     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 13
Allele Frequency
A:R0.31
G:V0.69
Amino Acid Change N->D (Asparagine -> Aspartic acid)
Sample ID IGL03155
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 50 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved