Pear1 - SNV Details



 Gene Information 
Gene Name Pear1
Old Gene Names for Pear1 3110045g13rik
Gene Description platelet endothelial aggregation receptor 1 [Source:MGI Symbol;Acc:MGI:1920432]
Uniprot Name
CCDS Name
Gene GO
phagocytic cup; integral to membrane; recognition of apoptotic cell; protein binding; molecular_function
Homolog in other species PEAR1
Omim http://omim.org/entry/610278
Immgen Expression
MEDIAN(HIGH IN TGD GROUP, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, T.4MEM.SP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000028073
Chromosome 3
Coordinate 87,752,301     (Assembly: GRCm38)    
Ref Base G
Codon Change aCc/aTc
Var Base A
Zygosity Heterozygous
Read Depth 28
Allele Frequency
G:R0.57
A:V0.43
Amino Acid Position 742
Amino Acid Change T->I (Threonine -> Isoleucine)
Sample ID IGL01810
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 
Polyphen Score 0.92
Polyphen Prediction Possibly damaging
Sift Score 0.09
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved