Mmrn2 - SNV Details



 Gene Information 
Gene Name Mmrn2
Old Gene Names for Mmrn2 Emilin5 , 1110013o17rik , Aa986839 , Emilin3
Gene Description elastin microfibril interfacer 3 [Source:MGI Symbol;Acc:MGI:2389142]
Uniprot Name
CCDS Name
Gene GO
cytoplasm; proteinaceous extracellular matrix; protein binding; biological_process; molecular_function
Homolog in other species EMILIN3
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000050700
Chromosome 2
Coordinate 160,908,729     (Assembly: GRCm38)    
Ref Base G
Var Base A
Zygosity Heterozygous
Read Depth 12
Allele Frequency
G:R0.42
A:V0.58
Amino Acid Change Q->Stop (Glutamine -> Stop)
Sample ID IGL03083
Median Base Quality 38.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 50 Other Mutations

 Predictions 
Polyphen Prediction N/A

 Availability Details 
Availability Cryopreserved