Emr1 - SNV Details



 Gene Information 
Gene Name Emr1
Old Gene Names for Emr1 Gpf480 , Ly71
Gene Description EGF-like module containing, mucin-like, hormone receptor-like sequence 1 [Source:MGI Symbol;Acc:MGI:106912]
MGI phenotype Homozygous null mice fail to develop peripheral tolerance after inoculation with antigen because of a lack of efferent regulatory T cell development.
Uniprot Name
CCDS Name
Gene GO
membrane; integral to membrane; transmembrane signaling receptor activity; neuropeptide signaling pathway; external side of plasma membrane; protein binding; G-protein coupled receptor activity; cell surface receptor signaling pathway; G-protein coupled receptor signaling pathway; calcium ion binding; cell periphery
Homolog in other species EMR1
Omim http://omim.org/entry/600493
Immgen Expression
LOW(HIGH IN MYELOID GROUP, DC.LC.SK, TGD.SP )
Gnf Expression
LOW/MEDIAN(HIGH IN IMM GROUP, OSTEO GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000004730
Chromosome 17
Coordinate 57,447,891     (Assembly: GRCm38)    
Ref Base C
Codon Change gCc/gTc
Var Base T
Zygosity Heterozygous
Read Depth 24
Allele Frequency
C:R0.58
T:V0.42
Amino Acid Position 663
Amino Acid Change A->V (Alanine -> Valine)
Sample ID IGL02260
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 44 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 1
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000083971:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
GPCR, family 2, secretin-like GPCR_2_secretin-like IPR000832 ENSMUSP00000083971 Pfam 646
885 Description available Search pathways
GPCR, family 2-like GPCR_2-like IPR017981 ENSMUSP00000083971 Prosite_profiles 647
893 Description available Search pathways

 Availability Details 
Availability Cryopreserved