Prmt5 - SNV Details



 Gene Information 
Gene Name Prmt5
Old Gene Names for Prmt5 Skb1
Gene Description protein arginine N-methyltransferase 5 [Source:MGI Symbol;Acc:MGI:1351645]
MGI phenotype Mice homozygous for a null allele display embryonic lethality before somite formation with failure of inner cell mass proliferation.
Uniprot Name
CCDS Name
Gene GO
protein methylation; chromatin binding; transcription
DNA-dependent; cytoplasm; protein-arginine omega-N symmetric methyltransferase activity; protein complex; protein binding; nucleus; ribonucleoprotein complex binding; peptidyl-arginine methylation
to symmetrical-dimethyl arginine; peptidyl-arginine methylation; methyltransferase activity; negative regulation of transcription from RNA polymerase II promoter; histone-arginine N-methyltransferase activity; endothelial cell activation; spliceosomal snRNP assembly; peptidyl-arginine N-methylation
Homolog in other species PRMT5
Immgen Expression
MEDIAN/HIGH(LOW IN MYELOID GROUP, HIGH IN BCELL GROUP, ABT GROUP)
Gnf Expression
HIGH(HIGHER IN IMM.G1, IMM.G3, AND EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000023110
Chromosome 14
Coordinate 54,509,877     (Assembly: GRCm38)    
Ref Base T
Codon Change tAc/tGc
Var Base C
Zygosity Heterozygous
Read Depth 71
Allele Frequency
T:R0.58
C:V0.42
Amino Acid Position 481
Amino Acid Change Y->C (Tyrosine -> Cysteine)
Sample ID IGL01309
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 57 Other Mutations

 Predictions 
Polyphen Score 0.93
Polyphen Prediction Possibly damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000023873:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Protein arginine N-methyltransferase Arg_MeTrfase IPR025799 ENSMUSP00000023873 Pfam 183
618 Description available Search pathways
Protein arginine N-methyltransferase PRMT5 Arg_MeTrfase_PRMT5 IPR007857 ENSMUSP00000023873 PIRSF 1
637 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved