Serpinb2 - SNV Details



 Gene Information 
Gene Name Serpinb2
Old Gene Names for Serpinb2 Planh2
Gene Description serine (or cysteine) peptidase inhibitor, clade B, member 2 [Source:MGI Symbol;Acc:MGI:97609]
MGI phenotype Mice homozygous for a knock-out allele exhibit a slight to mild reduction in platelets, leukocytes, lymphocytes, neutrophils, and monocytes numbers.
Uniprot Name
CCDS Name
Gene GO
Golgi apparatus
cytoplasm
extracellular region
extracellular space
peptidase inhibitor activity
serine-type endopeptidase inhibitor activity
wound healing
Homolog in other species SERPINB2
Omim http://omim.org/entry/173390
Immgen Expression
LOW(HIGH IN DC.LC.SK)
Gnf Expression
LOW(HIGH IN RETINA, UMBLICALCORD. EPIDERMIS TISSUES, TRACHEA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000062345
Chromosome 1
Coordinate 107,523,070     (Assembly: GRCm38)    
Ref Base A
Codon Change Atc/Gtc
Var Base G
Zygosity Heterozygous
Read Depth 34
Allele Frequency
A:0.68
G:0.32
Amino Acid Position 181
Amino Acid Change I->V (Isoleucine -> Valine)
Sample ID IGL00870
Median Base Quality 37.5
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.01
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000009356:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Serpin domain Serpin_dom IPR023796 ENSMUSP00000009356 Smart 13
415 Description available Search pathways
Serpin domain Serpin_dom IPR023796 ENSMUSP00000009356 Pfam 7
415 Description available Search pathways
Serpin domain Serpin_dom IPR023796 ENSMUSP00000009356 Superfamily 1
415 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved