Acr - SNV Details



 Gene Information 
Gene Name Acr
Old Gene Names for Acr Ai323726
Gene Description acrosin prepropeptide [Source:MGI Symbol;Acc:MGI:87884]
MGI phenotype Males homozygous for a targeted null mutation produce sperm that shows delayed fertilization in vitro. Sperm from mutant gonial cells are ineffective at fertilization in competition with normal sperm both in vitro and in vivo.
Uniprot Name
CCDS Name
Gene GO
acrosome reaction; response to steroid hormone stimulus; acrosome matrix dispersal; catalytic activity; drug binding; response to biotic stimulus; amidase activity; activation of adenylate cyclase activity; Golgi-associated vesicle; acrosomal vesicle; protein complex; protein binding; peptidase activity; acrosomal matrix; single fertilization; binding of sperm to zona pellucida; proteolysis; penetration of zona pellucida; serine-type endopeptidase activity; fucose binding; mannose binding
Homolog in other species ACR
Omim http://omim.org/entry/102480
Immgen Expression
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN(HIGH IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000022622
Chromosome 15
Coordinate 89,573,994     (Assembly: GRCm38)    
Ref Base A
Codon Change Aac/Gac
Var Base G
Zygosity Heterozygous
Read Depth 254
Allele Frequency
A:R0.48
G:V0.52
Amino Acid Position 293
Amino Acid Change N->D (Asparagine -> Aspartic acid)
Sample ID IGL01466
Median Base Quality 37
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 21 Other Mutations

 Predictions 
Polyphen Score 0.02
Polyphen Prediction Benign
Sift Score 0.17
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000023295:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Trypsin-like cysteine/serine peptidase domain Trypsin-like_Pept_dom IPR009003 ENSMUSP00000023295 Superfamily 29
294 Description available Search pathways
Peptidase S1A, acrosin Pept_S1A_acrosin IPR012267 ENSMUSP00000023295 PIRSF 4
436 Description available Search pathways

 Availability Details 
Availability Cryopreserved