|Institutional Source||Beutler Lab|
|Gene Name||acrosin prepropeptide|
|Is this an essential gene?||Probably non essential (E-score: 0.130)|
|Stock #||R0579 (G1)|
|Chromosomal Location||89568326-89574585 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to G at 89569475 bp|
|Amino Acid Change||Histidine to Glutamine at position 72 (H72Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023295 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023295]|
|Predicted Effect||probably damaging
AA Change: H72Q
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: H72Q
AA Change: H24Q
AA Change: H35Q
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.7403|
|Coding Region Coverage||
|Validation Efficiency||89% (34/38)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Acrosin is the major proteinase present in the acrosome of mature spermatozoa. It is a typical serine proteinase with trypsin-like specificity. It is stored in the acrosome in its precursor form, proacrosin. The active enzyme functions in the lysis of the zona pellucida, thus facilitating penetration of the sperm through the innermost glycoprotein layers of the ovum. The mRNA for proacrosin is synthesized only in the postmeiotic stages of spermatogenesis. In humans proacrosin first appears in the haploid spermatids. [provided by RefSeq, Jul 2008]
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. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Acr||
(F):5'- TTAGGCTGCCTCTCCTACCCTAAAG -3'
(R):5'- TTGTGCTCCGAAAACCAGTCTCC -3'
(F):5'- GTACAAAGACTGGATGGCTCTTC -3'
(R):5'- GTCGGACTCATTCACAGACTG -3'