Incidental Mutation 'IGL01466:Acr'
ID 88102
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acr
Ensembl Gene ENSMUSG00000022622
Gene Name acrosin prepropeptide
Synonyms preproacrosin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # IGL01466
Quality Score
Status
Chromosome 15
Chromosomal Location 89452549-89458790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89458197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 293 (N293D)
Ref Sequence ENSEMBL: ENSMUSP00000023295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023295]
AlphaFold P23578
Predicted Effect probably benign
Transcript: ENSMUST00000023295
AA Change: N293D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023295
Gene: ENSMUSG00000022622
AA Change: N293D

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Tryp_SPc 42 286 6.84e-91 SMART
low complexity region 300 311 N/A INTRINSIC
low complexity region 329 364 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000230538
Predicted Effect probably benign
Transcript: ENSMUST00000230978
Predicted Effect probably benign
Transcript: ENSMUST00000231216
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd49 A G 9: 14,692,645 (GRCm39) L173P probably damaging Het
Ccdc152 A G 15: 3,323,329 (GRCm39) probably benign Het
Cdh3 G T 8: 107,263,227 (GRCm39) R92L possibly damaging Het
Dnajc10 A T 2: 80,151,631 (GRCm39) R137S probably benign Het
Htra2 A G 6: 83,031,304 (GRCm39) L35P probably damaging Het
Il23r A T 6: 67,403,626 (GRCm39) M425K probably benign Het
Nfkb2 G T 19: 46,296,455 (GRCm39) R241L probably damaging Het
Nup205 A G 6: 35,176,894 (GRCm39) D630G probably benign Het
Or1j15 T A 2: 36,458,754 (GRCm39) L48H probably damaging Het
Peli2 T C 14: 48,493,914 (GRCm39) Y379H probably damaging Het
Plekhg6 G T 6: 125,349,587 (GRCm39) probably benign Het
Samd14 G T 11: 94,914,081 (GRCm39) probably benign Het
Setd7 A T 3: 51,428,730 (GRCm39) *367R probably null Het
Slc26a8 A G 17: 28,873,922 (GRCm39) V355A probably benign Het
Slc46a2 T A 4: 59,911,926 (GRCm39) K429* probably null Het
Styxl2 T G 1: 165,928,073 (GRCm39) D513A probably damaging Het
Tspan32 T C 7: 142,568,691 (GRCm39) probably benign Het
Unc80 T C 1: 66,661,645 (GRCm39) V1690A probably benign Het
Ush2a C A 1: 188,643,819 (GRCm39) Q4394K probably benign Het
Zfp277 C A 12: 40,428,825 (GRCm39) G174V probably benign Het
Other mutations in Acr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00553:Acr APN 15 89,457,453 (GRCm39) missense probably benign 0.19
IGL00857:Acr APN 15 89,454,205 (GRCm39) missense probably benign 0.00
IGL01353:Acr APN 15 89,453,695 (GRCm39) missense probably damaging 1.00
IGL01599:Acr APN 15 89,452,617 (GRCm39) missense probably benign 0.01
IGL02408:Acr APN 15 89,454,217 (GRCm39) missense probably damaging 1.00
R0042:Acr UTSW 15 89,458,535 (GRCm39) missense probably benign
R0398:Acr UTSW 15 89,458,144 (GRCm39) missense probably damaging 1.00
R0520:Acr UTSW 15 89,457,430 (GRCm39) missense probably damaging 1.00
R0578:Acr UTSW 15 89,453,678 (GRCm39) missense probably damaging 1.00
R0579:Acr UTSW 15 89,453,678 (GRCm39) missense probably damaging 1.00
R1167:Acr UTSW 15 89,458,177 (GRCm39) missense probably damaging 1.00
R1792:Acr UTSW 15 89,457,346 (GRCm39) missense probably benign 0.00
R2006:Acr UTSW 15 89,458,404 (GRCm39) missense probably benign 0.00
R5531:Acr UTSW 15 89,458,146 (GRCm39) missense probably damaging 1.00
R5577:Acr UTSW 15 89,458,441 (GRCm39) missense probably benign 0.01
R7033:Acr UTSW 15 89,453,703 (GRCm39) missense probably benign 0.03
R7206:Acr UTSW 15 89,458,374 (GRCm39) missense probably benign
R7484:Acr UTSW 15 89,457,427 (GRCm39) missense probably damaging 0.99
R7548:Acr UTSW 15 89,458,596 (GRCm39) missense possibly damaging 0.72
R8001:Acr UTSW 15 89,458,165 (GRCm39) missense probably damaging 1.00
R8325:Acr UTSW 15 89,453,954 (GRCm39) missense probably benign 0.22
R8852:Acr UTSW 15 89,458,057 (GRCm39) missense probably damaging 1.00
R8860:Acr UTSW 15 89,458,057 (GRCm39) missense probably damaging 1.00
R9683:Acr UTSW 15 89,457,440 (GRCm39) nonsense probably null
Z1177:Acr UTSW 15 89,454,082 (GRCm39) missense possibly damaging 0.89
Posted On 2013-11-18