Incidental Mutation 'IGL00553:Acr'
ID8553
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acr
Ensembl Gene ENSMUSG00000022622
Gene Nameacrosin prepropeptide
Synonymspreproacrosin
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.114) question?
Stock #IGL00553
Quality Score
Status
Chromosome15
Chromosomal Location89568326-89574585 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 89573250 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 234 (I234V)
Ref Sequence ENSEMBL: ENSMUSP00000023295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023295]
Predicted Effect probably benign
Transcript: ENSMUST00000023295
AA Change: I234V

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000023295
Gene: ENSMUSG00000022622
AA Change: I234V

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 unknown
Transcript: ENSMUST00000230538
AA Change: I186V
Predicted Effect unknown
Transcript: ENSMUST00000230978
AA Change: I197V
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid4a T C 12: 71,075,977 L1044P probably benign Het
Bcl9 A T 3: 97,207,202 D1035E probably damaging Het
Bptf G A 11: 107,055,279 T2263I possibly damaging Het
Eprs G T 1: 185,407,148 C910F probably benign Het
Glipr1 T C 10: 111,986,669 N47S possibly damaging Het
Ifi35 A G 11: 101,457,326 E86G probably damaging Het
Mx1 T A 16: 97,457,432 I22F probably damaging Het
Nr2f1 A G 13: 78,198,242 V111A probably damaging Het
Pdgfrb A T 18: 61,068,936 E524V probably benign Het
Rspo3 A G 10: 29,454,152 probably benign Het
Setdb2 C T 14: 59,415,792 V354M probably damaging Het
Slc28a3 A G 13: 58,563,009 probably null Het
Stau1 T C 2: 166,951,334 K294E possibly damaging Het
Susd3 A T 13: 49,231,138 *270R probably null Het
Ttc39b T C 4: 83,244,039 probably benign Het
Usf1 T C 1: 171,417,275 V169A probably damaging Het
Usp8 T C 2: 126,758,560 L1077P probably damaging Het
Vsnl1 A G 12: 11,332,189 F64L probably damaging Het
Zmiz1 T A 14: 25,572,070 M1K probably null Het
Other mutations in Acr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00857:Acr APN 15 89570002 missense probably benign 0.00
IGL01353:Acr APN 15 89569492 missense probably damaging 1.00
IGL01466:Acr APN 15 89573994 missense probably benign
IGL01599:Acr APN 15 89568414 missense probably benign 0.01
IGL02408:Acr APN 15 89570014 missense probably damaging 1.00
R0042:Acr UTSW 15 89574332 missense probably benign
R0398:Acr UTSW 15 89573941 missense probably damaging 1.00
R0520:Acr UTSW 15 89573227 missense probably damaging 1.00
R0578:Acr UTSW 15 89569475 missense probably damaging 1.00
R0579:Acr UTSW 15 89569475 missense probably damaging 1.00
R1167:Acr UTSW 15 89573974 missense probably damaging 1.00
R1792:Acr UTSW 15 89573143 missense probably benign 0.00
R2006:Acr UTSW 15 89574201 missense probably benign 0.00
R5531:Acr UTSW 15 89573943 missense probably damaging 1.00
R5577:Acr UTSW 15 89574238 missense probably benign 0.01
R7033:Acr UTSW 15 89569500 missense probably benign 0.03
R7206:Acr UTSW 15 89574171 missense probably benign
R7484:Acr UTSW 15 89573224 missense probably damaging 0.99
R7548:Acr UTSW 15 89574393 missense possibly damaging 0.72
Posted On2012-12-06