Incidental Mutation 'IGL01599:Acr'
ID92054
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 #IGL01599
Quality Score
Status
Chromosome15
Chromosomal Location89568326-89574585 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 89568414 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 18 (V18A)
Ref Sequence ENSEMBL: ENSMUSP00000023295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023295]
Predicted Effect probably benign
Transcript: ENSMUST00000023295
AA Change: V18A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000023295
Gene: ENSMUSG00000022622
AA Change: V18A

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: V12A
Predicted Effect silent
Transcript: ENSMUST00000230978
Predicted Effect unknown
Transcript: ENSMUST00000231216
AA Change: V17A
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr3 T C 1: 90,214,134 V105A probably benign Het
Adgra2 G A 8: 27,118,733 A540T possibly damaging Het
Aldh16a1 A G 7: 45,142,093 F753L probably damaging Het
Ankfy1 T A 11: 72,738,365 Y338N probably benign Het
Aox3 C T 1: 58,169,794 R829C probably damaging Het
Arhgef11 T C 3: 87,737,046 S1535P probably benign Het
C4b A G 17: 34,743,019 probably benign Het
Ccdc157 A G 11: 4,148,781 C242R probably damaging Het
Cep135 T A 5: 76,593,347 M90K possibly damaging Het
Cfap36 A T 11: 29,244,057 probably null Het
Chl1 A G 6: 103,708,484 T829A probably benign Het
Copb2 T C 9: 98,581,150 S473P probably damaging Het
Cpb1 C T 3: 20,251,954 probably null Het
Cpsf1 A G 15: 76,596,541 L1295P probably damaging Het
Dmp1 C T 5: 104,212,462 Q335* probably null Het
Dyrk1a T A 16: 94,691,884 S621T possibly damaging Het
Exoc5 T A 14: 49,034,964 Q331L probably benign Het
Fmnl1 G A 11: 103,186,656 V287M probably damaging Het
Fras1 T C 5: 96,709,891 S2015P possibly damaging Het
Gm7052 T C 17: 22,040,004 probably benign Het
Gprc5c A G 11: 114,864,252 I252V probably benign Het
Ints3 C T 3: 90,394,322 probably null Het
L1td1 A G 4: 98,737,344 D592G probably damaging Het
Lamb3 A G 1: 193,343,412 M1137V probably benign Het
Leng8 C A 7: 4,145,482 A751E probably benign Het
Lfng T C 5: 140,612,535 V204A probably damaging Het
Lsm14b A G 2: 180,032,603 D233G probably damaging Het
Map4 C T 9: 110,034,768 P354S probably benign Het
Mapt G A 11: 104,294,915 V53M probably damaging Het
Mier1 T G 4: 103,155,541 S377A possibly damaging Het
Neurog1 T C 13: 56,251,847 D29G probably damaging Het
Npr3 G A 15: 11,895,789 A257V probably damaging Het
Nup188 T C 2: 30,327,525 V824A possibly damaging Het
Olfm4 T C 14: 80,021,310 S333P probably damaging Het
Olfr460 A C 6: 40,572,252 I289L probably damaging Het
Olfr849 T G 9: 19,441,815 F301V probably benign Het
Pbxip1 C A 3: 89,443,590 probably benign Het
Pde9a G T 17: 31,414,150 C38F probably damaging Het
Plb1 A T 5: 32,342,544 probably benign Het
Plcz1 T C 6: 140,002,256 probably benign Het
Plxnb1 T C 9: 109,110,604 V1447A probably damaging Het
Pnldc1 A T 17: 12,906,528 M73K probably benign Het
Psg20 C T 7: 18,681,038 V311M possibly damaging Het
Psmd2 G T 16: 20,659,405 probably null Het
Rabgap1 T C 2: 37,556,269 V859A probably damaging Het
Rad51b T A 12: 79,327,228 S194T probably benign Het
Rb1cc1 C T 1: 6,248,771 Q788* probably null Het
Ror2 C T 13: 53,111,617 G468R probably damaging Het
Slamf7 A G 1: 171,641,186 I46T possibly damaging Het
Stab2 A G 10: 86,922,895 S1060P probably damaging Het
Syndig1 T A 2: 150,003,283 V242E probably damaging Het
Tgfbr3 G A 5: 107,118,451 T801M probably damaging Het
Tmem132c T C 5: 127,359,552 probably benign Het
Trav21-dv12 T C 14: 53,876,731 Y103H probably damaging Het
Ubr3 T C 2: 69,938,178 V443A probably damaging Het
Uhrf2 G T 19: 30,092,120 C749F probably damaging Het
Ulk2 G T 11: 61,791,436 S751* probably null Het
Wrn G A 8: 33,241,011 P1098S possibly damaging Het
Xrcc5 T C 1: 72,346,349 V533A possibly damaging Het
Zc3h13 T C 14: 75,309,723 S223P probably damaging Het
Zcchc11 T C 4: 108,513,399 S871P possibly damaging Het
Other mutations in Acr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00553:Acr APN 15 89573250 missense probably benign 0.19
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
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
Posted On2013-12-09