Incidental Mutation 'R8860:Acr'
ID 675629
Institutional Source Beutler Lab
Gene Symbol Acr
Ensembl Gene ENSMUSG00000022622
Gene Name acrosin prepropeptide
Synonyms preproacrosin
MMRRC Submission 068678-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R8860 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 89452549-89458790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 89458057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 246 (M246R)
Ref Sequence ENSEMBL: ENSMUSP00000023295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023295]
AlphaFold P23578
Predicted Effect probably damaging
Transcript: ENSMUST00000023295
AA Change: M246R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023295
Gene: ENSMUSG00000022622
AA Change: M246R

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 100% (45/45)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T G 12: 71,231,197 (GRCm39) V985G possibly damaging Het
Ago4 A T 4: 126,387,043 (GRCm39) D853E probably benign Het
Atf6 A T 1: 170,680,535 (GRCm39) F52L probably null Het
Blm A T 7: 80,144,276 (GRCm39) C782S probably benign Het
C2cd5 A G 6: 143,028,946 (GRCm39) Y98H probably benign Het
Ccdc106 A G 7: 5,062,570 (GRCm39) D192G probably benign Het
Celf2 A G 2: 6,565,468 (GRCm39) probably null Het
Chd1l A G 3: 97,477,685 (GRCm39) F690S probably benign Het
Chuk A G 19: 44,076,407 (GRCm39) S435P possibly damaging Het
Cisd3 T A 11: 97,576,703 (GRCm39) S10T probably benign Het
Cma2 G T 14: 56,210,574 (GRCm39) C143F probably damaging Het
Cmtm1 TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG 8: 105,036,334 (GRCm39) probably null Het
Cnppd1 A G 1: 75,113,063 (GRCm39) S402P probably damaging Het
Crtc1 A G 8: 70,840,805 (GRCm39) S474P probably damaging Het
Dhx38 A T 8: 110,289,361 (GRCm39) L13* probably null Het
Fat4 A T 3: 38,946,269 (GRCm39) T1721S probably benign Het
Fntb T A 12: 76,934,826 (GRCm39) V201E possibly damaging Het
Gga3 T C 11: 115,481,244 (GRCm39) D242G probably benign Het
Hif3a A T 7: 16,774,912 (GRCm39) M562K probably benign Het
Hnrnpc A G 14: 52,312,792 (GRCm39) S261P possibly damaging Het
Intu G A 3: 40,627,162 (GRCm39) M314I probably benign Het
Lims1 C T 10: 58,243,925 (GRCm39) Q126* probably null Het
Lrrc14b T A 13: 74,509,408 (GRCm39) D333V probably damaging Het
Meaf6 T A 4: 124,979,990 (GRCm39) L48Q probably damaging Het
Miip T A 4: 147,950,839 (GRCm39) probably benign Het
Myh4 T A 11: 67,132,335 (GRCm39) I155N probably damaging Het
Nnt T C 13: 119,476,407 (GRCm39) Y733C Het
Nup155 T C 15: 8,159,640 (GRCm39) V517A possibly damaging Het
Obscn C T 11: 58,898,440 (GRCm39) R6607Q unknown Het
Or2ak7 C T 11: 58,574,966 (GRCm39) T89I probably benign Het
Or51s1 A G 7: 102,558,336 (GRCm39) S237P probably benign Het
Ptprg T C 14: 12,213,685 (GRCm38) Y1018H probably damaging Het
Rdh8 A C 9: 20,734,021 (GRCm39) N69T probably benign Het
Rgsl1 G A 1: 153,697,100 (GRCm39) Q572* probably null Het
Septin7 A T 9: 25,163,980 (GRCm39) N16Y possibly damaging Het
Sparcl1 T C 5: 104,241,218 (GRCm39) N69D probably benign Het
Ssh3 A T 19: 4,317,992 (GRCm39) V41E probably damaging Het
Tmem253 A G 14: 52,256,303 (GRCm39) R168G probably benign Het
Vmn2r60 T A 7: 41,791,654 (GRCm39) F526I probably damaging Het
Vmn2r73 A T 7: 85,522,149 (GRCm39) probably benign Het
Vps4b A G 1: 106,710,414 (GRCm39) F156L possibly damaging Het
Zfp354c T A 11: 50,706,019 (GRCm39) H352L probably damaging Het
Zic2 A T 14: 122,713,530 (GRCm39) H148L possibly damaging 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
IGL01466:Acr APN 15 89,458,197 (GRCm39) missense probably benign
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
R9683:Acr UTSW 15 89,457,440 (GRCm39) nonsense probably null
Z1177:Acr UTSW 15 89,454,082 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- ATCTTATTGCAAGGCACCTCAGG -3'
(R):5'- GTGGCTGGCTGAATCAAGTG -3'

Sequencing Primer
(F):5'- TCCCAACGGATGTTTGCAG -3'
(R):5'- CTGGCTGAATCAAGTGCAAGGC -3'
Posted On 2021-07-15