Incidental Mutation 'R8325:Acr'
ID 644076
Institutional Source Beutler Lab
Gene Symbol Acr
Ensembl Gene ENSMUSG00000022622
Gene Name acrosin prepropeptide
Synonyms preproacrosin
MMRRC Submission 067857-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R8325 (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 C at 89453954 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 97 (V97A)
Ref Sequence ENSEMBL: ENSMUSP00000023295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023295]
AlphaFold P23578
Predicted Effect probably benign
Transcript: ENSMUST00000023295
AA Change: V97A

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000023295
Gene: ENSMUSG00000022622
AA Change: V97A

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
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000231216
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 100% (51/51)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn C T 4: 156,258,119 (GRCm39) G1081D probably benign Het
Ang2 A G 14: 51,432,960 (GRCm39) S141P probably damaging Het
Ap3b2 T C 7: 81,134,237 (GRCm39) probably null Het
Apba2 A T 7: 64,345,730 (GRCm39) T307S probably benign Het
Cadm2 T A 16: 66,612,338 (GRCm39) N84Y possibly damaging Het
Camsap1 T C 2: 25,829,375 (GRCm39) D783G probably benign Het
Ccdc62 T C 5: 124,092,448 (GRCm39) C478R probably benign Het
Cep290 A C 10: 100,353,670 (GRCm39) H801P probably benign Het
Chfr T A 5: 110,310,629 (GRCm39) Y555* probably null Het
Cmas T C 6: 142,717,065 (GRCm39) probably null Het
Cmtm7 T C 9: 114,592,415 (GRCm39) I61V probably benign Het
Cyb5d2 A G 11: 72,669,651 (GRCm39) S236P possibly damaging Het
Dcp1b C T 6: 119,192,397 (GRCm39) Q438* probably null Het
Dgcr8 T C 16: 18,076,149 (GRCm39) Q678R probably damaging Het
Emc1 T A 4: 139,092,521 (GRCm39) M487K possibly damaging Het
Gm7361 T C 5: 26,467,154 (GRCm39) S258P probably damaging Het
Hbs1l A G 10: 21,183,548 (GRCm39) I96M probably benign Het
Ifi27l2a G A 12: 103,409,144 (GRCm39) A49V unknown Het
Igkv10-96 T C 6: 68,609,088 (GRCm39) Y69C possibly damaging Het
Igsf10 A T 3: 59,225,954 (GRCm39) V2573D probably damaging Het
Kcng3 T C 17: 83,939,007 (GRCm39) N14S possibly damaging Het
Kif20a A G 18: 34,759,975 (GRCm39) T94A possibly damaging Het
Lcp2 T A 11: 34,032,394 (GRCm39) V324E probably benign Het
Lmod3 T C 6: 97,224,379 (GRCm39) K481E probably benign Het
Met A G 6: 17,571,671 (GRCm39) E1330G probably damaging Het
Mroh1 GCCCAGGCCCC GCC 15: 76,316,415 (GRCm39) probably null Het
Mss51 T C 14: 20,534,771 (GRCm39) D333G possibly damaging Het
Nav3 A G 10: 109,541,464 (GRCm39) V1933A probably benign Het
Nbas A G 12: 13,338,796 (GRCm39) Y212C probably damaging Het
Nkapd1 T C 9: 50,521,608 (GRCm39) I104M probably benign Het
Npsr1 C T 9: 24,198,118 (GRCm39) probably benign Het
Nt5e A G 9: 88,245,615 (GRCm39) E295G probably benign Het
Or6b1 T C 6: 42,815,124 (GRCm39) F103S probably damaging Het
Or9m1b A T 2: 87,836,537 (GRCm39) L186Q probably damaging Het
Papss1 A G 3: 131,288,372 (GRCm39) T136A probably benign Het
Pcdha1 A T 18: 37,063,867 (GRCm39) D177V possibly damaging Het
Pcolce2 A T 9: 95,574,973 (GRCm39) S308C probably damaging Het
Pdhx G T 2: 102,872,597 (GRCm39) P162T probably benign Het
Plin3 C T 17: 56,593,268 (GRCm39) R98Q probably benign Het
Prr36 T C 8: 4,262,982 (GRCm39) T895A probably benign Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Rnf213 A G 11: 119,321,271 (GRCm39) N1243S Het
Serpinb1b A T 13: 33,277,584 (GRCm39) K272N probably benign Het
Sez6l A T 5: 112,575,982 (GRCm39) probably null Het
Syne1 A T 10: 5,096,257 (GRCm39) M739K probably benign Het
Tbc1d9 G A 8: 83,966,667 (GRCm39) probably null Het
Trp53inp1 A G 4: 11,164,561 (GRCm39) D35G probably damaging Het
Trpc7 A G 13: 56,952,524 (GRCm39) V549A probably damaging Het
Usp18 T C 6: 121,230,769 (GRCm39) L66S probably damaging Het
Vmn1r238 C T 18: 3,122,529 (GRCm39) S295N probably benign Het
Vmn2r29 T C 7: 7,244,941 (GRCm39) D311G probably damaging Het
Vmn2r91 C A 17: 18,356,625 (GRCm39) A764D probably damaging Het
Wdfy4 T A 14: 32,689,444 (GRCm39) I3031F Het
Wdr7 A G 18: 63,911,535 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- AGGTCTCTAGGGTACTCTGAATGG -3'
(R):5'- GGACCCGCCTTAAAATGAGG -3'

Sequencing Primer
(F):5'- TCTCTAGGGTACTCTGAATGGAAAGG -3'
(R):5'- GGGTCCAATGAAGTTCCCACATG -3'
Posted On 2020-09-02