Incidental Mutation 'R9492:Acrbp'
ID 716993
Institutional Source Beutler Lab
Gene Symbol Acrbp
Ensembl Gene ENSMUSG00000072770
Gene Name proacrosin binding protein
Synonyms OY-TES-1, sp32
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R9492 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 125026890-125040228 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125038062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 421 (D421G)
Ref Sequence ENSEMBL: ENSMUSP00000085632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088294]
AlphaFold Q3V140
Predicted Effect probably benign
Transcript: ENSMUST00000088294
AA Change: D421G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000085632
Gene: ENSMUSG00000072770
AA Change: D421G

DomainStartEndE-ValueType
Pfam:PBP_sp32 1 239 1.6e-139 PFAM
KAZAL 466 506 1.42e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136100
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to proacrosin binding protein sp32 precursor found in mouse, guinea pig, and pig. This protein is located in the sperm acrosome and is thought to function as a binding protein to proacrosin for packaging and condensation of the acrosin zymogen in the acrosomal matrix. This protein is a member of the cancer/testis family of antigens and it is found to be immunogenic. In normal tissues, this mRNA is expressed only in testis, whereas it is detected in a range of different tumor types such as bladder, breast, lung, liver, and colon. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in delayed fertilization due to a delay in sperm penetration of the zona pellucida. Homozygous sperm also show reduced fertilization rates of oocytes with a thick or hardened zona pellucida. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik A C 1: 120,078,472 (GRCm39) K43T probably damaging Het
Abca12 A G 1: 71,297,380 (GRCm39) V2370A possibly damaging Het
Abca13 T A 11: 9,243,667 (GRCm39) C1843* probably null Het
Abr C T 11: 76,399,751 (GRCm39) S82N probably benign Het
Acot2 T C 12: 84,039,384 (GRCm39) S298P probably benign Het
Adam25 A T 8: 41,206,736 (GRCm39) M1L probably benign Het
Ano8 A G 8: 71,934,784 (GRCm39) V441A possibly damaging Het
Aoc1l1 T C 6: 48,955,540 (GRCm39) S717P probably benign Het
Atg2b T C 12: 105,624,549 (GRCm39) H650R probably benign Het
Atp11a C T 8: 12,894,490 (GRCm39) T695I probably damaging Het
AU018091 A G 7: 3,214,023 (GRCm39) S74P probably benign Het
Cadps2 A G 6: 23,427,238 (GRCm39) Y597H probably benign Het
Ccdc15 C T 9: 37,215,665 (GRCm39) E619K probably damaging Het
Ceacam11 G T 7: 17,709,468 (GRCm39) C222F probably benign Het
Cmya5 T C 13: 93,177,822 (GRCm39) *3677W probably null Het
Col11a1 G C 3: 114,005,752 (GRCm39) C1628S probably benign Het
Dhx8 T C 11: 101,654,808 (GRCm39) I1032T possibly damaging Het
Dpp10 T C 1: 123,281,159 (GRCm39) D630G probably damaging Het
Eci3 C T 13: 35,143,976 (GRCm39) G50R probably benign Het
Eif2a A G 3: 58,448,475 (GRCm39) T103A probably benign Het
Frem1 T C 4: 82,920,057 (GRCm39) E432G probably damaging Het
Gdnf C T 15: 7,840,423 (GRCm39) probably benign Het
Hace1 T A 10: 45,547,230 (GRCm39) M471K probably benign Het
Hydin A G 8: 111,326,877 (GRCm39) T4739A possibly damaging Het
Ilf2 A G 3: 90,394,570 (GRCm39) I320V probably benign Het
Iqgap3 C A 3: 88,016,176 (GRCm39) F986L probably damaging Het
Klhl21 T C 4: 152,093,419 (GRCm39) L7S probably benign Het
Lrrc61 G T 6: 48,545,761 (GRCm39) E195* probably null Het
Maz G T 7: 126,622,292 (GRCm39) A443E possibly damaging Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Mtor T A 4: 148,568,801 (GRCm39) L1107Q probably damaging Het
Nectin3 T C 16: 46,215,511 (GRCm39) H494R probably benign Het
Nlgn1 G T 3: 25,488,480 (GRCm39) Y618* probably null Het
Nup98 C T 7: 101,778,252 (GRCm39) E1372K probably benign Het
Or12e9 A G 2: 87,201,960 (GRCm39) N28S probably benign Het
Or5af1 T C 11: 58,722,610 (GRCm39) V210A probably benign Het
Otud6b A G 4: 14,818,349 (GRCm39) I184T probably damaging Het
Pcsk6 A G 7: 65,697,346 (GRCm39) N891S probably benign Het
Pde4a T A 9: 21,106,096 (GRCm39) L237Q probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pou3f1 A G 4: 124,552,179 (GRCm39) H227R possibly damaging Het
Prss53 G A 7: 127,488,802 (GRCm39) R31C probably damaging Het
Psmb8 T A 17: 34,417,435 (GRCm39) D21E probably benign Het
Ptprq A G 10: 107,478,813 (GRCm39) Y1277H probably damaging Het
Rexo2 T C 9: 48,380,176 (GRCm39) T219A probably benign Het
Rfc3 A G 5: 151,566,411 (GRCm39) F346S probably damaging Het
Rhoq A T 17: 87,304,373 (GRCm39) Q168L Het
Sgk1 A G 10: 21,874,096 (GRCm39) N452S probably damaging Het
Slc35f3 A G 8: 127,048,026 (GRCm39) K122R probably damaging Het
Slc4a2 T A 5: 24,644,761 (GRCm39) M1021K probably benign Het
Sorcs2 A G 5: 36,186,484 (GRCm39) V886A probably benign Het
Spata20 T A 11: 94,374,444 (GRCm39) M308L probably damaging Het
Spen A T 4: 141,199,098 (GRCm39) H3176Q probably benign Het
Stat5b T A 11: 100,692,361 (GRCm39) H141L probably benign Het
Syne2 T A 12: 75,995,839 (GRCm39) H2126Q possibly damaging Het
Traj46 A G 14: 54,409,851 (GRCm39) T20A Het
Trim30a G T 7: 104,078,330 (GRCm39) Q249K probably damaging Het
Trmt13 A G 3: 116,388,281 (GRCm39) Y52H probably benign Het
Trpv3 A G 11: 73,187,267 (GRCm39) I700V probably damaging Het
Tyr G A 7: 87,121,704 (GRCm39) H363Y probably damaging Het
Tyr C G 7: 87,121,705 (GRCm39) M362I possibly damaging Het
Ubb G A 11: 62,442,984 (GRCm39) V5M probably damaging Het
Unc5a T C 13: 55,150,288 (GRCm39) L519P probably damaging Het
Uso1 A G 5: 92,315,191 (GRCm39) D185G possibly damaging Het
Vmn1r228 C T 17: 20,996,862 (GRCm39) E219K probably damaging Het
Wdr49 A G 3: 75,240,669 (GRCm39) V400A probably damaging Het
Zfp292 A G 4: 34,810,794 (GRCm39) M755T probably benign Het
Other mutations in Acrbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00096:Acrbp APN 6 125,027,477 (GRCm39) missense probably damaging 1.00
IGL01656:Acrbp APN 6 125,030,675 (GRCm39) missense possibly damaging 0.88
IGL02095:Acrbp APN 6 125,030,919 (GRCm39) nonsense probably null
IGL02186:Acrbp APN 6 125,031,773 (GRCm39) splice site probably null
IGL02473:Acrbp APN 6 125,031,661 (GRCm39) missense probably benign
IGL02831:Acrbp APN 6 125,038,212 (GRCm39) missense possibly damaging 0.89
IGL03110:Acrbp APN 6 125,039,436 (GRCm39) missense probably damaging 0.99
R0071:Acrbp UTSW 6 125,027,915 (GRCm39) unclassified probably benign
R0071:Acrbp UTSW 6 125,027,915 (GRCm39) unclassified probably benign
R0279:Acrbp UTSW 6 125,030,917 (GRCm39) critical splice donor site probably null
R0483:Acrbp UTSW 6 125,031,759 (GRCm39) missense possibly damaging 0.61
R1017:Acrbp UTSW 6 125,038,223 (GRCm39) splice site probably benign
R1486:Acrbp UTSW 6 125,027,585 (GRCm39) missense probably damaging 1.00
R4679:Acrbp UTSW 6 125,037,881 (GRCm39) missense probably damaging 0.96
R4898:Acrbp UTSW 6 125,027,501 (GRCm39) missense probably damaging 0.97
R4987:Acrbp UTSW 6 125,030,725 (GRCm39) missense probably benign 0.23
R5249:Acrbp UTSW 6 125,037,885 (GRCm39) missense probably damaging 0.98
R5458:Acrbp UTSW 6 125,027,013 (GRCm39) unclassified probably benign
R5579:Acrbp UTSW 6 125,038,062 (GRCm39) missense probably benign 0.00
R6491:Acrbp UTSW 6 125,028,442 (GRCm39) unclassified probably benign
R7643:Acrbp UTSW 6 125,030,795 (GRCm39) missense possibly damaging 0.92
R8217:Acrbp UTSW 6 125,037,921 (GRCm39) missense probably damaging 0.99
R9167:Acrbp UTSW 6 125,039,942 (GRCm39) missense probably damaging 1.00
R9280:Acrbp UTSW 6 125,039,938 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- CATTCTGCTCCCTGAAGCTG -3'
(R):5'- AAGAGGGTCTGACCTTGGTG -3'

Sequencing Primer
(F):5'- GAAGTGTGACGCTTCCCACAAG -3'
(R):5'- CTGACCTTGGTGGGGAAATCC -3'
Posted On 2022-07-18