Incidental Mutation 'IGL02186:Acrbp'
ID 283676
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acrbp
Ensembl Gene ENSMUSG00000072770
Gene Name proacrosin binding protein
Synonyms OY-TES-1, sp32
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # IGL02186
Quality Score
Status
Chromosome 6
Chromosomal Location 125026890-125040228 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to T at 125031773 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000085632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032481] [ENSMUST00000088294] [ENSMUST00000112413] [ENSMUST00000112414]
AlphaFold Q3V140
Predicted Effect probably benign
Transcript: ENSMUST00000032481
SMART Domains Protein: ENSMUSP00000032481
Gene: ENSMUSG00000072770

DomainStartEndE-ValueType
Pfam:PBP_sp32 1 140 4.8e-78 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000088294
SMART Domains Protein: ENSMUSP00000085632
Gene: ENSMUSG00000072770

DomainStartEndE-ValueType
Pfam:PBP_sp32 1 239 1.6e-139 PFAM
KAZAL 466 506 1.42e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000112412
SMART Domains Protein: ENSMUSP00000108031
Gene: ENSMUSG00000072770

DomainStartEndE-ValueType
Pfam:PBP_sp32 1 87 6.5e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112413
SMART Domains Protein: ENSMUSP00000108032
Gene: ENSMUSG00000072770

DomainStartEndE-ValueType
Pfam:PBP_sp32 1 169 6.2e-100 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112414
SMART Domains Protein: ENSMUSP00000108033
Gene: ENSMUSG00000072770

DomainStartEndE-ValueType
Pfam:PBP_sp32 1 239 1.9e-138 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124159
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140883
SMART Domains Protein: ENSMUSP00000118561
Gene: ENSMUSG00000030330

DomainStartEndE-ValueType
Pfam:ING 5 107 1e-34 PFAM
low complexity region 118 131 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205110
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203287
Coding Region Coverage
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130230L23Rik A G 5: 66,145,811 (GRCm39) F100S unknown Het
Abca3 A G 17: 24,596,714 (GRCm39) Y389C possibly damaging Het
Adam21 G A 12: 81,605,983 (GRCm39) T593I possibly damaging Het
Adipor1 T A 1: 134,353,698 (GRCm39) M161K probably benign Het
Agrp A T 8: 106,293,821 (GRCm39) N48K probably benign Het
Asprv1 A T 6: 86,605,900 (GRCm39) M249L probably damaging Het
Begain A G 12: 108,999,278 (GRCm39) Y703H probably damaging Het
Bspry T A 4: 62,414,226 (GRCm39) probably benign Het
Cct8l1 T G 5: 25,721,836 (GRCm39) S184A probably benign Het
Cdk13 C T 13: 17,947,112 (GRCm39) V549I probably benign Het
Cdyl2 C T 8: 117,306,025 (GRCm39) R412Q possibly damaging Het
Celf6 T C 9: 59,510,808 (GRCm39) S205P probably damaging Het
Cltc G A 11: 86,595,811 (GRCm39) A1263V possibly damaging Het
Cltc C A 11: 86,595,812 (GRCm39) A1263S possibly damaging Het
Ctnnd2 T A 15: 30,480,939 (GRCm39) F62L probably damaging Het
Dlec1 T A 9: 118,972,695 (GRCm39) C1473S probably benign Het
Dmbt1 T A 7: 130,694,986 (GRCm39) probably benign Het
Dnase1 G A 16: 3,856,896 (GRCm39) V176I probably benign Het
Dusp1 G T 17: 26,726,032 (GRCm39) Y220* probably null Het
Enpp3 A C 10: 24,667,881 (GRCm39) probably benign Het
Exosc10 T C 4: 148,649,755 (GRCm39) L395P probably damaging Het
Fn1 T C 1: 71,677,693 (GRCm39) K533R probably damaging Het
Gcm2 T A 13: 41,258,125 (GRCm39) T168S possibly damaging Het
Gm9924 C A 5: 31,252,491 (GRCm39) probably benign Het
Ifrd1 A G 12: 40,264,092 (GRCm39) V101A probably benign Het
Iqsec1 G T 6: 90,653,859 (GRCm39) Q629K probably damaging Het
Kcnma1 T A 14: 23,576,881 (GRCm39) M254L probably benign Het
Krit1 T C 5: 3,859,733 (GRCm39) probably benign Het
Letm1 T C 5: 33,902,391 (GRCm39) K633E probably benign Het
Mfsd1 A G 3: 67,503,928 (GRCm39) I307V probably benign Het
Mtrr T C 13: 68,712,476 (GRCm39) T637A probably benign Het
Naxe C A 3: 87,964,305 (GRCm39) D212Y probably damaging Het
Nlk A T 11: 78,477,762 (GRCm39) V327D probably damaging Het
Or2f1b A G 6: 42,739,880 (GRCm39) K298R probably null Het
Or5w11 A T 2: 87,459,715 (GRCm39) I187F probably benign Het
Pdzd8 C T 19: 59,289,060 (GRCm39) G780D probably damaging Het
Prune1 T C 3: 95,166,548 (GRCm39) probably benign Het
Qser1 A T 2: 104,618,606 (GRCm39) H645Q probably damaging Het
Rd3l A G 12: 111,945,901 (GRCm39) Y193H probably benign Het
Reln A G 5: 22,114,956 (GRCm39) Y3119H probably damaging Het
Scel C T 14: 103,802,257 (GRCm39) A219V probably benign Het
Skint11 A T 4: 114,101,833 (GRCm39) Q91L possibly damaging Het
Slc39a10 G A 1: 46,857,288 (GRCm39) A696V probably damaging Het
Slc5a5 C A 8: 71,338,764 (GRCm39) D516Y possibly damaging Het
Slc8b1 G A 5: 120,665,928 (GRCm39) probably null Het
Slc9a3 A G 13: 74,311,233 (GRCm39) E576G possibly damaging Het
Slco1b2 A T 6: 141,580,271 (GRCm39) probably benign Het
Smc5 A G 19: 23,209,223 (GRCm39) V647A probably damaging Het
Snph T C 2: 151,436,263 (GRCm39) N222D possibly damaging Het
Srbd1 A G 17: 86,416,659 (GRCm39) F500L probably benign Het
Stxbp6 T C 12: 44,948,806 (GRCm39) D101G probably damaging Het
Taar7b A G 10: 23,875,879 (GRCm39) I15V probably benign Het
Tdrd12 G T 7: 35,200,826 (GRCm39) N338K probably damaging Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Tmem219 A T 7: 126,495,988 (GRCm39) D128E probably benign Het
Togaram2 A G 17: 71,992,166 (GRCm39) T3A possibly damaging Het
Ttn C T 2: 76,724,627 (GRCm39) probably benign Het
Uchl1 C A 5: 66,834,382 (GRCm39) C47* probably null Het
Unc79 T G 12: 102,977,542 (GRCm39) S182A probably benign Het
Vmn2r1 A G 3: 63,989,138 (GRCm39) T26A probably benign Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Vps54 T C 11: 21,256,947 (GRCm39) V685A probably damaging Het
Zcchc7 T G 4: 44,762,250 (GRCm39) V126G possibly damaging Het
Zmym2 A G 14: 57,180,808 (GRCm39) T907A 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
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
R9492:Acrbp UTSW 6 125,038,062 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16