Incidental Mutation 'R4679:Acrbp'
ID 349917
Institutional Source Beutler Lab
Gene Symbol Acrbp
Ensembl Gene ENSMUSG00000072770
Gene Name proacrosin binding protein
Synonyms OY-TES-1, sp32
MMRRC Submission 041932-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R4679 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 125026890-125040228 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 125037881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 393 (C393S)
Ref Sequence ENSEMBL: ENSMUSP00000085632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088294]
AlphaFold Q3V140
Predicted Effect probably damaging
Transcript: ENSMUST00000088294
AA Change: C393S

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000085632
Gene: ENSMUSG00000072770
AA Change: C393S

DomainStartEndE-ValueType
Pfam:PBP_sp32 1 239 1.6e-139 PFAM
KAZAL 466 506 1.42e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136100
Meta Mutation Damage Score 0.7407 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 98% (112/114)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 T A 1: 130,670,140 (GRCm39) S121T possibly damaging Het
Abcb9 A G 5: 124,216,867 (GRCm39) V450A probably benign Het
Abcg1 A T 17: 31,333,235 (GRCm39) R659S probably benign Het
Acad9 A T 3: 36,142,989 (GRCm39) N508I possibly damaging Het
Adcy7 T C 8: 89,044,565 (GRCm39) V486A probably benign Het
Adgrf1 G T 17: 43,621,384 (GRCm39) L540F probably damaging Het
Ap5m1 T C 14: 49,316,285 (GRCm39) I285T probably benign Het
Arhgap27 G T 11: 103,251,775 (GRCm39) probably benign Het
Armc5 A T 7: 127,839,276 (GRCm39) E198V possibly damaging Het
Atp8b5 A T 4: 43,365,955 (GRCm39) K742M probably benign Het
Atp9a T G 2: 168,503,884 (GRCm39) T603P possibly damaging Het
Bsn A G 9: 107,987,329 (GRCm39) S2808P unknown Het
C9orf72 C T 4: 35,226,033 (GRCm39) probably benign Het
Catsper4 T C 4: 133,953,916 (GRCm39) N81S probably damaging Het
Ccl17 C G 8: 95,537,128 (GRCm39) T10S probably benign Het
Cdc123 A T 2: 5,849,703 (GRCm39) V6D probably damaging Het
Cdca2 T C 14: 67,952,415 (GRCm39) K14E possibly damaging Het
Cdh3 C A 8: 107,266,488 (GRCm39) T302K probably damaging Het
Cdh9 A G 15: 16,851,045 (GRCm39) M605V probably benign Het
Cdk4 A G 10: 126,900,780 (GRCm39) E144G possibly damaging Het
Clasp1 C T 1: 118,471,001 (GRCm39) A879V probably damaging Het
Cldn8 G A 16: 88,359,296 (GRCm39) H210Y probably benign Het
Cntn5 T C 9: 9,970,536 (GRCm39) D518G probably benign Het
Cog1 C T 11: 113,543,116 (GRCm39) A208V probably damaging Het
Col4a2 T A 8: 11,481,337 (GRCm39) H836Q possibly damaging Het
Copb1 T C 7: 113,848,211 (GRCm39) D108G probably damaging Het
Csmd3 A T 15: 48,024,479 (GRCm39) Y600* probably null Het
Cyb5r1 T A 1: 134,335,571 (GRCm39) H164Q probably benign Het
Dkc1 A G X: 74,144,598 (GRCm39) I215V probably benign Het
Enpep A G 3: 129,097,362 (GRCm39) probably null Het
Fam110d A G 4: 133,978,747 (GRCm39) S244P probably damaging Het
Fbln7 A G 2: 128,736,806 (GRCm39) Y311C probably damaging Het
Fign A C 2: 63,809,605 (GRCm39) L555R probably damaging Het
Fkbp7 A T 2: 76,502,032 (GRCm39) probably benign Het
Fmn2 T C 1: 174,330,728 (GRCm39) S373P unknown Het
Frmd4b C T 6: 97,272,627 (GRCm39) D868N possibly damaging Het
Garin3 T A 11: 46,295,640 (GRCm39) M4K possibly damaging Het
Gfpt2 A G 11: 49,714,564 (GRCm39) N321S probably benign Het
Glmn G T 5: 107,708,941 (GRCm39) T372K probably damaging Het
Gm26602 C T 10: 79,746,808 (GRCm39) probably benign Het
Gm6797 A G X: 8,505,933 (GRCm39) noncoding transcript Het
Gpat3 T A 5: 101,041,322 (GRCm39) F383L probably damaging Het
H2-M11 C T 17: 36,859,042 (GRCm39) T194I possibly damaging Het
Hcn1 C T 13: 117,793,551 (GRCm39) H268Y probably benign Het
Hectd4 G T 5: 121,463,314 (GRCm39) C2345F possibly damaging Het
Htt A G 5: 34,977,424 (GRCm39) D770G probably benign Het
Ints3 T C 3: 90,315,817 (GRCm39) T316A possibly damaging Het
Ipo9 A G 1: 135,321,907 (GRCm39) F608L probably benign Het
Irak1 A C X: 73,065,995 (GRCm39) probably benign Het
Jam2 G A 16: 84,609,840 (GRCm39) V151M probably damaging Het
Lag3 T A 6: 124,881,508 (GRCm39) Q488L possibly damaging Het
Large2 A T 2: 92,197,903 (GRCm39) L266Q probably benign Het
Lrp3 T G 7: 34,903,365 (GRCm39) D327A probably damaging Het
Mamstr C A 7: 45,294,116 (GRCm39) probably benign Het
Mettl14 G A 3: 123,163,063 (GRCm39) probably benign Het
Miga1 A G 3: 152,028,112 (GRCm39) V139A probably damaging Het
Mthfd2l A C 5: 91,096,770 (GRCm39) R130S probably benign Het
Myo1b A G 1: 51,797,132 (GRCm39) I970T possibly damaging Het
Nat10 C A 2: 103,562,515 (GRCm39) W607L probably damaging Het
Nop56 A G 2: 130,120,193 (GRCm39) T183A probably benign Het
Or10h1 A G 17: 33,418,367 (GRCm39) H115R probably benign Het
Or2d4 A T 7: 106,544,152 (GRCm39) S19T probably benign Het
Or4c10 A G 2: 89,761,008 (GRCm39) Y285C possibly damaging Het
Or4d1 T A 11: 87,805,136 (GRCm39) M199L probably benign Het
Or52j3 A G 7: 102,836,309 (GRCm39) Y167C probably benign Het
Or5ae2 T A 7: 84,506,112 (GRCm39) Y178* probably null Het
Pcdhb12 T C 18: 37,570,002 (GRCm39) F383L probably damaging Het
Pde4dip C A 3: 97,602,321 (GRCm39) D2252Y probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Plscr2 T G 9: 92,169,823 (GRCm39) L91R probably benign Het
Plxnc1 T A 10: 94,630,306 (GRCm39) Y1531F probably damaging Het
Ptprq A T 10: 107,521,043 (GRCm39) F710I probably benign Het
Rad51ap2 A G 12: 11,506,552 (GRCm39) E158G probably damaging Het
Rasip1 T A 7: 45,277,247 (GRCm39) H18Q possibly damaging Het
Rcsd1 T A 1: 165,483,493 (GRCm39) N166I probably damaging Het
Ripor1 T A 8: 106,344,417 (GRCm39) I517K possibly damaging Het
Ryr2 T A 13: 11,839,255 (GRCm39) H506L probably benign Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Septin14 T C 5: 129,770,090 (GRCm39) D202G possibly damaging Het
Siglec1 A T 2: 130,915,331 (GRCm39) L1420Q possibly damaging Het
Slc22a29 T A 19: 8,138,948 (GRCm39) I505F possibly damaging Het
Sorcs1 T A 19: 50,171,107 (GRCm39) Y927F probably benign Het
Spats2 T G 15: 99,078,603 (GRCm39) M191R possibly damaging Het
Sycp1 C T 3: 102,829,778 (GRCm39) probably null Het
T2 A G 17: 8,609,848 (GRCm39) E99G possibly damaging Het
Taf3 G A 2: 10,053,375 (GRCm39) probably benign Het
Tnfsf10 A T 3: 27,389,728 (GRCm39) N263I probably damaging Het
Treml2 A T 17: 48,615,203 (GRCm39) R229S probably benign Het
Trmt13 T C 3: 116,383,404 (GRCm39) K125E probably damaging Het
Ttc9 G T 12: 81,678,375 (GRCm39) C66F probably damaging Het
Vmn2r63 C T 7: 42,577,544 (GRCm39) M331I probably benign Het
Zfp353-ps T C 8: 42,535,251 (GRCm39) noncoding transcript Het
Zfp932 A T 5: 110,157,760 (GRCm39) H486L probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- CCGTCCTTACAGTATGCTCTGG -3'
(R):5'- TTCTAGCCCAGCAAATCGTCC -3'

Sequencing Primer
(F):5'- CCTTACAGTATGCTCTGGAGGTC -3'
(R):5'- AGCAAATCGTCCTTTATCTGGG -3'
Posted On 2015-10-08