Incidental Mutation 'R5203:Zpbp'
ID 398268
Institutional Source Beutler Lab
Gene Symbol Zpbp
Ensembl Gene ENSMUSG00000020193
Gene Name zona pellucida binding protein
Synonyms Sp38, 4930486K01Rik
MMRRC Submission 042778-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R5203 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 11229626-11412408 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 11358451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 272 (E272G)
Ref Sequence ENSEMBL: ENSMUSP00000020413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020413]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000020413
AA Change: E272G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000020413
Gene: ENSMUSG00000020193
AA Change: E272G

DomainStartEndE-ValueType
low complexity region 63 101 N/A INTRINSIC
Pfam:Sp38 144 408 4.3e-128 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ZPBP is one of several proteins that are thought to participate in secondary binding between acrosome-reacted sperm and the egg-specific extracellular matrix, the zona pellucida (McLeskey et al., 1998 [PubMed 9378618]).[supplied by OMIM, Aug 2008]
PHENOTYPE: Male mice homozygous for a null mutation display infertility and asthenoglobozoospermia. Heterozygous males display an increase in the percentage of abnormal sperm. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T G 16: 4,653,462 (GRCm39) S4A unknown Het
Adgrv1 A T 13: 81,659,024 (GRCm39) N2053K possibly damaging Het
Akr1c13 C T 13: 4,247,896 (GRCm39) R223* probably null Het
Arhgef11 A G 3: 87,642,664 (GRCm39) Y1370C probably damaging Het
Arid1a T C 4: 133,409,314 (GRCm39) E1731G unknown Het
Cyp2c54 A T 19: 40,060,918 (GRCm39) V75E probably damaging Het
Fa2h A G 8: 112,075,996 (GRCm39) M209T probably benign Het
Fam171a1 T C 2: 3,224,582 (GRCm39) I311T probably damaging Het
Fat3 C A 9: 16,289,438 (GRCm39) L28F possibly damaging Het
Fntb C A 12: 76,884,346 (GRCm39) P22Q probably benign Het
Gmeb1 T C 4: 131,959,320 (GRCm39) probably null Het
Gpr22 A G 12: 31,759,787 (GRCm39) S112P probably damaging Het
Htr7 A G 19: 35,941,792 (GRCm39) S464P probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Krt79 A G 15: 101,838,175 (GRCm39) S527P unknown Het
Lnpep A T 17: 17,757,325 (GRCm39) D858E probably damaging Het
Ly9 C A 1: 171,427,347 (GRCm39) V403F probably damaging Het
Mindy4 A G 6: 55,232,646 (GRCm39) Q363R probably benign Het
Mtmr10 G A 7: 63,967,909 (GRCm39) V273I probably benign Het
Mup2 T A 4: 60,139,728 (GRCm39) E20V probably damaging Het
Myo16 A G 8: 10,410,995 (GRCm39) N151S probably damaging Het
Nod2 A C 8: 89,391,079 (GRCm39) D462A probably damaging Het
Nt5c2 A G 19: 46,878,247 (GRCm39) Y497H probably damaging Het
Or12d2 A T 17: 37,625,092 (GRCm39) L61Q probably damaging Het
Or4k44 A C 2: 111,367,981 (GRCm39) Y218D probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdhac1 A T 18: 37,224,243 (GRCm39) D352V probably damaging Het
Psap A G 10: 60,130,755 (GRCm39) D195G probably damaging Het
Scyl1 G A 19: 5,821,395 (GRCm39) probably benign Het
Sh3bgr A G 16: 96,025,720 (GRCm39) probably benign Het
Slc2a12 G T 10: 22,521,213 (GRCm39) probably null Het
Slc2a12 G C 10: 22,568,117 (GRCm39) V515L probably benign Het
Ttc17 T C 2: 94,209,061 (GRCm39) Y131C probably damaging Het
Ttc27 A G 17: 75,084,649 (GRCm39) D419G probably damaging Het
Ubxn8 T C 8: 34,123,639 (GRCm39) E100G probably damaging Het
Other mutations in Zpbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01716:Zpbp APN 11 11,354,052 (GRCm39) missense probably benign 0.42
IGL02227:Zpbp APN 11 11,365,248 (GRCm39) missense probably benign 0.21
IGL02725:Zpbp APN 11 11,412,358 (GRCm39) unclassified probably benign
R1673:Zpbp UTSW 11 11,302,696 (GRCm39) missense probably damaging 0.99
R2270:Zpbp UTSW 11 11,368,272 (GRCm39) missense probably benign 0.05
R5023:Zpbp UTSW 11 11,365,248 (GRCm39) missense probably benign 0.21
R5056:Zpbp UTSW 11 11,409,734 (GRCm39) missense possibly damaging 0.95
R5902:Zpbp UTSW 11 11,365,332 (GRCm39) missense probably benign 0.11
R6458:Zpbp UTSW 11 11,358,538 (GRCm39) missense probably damaging 1.00
R6478:Zpbp UTSW 11 11,412,318 (GRCm39) unclassified probably benign
R8475:Zpbp UTSW 11 11,365,203 (GRCm39) missense possibly damaging 0.85
R9470:Zpbp UTSW 11 11,358,541 (GRCm39) missense probably damaging 1.00
X0022:Zpbp UTSW 11 11,232,649 (GRCm39) missense probably damaging 1.00
Z1088:Zpbp UTSW 11 11,358,568 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAGGACTTTATTTGGAAGGC -3'
(R):5'- AACCTCTAGTATACTGTGAGATAGGAG -3'

Sequencing Primer
(F):5'- AGGACTTTATTTGGAAGGCTATTAGC -3'
(R):5'- GTTACCATGCATTTGAATTGCATG -3'
Posted On 2016-07-06