|Institutional Source||Beutler Lab|
|Gene Name||zona pellucida glycoprotein 3|
|Is this an essential gene?||Probably non essential (E-score: 0.136)|
|Stock #||R1454 (G1)|
|Chromosomal Location||135980099-135988624 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 135984188 bp|
|Amino Acid Change||Isoleucine to Asparagine at position 152 (I152N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000005073 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000005073]|
|Predicted Effect||probably damaging
AA Change: I152N
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: I152N
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.324|
|Coding Region Coverage||
|Validation Efficiency||97% (58/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The protein encoded by this gene is a structural component of the zona pellucida and functions in primary binding and induction of the sperm acrosome reaction. The nascent protein contains a N-terminal signal peptide sequence, a conserved ZP domain, a C-terminal consensus furin cleavage site, and a transmembrane domain. It is hypothesized that furin cleavage results in release of the mature protein from the plasma membrane for subsequent incorporation into the zona pellucida matrix. However, the requirement for furin cleavage in this process remains controversial based on mouse studies. A variation in the last exon of this gene has previously served as the basis for an additional ZP3 locus; however, sequence and literature review reveals that there is only one full-length ZP3 locus in the human genome. Another locus encoding a bipartite transcript designated POMZP3 contains a duplication of the last four exons of ZP3, including the above described variation, and maps closely to this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous female mutants are infertile. In these females oocytes lack a zona pellucida and cumulus-oocyte complexes are disrupted. Oocytes of heterozygous females have a thin zona, but females are fertile. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Zp3||
(F):5'- ACCAGGGCCTAAGTTGATAGAGACC -3'
(R):5'- GGGAGCCGATTTCTCAGTATTCCAG -3'
(F):5'- CTGTCAAGTGTAGGCACTCAG -3'
(R):5'- TCCAGTTCTCTGAAAGGGTACAG -3'