Incidental Mutation 'PIT4280001:Zp3'
ID 554406
Institutional Source Beutler Lab
Gene Symbol Zp3
Ensembl Gene ENSMUSG00000004948
Gene Name zona pellucida glycoprotein 3
Synonyms Zp-3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # PIT4280001 (G1)
Quality Score 183.009
Status Not validated
Chromosome 5
Chromosomal Location 136008959-136017478 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 136013318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 217 (V217M)
Ref Sequence ENSEMBL: ENSMUSP00000005073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005073]
AlphaFold P10761
PDB Structure ZP-N domain of mammalian sperm receptor ZP3 (crystal form I) [X-RAY DIFFRACTION]
ZP-N domain of mammalian sperm receptor ZP3 (crystal form II) [X-RAY DIFFRACTION]
ZP-N domain of mammalian sperm receptor ZP3 (crystal form III) [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000005073
AA Change: V217M

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000005073
Gene: ENSMUSG00000004948
AA Change: V217M

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
ZP 45 304 1.22e-68 SMART
low complexity region 320 334 N/A INTRINSIC
transmembrane domain 387 409 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131563
SMART Domains Protein: ENSMUSP00000120447
Gene: ENSMUSG00000004948

DomainStartEndE-ValueType
Pfam:Zona_pellucida 35 136 6.4e-16 PFAM
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.9%
  • 10x: 85.5%
  • 20x: 73.2%
Validation Efficiency
MGI Phenotype 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
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L24Rik A G 11: 83,331,660 (GRCm39) D161G probably damaging Het
Acer2 C T 4: 86,805,320 (GRCm39) L95F probably damaging Het
Adam15 C T 3: 89,251,285 (GRCm39) probably null Het
Aoc1l3 A T 6: 48,964,054 (GRCm39) M21L probably benign Het
Bmi1 T A 2: 18,687,820 (GRCm39) Y98* probably null Het
Cdon T C 9: 35,398,231 (GRCm39) C983R probably damaging Het
Cfap91 C T 16: 38,153,135 (GRCm39) V160I probably benign Het
Col12a1 T C 9: 79,585,387 (GRCm39) R1297G probably damaging Het
Cpd A T 11: 76,681,850 (GRCm39) M1132K probably benign Het
Dnah17 T A 11: 117,989,408 (GRCm39) R1267W possibly damaging Het
Dnah9 G A 11: 65,895,839 (GRCm39) A2512V probably benign Het
Eri3 G A 4: 117,439,831 (GRCm39) G175D probably damaging Het
Fbxo9 C A 9: 77,994,793 (GRCm39) W244L probably damaging Het
Fgfr3 A T 5: 33,889,576 (GRCm39) H343L probably benign Het
Fmnl2 G A 2: 53,008,208 (GRCm39) A803T unknown Het
Fmnl3 A G 15: 99,219,134 (GRCm39) probably null Het
Fth1 C A 19: 9,961,973 (GRCm39) A104E probably damaging Het
Gcm1 T C 9: 77,966,915 (GRCm39) Y45H probably damaging Het
Gm5157 C G 7: 20,919,007 (GRCm39) G179R probably damaging Het
Gpr179 A G 11: 97,234,941 (GRCm39) I463T probably damaging Het
Gpr35 T C 1: 92,910,356 (GRCm39) Y23H probably damaging Het
Inpp4b C T 8: 82,761,046 (GRCm39) H647Y probably benign Het
Kif6 A T 17: 50,062,148 (GRCm39) K436M probably benign Het
Lacc1 T A 14: 77,272,517 (GRCm39) Q93L probably damaging Het
Lamc1 T C 1: 153,119,217 (GRCm39) R801G probably damaging Het
Lrp2bp T G 8: 46,476,048 (GRCm39) V263G probably damaging Het
Magi3 T A 3: 103,961,668 (GRCm39) K453N probably damaging Het
Mfsd6 T A 1: 52,700,039 (GRCm39) Y703F probably benign Het
Mms22l A G 4: 24,581,149 (GRCm39) T820A probably benign Het
Ndufa12 T C 10: 94,034,994 (GRCm39) probably null Het
Nlrp12 A T 7: 3,290,063 (GRCm39) C150S possibly damaging Het
Noc4l G A 5: 110,799,305 (GRCm39) T159I probably benign Het
Olfml2b T A 1: 170,475,305 (GRCm39) C77S probably damaging Het
Or4c12 A T 2: 89,774,087 (GRCm39) I124N probably damaging Het
Or9a4 C A 6: 40,548,650 (GRCm39) T110K probably damaging Het
Pdzd2 A G 15: 12,399,374 (GRCm39) V784A probably damaging Het
Pip5kl1 A T 2: 32,473,470 (GRCm39) Y369F probably benign Het
Pkdrej A T 15: 85,704,136 (GRCm39) I600N probably benign Het
Psg19 T C 7: 18,530,831 (GRCm39) I108V probably damaging Het
Pxdn G A 12: 30,045,327 (GRCm39) V539M probably damaging Het
Resf1 T G 6: 149,227,023 (GRCm39) I23S probably benign Het
Rsbn1l T A 5: 21,124,653 (GRCm39) H383L probably damaging Het
Scamp2 A T 9: 57,488,076 (GRCm39) N118I probably damaging Het
Scn2a T C 2: 65,546,074 (GRCm39) V879A probably damaging Het
Scn8a G A 15: 100,855,370 (GRCm39) E172K probably damaging Het
Slc16a6 C T 11: 109,349,419 (GRCm39) C214Y possibly damaging Het
Stag1 A G 9: 100,824,769 (GRCm39) T922A possibly damaging Het
Tarbp1 T C 8: 127,157,586 (GRCm39) H1307R probably damaging Het
Tut1 T G 19: 8,936,626 (GRCm39) V150G probably benign Het
Ubr2 G A 17: 47,255,789 (GRCm39) R1371W probably damaging Het
Vmn2r124 A G 17: 18,283,487 (GRCm39) N394D probably benign Het
Vmn2r63 T C 7: 42,553,409 (GRCm39) T616A probably damaging Het
Other mutations in Zp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02282:Zp3 APN 5 136,013,205 (GRCm39) missense possibly damaging 0.72
IGL02563:Zp3 APN 5 136,016,464 (GRCm39) critical splice donor site probably null
IGL03185:Zp3 APN 5 136,011,575 (GRCm39) missense possibly damaging 0.94
R0646:Zp3 UTSW 5 136,013,210 (GRCm39) missense possibly damaging 0.46
R1454:Zp3 UTSW 5 136,013,042 (GRCm39) missense probably damaging 1.00
R1691:Zp3 UTSW 5 136,009,135 (GRCm39) missense possibly damaging 0.86
R3415:Zp3 UTSW 5 136,014,514 (GRCm39) missense probably benign 0.07
R4599:Zp3 UTSW 5 136,013,089 (GRCm39) nonsense probably null
R4987:Zp3 UTSW 5 136,016,359 (GRCm39) nonsense probably null
R5907:Zp3 UTSW 5 136,017,377 (GRCm39) missense probably benign 0.00
R6388:Zp3 UTSW 5 136,011,548 (GRCm39) missense probably benign 0.02
R6587:Zp3 UTSW 5 136,016,352 (GRCm39) missense possibly damaging 0.68
R6629:Zp3 UTSW 5 136,016,190 (GRCm39) missense probably benign 0.00
R7438:Zp3 UTSW 5 136,011,559 (GRCm39) missense probably damaging 1.00
R8050:Zp3 UTSW 5 136,011,604 (GRCm39) missense probably damaging 1.00
R8083:Zp3 UTSW 5 136,013,376 (GRCm39) missense probably damaging 1.00
R8158:Zp3 UTSW 5 136,014,418 (GRCm39) missense probably benign 0.15
R8421:Zp3 UTSW 5 136,017,331 (GRCm39) missense probably benign 0.00
R8447:Zp3 UTSW 5 136,013,244 (GRCm39) missense probably damaging 1.00
R8529:Zp3 UTSW 5 136,016,119 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCTCTCTTCGCCTGATGGAGG -3'
(R):5'- GGTGAATCTGCCCAAAATGC -3'

Sequencing Primer
(F):5'- CCTGATGGAGGGTGAGTCAG -3'
(R):5'- CAAAATGCACACATATGAAAGTGTC -3'
Posted On 2019-06-07