Incidental Mutation 'R8447:Zp3'
ID 654540
Institutional Source Beutler Lab
Gene Symbol Zp3
Ensembl Gene ENSMUSG00000004948
Gene Name zona pellucida glycoprotein 3
Synonyms Zp-3
MMRRC Submission 067902-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # R8447 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 136008959-136017478 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 136013244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 192 (G192E)
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 probably damaging
Transcript: ENSMUST00000005073
AA Change: G192E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005073
Gene: ENSMUSG00000004948
AA Change: G192E

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A C 5: 8,957,278 (GRCm39) T136P probably damaging Het
Abcc3 A T 11: 94,254,886 (GRCm39) L639Q possibly damaging Het
Adam10 T A 9: 70,655,400 (GRCm39) N289K probably damaging Het
Akap12 A G 10: 4,306,289 (GRCm39) E1138G probably benign Het
Akr1e1 C A 13: 4,648,793 (GRCm39) L167F probably damaging Het
Cars1 T C 7: 143,123,766 (GRCm39) K506E possibly damaging Het
Castor1 T C 11: 4,170,165 (GRCm39) V81A probably damaging Het
Cfap46 C A 7: 139,260,902 (GRCm39) R65S possibly damaging Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Clec16a C A 16: 10,559,487 (GRCm39) T920K probably benign Het
Coro2b C T 9: 62,333,842 (GRCm39) E351K probably damaging Het
Diablo T C 5: 123,655,829 (GRCm39) E163G probably damaging Het
Dnah6 A G 6: 73,115,757 (GRCm39) L1547P probably damaging Het
Dynll2 G T 11: 87,874,719 (GRCm39) D37E probably benign Het
Eml4 A T 17: 83,755,656 (GRCm39) Q408L probably damaging Het
F2rl3 T C 8: 73,489,963 (GRCm39) *397R probably null Het
Fance T A 17: 28,545,155 (GRCm39) L127Q unknown Het
Fat4 T C 3: 39,033,824 (GRCm39) V2492A possibly damaging Het
Ggta1 C T 2: 35,292,573 (GRCm39) D245N probably damaging Het
Gli1 T C 10: 127,166,106 (GRCm39) N1049S probably benign Het
Grin2c A G 11: 115,148,215 (GRCm39) V354A probably benign Het
Kank4 T A 4: 98,666,729 (GRCm39) I573F probably damaging Het
Kdm3a A G 6: 71,588,881 (GRCm39) V376A probably benign Het
Kndc1 T C 7: 139,481,121 (GRCm39) V69A probably damaging Het
Lcmt1 T A 7: 123,020,825 (GRCm39) L250Q probably damaging Het
Ldhb A T 6: 142,444,356 (GRCm39) V99D probably damaging Het
Lepr T C 4: 101,671,688 (GRCm39) V904A probably benign Het
Lipe G T 7: 25,080,017 (GRCm39) N710K probably damaging Het
Med1 C A 11: 98,060,240 (GRCm39) D230Y probably damaging Het
Mpv17l T A 16: 13,758,864 (GRCm39) I96K probably benign Het
Obox1 A T 7: 15,289,541 (GRCm39) Q110L probably damaging Het
Or11h6 T C 14: 50,880,008 (GRCm39) V84A probably benign Het
Or4f4b T A 2: 111,314,101 (GRCm39) Y137N probably damaging Het
Or4k37 T A 2: 111,159,307 (GRCm39) I181N possibly damaging Het
Or5t16 T A 2: 86,818,885 (GRCm39) I212F probably benign Het
Or6c76 T G 10: 129,612,371 (GRCm39) M211R possibly damaging Het
Or9s14 C A 1: 92,535,494 (GRCm39) probably benign Het
Pah T C 10: 87,417,827 (GRCm39) probably null Het
Pate1 A T 9: 35,597,631 (GRCm39) N40K probably benign Het
Pclo C A 5: 14,731,423 (GRCm39) D182E Het
Prl7a2 A T 13: 27,849,941 (GRCm39) S44T possibly damaging Het
Pwp2 T A 10: 78,007,873 (GRCm39) D894V probably benign Het
Ripor2 T A 13: 24,907,771 (GRCm39) L1014Q probably damaging Het
Rpe G A 1: 66,740,188 (GRCm39) probably null Het
Sh2d3c A G 2: 32,642,671 (GRCm39) T706A probably damaging Het
Slc34a1 T C 13: 24,006,309 (GRCm39) F445S possibly damaging Het
Spata20 C A 11: 94,373,080 (GRCm39) L515F probably damaging Het
Tcf20 G A 15: 82,737,437 (GRCm39) S1338F possibly damaging Het
Tm9sf2 C A 14: 122,377,180 (GRCm39) P236Q probably damaging Het
Tmem135 T C 7: 88,803,240 (GRCm39) Y311C probably damaging Het
Tmem245 T C 4: 56,906,261 (GRCm39) Q548R probably benign Het
Tmem94 G T 11: 115,688,023 (GRCm39) C1190F possibly damaging Het
Tmem94 G A 11: 115,688,696 (GRCm39) R1301H probably benign 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
PIT4280001:Zp3 UTSW 5 136,013,318 (GRCm39) missense possibly damaging 0.56
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
R8529:Zp3 UTSW 5 136,016,119 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAGCTGGAGTTTTCCCCAC -3'
(R):5'- GACTCCCTAAGAAAGCAGGC -3'

Sequencing Primer
(F):5'- AGTTTTCCCCACAGGCAG -3'
(R):5'- CCTAAGAAAGCAGGCCAGGC -3'
Posted On 2020-10-20