Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02563:Zp3'

298763

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zp3

Ensembl Gene

ENSMUSG00000004948

Gene Name

zona pellucida glycoprotein 3

Synonyms

Zp-3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

IGL02563

Quality Score

Status

Chromosome

Chromosomal Location

136008959-136017478 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 136016464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000005073

SMART Domains

Protein: ENSMUSP00000005073
Gene: ENSMUSG00000004948

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Zona_pellucida	35	136	6.4e-16	PFAM

Coding Region Coverage

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	A	T	2: 35,270,410 (GRCm39)	V97E	probably damaging	Het
Abhd16a	C	T	17: 35,320,221 (GRCm39)	T362M	probably damaging	Het
Adam23	T	G	1: 63,607,136 (GRCm39)		probably benign	Het
Apeh	C	A	9: 107,970,908 (GRCm39)	R87L	possibly damaging	Het
Arid3a	T	A	10: 79,786,717 (GRCm39)	M490K	probably damaging	Het
Atp6v1b1	T	A	6: 83,732,433 (GRCm39)	V251D	probably benign	Het
Cog8	C	T	8: 107,783,055 (GRCm39)	R78Q	possibly damaging	Het
Cyld	T	C	8: 89,462,522 (GRCm39)	I701T	probably damaging	Het
Dmgdh	A	G	13: 93,811,047 (GRCm39)		probably benign	Het
Dnm1	T	C	2: 32,205,931 (GRCm39)		probably null	Het
Dop1b	T	A	16: 93,574,293 (GRCm39)	V2D	probably damaging	Het
Dusp22	A	T	13: 30,889,628 (GRCm39)	S70C	possibly damaging	Het
Dync2h1	T	C	9: 7,035,700 (GRCm39)	Q3415R	possibly damaging	Het
Dysf	T	C	6: 84,163,498 (GRCm39)		probably benign	Het
Fam114a1	G	A	5: 65,163,491 (GRCm39)		probably null	Het
Fam20a	T	A	11: 109,568,620 (GRCm39)	Q302L	possibly damaging	Het
Fancm	T	A	12: 65,139,236 (GRCm39)	L374H	probably damaging	Het
Fcgbpl1	G	A	7: 27,857,317 (GRCm39)	E2222K	probably benign	Het
Fgf17	G	A	14: 70,874,178 (GRCm39)	Q204*	probably null	Het
Gap43	T	C	16: 42,112,495 (GRCm39)	T89A	probably benign	Het
Gm5069	A	G	1: 180,155,464 (GRCm39)		probably benign	Het
Gm9913	C	T	2: 125,348,254 (GRCm39)		probably benign	Het
Gpr174	T	C	X: 106,336,854 (GRCm39)	L222P	probably benign	Het
Grid2	A	T	6: 64,322,857 (GRCm39)	Q619L	possibly damaging	Het
Hoxc13	A	G	15: 102,830,233 (GRCm39)	D204G	possibly damaging	Het
Itgav	T	C	2: 83,601,580 (GRCm39)	V317A	probably benign	Het
Keg1	A	T	19: 12,696,521 (GRCm39)	N288I	probably damaging	Het
Ksr1	C	T	11: 78,935,684 (GRCm39)	V234I	possibly damaging	Het
Lrp1	T	A	10: 127,387,555 (GRCm39)	D3365V	probably damaging	Het
Luc7l3	A	T	11: 94,190,894 (GRCm39)		probably null	Het
Mta2	T	C	19: 8,925,415 (GRCm39)	I348T	probably benign	Het
Nphp4	A	G	4: 152,640,677 (GRCm39)	I1015V	probably benign	Het
Nup214	C	T	2: 31,867,872 (GRCm39)	S113F	probably damaging	Het
Or4f7	T	C	2: 111,644,162 (GRCm39)	K303R	probably benign	Het
Pabpn1l	T	A	8: 123,347,122 (GRCm39)	T228S	probably damaging	Het
Paxx	T	C	2: 25,349,674 (GRCm39)	*206W	probably null	Het
Pcdhb10	A	G	18: 37,546,126 (GRCm39)	T401A	probably benign	Het
Ppp1r3a	A	C	6: 14,719,761 (GRCm39)	D384E	probably benign	Het
Rif1	T	C	2: 51,967,077 (GRCm39)	V122A	probably damaging	Het
Scn4b	T	C	9: 45,057,980 (GRCm39)	L24P	probably damaging	Het
Sec22c	T	C	9: 121,513,716 (GRCm39)		probably benign	Het
Sh3rf2	A	G	18: 42,289,207 (GRCm39)	D676G	probably damaging	Het
Slc20a1	A	G	2: 129,049,604 (GRCm39)	T289A	probably benign	Het
Tekt2	T	C	4: 126,218,418 (GRCm39)	D84G	possibly damaging	Het
Tgfbr2	T	A	9: 115,959,066 (GRCm39)	N116I	probably benign	Het
Tmem196	A	G	12: 119,910,209 (GRCm39)	M1V	probably null	Het
Tnn	A	G	1: 159,942,123 (GRCm39)	V1125A	probably damaging	Het
Vmn2r51	A	T	7: 9,834,243 (GRCm39)	M265K	probably benign	Het
Zfp319	T	C	8: 96,050,362 (GRCm39)		probably benign	Het
Zfp65	A	T	13: 67,856,184 (GRCm39)	V365E	possibly damaging	Het

Other mutations in Zp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02282:Zp3	APN	5	136,013,205 (GRCm39)	missense	possibly damaging	0.72
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
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

Posted On

2015-04-16