Mutagenetix > Incidental Mutation

Incidental Mutation 'R8529:Zp3'

658933

Institutional Source

Beutler Lab

Gene Symbol

Zp3

Ensembl Gene

ENSMUSG00000004948

Gene Name

zona pellucida glycoprotein 3

Synonyms

Zp-3

MMRRC Submission

068499-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R8529 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136008959-136017478 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 136016119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 282 (T282N)

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: T282N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000005073
Gene: ENSMUSG00000004948
AA Change: T282N

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

Meta Mutation Damage Score

0.8198

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (52/53)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd5	A	G	2: 22,970,704 (GRCm39)	Y173C	probably benign	Het
Ankrd55	A	T	13: 112,480,670 (GRCm39)	T192S	probably benign	Het
Apob	A	T	12: 8,057,353 (GRCm39)	H1912L	probably damaging	Het
Bcl2l11	T	C	2: 127,970,796 (GRCm39)	S82P	possibly damaging	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Btnl10	A	T	11: 58,813,238 (GRCm39)	D289V	probably benign	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Cdh11	G	A	8: 103,391,387 (GRCm39)	P283L	probably benign	Het
Crybg3	C	A	16: 59,376,984 (GRCm39)	K1423N	probably damaging	Het
Dgat1	T	A	15: 76,387,237 (GRCm39)	Y350F	probably damaging	Het
Dhx36	TCCGCCGCCGCCGCCGC	TCCGCCGCCGCCGC	3: 62,414,277 (GRCm39)		probably benign	Het
Edc4	A	G	8: 106,611,682 (GRCm39)	D86G	probably damaging	Het
Ep400	T	C	5: 110,867,102 (GRCm39)	Y1014C	unknown	Het
Erbb3	A	G	10: 128,419,069 (GRCm39)	V264A	probably damaging	Het
Fam149b	T	A	14: 20,408,370 (GRCm39)		probably null	Het
Foxc1	A	G	13: 31,992,520 (GRCm39)	S444G	unknown	Het
Gm2042	G	A	12: 87,926,856 (GRCm39)	S391N	possibly damaging	Het
Gnb3	A	T	6: 124,814,633 (GRCm39)	N88K	probably benign	Het
Ifnar2	T	A	16: 91,188,684 (GRCm39)	V157D	possibly damaging	Het
Il27	A	T	7: 126,191,977 (GRCm39)	L53Q	probably damaging	Het
Ints13	T	C	6: 146,464,926 (GRCm39)	E225G	probably damaging	Het
Itpr2	G	A	6: 146,231,051 (GRCm39)	R1167C	probably damaging	Het
Lrp2	A	T	2: 69,330,986 (GRCm39)	I1690K	probably damaging	Het
Lrrc37a	T	C	11: 103,348,373 (GRCm39)	E2774G	unknown	Het
Lyz2	A	T	10: 117,116,568 (GRCm39)	N93K	probably damaging	Het
Mki67	A	G	7: 135,315,688 (GRCm39)		probably null	Het
Mroh1	T	C	15: 76,311,832 (GRCm39)	F522L	probably benign	Het
Myo5a	A	G	9: 75,120,154 (GRCm39)	I1626V	probably benign	Het
Nav3	A	T	10: 109,689,192 (GRCm39)	S362T	probably benign	Het
Neurl4	C	T	11: 69,799,613 (GRCm39)	P972L	probably damaging	Het
Or11i1	A	T	3: 106,729,109 (GRCm39)	Y255*	probably null	Het
Or13p8	A	T	4: 118,583,770 (GRCm39)	T109S	probably benign	Het
Or8a1	A	T	9: 37,642,252 (GRCm39)	V9E	probably damaging	Het
Potefam3b	A	G	8: 21,159,174 (GRCm39)	D176G	possibly damaging	Het
Prdm5	C	T	6: 65,878,829 (GRCm39)	R128C	probably damaging	Het
Prom1	A	T	5: 44,170,369 (GRCm39)		probably null	Het
Prrc2c	T	A	1: 162,536,663 (GRCm39)		probably benign	Het
Prss3b	T	A	6: 41,009,369 (GRCm39)	Y155F	probably benign	Het
Ptprd	T	C	4: 76,047,262 (GRCm39)	T322A	probably damaging	Het
Reg3d	C	G	6: 78,353,382 (GRCm39)	G154R	probably null	Het
Rsf1	A	G	7: 97,320,074 (GRCm39)		probably benign	Het
Ryr1	T	A	7: 28,769,509 (GRCm39)	T2724S	possibly damaging	Het
Sec63	A	G	10: 42,665,379 (GRCm39)	Y103C	probably damaging	Het
Serpinb9b	A	T	13: 33,223,543 (GRCm39)	D245V	probably benign	Het
Slc22a28	G	A	19: 8,040,778 (GRCm39)	T491I	probably benign	Het
Slc24a2	T	C	4: 86,946,517 (GRCm39)	N484S	possibly damaging	Het
Slc44a3	G	T	3: 121,319,334 (GRCm39)	L136I	probably benign	Het
Tff3	A	G	17: 31,348,460 (GRCm39)		probably null	Het
Tpp2	T	A	1: 44,022,300 (GRCm39)	D899E	probably benign	Het
Tsbp1	G	T	17: 34,679,143 (GRCm39)	C302F	possibly damaging	Het
Tsen54	G	T	11: 115,711,386 (GRCm39)	D268Y	possibly damaging	Het
Ttbk2	A	C	2: 120,604,338 (GRCm39)	V220G	possibly damaging	Het
Uggt1	A	G	1: 36,223,513 (GRCm39)	V592A	possibly damaging	Het
Usp49	A	T	17: 47,983,037 (GRCm39)	Q14L	probably damaging	Het
Vldlr	T	A	19: 27,207,656 (GRCm39)	L48Q	probably benign	Het
Zbed6	T	C	1: 133,584,706 (GRCm39)	Y877C	probably benign	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
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
R8447:Zp3	UTSW	5	136,013,244 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGTATCATAAACATGAATCGGCC -3'
(R):5'- GGACAGGAAGATGTTTGCCATTG -3'

Sequencing Primer
(F):5'- GTGTAGCCCTGACTGTCCTAGAAC -3'
(R):5'- GGAAGATGTTTGCCATTGTATAATTG -3'

Posted On

2021-01-18