Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00707:Zp2'

15050

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zp2

Ensembl Gene

ENSMUSG00000030911

Gene Name

zona pellucida glycoprotein 2

Synonyms

Zp-2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL00707

Quality Score

Status

Chromosome

Chromosomal Location

119725995-119744514 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 119732636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 637 (A637T)

Ref Sequence

ENSEMBL: ENSMUSP00000147097 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033207] [ENSMUST00000207726] [ENSMUST00000208874]

AlphaFold

P20239

Predicted Effect

probably benign
Transcript: ENSMUST00000033207
AA Change: A637T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000033207
Gene: ENSMUSG00000030911
AA Change: A637T

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
ZP	364	630	1.06e-86	SMART
low complexity region	655	668	N/A	INTRINSIC
transmembrane domain	684	703	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207726

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208122

Predicted Effect

probably benign
Transcript: ENSMUST00000208874
AA Change: A637T

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the zona pellucida family of glycoproteins that play an important role in the survival of growing oocytes, successful fertilization and the passage of early embryos through the oviduct. The encoded preproprotein undergoes proteolytic processing to generate the mature polypeptide that is incorporated into the extracellular matrix surrounding mouse oocytes. Mice lacking the encoded protein develop defective zonae pellucidae that disrupt folliculogenesis, fertility and development. [provided by RefSeq, Sep 2016]
PHENOTYPE: Female homozygous mutants exhibit a thin zona pellucida matrix in early ovarian follicles that becomes disassociated in pre-ovulatory follicles. Few oocytes are produced, and any that are fertilized fail to survive to the two-cell stage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	G	T	11: 72,069,330 (GRCm39)	T528K	probably damaging	Het
Abca13	A	T	11: 9,241,586 (GRCm39)	T1150S	probably damaging	Het
Acrv1	C	T	9: 36,607,904 (GRCm39)	T188I	possibly damaging	Het
Atrnl1	A	T	19: 57,661,697 (GRCm39)	Y559F	probably damaging	Het
Ccdc171	A	T	4: 83,599,392 (GRCm39)	M736L	probably benign	Het
Eif4g1	G	A	16: 20,507,764 (GRCm39)	R1480Q	probably damaging	Het
Huwe1	T	A	X: 150,643,730 (GRCm39)	S553T	probably damaging	Het
Myb	T	A	10: 21,024,283 (GRCm39)	E299V	probably damaging	Het
Nuf2	T	A	1: 169,350,004 (GRCm39)		probably benign	Het
Ptafr	A	G	4: 132,307,569 (GRCm39)	T320A	probably benign	Het
Pwp1	T	A	10: 85,714,380 (GRCm39)	H107Q	probably damaging	Het
Tmeff2	A	G	1: 51,172,212 (GRCm39)		probably null	Het
Zzz3	T	A	3: 152,154,680 (GRCm39)	L118*	probably null	Het

Other mutations in Zp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Zp2	APN	7	119,732,623 (GRCm39)	missense	probably benign	0.00
IGL00916:Zp2	APN	7	119,737,397 (GRCm39)	missense	probably damaging	1.00
IGL01554:Zp2	APN	7	119,737,548 (GRCm39)	missense	possibly damaging	0.78
IGL01845:Zp2	APN	7	119,737,414 (GRCm39)	missense	probably damaging	1.00
IGL02111:Zp2	APN	7	119,731,641 (GRCm39)	missense	possibly damaging	0.75
IGL02145:Zp2	APN	7	119,739,074 (GRCm39)	critical splice acceptor site	probably null
IGL02155:Zp2	APN	7	119,743,340 (GRCm39)	missense	probably benign	0.00
IGL02178:Zp2	APN	7	119,732,973 (GRCm39)	missense	possibly damaging	0.85
IGL02646:Zp2	APN	7	119,734,564 (GRCm39)	missense	possibly damaging	0.92
IGL03220:Zp2	APN	7	119,736,450 (GRCm39)	missense	possibly damaging	0.90
PIT4687001:Zp2	UTSW	7	119,741,102 (GRCm39)	missense	probably benign	0.00
R0138:Zp2	UTSW	7	119,736,423 (GRCm39)	missense	probably damaging	0.96
R0197:Zp2	UTSW	7	119,742,799 (GRCm39)	splice site	probably benign
R0519:Zp2	UTSW	7	119,737,372 (GRCm39)	missense	probably damaging	1.00
R0573:Zp2	UTSW	7	119,734,693 (GRCm39)	splice site	probably benign
R0879:Zp2	UTSW	7	119,734,757 (GRCm39)	missense	probably damaging	1.00
R0883:Zp2	UTSW	7	119,742,799 (GRCm39)	splice site	probably benign
R1160:Zp2	UTSW	7	119,735,268 (GRCm39)	missense	probably damaging	1.00
R1235:Zp2	UTSW	7	119,737,566 (GRCm39)	missense	possibly damaging	0.57
R1753:Zp2	UTSW	7	119,737,328 (GRCm39)	missense	probably benign
R1883:Zp2	UTSW	7	119,732,624 (GRCm39)	missense	probably benign	0.02
R1995:Zp2	UTSW	7	119,734,388 (GRCm39)	missense	probably damaging	0.97
R2196:Zp2	UTSW	7	119,737,529 (GRCm39)	missense	probably benign
R2850:Zp2	UTSW	7	119,737,529 (GRCm39)	missense	probably benign
R3715:Zp2	UTSW	7	119,741,057 (GRCm39)	missense	possibly damaging	0.95
R3931:Zp2	UTSW	7	119,731,580 (GRCm39)	intron	probably benign
R4082:Zp2	UTSW	7	119,734,475 (GRCm39)	missense	probably benign	0.01
R4731:Zp2	UTSW	7	119,737,343 (GRCm39)	missense	probably damaging	0.96
R4732:Zp2	UTSW	7	119,737,343 (GRCm39)	missense	probably damaging	0.96
R4733:Zp2	UTSW	7	119,737,343 (GRCm39)	missense	probably damaging	0.96
R4754:Zp2	UTSW	7	119,737,541 (GRCm39)	missense	probably benign	0.01
R4863:Zp2	UTSW	7	119,734,995 (GRCm39)	missense	probably damaging	1.00
R5274:Zp2	UTSW	7	119,737,315 (GRCm39)	missense	possibly damaging	0.92
R5392:Zp2	UTSW	7	119,734,987 (GRCm39)	nonsense	probably null
R5877:Zp2	UTSW	7	119,732,562 (GRCm39)	missense	probably null	0.94
R6390:Zp2	UTSW	7	119,740,453 (GRCm39)	missense	probably benign	0.23
R6404:Zp2	UTSW	7	119,734,765 (GRCm39)	missense	possibly damaging	0.73
R6546:Zp2	UTSW	7	119,731,748 (GRCm39)	missense	probably benign	0.00
R6622:Zp2	UTSW	7	119,741,136 (GRCm39)	missense	probably benign
R6622:Zp2	UTSW	7	119,731,748 (GRCm39)	missense	probably benign	0.00
R6707:Zp2	UTSW	7	119,733,145 (GRCm39)	missense	possibly damaging	0.85
R7274:Zp2	UTSW	7	119,731,614 (GRCm39)	makesense	probably null
R7275:Zp2	UTSW	7	119,734,576 (GRCm39)	splice site	probably null
R7541:Zp2	UTSW	7	119,735,279 (GRCm39)	missense	probably damaging	1.00
R7585:Zp2	UTSW	7	119,733,167 (GRCm39)	missense	probably damaging	1.00
R7709:Zp2	UTSW	7	119,734,998 (GRCm39)	missense	probably damaging	1.00
R7742:Zp2	UTSW	7	119,731,731 (GRCm39)	missense	unknown
R7767:Zp2	UTSW	7	119,736,392 (GRCm39)	missense	probably benign	0.01
R7771:Zp2	UTSW	7	119,742,865 (GRCm39)	missense	probably damaging	0.96
R8391:Zp2	UTSW	7	119,726,179 (GRCm39)	missense	probably benign	0.00
R8872:Zp2	UTSW	7	119,733,025 (GRCm39)	missense	probably benign	0.14
R8880:Zp2	UTSW	7	119,742,835 (GRCm39)	missense	possibly damaging	0.80
R9673:Zp2	UTSW	7	119,733,238 (GRCm39)	missense	probably damaging	1.00
X0017:Zp2	UTSW	7	119,732,608 (GRCm39)	missense	probably damaging	1.00
X0023:Zp2	UTSW	7	119,732,590 (GRCm39)	missense	probably damaging	1.00
Z1176:Zp2	UTSW	7	119,734,402 (GRCm39)	missense	not run
Z1177:Zp2	UTSW	7	119,734,432 (GRCm39)	missense	probably damaging	1.00
Z1177:Zp2	UTSW	7	119,734,402 (GRCm39)	missense	not run

Posted On

2012-12-06