Mutagenetix > Incidental Mutation

Incidental Mutation 'R6390:Zp2'

515727

Institutional Source

Beutler Lab

Gene Symbol

Zp2

Ensembl Gene

ENSMUSG00000030911

Gene Name

zona pellucida glycoprotein 2

Synonyms

Zp-2

MMRRC Submission

044539-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R6390 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119725995-119744514 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 119740453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 170 (N170K)

Ref Sequence

ENSEMBL: ENSMUSP00000146926 (fasta)

Gene Model

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

AlphaFold

P20239

Predicted Effect

probably benign
Transcript: ENSMUST00000033207
AA Change: N170K

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000033207
Gene: ENSMUSG00000030911
AA Change: N170K

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

noncoding transcript
Transcript: ENSMUST00000207333

Predicted Effect

probably benign
Transcript: ENSMUST00000207726
AA Change: N170K

PolyPhen 2 Score 0.234 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208122

Predicted Effect

probably benign
Transcript: ENSMUST00000208874
AA Change: N170K

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.4%

Validation Efficiency

100% (29/29)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg9a	G	T	1: 75,164,625 (GRCm39)	P113Q	probably damaging	Het
Ccdc150	A	G	1: 54,407,176 (GRCm39)	D1073G	probably benign	Het
Cd8a	A	G	6: 71,350,913 (GRCm39)	Y126C	probably damaging	Het
Cdca8	A	G	4: 124,830,168 (GRCm39)	M68T	probably damaging	Het
Cyp2d26	G	A	15: 82,676,825 (GRCm39)	P174S	possibly damaging	Het
Dnai3	A	G	3: 145,801,143 (GRCm39)	L105P	probably damaging	Het
Esco1	T	G	18: 10,567,528 (GRCm39)	N311H	probably damaging	Het
Evx1	A	G	6: 52,292,842 (GRCm39)	M183V	probably benign	Het
Fam111a	T	G	19: 12,565,524 (GRCm39)	Y424*	probably null	Het
Fat4	T	C	3: 39,034,529 (GRCm39)	I2727T	probably damaging	Het
Ggt6	T	A	11: 72,327,437 (GRCm39)	Y107N	possibly damaging	Het
Habp2	G	C	19: 56,295,255 (GRCm39)	E49Q	possibly damaging	Het
Hibadh	A	C	6: 52,533,474 (GRCm39)	L214R	probably damaging	Het
Ift57	T	G	16: 49,582,836 (GRCm39)		probably null	Het
Irak4	T	C	15: 94,459,367 (GRCm39)	S328P	probably damaging	Het
Krtap6-2	A	T	16: 89,216,834 (GRCm39)	Y44*	probably null	Het
Lrrc46	T	C	11: 96,931,757 (GRCm39)	T22A	probably damaging	Het
Muc2	G	T	7: 141,305,883 (GRCm39)	V230L	probably damaging	Het
Ncan	T	C	8: 70,567,899 (GRCm39)	D71G	probably benign	Het
Nsd2	T	C	5: 34,038,525 (GRCm39)	S779P	probably damaging	Het
Rps6ka5	G	T	12: 100,537,251 (GRCm39)	T493K	probably damaging	Het
Slc6a21	A	T	7: 44,936,426 (GRCm39)	M135L	probably benign	Het
Sprtn	A	G	8: 125,629,958 (GRCm39)	N417S	probably benign	Het
Trim61	T	A	8: 65,466,842 (GRCm39)	M140L	probably benign	Het
Vars1	C	A	17: 35,234,615 (GRCm39)	A1148E	probably benign	Het
Vmn2r106	C	T	17: 20,488,725 (GRCm39)	C558Y	probably damaging	Het
Vmn2r112	T	C	17: 22,824,230 (GRCm39)	V495A	probably benign	Het
Vmn2r117	A	T	17: 23,679,088 (GRCm39)	V712E	possibly damaging	Het
Wdfy4	T	C	14: 32,826,051 (GRCm39)	D1200G	probably damaging	Het
Zbtb6	A	T	2: 37,318,690 (GRCm39)	S413T	probably benign	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
IGL00707:Zp2	APN	7	119,732,636 (GRCm39)	missense	probably benign	0.03
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
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

Predicted Primers

Posted On

2018-05-04