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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R6390 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120126772-120145291 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 120141230 bp (GRCm38)

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: 75,187,981	P113Q	probably damaging	Het
Ccdc150	A	G	1: 54,368,017	D1073G	probably benign	Het
Cd8a	A	G	6: 71,373,929	Y126C	probably damaging	Het
Cdca8	A	G	4: 124,936,375	M68T	probably damaging	Het
Cyp2d26	G	A	15: 82,792,624	P174S	possibly damaging	Het
Esco1	T	G	18: 10,567,528	N311H	probably damaging	Het
Evx1	A	G	6: 52,315,857	M183V	probably benign	Het
Fam111a	T	G	19: 12,588,160	Y424*	probably null	Het
Fat4	T	C	3: 38,980,380	I2727T	probably damaging	Het
Ggt6	T	A	11: 72,436,611	Y107N	possibly damaging	Het
Habp2	G	C	19: 56,306,823	E49Q	possibly damaging	Het
Hibadh	A	C	6: 52,556,489	L214R	probably damaging	Het
Ift57	T	G	16: 49,762,473		probably null	Het
Irak4	T	C	15: 94,561,486	S328P	probably damaging	Het
Krtap6-2	A	T	16: 89,419,946	Y44*	probably null	Het
Lrrc46	T	C	11: 97,040,931	T22A	probably damaging	Het
Muc2	G	T	7: 141,752,146	V230L	probably damaging	Het
Ncan	T	C	8: 70,115,249	D71G	probably benign	Het
Nsd2	T	C	5: 33,881,181	S779P	probably damaging	Het
Rps6ka5	G	T	12: 100,570,992	T493K	probably damaging	Het
Slc6a21	A	T	7: 45,287,002	M135L	probably benign	Het
Sprtn	A	G	8: 124,903,219	N417S	probably benign	Het
Trim61	T	A	8: 65,014,190	M140L	probably benign	Het
Vars	C	A	17: 35,015,639	A1148E	probably benign	Het
Vmn2r106	C	T	17: 20,268,463	C558Y	probably damaging	Het
Vmn2r112	T	C	17: 22,605,249	V495A	probably benign	Het
Vmn2r117	A	T	17: 23,460,114	V712E	possibly damaging	Het
Wdfy4	T	C	14: 33,104,094	D1200G	probably damaging	Het
Wdr63	A	G	3: 146,095,388	L105P	probably damaging	Het
Zbtb6	A	T	2: 37,428,678	S413T	probably benign	Het

Other mutations in Zp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Zp2	APN	7	120133400	missense	probably benign	0.00
IGL00707:Zp2	APN	7	120133413	missense	probably benign	0.03
IGL00916:Zp2	APN	7	120138174	missense	probably damaging	1.00
IGL01554:Zp2	APN	7	120138325	missense	possibly damaging	0.78
IGL01845:Zp2	APN	7	120138191	missense	probably damaging	1.00
IGL02111:Zp2	APN	7	120132418	missense	possibly damaging	0.75
IGL02145:Zp2	APN	7	120139851	critical splice acceptor site	probably null
IGL02155:Zp2	APN	7	120144117	missense	probably benign	0.00
IGL02178:Zp2	APN	7	120133750	missense	possibly damaging	0.85
IGL02646:Zp2	APN	7	120135341	missense	possibly damaging	0.92
IGL03220:Zp2	APN	7	120137227	missense	possibly damaging	0.90
PIT4687001:Zp2	UTSW	7	120141879	missense	probably benign	0.00
R0138:Zp2	UTSW	7	120137200	missense	probably damaging	0.96
R0197:Zp2	UTSW	7	120143576	splice site	probably benign
R0519:Zp2	UTSW	7	120138149	missense	probably damaging	1.00
R0573:Zp2	UTSW	7	120135470	splice site	probably benign
R0879:Zp2	UTSW	7	120135534	missense	probably damaging	1.00
R0883:Zp2	UTSW	7	120143576	splice site	probably benign
R1160:Zp2	UTSW	7	120136045	missense	probably damaging	1.00
R1235:Zp2	UTSW	7	120138343	missense	possibly damaging	0.57
R1753:Zp2	UTSW	7	120138105	missense	probably benign
R1883:Zp2	UTSW	7	120133401	missense	probably benign	0.02
R1995:Zp2	UTSW	7	120135165	missense	probably damaging	0.97
R2196:Zp2	UTSW	7	120138306	missense	probably benign
R2850:Zp2	UTSW	7	120138306	missense	probably benign
R3715:Zp2	UTSW	7	120141834	missense	possibly damaging	0.95
R3931:Zp2	UTSW	7	120132357	intron	probably benign
R4082:Zp2	UTSW	7	120135252	missense	probably benign	0.01
R4731:Zp2	UTSW	7	120138120	missense	probably damaging	0.96
R4732:Zp2	UTSW	7	120138120	missense	probably damaging	0.96
R4733:Zp2	UTSW	7	120138120	missense	probably damaging	0.96
R4754:Zp2	UTSW	7	120138318	missense	probably benign	0.01
R4863:Zp2	UTSW	7	120135772	missense	probably damaging	1.00
R5274:Zp2	UTSW	7	120138092	missense	possibly damaging	0.92
R5392:Zp2	UTSW	7	120135764	nonsense	probably null
R5877:Zp2	UTSW	7	120133339	missense	probably null	0.94
R6404:Zp2	UTSW	7	120135542	missense	possibly damaging	0.73
R6546:Zp2	UTSW	7	120132525	missense	probably benign	0.00
R6622:Zp2	UTSW	7	120132525	missense	probably benign	0.00
R6622:Zp2	UTSW	7	120141913	missense	probably benign
R6707:Zp2	UTSW	7	120133922	missense	possibly damaging	0.85
R7274:Zp2	UTSW	7	120132391	makesense	probably null
R7275:Zp2	UTSW	7	120135353	splice site	probably null
R7541:Zp2	UTSW	7	120136056	missense	probably damaging	1.00
R7585:Zp2	UTSW	7	120133944	missense	probably damaging	1.00
R7709:Zp2	UTSW	7	120135775	missense	probably damaging	1.00
R7742:Zp2	UTSW	7	120132508	missense	unknown
R7767:Zp2	UTSW	7	120137169	missense	probably benign	0.01
R7771:Zp2	UTSW	7	120143642	missense	probably damaging	0.96
R8391:Zp2	UTSW	7	120126956	missense	probably benign	0.00
R8872:Zp2	UTSW	7	120133802	missense	probably benign	0.14
R8880:Zp2	UTSW	7	120143612	missense	possibly damaging	0.80
R9673:Zp2	UTSW	7	120134015	missense	probably damaging	1.00
X0017:Zp2	UTSW	7	120133385	missense	probably damaging	1.00
X0023:Zp2	UTSW	7	120133367	missense	probably damaging	1.00
Z1176:Zp2	UTSW	7	120135179	missense	not run
Z1177:Zp2	UTSW	7	120135179	missense	not run
Z1177:Zp2	UTSW	7	120135209	missense	probably damaging	1.00

Predicted Primers

Posted On

2018-05-04