Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02111:Zp2'

280141

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

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL02111

Quality Score

Status

Chromosome

Chromosomal Location

120126772-120145291 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120132418 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 705 (K705E)

Ref Sequence

ENSEMBL: ENSMUSP00000033207 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033207
AA Change: K705E

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000033207
Gene: ENSMUSG00000030911
AA Change: K705E

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

probably benign
Transcript: ENSMUST00000208874

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530077C05Rik	T	C	9: 22,424,179	I31T	probably benign	Het
Adgrg3	G	A	8: 95,034,999	R130Q	probably damaging	Het
Adipor2	A	T	6: 119,370,196	L42*	probably null	Het
Ankrd45	A	G	1: 161,163,351	K259E	probably damaging	Het
Apoc3	T	C	9: 46,234,474	K79R	possibly damaging	Het
Arhgap40	T	C	2: 158,539,844	Y416H	probably damaging	Het
Armc5	A	G	7: 128,244,083	T683A	probably benign	Het
Bora	T	C	14: 99,047,377	V21A	probably damaging	Het
Cacna1b	C	T	2: 24,606,991	S2189N	probably damaging	Het
Cct2	G	A	10: 117,053,112	T57I	probably damaging	Het
Cd200r1	A	T	16: 44,788,781	N34Y	probably damaging	Het
Cd300ld2	T	A	11: 115,012,393		probably benign	Het
Cntnap5a	G	A	1: 116,089,352	R225H	probably benign	Het
Cntnap5c	A	T	17: 58,102,108	D447V	probably damaging	Het
Cpne7	T	C	8: 123,125,653		probably benign	Het
Dap3	G	A	3: 88,929,418	T92I	probably benign	Het
Dnmbp	A	G	19: 43,867,555	L254P	probably damaging	Het
Egfem1	G	A	3: 29,650,896		probably null	Het
Fam120b	T	C	17: 15,402,585	L275P	possibly damaging	Het
Fam161a	A	T	11: 23,020,026	H68L	probably benign	Het
Fam193a	A	G	5: 34,410,657	E100G	possibly damaging	Het
Ftmt	A	T	18: 52,332,053	D147V	possibly damaging	Het
Gm10136	T	C	19: 29,003,722	K41E	probably benign	Het
Gm10797	C	T	10: 67,572,567		noncoding transcript	Het
Hsf1	A	G	15: 76,496,081		probably benign	Het
Ipo8	A	G	6: 148,799,780	V514A	probably damaging	Het
Itfg2	T	C	6: 128,410,381	H422R	probably benign	Het
Lrp4	G	T	2: 91,506,059	L1738F	probably damaging	Het
Mettl17	A	G	14: 51,891,386	E371G	probably damaging	Het
Mfsd6	A	T	1: 52,708,344	L454Q	probably damaging	Het
Myh10	A	T	11: 68,790,112	E956V	probably damaging	Het
Ncoa1	A	T	12: 4,274,944	M1K	probably null	Het
Olfr1163	T	A	2: 88,071,227	N52Y	probably benign	Het
Olfr677	A	G	7: 105,056,945	D233G	probably benign	Het
Olfr709-ps1	A	C	7: 106,926,616	V281G	probably damaging	Het
Otop1	T	A	5: 38,277,701	C89S	probably benign	Het
Pitrm1	G	T	13: 6,573,145	R775L	probably benign	Het
Prpf19	A	G	19: 10,905,094	T512A	probably benign	Het
Prpf4b	T	A	13: 34,883,961	S258T	probably benign	Het
Rhbdl2	T	C	4: 123,822,837	Y196H	probably damaging	Het
Rnf187	T	C	11: 58,937,180	D148G	probably damaging	Het
Sbds	A	G	5: 130,250,941	I74T	probably damaging	Het
Sec63	T	C	10: 42,810,888	V468A	probably damaging	Het
Slc35b3	A	T	13: 38,955,782	M23K	probably damaging	Het
Slc6a9	A	T	4: 117,864,013	Y208F	probably benign	Het
Slfn8	A	T	11: 83,004,498	L494Q	probably damaging	Het
Sorcs1	T	G	19: 50,230,245	M600L	probably benign	Het
Supt7l	T	C	5: 31,515,678		probably null	Het
Tecrl	T	A	5: 83,354,792	Q70L	probably damaging	Het
Tedc2	A	T	17: 24,218,166		probably benign	Het
Tespa1	A	G	10: 130,355,484	D99G	probably damaging	Het
Tmem126b	G	T	7: 90,469,061	Q204K	probably damaging	Het
Tmem181c-ps	A	T	17: 6,620,367		noncoding transcript	Het
Tmem184a	G	T	5: 139,813,101	T31K	possibly damaging	Het
Tmprss11e	T	A	5: 86,719,801	I137F	possibly damaging	Het
Tmprss13	C	T	9: 45,336,105	T255I	probably damaging	Het
Top1mt	G	A	15: 75,665,706		probably benign	Het
Treh	C	T	9: 44,682,961	T168I	probably benign	Het
Ttn	A	T	2: 76,767,328	I11420N	probably benign	Het
Zw10	T	C	9: 49,068,754	I395T	probably damaging	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
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
R6390:Zp2	UTSW	7	120141230	missense	probably benign	0.23
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
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

Posted On

2015-04-16