Mutagenetix > Incidental Mutation

Incidental Mutation 'R7771:Zp2'

598572

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 #

R7771 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120126772-120145291 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 120143642 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 89 (D89A)

Ref Sequence

ENSEMBL: ENSMUSP00000033207 (fasta)

Gene Model

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

AlphaFold

P20239

Predicted Effect

probably damaging
Transcript: ENSMUST00000033207
AA Change: D89A

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000033207
Gene: ENSMUSG00000030911
AA Change: D89A

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 damaging
Transcript: ENSMUST00000207726
AA Change: D89A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208874
AA Change: D89A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.5061

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (56/56)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,239,191	A1287T	probably damaging	Het
Ahnak	A	G	19: 9,015,047	K4565R	probably damaging	Het
Asb13	A	G	13: 3,649,463	Y221C	probably damaging	Het
BB014433	C	T	8: 15,042,395	V153M	probably damaging	Het
Brip1	T	C	11: 86,062,024	E977G	probably benign	Het
C3	T	A	17: 57,215,797	D1029V	probably damaging	Het
Ccdc116	T	C	16: 17,139,591	E568G	probably benign	Het
Cdhr2	T	C	13: 54,718,275	V296A	probably damaging	Het
Cenpe	A	G	3: 135,240,941		probably null	Het
Cnot1	A	G	8: 95,765,125	V357A	probably damaging	Het
Coa3	A	T	11: 101,278,815	M38K	possibly damaging	Het
Cyp2d26	T	C	15: 82,791,746	N255S	probably benign	Het
Cysrt1	T	C	2: 25,239,225	S92G	probably benign	Het
D030056L22Rik	A	G	19: 18,713,478	E52G	possibly damaging	Het
Derl1	T	C	15: 57,880,040	D97G	probably damaging	Het
Ebf3	A	G	7: 137,309,363	Y141H	probably damaging	Het
Eci1	T	A	17: 24,433,151	L49*	probably null	Het
Fam208a	A	G	14: 27,467,559	T923A	probably damaging	Het
Gm7534	A	T	4: 134,195,443	N526K	probably benign	Het
Gzma	C	T	13: 113,098,295	C54Y	probably damaging	Het
Hydin	A	G	8: 110,565,085	N3403S	probably damaging	Het
Ide	T	C	19: 37,298,126	N495D		Het
Ighv1-23	T	A	12: 114,764,736	Q22L	probably benign	Het
Itgb2l	A	G	16: 96,426,972	C444R	probably damaging	Het
Kcnj3	C	A	2: 55,446,937	H272N	probably damaging	Het
Lrp6	C	T	6: 134,462,616	C1218Y	probably damaging	Het
Lrrd1	T	C	5: 3,866,476	M831T	possibly damaging	Het
Map3k11	A	G	19: 5,690,608	E121G	probably damaging	Het
Mzt1	A	T	14: 99,040,576	I52N	probably damaging	Het
Olfr339	T	C	2: 36,422,144	S249P	possibly damaging	Het
Olfr617	A	G	7: 103,584,090	I23V	probably benign	Het
Olfr857	T	A	9: 19,713,471	F215I	probably benign	Het
Pcdhb17	A	C	18: 37,486,909	Y584S	possibly damaging	Het
Per3	A	T	4: 151,026,200	D380E	probably damaging	Het
Per3	A	T	4: 151,041,445	L139Q	probably damaging	Het
Pik3cg	T	C	12: 32,204,014	H658R	probably benign	Het
Pitpnm3	G	A	11: 72,061,488	Q626*	probably null	Het
Polr3e	T	C	7: 120,940,578	V542A	probably benign	Het
Rgs22	T	A	15: 36,050,078	H866L	possibly damaging	Het
Rnf150	A	G	8: 82,864,203	E65G	probably benign	Het
Sema3f	C	A	9: 107,692,426	R100L	possibly damaging	Het
Smim18	T	C	8: 33,742,342	D83G	possibly damaging	Het
Snx13	T	A	12: 35,124,528	D685E	probably benign	Het
Stat5a	A	C	11: 100,863,219	N125T	probably benign	Het
Stk24	T	C	14: 121,337,633	E21G	probably damaging	Het
Tlr3	C	T	8: 45,403,039	V35I	probably benign	Het
Tmem8	T	C	17: 26,122,073	Y717H	probably damaging	Het
Tmprss11b	A	T	5: 86,661,695		probably null	Het
Trpm2	T	C	10: 77,932,179	I829V	probably benign	Het
Ttc37	A	G	13: 76,135,030	H792R	probably benign	Het
Ttc39a	T	C	4: 109,431,450	Y276H	probably damaging	Het
Vmn2r98	T	A	17: 19,067,198		probably null	Het
Wdr73	G	A	7: 80,893,227	A211V	probably benign	Het
Zc3h4	T	C	7: 16,429,899	V673A	unknown	Het
Zfp382	A	G	7: 30,133,335	H137R	probably damaging	Het
Zranb3	A	C	1: 128,032,868	Y220D	probably damaging	Het
Zswim8	G	A	14: 20,712,980	V316I	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
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
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
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

PCR Primer
(F):5'- ATCAAAAGTTTCCTCTGGGTATGCC -3'
(R):5'- TCCAGTGGGAAACTTCTGGG -3'

Sequencing Primer
(F):5'- TCCTCTGGGTATGCCAGTAATACAAC -3'
(R):5'- GGAAACTTCTGGGTGTAAGTCAC -3'

Posted On

2019-11-26