Mutagenetix > Incidental Mutation

Incidental Mutation 'R1883:Zp2'

209268

Institutional Source

Beutler Lab

Gene Symbol

Zp2

Ensembl Gene

ENSMUSG00000030911

Gene Name

zona pellucida glycoprotein 2

Synonyms

Zp-2

MMRRC Submission

039904-MU

Accession Numbers

Essential gene?

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

Stock #

R1883 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119725995-119744514 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 119732624 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 641 (D641N)

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: D641N

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000033207
Gene: ENSMUSG00000030911
AA Change: D641N

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: D641N

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano9	T	C	7: 140,682,244 (GRCm39)	E677G	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bhmt1b	T	C	18: 87,774,669 (GRCm39)	L64P	probably damaging	Het
Brs3	T	C	X: 56,092,449 (GRCm39)	I311T	probably benign	Het
Capn9	A	G	8: 125,338,297 (GRCm39)	K552R	probably benign	Het
Catsperg1	C	T	7: 28,881,661 (GRCm39)		probably null	Het
Cdc16	A	G	8: 13,825,738 (GRCm39)	N449D	probably damaging	Het
Cdyl2	A	T	8: 117,321,902 (GRCm39)	N208K	probably damaging	Het
Cnot4	C	T	6: 35,055,092 (GRCm39)	V66I	probably damaging	Het
Cntn4	A	G	6: 106,656,353 (GRCm39)	T885A	probably benign	Het
Col20a1	C	T	2: 180,634,703 (GRCm39)	T131I	possibly damaging	Het
Crybg2	C	A	4: 133,801,594 (GRCm39)	S918*	probably null	Het
Dact2	A	T	17: 14,418,085 (GRCm39)	S207T	possibly damaging	Het
Dbnl	G	A	11: 5,749,247 (GRCm39)	G356E	probably benign	Het
Ddx18	C	A	1: 121,495,645 (GRCm39)		probably benign	Het
Dis3	A	T	14: 99,328,905 (GRCm39)	H282Q	probably benign	Het
Dnah3	T	C	7: 119,677,142 (GRCm39)	D453G	probably benign	Het
Dst	T	C	1: 34,228,389 (GRCm39)	V1994A	possibly damaging	Het
Dusp8	C	T	7: 141,638,085 (GRCm39)		probably null	Het
Eipr1	A	T	12: 28,816,850 (GRCm39)	H69L	possibly damaging	Het
Eml1	A	G	12: 108,429,911 (GRCm39)	R65G	probably damaging	Het
Epha7	C	T	4: 28,950,362 (GRCm39)	H722Y	possibly damaging	Het
Epyc	A	T	10: 97,511,695 (GRCm39)	K229N	possibly damaging	Het
Extl1	A	G	4: 134,091,917 (GRCm39)	I312T	probably benign	Het
F13a1	G	C	13: 37,172,981 (GRCm39)	A133G	probably benign	Het
Fam185a	G	T	5: 21,630,242 (GRCm39)	C26F	possibly damaging	Het
Fam186b	T	C	15: 99,176,679 (GRCm39)	N737S	probably damaging	Het
Fam78b	A	G	1: 166,829,171 (GRCm39)	I13V	probably benign	Het
Fat1	A	T	8: 45,504,184 (GRCm39)	Q4559L	probably benign	Het
Fnip1	T	C	11: 54,406,373 (GRCm39)	S1157P	probably damaging	Het
Foxj3	A	C	4: 119,467,226 (GRCm39)	M190L	probably benign	Het
Heatr3	T	C	8: 88,871,221 (GRCm39)	Y192H	possibly damaging	Het
Hexd	T	A	11: 121,098,524 (GRCm39)	S3T	probably benign	Het
Klf3	C	T	5: 64,980,224 (GRCm39)	P5S	probably damaging	Het
Klf9	C	T	19: 23,142,101 (GRCm39)	S187L	probably damaging	Het
Krt9	T	C	11: 100,079,523 (GRCm39)	H623R	unknown	Het
Krtap2-4	G	C	11: 99,505,505 (GRCm39)		probably benign	Het
Lmtk3	T	C	7: 45,436,273 (GRCm39)	Y84H	probably damaging	Het
Mroh3	G	T	1: 136,134,731 (GRCm39)	A166D	probably damaging	Het
Musk	C	A	4: 58,373,189 (GRCm39)	P697T	probably benign	Het
Nek9	A	G	12: 85,379,330 (GRCm39)	L192P	probably damaging	Het
Nipbl	A	C	15: 8,356,616 (GRCm39)	F1590C	probably damaging	Het
Nrk	G	T	X: 137,907,922 (GRCm39)	V1455F	probably damaging	Het
Nsun3	T	C	16: 62,555,656 (GRCm39)	D290G	probably damaging	Het
Obscn	T	C	11: 58,969,029 (GRCm39)	T222A	probably damaging	Het
Or2a12	T	C	6: 42,904,764 (GRCm39)	S200P	probably damaging	Het
Or51f1d	T	C	7: 102,701,189 (GRCm39)	I228T	probably benign	Het
Or6b9	T	C	7: 106,555,981 (GRCm39)	H54R	probably benign	Het
Osbpl11	T	G	16: 33,034,723 (GRCm39)	H237Q	probably benign	Het
Pde10a	A	T	17: 9,197,776 (GRCm39)	T671S	possibly damaging	Het
Pkd2	A	T	5: 104,631,094 (GRCm39)	N506I	probably damaging	Het
Ppp3cb	A	G	14: 20,573,913 (GRCm39)	V274A	possibly damaging	Het
Prex1	T	C	2: 166,425,192 (GRCm39)	D938G	probably benign	Het
Ptch1	G	A	13: 63,659,841 (GRCm39)	Q1134*	probably null	Het
Rasgrf2	A	G	13: 92,117,149 (GRCm39)	V820A	probably benign	Het
Rimbp2	C	T	5: 128,880,998 (GRCm39)	V137M	possibly damaging	Het
Rpa1	A	G	11: 75,209,309 (GRCm39)	V137A	probably benign	Het
Rps6ka1	A	C	4: 133,591,354 (GRCm39)	I299S	probably damaging	Het
Scn3b	A	C	9: 40,190,669 (GRCm39)		probably null	Het
Sdha	A	T	13: 74,481,255 (GRCm39)	I317N	probably damaging	Het
Serpina1d	T	A	12: 103,732,037 (GRCm39)	D274V	possibly damaging	Het
Sik3	C	G	9: 46,132,387 (GRCm39)	H1276Q	probably benign	Het
Snx14	T	A	9: 88,284,314 (GRCm39)	E451D	probably benign	Het
Spmip4	T	C	6: 50,551,433 (GRCm39)	T339A	probably benign	Het
Swt1	T	A	1: 151,299,284 (GRCm39)	K8*	probably null	Het
Tas1r3	G	T	4: 155,946,610 (GRCm39)	P332T	probably damaging	Het
Tas2r126	A	T	6: 42,411,961 (GRCm39)	T165S	probably benign	Het
Tecpr1	A	G	5: 144,143,347 (GRCm39)	V676A	probably benign	Het
Tg	A	G	15: 66,543,158 (GRCm39)	E24G	probably damaging	Het
Tlr7	C	T	X: 166,089,468 (GRCm39)	G673S	probably benign	Het
Tnxb	T	A	17: 34,908,539 (GRCm39)	D1520E	probably benign	Het
Trabd	A	G	15: 88,966,184 (GRCm39)	E47G	probably damaging	Het
Trim29	T	A	9: 43,222,702 (GRCm39)	I177N	probably damaging	Het
Ubxn2a	A	T	12: 4,944,563 (GRCm39)	L53*	probably null	Het
Ulk2	A	G	11: 61,721,438 (GRCm39)	L208P	probably damaging	Het
Unc80	G	A	1: 66,564,929 (GRCm39)	C872Y	possibly damaging	Het
Vac14	A	G	8: 111,438,319 (GRCm39)	H644R	probably damaging	Het
Vmn1r20	C	A	6: 57,409,306 (GRCm39)	H211N	probably benign	Het
Vmn1r31	C	T	6: 58,449,029 (GRCm39)	V279I	probably damaging	Het
Vmn2r18	G	T	5: 151,499,190 (GRCm39)	Q425K	probably benign	Het
Vmn2r60	T	C	7: 41,786,094 (GRCm39)	V299A	probably damaging	Het
Vps54	A	T	11: 21,262,967 (GRCm39)	T685S	possibly damaging	Het
Vwa5b1	A	G	4: 138,302,700 (GRCm39)	W932R	probably damaging	Het
Wdr53	A	T	16: 32,075,316 (GRCm39)	I174F	possibly damaging	Het
Zfp157	A	G	5: 138,443,102 (GRCm39)	D31G	probably damaging	Het
Zfp60	T	C	7: 27,449,435 (GRCm39)	L701P	probably benign	Het
Zfp609	A	T	9: 65,702,040 (GRCm39)	M204K	probably benign	Het
Zfp831	A	G	2: 174,545,870 (GRCm39)	H1325R	possibly damaging	Het
Zfp995	A	T	17: 22,099,622 (GRCm39)	I204N	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
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

Predicted Primers

PCR Primer
(F):5'- ATTTTCTGGAGAGCACACAAAAGG -3'
(R):5'- TTCACTAGTGTGGCATCCTG -3'

Sequencing Primer
(F):5'- CTGGAGAGCACACAAAAGGTTCAAG -3'
(R):5'- CACTAGTGTGGCATCCTGAGATGTAC -3'

Posted On

2014-06-30