Mutagenetix > Incidental Mutation

Incidental Mutation 'R4754:Zp2'

357811

Institutional Source

Beutler Lab

Gene Symbol

Zp2

Ensembl Gene

ENSMUSG00000030911

Gene Name

zona pellucida glycoprotein 2

Synonyms

Zp-2

Accession Numbers

Essential gene?

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

Stock #

R4754 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119725995-119744514 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119737541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 248 (V248A)

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: V248A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000033207
Gene: ENSMUSG00000030911
AA Change: V248A

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: V248A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208122

Predicted Effect

probably benign
Transcript: ENSMUST00000208874
AA Change: V248A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (107/109)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	A	G	1: 192,856,837 (GRCm39)	Y63C	probably damaging	Het
Abcb4	C	A	5: 8,960,717 (GRCm39)	F266L	probably damaging	Het
Adam8	A	T	7: 139,564,693 (GRCm39)	I681N	possibly damaging	Het
Adgrf3	T	A	5: 30,402,615 (GRCm39)		probably null	Het
Ang2	A	G	14: 51,432,974 (GRCm39)	V136A	probably damaging	Het
Ankar	C	T	1: 72,737,853 (GRCm39)	G110R	probably damaging	Het
Ap3b1	T	C	13: 94,540,468 (GRCm39)	L130P	probably damaging	Het
Apc2	T	G	10: 80,150,192 (GRCm39)	W1749G	probably benign	Het
Asb2	T	C	12: 103,290,096 (GRCm39)	N565S	possibly damaging	Het
B3gnt7	C	A	1: 86,233,279 (GRCm39)	T58K	probably benign	Het
Bltp1	C	T	3: 37,076,615 (GRCm39)	Q3663*	probably null	Het
Brpf1	T	A	6: 113,297,408 (GRCm39)	N876K	possibly damaging	Het
Ccdc157	T	C	11: 4,098,994 (GRCm39)	I69V	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdh20	A	T	1: 104,912,410 (GRCm39)	I555F	probably damaging	Het
Cfap73	T	C	5: 120,767,729 (GRCm39)	D274G	probably damaging	Het
Chd5	T	A	4: 152,462,203 (GRCm39)	I1310N	probably damaging	Het
Ckap2	T	A	8: 22,658,911 (GRCm39)	I611F	possibly damaging	Het
Cpeb2	A	G	5: 43,443,200 (GRCm39)	I964V	possibly damaging	Het
Ctbp2	C	A	7: 132,625,287 (GRCm39)		probably null	Het
Dhrs2	A	T	14: 55,476,205 (GRCm39)	I142F	probably damaging	Het
Dnah5	T	A	15: 28,421,101 (GRCm39)		probably null	Het
Dst	T	C	1: 34,251,390 (GRCm39)	S1822P	probably damaging	Het
Ect2	T	C	3: 27,181,112 (GRCm39)	K581E	probably damaging	Het
Edem1	C	T	6: 108,818,658 (GRCm39)	T222M	probably damaging	Het
Eif2ak1	A	G	5: 143,838,621 (GRCm39)	M592V	probably damaging	Het
Endou	T	G	15: 97,624,420 (GRCm39)	D49A	probably damaging	Het
Ensa	A	G	3: 95,529,865 (GRCm39)		probably benign	Het
Evc2	G	T	5: 37,544,375 (GRCm39)	R708L	probably damaging	Het
Fam120b	T	A	17: 15,643,224 (GRCm39)	C668S	probably damaging	Het
Fam135a	A	T	1: 24,067,835 (GRCm39)	C798*	probably null	Het
Fam135b	T	C	15: 71,334,800 (GRCm39)	D798G	probably benign	Het
Fshb	A	C	2: 106,887,627 (GRCm39)	*131E	probably null	Het
G3bp2	C	T	5: 92,202,768 (GRCm39)	V441M	possibly damaging	Het
Galnt6	A	T	15: 100,597,105 (GRCm39)	F354I	probably damaging	Het
Gm1123	C	A	9: 98,905,293 (GRCm39)		probably null	Het
Gm1123	A	T	9: 98,905,294 (GRCm39)		probably null	Het
Gm15130	T	C	2: 110,973,207 (GRCm39)	N115S	unknown	Het
Gm7104	A	G	12: 88,252,765 (GRCm39)		noncoding transcript	Het
Gm9762	A	T	3: 78,873,728 (GRCm39)		noncoding transcript	Het
Grip2	T	C	6: 91,756,173 (GRCm39)	T505A	probably damaging	Het
Grip2	A	G	6: 91,756,163 (GRCm39)	V508A	probably damaging	Het
Haus4	A	G	14: 54,787,349 (GRCm39)		probably null	Het
Herc1	T	A	9: 66,408,488 (GRCm39)	D4571E	probably benign	Het
Hnrnpk	T	A	13: 58,546,950 (GRCm39)		probably benign	Het
Ica1l	T	C	1: 60,067,321 (GRCm39)	Y23C	probably damaging	Het
Kansl2-ps	A	G	7: 72,322,881 (GRCm39)		noncoding transcript	Het
Kcnma1	T	C	14: 23,413,904 (GRCm39)	D833G	probably damaging	Het
Kmt2e	A	T	5: 23,687,439 (GRCm39)	I430F	possibly damaging	Het
Lama2	C	A	10: 26,994,527 (GRCm39)	R1794L	possibly damaging	Het
Mcpt1	T	A	14: 56,256,137 (GRCm39)	F59I	probably damaging	Het
Mib2	G	T	4: 155,739,822 (GRCm39)	T783K	possibly damaging	Het
Nlrp4g	T	C	9: 124,349,788 (GRCm38)		noncoding transcript	Het
Nudt16l2	A	T	9: 105,021,592 (GRCm39)	F151L	probably benign	Het
Obscn	T	C	11: 58,926,869 (GRCm39)	I6352V	possibly damaging	Het
Or2j6	C	T	7: 139,980,072 (GRCm39)	A296T	probably damaging	Het
Or4a72	A	T	2: 89,405,391 (GRCm39)	H226Q	probably benign	Het
Or4k1	T	A	14: 50,377,490 (GRCm39)	N202I	possibly damaging	Het
Or4k1	T	G	14: 50,377,491 (GRCm39)	N202H	probably benign	Het
Or52a5	T	C	7: 103,426,875 (GRCm39)	I226V	probably benign	Het
Or5b125-ps1	T	A	19: 13,056,225 (GRCm39)		noncoding transcript	Het
Pcdh10	G	A	3: 45,335,072 (GRCm39)	R462H	probably damaging	Het
Pcdhga12	C	A	18: 37,899,604 (GRCm39)	N145K	probably damaging	Het
Pik3r6	T	A	11: 68,435,601 (GRCm39)	L613Q	probably damaging	Het
Pknox2	T	C	9: 36,821,016 (GRCm39)	D282G	probably damaging	Het
Plod2	T	G	9: 92,488,584 (GRCm39)	Y624*	probably null	Het
Prkd3	C	A	17: 79,264,043 (GRCm39)	V684F	probably damaging	Het
Ptpn1	T	A	2: 167,816,080 (GRCm39)	V198D	probably damaging	Het
Ptpn12	G	T	5: 21,203,587 (GRCm39)	P397Q	probably benign	Het
Rad1	C	A	15: 10,493,212 (GRCm39)		probably benign	Het
Rasl11a	A	G	5: 146,783,825 (GRCm39)	D90G	probably benign	Het
Rnf181	A	G	6: 72,337,543 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,587,984 (GRCm39)	I2652M	possibly damaging	Het
Siglecg	C	T	7: 43,061,295 (GRCm39)		probably benign	Het
Slc22a3	T	C	17: 12,726,082 (GRCm39)	S44G	probably benign	Het
Slc38a1	A	T	15: 96,474,663 (GRCm39)	F463I	probably damaging	Het
Smg1	A	T	7: 117,755,954 (GRCm39)		probably benign	Het
Syk	T	C	13: 52,766,295 (GRCm39)		probably benign	Het
Tasor	A	T	14: 27,183,052 (GRCm39)	I504L	probably benign	Het
Tbc1d5	T	C	17: 51,107,193 (GRCm39)	I454M	probably benign	Het
Tmed6	C	A	8: 107,790,362 (GRCm39)	D146Y	probably damaging	Het
Tmem132e	A	T	11: 82,335,677 (GRCm39)	K828*	probably null	Het
Tmprss15	A	T	16: 78,851,012 (GRCm39)	S294T	probably damaging	Het
Trp53bp1	A	G	2: 121,038,360 (GRCm39)	S1493P	probably damaging	Het
Tshb	A	T	3: 102,685,491 (GRCm39)	I46N	probably damaging	Het
Tspan11	T	C	6: 127,915,183 (GRCm39)	V99A	probably benign	Het
Ttn	T	C	2: 76,545,905 (GRCm39)	T24176A	probably benign	Het
Vmn1r8	T	C	6: 57,012,952 (GRCm39)	M1T	probably null	Het
Vmn2r104	A	T	17: 20,261,030 (GRCm39)	Y464*	probably null	Het
Vmn2r110	T	C	17: 20,816,458 (GRCm39)	T22A	probably benign	Het
Vmn2r17	T	A	5: 109,600,715 (GRCm39)	I671K	probably damaging	Het
Zbtb21	T	C	16: 97,752,466 (GRCm39)	N606D	probably damaging	Het
Zfy2	A	T	Y: 2,121,477 (GRCm39)	S139T	probably benign	Het
Zkscan17	G	A	11: 59,393,851 (GRCm39)	R156*	probably null	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
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'- ACAGACTCTAGCTTCCCAGG -3'
(R):5'- GGTCAATATCAGAGCCCTTTGAATG -3'

Sequencing Primer
(F):5'- AGACTCTAGCTTCCCAGGAAATTCTG -3'
(R):5'- CAGAGCCCTTTGAATGTGATTGGAC -3'

Posted On

2015-11-11