Incidental Mutation 'R4863:Zp2'
ID 374656
Institutional Source Beutler Lab
Gene Symbol Zp2
Ensembl Gene ENSMUSG00000030911
Gene Name zona pellucida glycoprotein 2
Synonyms Zp-2
MMRRC Submission 042473-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R4863 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 119725995-119744514 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 119734995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 430 (Y430S)
Ref Sequence ENSEMBL: ENSMUSP00000147097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033207] [ENSMUST00000207726] [ENSMUST00000208874]
AlphaFold P20239
Predicted Effect probably damaging
Transcript: ENSMUST00000033207
AA Change: Y430S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033207
Gene: ENSMUSG00000030911
AA Change: Y430S

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208122
Predicted Effect probably damaging
Transcript: ENSMUST00000208874
AA Change: Y430S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.8275 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 99% (105/106)
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik C T 14: 64,210,658 (GRCm39) R190H probably benign Het
Abcc12 T A 8: 87,265,005 (GRCm39) I647F probably damaging Het
Acnat2 C A 4: 49,380,172 (GRCm39) W384L probably damaging Het
Acvr1 A G 2: 58,367,723 (GRCm39) L146P possibly damaging Het
Ankrd16 T A 2: 11,789,127 (GRCm39) M238K probably benign Het
Clmn A T 12: 104,763,353 (GRCm39) I91N probably damaging Het
Cog8 A T 8: 107,776,806 (GRCm39) L523H probably damaging Het
Cpxm2 T A 7: 131,661,476 (GRCm39) K437M probably benign Het
Dhx57 A T 17: 80,560,540 (GRCm39) V999E probably damaging Het
Dnpep T C 1: 75,285,874 (GRCm39) probably benign Het
Dok3 G A 13: 55,671,270 (GRCm39) R434W probably damaging Het
Dpysl5 C T 5: 30,941,687 (GRCm39) H275Y probably benign Het
Ednra A T 8: 78,394,012 (GRCm39) N361K probably damaging Het
Ei24 A T 9: 36,695,861 (GRCm39) S210R probably damaging Het
Erich3 T A 3: 154,470,441 (GRCm39) V158E unknown Het
Fam193a T A 5: 34,623,549 (GRCm39) V1379E possibly damaging Het
Fasn A G 11: 120,699,654 (GRCm39) V2304A probably damaging Het
Fcgbp A C 7: 27,785,769 (GRCm39) D402A probably benign Het
Fkbp14 T C 6: 54,562,930 (GRCm39) probably benign Het
Fnip1 G A 11: 54,406,382 (GRCm39) V1160I possibly damaging Het
Fsd2 T C 7: 81,202,712 (GRCm39) K289R probably null Het
Fuca2 A T 10: 13,381,651 (GRCm39) D188V probably damaging Het
Gfpt2 T C 11: 49,701,797 (GRCm39) V116A probably benign Het
Gm10770 T A 2: 150,020,816 (GRCm39) K234* probably null Het
Gm9887 A G 12: 69,418,763 (GRCm39) probably benign Het
Gtf3c2 A G 5: 31,316,577 (GRCm39) probably benign Het
H2-M10.3 T C 17: 36,677,528 (GRCm39) D250G probably damaging Het
Hapln4 G A 8: 70,537,142 (GRCm39) V26M possibly damaging Het
Hook3 G A 8: 26,528,057 (GRCm39) A611V probably damaging Het
Hr T C 14: 70,809,412 (GRCm39) L1141P probably damaging Het
Ifngr1 T C 10: 19,485,164 (GRCm39) S388P probably damaging Het
Itga3 T A 11: 94,952,793 (GRCm39) Q326L probably damaging Het
Itgb3 T A 11: 104,556,346 (GRCm39) I729N probably damaging Het
Kcnab2 A G 4: 152,486,403 (GRCm39) S132P probably damaging Het
Lama3 C T 18: 12,672,850 (GRCm39) A2481V probably damaging Het
Lama3 T C 18: 12,631,735 (GRCm39) probably benign Het
Lce1e A T 3: 92,615,178 (GRCm39) C56* probably null Het
Lmcd1 T C 6: 112,264,832 (GRCm39) probably benign Het
Lrrc14 T A 15: 76,597,562 (GRCm39) probably null Het
Lypd8l A T 11: 58,503,338 (GRCm39) probably null Het
Map4k5 G A 12: 69,865,212 (GRCm39) P591L probably benign Het
Mapk13 C A 17: 28,995,284 (GRCm39) D168E probably damaging Het
Marf1 A C 16: 13,950,529 (GRCm39) H952Q possibly damaging Het
Megf6 T C 4: 154,338,738 (GRCm39) probably null Het
Mical3 T C 6: 121,010,748 (GRCm39) I411M probably damaging Het
Myo5a A T 9: 75,124,789 (GRCm39) K1781N probably damaging Het
N4bp2 T C 5: 65,965,473 (GRCm39) V1174A probably benign Het
Ncdn A T 4: 126,644,216 (GRCm39) L202Q probably damaging Het
Ncor1 T A 11: 62,283,464 (GRCm39) M408L possibly damaging Het
Nf1 T C 11: 79,300,235 (GRCm39) L249P probably damaging Het
Nlrp9b T A 7: 19,783,521 (GRCm39) probably null Het
Nxpe3 A T 16: 55,669,996 (GRCm39) Y370N probably damaging Het
P2rx2 T A 5: 110,489,434 (GRCm39) T167S probably benign Het
Pcdhb19 G T 18: 37,632,161 (GRCm39) R652L probably benign Het
Pcdhga12 T C 18: 37,901,334 (GRCm39) L722P probably benign Het
Pde6a A T 18: 61,378,663 (GRCm39) I329F probably damaging Het
Pdpr T A 8: 111,828,583 (GRCm39) S29T probably benign Het
Pfkfb3 T C 2: 11,491,123 (GRCm39) D173G probably benign Het
Plcd4 A G 1: 74,604,961 (GRCm39) probably null Het
Polr1g T A 7: 19,091,684 (GRCm39) Q141L probably damaging Het
Pou2f2 A G 7: 24,796,533 (GRCm39) probably benign Het
Ppp1r14c TGGCGGCGGCGGCGGCGG TGGCGGCGGCGGCGG 10: 3,316,702 (GRCm39) probably benign Het
Ppp1r42 T C 1: 10,073,611 (GRCm39) probably benign Het
Ptpre C T 7: 135,270,861 (GRCm39) H346Y probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rab12 A T 17: 66,805,103 (GRCm39) Y142N probably damaging Het
Rai14 A C 15: 10,572,556 (GRCm39) M857R probably damaging Het
Ranbp2 A G 10: 58,328,243 (GRCm39) K2753R probably damaging Het
Rasa4 A T 5: 136,132,765 (GRCm39) K6* probably null Het
Rasgef1a A G 6: 118,066,100 (GRCm39) M438V probably benign Het
Recql T G 6: 142,304,732 (GRCm39) probably benign Het
Rftn2 A G 1: 55,211,198 (GRCm39) V425A probably benign Het
Ror1 A G 4: 100,267,001 (GRCm39) Y234C probably damaging Het
Sap30l T A 11: 57,696,880 (GRCm39) L70Q probably damaging Het
Scn4a T C 11: 106,210,828 (GRCm39) R1730G probably damaging Het
Serinc5 T G 13: 92,827,488 (GRCm39) I268R probably damaging Het
Sin3b G A 8: 73,471,576 (GRCm39) V432I possibly damaging Het
Slc30a6 T C 17: 74,719,649 (GRCm39) M203T possibly damaging Het
Soat1 T C 1: 156,259,898 (GRCm39) N481S probably damaging Het
Sos2 G A 12: 69,686,928 (GRCm39) T206I probably benign Het
Sp100 G T 1: 85,632,724 (GRCm39) A132S probably benign Het
Sp140l1 C T 1: 85,066,521 (GRCm39) probably benign Het
Spata31d1c T A 13: 65,183,604 (GRCm39) L382* probably null Het
Stard9 T A 2: 120,531,341 (GRCm39) W2533R probably benign Het
Tas2r126 A G 6: 42,412,324 (GRCm39) T286A probably benign Het
Tedc2 T A 17: 24,436,910 (GRCm39) K275M probably damaging Het
Ten1 A T 11: 116,109,057 (GRCm39) K242N probably benign Het
Thoc2l A T 5: 104,665,616 (GRCm39) D46V possibly damaging Het
Tial1 C T 7: 128,056,752 (GRCm39) V1I probably damaging Het
Tle2 G A 10: 81,424,725 (GRCm39) R649H possibly damaging Het
Tmem178 A G 17: 81,252,374 (GRCm39) D86G probably benign Het
Trim29 T A 9: 43,240,872 (GRCm39) D528E possibly damaging Het
Vmn2r61 A T 7: 41,950,132 (GRCm39) T851S probably benign Het
Vmn2r72 T A 7: 85,399,806 (GRCm39) Q414H possibly damaging Het
Yars1 A T 4: 129,083,675 (GRCm39) probably benign Het
Yipf4 A G 17: 74,801,087 (GRCm39) Q135R probably damaging Het
Zfp341 G A 2: 154,487,786 (GRCm39) probably benign Het
Zfp426 T C 9: 20,381,334 (GRCm39) Y536C probably damaging Het
Other mutations in Zp2
AlleleSourceChrCoordTypePredicted EffectPPH 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
R4754:Zp2 UTSW 7 119,737,541 (GRCm39) missense probably benign 0.01
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'- GGGCATTTAGTAGCATACTGTCTC -3'
(R):5'- GCCAGCCTATTTTCAAGGTGC -3'

Sequencing Primer
(F):5'- GCATACTGTCTCTGATGTAATAGC -3'
(R):5'- CAGCCTATTTTCAAGGTGCAGTCTG -3'
Posted On 2016-03-17