Incidental Mutation 'IGL02646:Zp2'
ID301952
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zp2
Ensembl Gene ENSMUSG00000030911
Gene Namezona pellucida glycoprotein 2
SynonymsZp-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #IGL02646
Quality Score
Status
Chromosome7
Chromosomal Location120126772-120145291 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 120135341 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 495 (D495G)
Ref Sequence ENSEMBL: ENSMUSP00000147097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033207] [ENSMUST00000207726] [ENSMUST00000208874]
Predicted Effect possibly damaging
Transcript: ENSMUST00000033207
AA Change: D495G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000033207
Gene: ENSMUSG00000030911
AA Change: D495G

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 possibly damaging
Transcript: ENSMUST00000208874
AA Change: D495G

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik T A 4: 137,454,790 Y85* probably null Het
Abcg2 A G 6: 58,685,696 I508V probably benign Het
Adgrb2 T C 4: 130,019,282 probably null Het
Api5 T A 2: 94,429,839 H24L possibly damaging Het
Apoh T C 11: 108,412,142 V311A probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Brca2 G T 5: 150,560,790 V2994L possibly damaging Het
Brd1 A T 15: 88,700,877 V918D probably damaging Het
Calr3 T G 8: 72,443,460 D43A possibly damaging Het
Cdh16 T C 8: 104,622,105 probably null Het
Cep192 T C 18: 67,862,477 S2033P probably damaging Het
Dnah7a G A 1: 53,525,035 T1955M probably damaging Het
Dock10 T A 1: 80,574,123 Y665F probably damaging Het
Dync1i1 A G 6: 5,767,034 D86G probably benign Het
Eri2 T C 7: 119,786,108 D390G possibly damaging Het
Fank1 C T 7: 133,880,029 probably benign Het
Hoxb7 A T 11: 96,286,744 Y6F possibly damaging Het
Hspg2 A C 4: 137,551,848 S3081R possibly damaging Het
Kcnt1 T A 2: 25,900,880 probably benign Het
Kdelc2 A G 9: 53,384,251 D51G probably benign Het
Med13 A G 11: 86,283,386 I1762T probably benign Het
Mia2 A G 12: 59,108,836 D445G probably damaging Het
Olfr1099 T C 2: 86,959,353 Y35C probably damaging Het
Plcg2 A T 8: 117,603,883 I827F possibly damaging Het
Rnls C A 19: 33,138,284 probably benign Het
Scn1a A T 2: 66,299,618 probably null Het
Sec22b T A 3: 97,921,245 V208E possibly damaging Het
Slc8a3 A T 12: 81,315,094 I317N probably damaging Het
Snx33 A G 9: 56,926,759 Y9H probably damaging Het
Stard9 C A 2: 120,698,992 T1910N probably damaging Het
Tas2r122 T A 6: 132,711,790 I47F probably damaging Het
Tedc1 T G 12: 113,157,301 L118V possibly damaging Het
Tln2 A T 9: 67,255,996 S1090T probably benign Het
Tpcn2 T C 7: 145,258,574 D511G probably benign Het
Usp21 T C 1: 171,283,095 probably benign Het
Vmn2r17 T A 5: 109,453,080 L748Q probably damaging Het
Other mutations in Zp2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
X0017:Zp2 UTSW 7 120133385 missense probably damaging 1.00
X0023:Zp2 UTSW 7 120133367 missense probably damaging 1.00
Posted On2015-04-16