Incidental Mutation 'R1235:Zp2'
ID 152405
Institutional Source Beutler Lab
Gene Symbol Zp2
Ensembl Gene ENSMUSG00000030911
Gene Name zona pellucida glycoprotein 2
Synonyms Zp-2
MMRRC Submission 039303-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R1235 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 119725995-119744514 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 119737566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 240 (F240I)
Ref Sequence ENSEMBL: ENSMUSP00000147097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033207] [ENSMUST00000207726] [ENSMUST00000208874]
AlphaFold P20239
Predicted Effect possibly damaging
Transcript: ENSMUST00000033207
AA Change: F240I

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000033207
Gene: ENSMUSG00000030911
AA Change: F240I

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 possibly damaging
Transcript: ENSMUST00000207726
AA Change: F240I

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208122
Predicted Effect possibly damaging
Transcript: ENSMUST00000208874
AA Change: F240I

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.5%
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arsg T C 11: 109,424,933 (GRCm39) probably null Het
Col6a1 C A 10: 76,548,158 (GRCm39) A633S unknown Het
Dnajb3 C T 1: 88,133,201 (GRCm39) R67H probably benign Het
Fam53c T A 18: 34,901,311 (GRCm39) L76Q probably damaging Het
Gys2 A T 6: 142,376,019 (GRCm39) Y548N probably damaging Het
Kcnh3 T A 15: 99,139,984 (GRCm39) probably null Het
Lrp2 C T 2: 69,354,380 (GRCm39) V483I probably damaging Het
Myom3 A T 4: 135,516,854 (GRCm39) Y808F probably benign Het
Nmur1 C T 1: 86,314,415 (GRCm39) G307S probably damaging Het
Or8w1 T G 2: 87,465,159 (GRCm39) probably null Het
Pcdhb13 T C 18: 37,578,012 (GRCm39) *797Q probably null Het
Plcb4 G A 2: 135,814,868 (GRCm39) G719R probably damaging Het
Pld1 A T 3: 28,082,883 (GRCm39) T143S probably benign Het
Rem1 G A 2: 152,476,455 (GRCm39) V238M probably damaging Het
Sema5a A T 15: 32,609,372 (GRCm39) Y426F probably benign Het
Trpc7 G T 13: 57,035,352 (GRCm39) H194N probably damaging Het
Vmn2r106 A T 17: 20,499,741 (GRCm39) F165I probably benign Het
Zdbf2 A G 1: 63,348,232 (GRCm39) T2204A possibly 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
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
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'- GCTCCATTGTCCAAAGTCCACAGAC -3'
(R):5'- ACAGGTGCTGGAAAGTGCTCATAC -3'

Sequencing Primer
(F):5'- GTCATGTGTGTAGCATTACAAGCC -3'
(R):5'- CCCTAGAAATGGTCGCTATGAGTC -3'
Posted On 2014-01-29