Incidental Mutation 'IGL01820:Zp3r'
ID154525
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zp3r
Ensembl Gene ENSMUSG00000042554
Gene Namezona pellucida 3 receptor
SynonymsSP56
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.169) question?
Stock #IGL01820
Quality Score
Status
Chromosome1
Chromosomal Location130576713-130629621 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 130598920 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 182 (V182A)
Ref Sequence ENSEMBL: ENSMUSP00000045443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039862] [ENSMUST00000128128] [ENSMUST00000142416]
Predicted Effect probably benign
Transcript: ENSMUST00000039862
AA Change: V182A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000045443
Gene: ENSMUSG00000042554
AA Change: V182A

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
CCP 34 91 2.52e-7 SMART
CCP 96 153 3.17e-13 SMART
CCP 158 218 8.23e-12 SMART
CCP 223 278 1.77e-11 SMART
CCP 283 345 5.32e-6 SMART
CCP 350 411 3.67e-9 SMART
CCP 456 509 6.95e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082461
Predicted Effect probably benign
Transcript: ENSMUST00000128128
SMART Domains Protein: ENSMUSP00000114401
Gene: ENSMUSG00000042554

DomainStartEndE-ValueType
CCP 55 112 2.52e-7 SMART
CCP 117 174 3.17e-13 SMART
CCP 179 234 1.77e-11 SMART
CCP 239 301 5.32e-6 SMART
CCP 306 367 3.67e-9 SMART
CCP 412 465 6.95e-10 SMART
PDB:4B0F|G 468 513 8e-8 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000142416
SMART Domains Protein: ENSMUSP00000118784
Gene: ENSMUSG00000042554

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
CCP 34 91 2.52e-7 SMART
CCP 96 153 3.17e-13 SMART
CCP 158 213 1.77e-11 SMART
CCP 218 280 5.32e-6 SMART
CCP 285 346 3.67e-9 SMART
CCP 391 444 6.95e-10 SMART
PDB:4B0F|G 447 492 8e-8 PDB
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal fertility and sperm morphology and physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,715,896 probably benign Het
Adcy2 T C 13: 68,738,545 probably null Het
Akna G T 4: 63,386,258 T553N probably benign Het
Boc A G 16: 44,491,872 I609T possibly damaging Het
Btbd9 C T 17: 30,527,409 V148I possibly damaging Het
Cacna1d A T 14: 30,042,866 I2049N possibly damaging Het
Cdhr1 A T 14: 37,085,579 M368K probably benign Het
Cftr A G 6: 18,226,139 Y362C probably damaging Het
Cnppd1 G T 1: 75,139,592 probably null Het
Col3a1 T C 1: 45,321,608 I66T unknown Het
Col5a2 C A 1: 45,442,825 M46I unknown Het
Csmd3 G T 15: 47,607,142 C3379* probably null Het
Ctla2b T A 13: 60,896,689 *28C probably null Het
Ddhd2 C T 8: 25,749,754 E33K possibly damaging Het
Dock3 T C 9: 106,895,893 H387R probably damaging Het
Dyrk1b T A 7: 28,181,600 probably benign Het
Fam131c T C 4: 141,380,337 C53R probably damaging Het
Fat1 T A 8: 45,010,502 F1360L probably damaging Het
Gm10320 G T 13: 98,489,537 S113* probably null Het
Ifih1 T C 2: 62,617,313 D349G probably damaging Het
Il12a T C 3: 68,692,162 probably benign Het
Ivl A T 3: 92,571,633 M375K possibly damaging Het
Krt82 C A 15: 101,543,452 probably benign Het
Mc4r C T 18: 66,859,155 V296I probably benign Het
Met T A 6: 17,534,231 I691N possibly damaging Het
Mycbp2 A T 14: 103,188,501 I2396K probably damaging Het
Napg C A 18: 62,986,445 Q135K probably benign Het
Nf2 A T 11: 4,789,655 probably null Het
Nrxn1 G T 17: 90,643,103 H549Q probably damaging Het
P4ha1 T A 10: 59,361,914 I321K probably damaging Het
Prl5a1 T C 13: 28,148,700 S94P probably benign Het
Prnp T C 2: 131,937,070 V214A probably benign Het
Ptprc A T 1: 138,066,198 F1165I probably damaging Het
Rdh10 T C 1: 16,128,259 V207A possibly damaging Het
Rel A T 11: 23,753,218 N131K probably benign Het
Rgs14 A T 13: 55,383,525 D448V probably benign Het
Spag5 T G 11: 78,304,259 S131A probably benign Het
Styxl1 C T 5: 135,765,750 D88N probably damaging Het
Tlr3 C T 8: 45,398,339 R507H probably benign Het
Ttn C T 2: 76,786,326 E16528K possibly damaging Het
Txlnb T C 10: 17,806,858 probably null Het
Unc13a A G 8: 71,654,947 V567A probably damaging Het
Vmn1r8 T C 6: 57,036,668 S235P possibly damaging Het
Vmn2r51 T A 7: 10,105,482 N60Y probably damaging Het
Wbp1l T A 19: 46,652,483 L68Q probably damaging Het
Wdfy3 A T 5: 101,924,081 V981E probably benign Het
Zdhhc13 T C 7: 48,808,865 S316P probably damaging Het
Zfp516 C T 18: 82,987,361 R797C probably benign Het
Other mutations in Zp3r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01352:Zp3r APN 1 130619356 missense possibly damaging 0.88
IGL01783:Zp3r APN 1 130598866 missense possibly damaging 0.72
IGL01959:Zp3r APN 1 130591451 nonsense probably null
IGL01978:Zp3r APN 1 130598941 missense probably damaging 1.00
IGL02232:Zp3r APN 1 130596667 missense probably damaging 1.00
IGL02290:Zp3r APN 1 130619365 missense possibly damaging 0.89
IGL02878:Zp3r APN 1 130582851 missense probably benign 0.02
IGL02960:Zp3r APN 1 130583438 missense possibly damaging 0.67
R0433:Zp3r UTSW 1 130577133 splice site probably benign
R0491:Zp3r UTSW 1 130618334 missense probably damaging 1.00
R0781:Zp3r UTSW 1 130577884 critical splice donor site probably null
R1110:Zp3r UTSW 1 130577884 critical splice donor site probably null
R1126:Zp3r UTSW 1 130618342 missense probably damaging 1.00
R1295:Zp3r UTSW 1 130591444 missense probably damaging 1.00
R1680:Zp3r UTSW 1 130582880 missense probably benign 0.15
R1728:Zp3r UTSW 1 130596814 missense probably benign 0.00
R1728:Zp3r UTSW 1 130619414 missense possibly damaging 0.68
R1729:Zp3r UTSW 1 130596814 missense probably benign 0.00
R1729:Zp3r UTSW 1 130619414 missense possibly damaging 0.68
R1730:Zp3r UTSW 1 130596814 missense probably benign 0.00
R1730:Zp3r UTSW 1 130619414 missense possibly damaging 0.68
R1739:Zp3r UTSW 1 130596814 missense probably benign 0.00
R1739:Zp3r UTSW 1 130619414 missense possibly damaging 0.68
R1762:Zp3r UTSW 1 130596814 missense probably benign 0.00
R1762:Zp3r UTSW 1 130619414 missense possibly damaging 0.68
R1783:Zp3r UTSW 1 130596814 missense probably benign 0.00
R1783:Zp3r UTSW 1 130619414 missense possibly damaging 0.68
R1784:Zp3r UTSW 1 130596814 missense probably benign 0.00
R1784:Zp3r UTSW 1 130619414 missense possibly damaging 0.68
R1785:Zp3r UTSW 1 130596814 missense probably benign 0.00
R1785:Zp3r UTSW 1 130619414 missense possibly damaging 0.68
R3942:Zp3r UTSW 1 130577054 missense possibly damaging 0.94
R4429:Zp3r UTSW 1 130591391 missense possibly damaging 0.95
R4571:Zp3r UTSW 1 130578020 missense probably damaging 1.00
R4626:Zp3r UTSW 1 130615175 missense probably damaging 1.00
R4647:Zp3r UTSW 1 130577960 missense probably damaging 1.00
R4790:Zp3r UTSW 1 130582892 missense probably damaging 1.00
R4815:Zp3r UTSW 1 130598912 missense probably damaging 1.00
R5355:Zp3r UTSW 1 130596781 missense probably benign 0.09
R5554:Zp3r UTSW 1 130583471 missense probably benign 0.42
R5629:Zp3r UTSW 1 130582879 missense probably damaging 0.99
R6154:Zp3r UTSW 1 130598905 missense probably damaging 1.00
R6173:Zp3r UTSW 1 130591568 splice site probably null
R6949:Zp3r UTSW 1 130577895 missense probably benign 0.00
Posted On2014-02-04