Incidental Mutation 'IGL01978:Zp3r'
ID181778
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: 0.090) question?
Stock #IGL01978
Quality Score
Status
Chromosome1
Chromosomal Location130576713-130629621 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 130598941 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 175 (D175G)
Ref Sequence ENSEMBL: ENSMUSP00000045443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039862] [ENSMUST00000128128] [ENSMUST00000142416]
Predicted Effect probably damaging
Transcript: ENSMUST00000039862
AA Change: D175G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045443
Gene: ENSMUSG00000042554
AA Change: D175G

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A T 15: 8,219,382 N1805I probably damaging Het
9830107B12Rik T A 17: 48,145,993 T6S probably damaging Het
Acot5 T C 12: 84,075,398 V252A possibly damaging Het
Bmper A T 9: 23,381,441 N349Y probably damaging Het
Brap A G 5: 121,678,847 probably benign Het
Col9a2 G A 4: 121,044,666 G139E unknown Het
Cyp2j8 A C 4: 96,504,009 probably null Het
Dcbld2 A G 16: 58,464,319 D612G probably benign Het
Dsc3 C T 18: 19,974,196 R456Q possibly damaging Het
Fat2 T C 11: 55,270,146 T3253A probably benign Het
Hoxc12 T A 15: 102,936,864 H4Q probably damaging Het
Il6st A G 13: 112,497,357 E445G possibly damaging Het
Ipo8 T C 6: 148,777,289 E937G probably benign Het
Kif5a A C 10: 127,245,739 D185E probably benign Het
Klhl38 T C 15: 58,315,089 D495G probably damaging Het
Klra5 A G 6: 129,911,430 V11A probably benign Het
Lrch1 G A 14: 74,786,342 T581M probably damaging Het
Mecom A G 3: 29,963,166 I450T probably damaging Het
Mrgprb2 C A 7: 48,552,564 V138L probably damaging Het
Muc15 G A 2: 110,731,596 A126T probably benign Het
Mybpc1 A T 10: 88,531,770 I522K probably damaging Het
Nectin1 G A 9: 43,792,147 R234H probably damaging Het
Olfr1450 T C 19: 12,954,042 F151S probably benign Het
Olfr190 A T 16: 59,074,267 I271K probably benign Het
Pdia6 T A 12: 17,274,422 H91Q possibly damaging Het
Pfkfb4 A T 9: 109,028,942 H445L probably damaging Het
Pkd1l1 T C 11: 8,961,336 T314A unknown Het
Rb1cc1 A G 1: 6,238,368 D159G probably damaging Het
Rhoh T A 5: 65,892,688 S100R probably benign Het
Rsbn1 T A 3: 103,961,500 D618E probably damaging Het
Slc25a47 T C 12: 108,851,190 V4A probably damaging Het
Svs3b T A 2: 164,256,621 M1L probably benign Het
Thsd7a T C 6: 12,331,006 N1379S probably benign Het
Tmed3 T C 9: 89,704,753 D58G probably benign Het
Trh G A 6: 92,242,615 A240V probably benign Het
Ubox5 A T 2: 130,600,452 V105E probably benign Het
Vmn2r67 A G 7: 85,151,441 probably null Het
Vps13c A G 9: 67,930,643 H1825R probably benign Het
Wasf1 C A 10: 40,936,201 P329T unknown Het
Wee2 T C 6: 40,455,153 F219L probably damaging 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
IGL01820:Zp3r APN 1 130598920 missense probably benign 0.01
IGL01959:Zp3r APN 1 130591451 nonsense probably null
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
BB006:Zp3r UTSW 1 130591480 missense probably benign 0.31
BB016:Zp3r UTSW 1 130591480 missense probably benign 0.31
PIT4403001:Zp3r UTSW 1 130582872 missense possibly damaging 0.93
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
R7346:Zp3r UTSW 1 130583480 missense probably benign 0.02
R7399:Zp3r UTSW 1 130577053 missense probably damaging 0.98
R7929:Zp3r UTSW 1 130591480 missense probably benign 0.31
R7944:Zp3r UTSW 1 130596823 missense probably damaging 1.00
R7945:Zp3r UTSW 1 130596823 missense probably damaging 1.00
R8367:Zp3r UTSW 1 130598873 missense probably damaging 1.00
R8742:Zp3r UTSW 1 130583493 missense probably damaging 1.00
Posted On2014-05-07