Incidental Mutation 'IGL02290:Zp3r'
ID 290054
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zp3r
Ensembl Gene ENSMUSG00000042554
Gene Name zona pellucida 3 receptor
Synonyms SP56
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # IGL02290
Quality Score
Status
Chromosome 1
Chromosomal Location 130504450-130557358 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 130547102 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 25 (V25I)
Ref Sequence ENSEMBL: ENSMUSP00000118784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039862] [ENSMUST00000128128] [ENSMUST00000142416]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000039862
AA Change: V25I

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000045443
Gene: ENSMUSG00000042554
AA Change: V25I

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 possibly damaging
Transcript: ENSMUST00000128128
AA Change: V46I

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114401
Gene: ENSMUSG00000042554
AA Change: V46I

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 possibly damaging
Transcript: ENSMUST00000142416
AA Change: V25I

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118784
Gene: ENSMUSG00000042554
AA Change: V25I

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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik G A 13: 61,001,344 (GRCm39) P128S probably damaging Het
Abca9 A G 11: 110,026,177 (GRCm39) V961A probably damaging Het
Atp2a1 A G 7: 126,051,821 (GRCm39) probably benign Het
Col25a1 T A 3: 130,313,460 (GRCm39) probably benign Het
Col27a1 A G 4: 63,144,163 (GRCm39) D617G probably damaging Het
Cpz T C 5: 35,668,486 (GRCm39) T375A probably benign Het
Faxc T A 4: 21,993,390 (GRCm39) S345T possibly damaging Het
Ganc C T 2: 120,278,904 (GRCm39) T707I possibly damaging Het
Hars2 T C 18: 36,918,679 (GRCm39) V55A possibly damaging Het
Lama4 A T 10: 38,893,360 (GRCm39) I156F probably benign Het
Mtrf1 G T 14: 79,639,251 (GRCm39) E128* probably null Het
Ndc1 T C 4: 107,252,192 (GRCm39) probably benign Het
Ntrk1 A C 3: 87,689,078 (GRCm39) N537K probably benign Het
Or1e17 A G 11: 73,831,695 (GRCm39) I208V probably benign Het
Or4p23 T C 2: 88,576,729 (GRCm39) T168A probably benign Het
Scn11a A G 9: 119,603,508 (GRCm39) I1053T probably damaging Het
Slc27a4 T A 2: 29,705,741 (GRCm39) L643Q probably damaging Het
Tsnaxip1 C A 8: 106,560,119 (GRCm39) P24T probably benign Het
Vmn1r78 A G 7: 11,887,082 (GRCm39) E231G probably damaging Het
Vmn2r124 T G 17: 18,293,597 (GRCm39) H561Q probably benign Het
Zbtb12 G A 17: 35,114,448 (GRCm39) A78T probably damaging Het
Other mutations in Zp3r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01352:Zp3r APN 1 130,547,093 (GRCm39) missense possibly damaging 0.88
IGL01783:Zp3r APN 1 130,526,603 (GRCm39) missense possibly damaging 0.72
IGL01820:Zp3r APN 1 130,526,657 (GRCm39) missense probably benign 0.01
IGL01959:Zp3r APN 1 130,519,188 (GRCm39) nonsense probably null
IGL01978:Zp3r APN 1 130,526,678 (GRCm39) missense probably damaging 1.00
IGL02232:Zp3r APN 1 130,524,404 (GRCm39) missense probably damaging 1.00
IGL02878:Zp3r APN 1 130,510,588 (GRCm39) missense probably benign 0.02
IGL02960:Zp3r APN 1 130,511,175 (GRCm39) missense possibly damaging 0.67
BB006:Zp3r UTSW 1 130,519,217 (GRCm39) missense probably benign 0.31
BB016:Zp3r UTSW 1 130,519,217 (GRCm39) missense probably benign 0.31
PIT4403001:Zp3r UTSW 1 130,510,609 (GRCm39) missense possibly damaging 0.93
R0433:Zp3r UTSW 1 130,504,870 (GRCm39) splice site probably benign
R0491:Zp3r UTSW 1 130,546,071 (GRCm39) missense probably damaging 1.00
R0781:Zp3r UTSW 1 130,505,621 (GRCm39) critical splice donor site probably null
R1110:Zp3r UTSW 1 130,505,621 (GRCm39) critical splice donor site probably null
R1126:Zp3r UTSW 1 130,546,079 (GRCm39) missense probably damaging 1.00
R1295:Zp3r UTSW 1 130,519,181 (GRCm39) missense probably damaging 1.00
R1680:Zp3r UTSW 1 130,510,617 (GRCm39) missense probably benign 0.15
R1728:Zp3r UTSW 1 130,547,151 (GRCm39) missense possibly damaging 0.68
R1728:Zp3r UTSW 1 130,524,551 (GRCm39) missense probably benign 0.00
R1729:Zp3r UTSW 1 130,547,151 (GRCm39) missense possibly damaging 0.68
R1729:Zp3r UTSW 1 130,524,551 (GRCm39) missense probably benign 0.00
R1730:Zp3r UTSW 1 130,547,151 (GRCm39) missense possibly damaging 0.68
R1730:Zp3r UTSW 1 130,524,551 (GRCm39) missense probably benign 0.00
R1739:Zp3r UTSW 1 130,547,151 (GRCm39) missense possibly damaging 0.68
R1739:Zp3r UTSW 1 130,524,551 (GRCm39) missense probably benign 0.00
R1762:Zp3r UTSW 1 130,547,151 (GRCm39) missense possibly damaging 0.68
R1762:Zp3r UTSW 1 130,524,551 (GRCm39) missense probably benign 0.00
R1783:Zp3r UTSW 1 130,547,151 (GRCm39) missense possibly damaging 0.68
R1783:Zp3r UTSW 1 130,524,551 (GRCm39) missense probably benign 0.00
R1784:Zp3r UTSW 1 130,547,151 (GRCm39) missense possibly damaging 0.68
R1784:Zp3r UTSW 1 130,524,551 (GRCm39) missense probably benign 0.00
R1785:Zp3r UTSW 1 130,524,551 (GRCm39) missense probably benign 0.00
R1785:Zp3r UTSW 1 130,547,151 (GRCm39) missense possibly damaging 0.68
R3942:Zp3r UTSW 1 130,504,791 (GRCm39) missense possibly damaging 0.94
R4429:Zp3r UTSW 1 130,519,128 (GRCm39) missense possibly damaging 0.95
R4571:Zp3r UTSW 1 130,505,757 (GRCm39) missense probably damaging 1.00
R4626:Zp3r UTSW 1 130,542,912 (GRCm39) missense probably damaging 1.00
R4647:Zp3r UTSW 1 130,505,697 (GRCm39) missense probably damaging 1.00
R4790:Zp3r UTSW 1 130,510,629 (GRCm39) missense probably damaging 1.00
R4815:Zp3r UTSW 1 130,526,649 (GRCm39) missense probably damaging 1.00
R5355:Zp3r UTSW 1 130,524,518 (GRCm39) missense probably benign 0.09
R5554:Zp3r UTSW 1 130,511,208 (GRCm39) missense probably benign 0.42
R5629:Zp3r UTSW 1 130,510,616 (GRCm39) missense probably damaging 0.99
R6154:Zp3r UTSW 1 130,526,642 (GRCm39) missense probably damaging 1.00
R6173:Zp3r UTSW 1 130,519,305 (GRCm39) splice site probably null
R6949:Zp3r UTSW 1 130,505,632 (GRCm39) missense probably benign 0.00
R7346:Zp3r UTSW 1 130,511,217 (GRCm39) missense probably benign 0.02
R7399:Zp3r UTSW 1 130,504,790 (GRCm39) missense probably damaging 0.98
R7929:Zp3r UTSW 1 130,519,217 (GRCm39) missense probably benign 0.31
R7944:Zp3r UTSW 1 130,524,560 (GRCm39) missense probably damaging 1.00
R7945:Zp3r UTSW 1 130,524,560 (GRCm39) missense probably damaging 1.00
R8367:Zp3r UTSW 1 130,526,610 (GRCm39) missense probably damaging 1.00
R8742:Zp3r UTSW 1 130,511,230 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16