Incidental Mutation 'R1126:Zp3r'
ID 96116
Institutional Source Beutler Lab
Gene Symbol Zp3r
Ensembl Gene ENSMUSG00000042554
Gene Name zona pellucida 3 receptor
Synonyms SP56
MMRRC Submission 039199-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R1126 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 130504450-130557358 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 130546079 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 77 (L77P)
Ref Sequence ENSEMBL: ENSMUSP00000118784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039862] [ENSMUST00000128128] [ENSMUST00000142416]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000039862
AA Change: L77P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000045443
Gene: ENSMUSG00000042554
AA Change: L77P

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 probably damaging
Transcript: ENSMUST00000128128
AA Change: L98P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114401
Gene: ENSMUSG00000042554
AA Change: L98P

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 damaging
Transcript: ENSMUST00000142416
AA Change: L77P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118784
Gene: ENSMUSG00000042554
AA Change: L77P

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
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.6%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 45,759,062 (GRCm39) E1226G probably damaging Het
Arhgef40 G T 14: 52,234,583 (GRCm39) S962I probably damaging Het
Atp9b A T 18: 80,822,169 (GRCm39) M477K probably damaging Het
Enpp2 C T 15: 54,770,222 (GRCm39) probably null Het
Ephb3 T A 16: 21,041,226 (GRCm39) M727K possibly damaging Het
Exo5 A T 4: 120,779,322 (GRCm39) I181N probably damaging Het
Fbn1 T C 2: 125,163,112 (GRCm39) probably null Het
Gas6 T C 8: 13,533,700 (GRCm39) N103S probably benign Het
Gm11596 A T 11: 99,683,699 (GRCm39) C140* probably null Het
Il6st T C 13: 112,640,266 (GRCm39) Y681H probably damaging Het
Itih4 T C 14: 30,611,918 (GRCm39) probably null Het
Kdm5b C T 1: 134,541,729 (GRCm39) A768V possibly damaging Het
Krt87 A T 15: 101,385,363 (GRCm39) N336K probably damaging Het
Mfsd6 A G 1: 52,748,670 (GRCm39) V65A probably benign Het
Nipsnap1 A G 11: 4,834,081 (GRCm39) N90S probably benign Het
Nlrp9a C A 7: 26,260,166 (GRCm39) D640E probably benign Het
Or11h4b C T 14: 50,918,720 (GRCm39) A124T possibly damaging Het
Or1l4 A T 2: 37,092,113 (GRCm39) M287L probably benign Het
Or2j3 A G 17: 38,615,579 (GRCm39) C258R probably damaging Het
Or5p53 A C 7: 107,533,578 (GRCm39) M284L possibly damaging Het
Parp9 G A 16: 35,768,110 (GRCm39) V97I possibly damaging Het
Pdzd2 T C 15: 12,458,306 (GRCm39) T12A possibly damaging Het
Penk T C 4: 4,138,119 (GRCm39) T9A probably benign Het
Pilrb2 T C 5: 137,869,222 (GRCm39) D126G probably damaging Het
Pkdrej A T 15: 85,700,515 (GRCm39) V1807E probably damaging Het
Ppp1r9a A G 6: 4,906,795 (GRCm39) E450G possibly damaging Het
Rag1 T C 2: 101,473,034 (GRCm39) R703G probably damaging Het
Rem1 G A 2: 152,476,455 (GRCm39) V238M probably damaging Het
Rmdn3 T C 2: 118,984,476 (GRCm39) D92G probably benign Het
Rp1l1 G A 14: 64,267,918 (GRCm39) G1168D probably damaging Het
Saxo1 T A 4: 86,397,224 (GRCm39) T105S probably benign Het
Slc39a2 G A 14: 52,131,602 (GRCm39) G58R probably damaging Het
Tbx6 C T 7: 126,383,891 (GRCm39) T315I probably damaging Het
Tcf12 A G 9: 71,907,715 (GRCm39) M99T probably benign Het
Tdrd3 A G 14: 87,718,210 (GRCm39) D197G probably damaging Het
Tnc T C 4: 63,936,357 (GRCm39) N193S probably damaging Het
Ttn A G 2: 76,680,347 (GRCm39) probably benign Het
Vmn1r225 A G 17: 20,722,588 (GRCm39) I10V probably benign 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
IGL02290:Zp3r APN 1 130,547,102 (GRCm39) missense possibly damaging 0.89
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
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
Predicted Primers PCR Primer
(F):5'- GCATTGCCAACTGTCCTTTTCCAAA -3'
(R):5'- CGTGGTCCTTGCTCCGTAAACCTTA -3'

Sequencing Primer
(F):5'- gccatctcttcagcccc -3'
(R):5'- GAGATTCTCTCTCTCAAGGTTCAG -3'
Posted On 2014-01-05