Incidental Mutation 'R5355:Zp3r'
ID 424016
Institutional Source Beutler Lab
Gene Symbol Zp3r
Ensembl Gene ENSMUSG00000042554
Gene Name zona pellucida 3 receptor
Synonyms SP56
MMRRC Submission 042934-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R5355 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 130504450-130557358 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 130524518 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 175 (F175S)
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 benign
Transcript: ENSMUST00000039862
AA Change: F240S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000045443
Gene: ENSMUSG00000042554
AA Change: F240S

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
AA Change: F196S

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000114401
Gene: ENSMUSG00000042554
AA Change: F196S

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
AA Change: F175S

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000118784
Gene: ENSMUSG00000042554
AA Change: F175S

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency 94% (50/53)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T C 5: 8,776,873 (GRCm39) L857P probably damaging Het
Adam12 T C 7: 133,489,671 (GRCm39) *582W probably null Het
Adra1d A G 2: 131,403,007 (GRCm39) V361A probably damaging Het
Ank2 A G 3: 126,737,698 (GRCm39) probably benign Het
Atxn10 T A 15: 85,346,515 (GRCm39) N424K probably damaging Het
C8b A G 4: 104,637,860 (GRCm39) T111A probably benign Het
Ccdc168 A C 1: 44,097,139 (GRCm39) C1320G possibly damaging Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Cdr2l T C 11: 115,284,396 (GRCm39) V244A possibly damaging Het
Col11a2 A G 17: 34,270,775 (GRCm39) M468V probably benign Het
Col4a2 G A 8: 11,495,984 (GRCm39) R1535H probably damaging Het
Cryab A T 9: 50,664,751 (GRCm39) S59C probably damaging Het
Cuzd1 G A 7: 130,917,853 (GRCm39) T249I probably damaging Het
Disp2 G A 2: 118,617,392 (GRCm39) V129M probably benign Het
Dlg2 G T 7: 91,099,011 (GRCm39) R31L probably benign Het
Dthd1 A C 5: 62,996,730 (GRCm39) L488F probably damaging Het
Dusp29 G A 14: 21,727,091 (GRCm39) R186W probably benign Het
Fat2 T G 11: 55,172,992 (GRCm39) I2574L probably damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Fryl T C 5: 73,231,247 (GRCm39) D1610G probably damaging Het
Gm10330 T A 12: 23,830,131 (GRCm39) N17Y probably damaging Het
Gm4787 T A 12: 81,424,239 (GRCm39) R640* probably null Het
H2bc13 A T 13: 21,900,030 (GRCm39) I95N probably damaging Het
Ift88 T A 14: 57,675,699 (GRCm39) S71T probably benign Het
Isoc2b A G 7: 4,852,357 (GRCm39) probably benign Het
Itgb2 G T 10: 77,393,886 (GRCm39) R442L probably benign Het
Lama5 A T 2: 179,823,444 (GRCm39) N2658K possibly damaging Het
Lemd3 A T 10: 120,769,538 (GRCm39) I598K probably damaging Het
Lrp2 A T 2: 69,285,182 (GRCm39) C3825* probably null Het
Mep1a T C 17: 43,788,037 (GRCm39) D673G probably damaging Het
Met A G 6: 17,491,361 (GRCm39) Y41C probably damaging Het
Mfn2 A G 4: 147,979,035 (GRCm39) V99A probably damaging Het
Mmadhc A G 2: 50,181,436 (GRCm39) I78T probably benign Het
Mmp9 C A 2: 164,792,912 (GRCm39) P389T possibly damaging Het
Mvk T G 5: 114,590,499 (GRCm39) S7A probably damaging Het
Nlrp1a T A 11: 71,015,077 (GRCm39) T58S probably benign Het
Nlrp1c-ps C A 11: 71,148,839 (GRCm39) noncoding transcript Het
Nr1h3 A G 2: 91,022,253 (GRCm39) I125T possibly damaging Het
Or2a55-ps1 C T 6: 43,071,598 (GRCm39) noncoding transcript Het
Or8k39 A T 2: 86,563,680 (GRCm39) I92K probably damaging Het
Parn A G 16: 13,485,886 (GRCm39) I3T possibly damaging Het
Parp8 A G 13: 116,998,740 (GRCm39) probably null Het
Parva T C 7: 112,143,475 (GRCm39) probably null Het
Pwp2 A C 10: 78,011,378 (GRCm39) I672M possibly damaging Het
Sfswap C T 5: 129,616,810 (GRCm39) T418I probably benign Het
Slc6a3 A G 13: 73,709,078 (GRCm39) Y334C probably damaging Het
Slc7a13 C A 4: 19,839,267 (GRCm39) T290K probably benign Het
Spry2 A G 14: 106,130,712 (GRCm39) L158P probably damaging Het
Usp25 A G 16: 76,847,342 (GRCm39) E150G probably damaging Het
Zfp747 A G 7: 126,973,769 (GRCm39) F134L possibly damaging Het
Zscan22 C A 7: 12,640,435 (GRCm39) N67K 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
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
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'- CGCCCACATTCTGGATAACC -3'
(R):5'- AATGTTTTCCTTGCACATACCTGAC -3'

Sequencing Primer
(F):5'- CCTTAGATGATAAGTACTGCAGCTCC -3'
(R):5'- ACCACTTCTACTATGGAGCATGG -3'
Posted On 2016-08-04