Incidental Mutation 'R9234:Zpbp2'
ID 700996
Institutional Source Beutler Lab
Gene Symbol Zpbp2
Ensembl Gene ENSMUSG00000017195
Gene Name zona pellucida binding protein 2
Synonyms 1700017D11Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # R9234 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 98441923-98449491 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98443398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 77 (N77I)
Ref Sequence ENSEMBL: ENSMUSP00000017339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017339] [ENSMUST00000081033] [ENSMUST00000107509] [ENSMUST00000107511] [ENSMUST00000107513]
AlphaFold Q6X786
Predicted Effect probably damaging
Transcript: ENSMUST00000017339
AA Change: N77I

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000017339
Gene: ENSMUSG00000017195
AA Change: N77I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Sp38 55 326 9.6e-142 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000081033
AA Change: N77I

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000079822
Gene: ENSMUSG00000017195
AA Change: N77I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Sp38 55 135 2e-35 PFAM
Pfam:Sp38 134 253 1.4e-60 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107509
AA Change: N23I

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103133
Gene: ENSMUSG00000017195
AA Change: N23I

DomainStartEndE-ValueType
Pfam:Sp38 1 272 1.1e-141 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107511
AA Change: N23I

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103135
Gene: ENSMUSG00000017195
AA Change: N23I

DomainStartEndE-ValueType
Pfam:Sp38 1 272 1.1e-141 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107513
AA Change: N55I

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103137
Gene: ENSMUSG00000017195
AA Change: N55I

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Sp38 33 304 4.5e-142 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Male mice homozygous for a null mutation display reduced fecundity, mild teratozoospermia, and delayed fertilization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430550D23Rik A G 2: 155,845,798 (GRCm39) Y20H probably benign Het
Arid5b A G 10: 67,964,628 (GRCm39) F348L possibly damaging Het
Bms1 C A 6: 118,375,044 (GRCm39) A777S probably damaging Het
C2cd3 A G 7: 100,049,012 (GRCm39) Y61C Het
Caprin2 A T 6: 148,744,337 (GRCm39) Y1029* probably null Het
Casp1 A T 9: 5,303,128 (GRCm39) D194V probably benign Het
Crkl A G 16: 17,286,822 (GRCm39) E126G probably damaging Het
Crp A T 1: 172,526,413 (GRCm39) D166V probably damaging Het
Dnah10 A C 5: 124,818,989 (GRCm39) D425A possibly damaging Het
Dnah11 A T 12: 117,951,095 (GRCm39) L3071Q probably damaging Het
Dnah9 T A 11: 65,924,751 (GRCm39) I2168F possibly damaging Het
Elp3 T A 14: 65,788,920 (GRCm39) I388F probably damaging Het
Espn C A 4: 152,217,380 (GRCm39) probably null Het
Fbrsl1 G T 5: 110,511,250 (GRCm39) F504L probably benign Het
Fzd9 A C 5: 135,279,540 (GRCm39) M115R probably damaging Het
Git2 A T 5: 114,899,682 (GRCm39) Y224N possibly damaging Het
Gm9195 A T 14: 72,695,786 (GRCm39) Y1415* probably null Het
Gnpat T A 8: 125,610,179 (GRCm39) L454Q probably damaging Het
Grm5 C T 7: 87,723,440 (GRCm39) P577S probably damaging Het
Hfm1 T C 5: 107,041,334 (GRCm39) N683S probably benign Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Leng8 C A 7: 4,145,247 (GRCm39) P216T probably damaging Het
Letm2 C A 8: 26,084,102 (GRCm39) R43L probably benign Het
Lims2 A T 18: 32,090,943 (GRCm39) Y309F probably benign Het
Llgl1 T C 11: 60,600,956 (GRCm39) probably null Het
Ltn1 A T 16: 87,194,089 (GRCm39) D1417E probably damaging Het
Map4k4 T A 1: 40,029,261 (GRCm39) N345K unknown Het
Mapre2 T C 18: 23,937,236 (GRCm39) I26T probably benign Het
Nfe2 A G 15: 103,159,636 (GRCm39) probably benign Het
Nlgn3 T C X: 100,352,390 (GRCm39) V179A probably damaging Het
Ntrk1 A G 3: 87,695,622 (GRCm39) probably null Het
Or51b6b T A 7: 103,309,950 (GRCm39) Y169F possibly damaging Het
Or52e18 A G 7: 104,609,651 (GRCm39) F96S probably damaging Het
Or5h19 T C 16: 58,856,789 (GRCm39) N104D probably benign Het
Otud7b G T 3: 96,047,771 (GRCm39) Q43H probably damaging Het
Pcdhb5 T C 18: 37,453,695 (GRCm39) V25A probably benign Het
Pcolce2 A G 9: 95,560,439 (GRCm39) T163A probably benign Het
Pdgfra T A 5: 75,324,262 (GRCm39) V39E possibly damaging Het
Pdgfrb T A 18: 61,194,300 (GRCm39) W26R probably null Het
Pigp T A 16: 94,165,522 (GRCm39) *206Y probably null Het
Pip5kl1 G T 2: 32,468,211 (GRCm39) G126C probably benign Het
Plekhg2 G T 7: 28,064,215 (GRCm39) T442K probably benign Het
Prmt5 A T 14: 54,748,674 (GRCm39) S375T possibly damaging Het
Rnf213 T A 11: 119,340,943 (GRCm39) M3529K Het
Ror2 C A 13: 53,265,374 (GRCm39) D573Y probably damaging Het
Shank1 A G 7: 43,962,579 (GRCm39) T98A unknown Het
Shcbp1 A T 8: 4,798,800 (GRCm39) I373K possibly damaging Het
Slc25a42 A G 8: 70,642,736 (GRCm39) S64P probably damaging Het
Smco3 T A 6: 136,808,410 (GRCm39) I155F probably damaging Het
Snx4 C A 16: 33,087,161 (GRCm39) S102* probably null Het
Snx4 T A 16: 33,108,069 (GRCm39) S288T probably benign Het
Socs4 A G 14: 47,527,716 (GRCm39) N217S probably benign Het
Tatdn2 G A 6: 113,679,683 (GRCm39) probably null Het
Tmprss2 A G 16: 97,379,821 (GRCm39) Y160H probably damaging Het
Trim37 T C 11: 87,036,393 (GRCm39) I158T possibly damaging Het
Trip11 C T 12: 101,811,990 (GRCm39) probably null Het
Ubr3 G A 2: 69,727,990 (GRCm39) A118T probably benign Het
Ubxn7 T C 16: 32,178,895 (GRCm39) probably null Het
Unc5cl C T 17: 48,770,658 (GRCm39) H369Y probably damaging Het
Unc5d A T 8: 29,250,877 (GRCm39) N263K probably damaging Het
Vmn2r59 A G 7: 41,661,907 (GRCm39) I636T possibly damaging Het
Vps13d G T 4: 144,875,792 (GRCm39) Q1578K Het
Wnk2 T C 13: 49,224,274 (GRCm39) D1171G probably damaging Het
Zfpm2 A G 15: 40,966,470 (GRCm39) Y985C probably damaging Het
Other mutations in Zpbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00819:Zpbp2 APN 11 98,448,418 (GRCm39) missense probably damaging 1.00
IGL02127:Zpbp2 APN 11 98,446,367 (GRCm39) missense probably damaging 0.97
IGL02612:Zpbp2 APN 11 98,446,343 (GRCm39) missense probably benign 0.01
R0709:Zpbp2 UTSW 11 98,444,763 (GRCm39) missense probably damaging 1.00
R0959:Zpbp2 UTSW 11 98,448,451 (GRCm39) missense probably benign 0.16
R1445:Zpbp2 UTSW 11 98,444,670 (GRCm39) missense probably damaging 1.00
R2032:Zpbp2 UTSW 11 98,445,534 (GRCm39) missense probably damaging 1.00
R3621:Zpbp2 UTSW 11 98,443,382 (GRCm39) missense probably benign 0.08
R4328:Zpbp2 UTSW 11 98,448,432 (GRCm39) missense probably benign 0.06
R4685:Zpbp2 UTSW 11 98,442,117 (GRCm39) intron probably benign
R4957:Zpbp2 UTSW 11 98,442,150 (GRCm39) critical splice donor site probably null
R5395:Zpbp2 UTSW 11 98,449,039 (GRCm39) missense probably damaging 1.00
R5455:Zpbp2 UTSW 11 98,448,429 (GRCm39) missense probably benign 0.31
R5633:Zpbp2 UTSW 11 98,445,584 (GRCm39) missense probably damaging 1.00
R5792:Zpbp2 UTSW 11 98,442,236 (GRCm39) intron probably benign
R5837:Zpbp2 UTSW 11 98,442,097 (GRCm39) start gained probably benign
R7073:Zpbp2 UTSW 11 98,443,335 (GRCm39) missense probably damaging 1.00
R8879:Zpbp2 UTSW 11 98,445,446 (GRCm39) missense probably benign 0.05
R9348:Zpbp2 UTSW 11 98,442,141 (GRCm39) intron probably benign
R9358:Zpbp2 UTSW 11 98,444,774 (GRCm39) missense probably benign 0.38
Predicted Primers PCR Primer
(F):5'- ACTAACTGGTATCATTGTCTAGGAGTG -3'
(R):5'- ACGAAGAACTTAAGTCATGGGC -3'

Sequencing Primer
(F):5'- ATCATTGTCTAGGAGTGTGTGTGTC -3'
(R):5'- GGATTGCCCACTGTTTAAGAGCAC -3'
Posted On 2022-03-25