Incidental Mutation 'R1445:Zpbp2'
ID 158810
Institutional Source Beutler Lab
Gene Symbol Zpbp2
Ensembl Gene ENSMUSG00000017195
Gene Name zona pellucida binding protein 2
Synonyms 1700017D11Rik
MMRRC Submission 039500-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # R1445 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 98441923-98449491 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 98444670 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 66 (T66K)
Ref Sequence ENSEMBL: ENSMUSP00000103137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017339] [ENSMUST00000081033] [ENSMUST00000107509] [ENSMUST00000107511] [ENSMUST00000107513]
AlphaFold Q6X786
Predicted Effect probably damaging
Transcript: ENSMUST00000017339
AA Change: T88K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000017339
Gene: ENSMUSG00000017195
AA Change: T88K

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Sp38 55 326 9.6e-142 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000081033
AA Change: T88K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079822
Gene: ENSMUSG00000017195
AA Change: T88K

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 benign
Transcript: ENSMUST00000107509
AA Change: T34K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103133
Gene: ENSMUSG00000017195
AA Change: T34K

DomainStartEndE-ValueType
Pfam:Sp38 1 272 1.1e-141 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107511
AA Change: T34K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103135
Gene: ENSMUSG00000017195
AA Change: T34K

DomainStartEndE-ValueType
Pfam:Sp38 1 272 1.1e-141 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107513
AA Change: T66K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103137
Gene: ENSMUSG00000017195
AA Change: T66K

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Sp38 33 304 4.5e-142 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126236
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 93.9%
  • 20x: 84.0%
Validation Efficiency 96% (101/105)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061I17Rik G T 3: 116,861,385 (GRCm39) noncoding transcript Het
2300003K06Rik G T 11: 99,728,793 (GRCm39) Q17K probably benign Het
Abca16 T C 7: 120,119,256 (GRCm39) V999A probably benign Het
Actn3 C T 19: 4,915,483 (GRCm39) probably benign Het
Agap2 T A 10: 126,926,981 (GRCm39) probably benign Het
Ago3 C A 4: 126,265,580 (GRCm39) R278L probably benign Het
Aldh1a2 T C 9: 71,192,492 (GRCm39) V449A possibly damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Aplnr A G 2: 84,967,353 (GRCm39) Y126C probably damaging Het
Apob T C 12: 8,066,084 (GRCm39) I4351T possibly damaging Het
Ash1l T C 3: 88,914,659 (GRCm39) L1763P probably benign Het
Aspn T C 13: 49,710,849 (GRCm39) S165P possibly damaging Het
Atg13 A T 2: 91,510,335 (GRCm39) V349E probably damaging Het
Atp1b2 T A 11: 69,493,309 (GRCm39) probably null Het
B3glct A T 5: 149,677,604 (GRCm39) D411V probably damaging Het
Bcar3 A T 3: 122,316,840 (GRCm39) I255F probably damaging Het
Cacna1b G A 2: 24,608,148 (GRCm39) probably benign Het
Cep164 T G 9: 45,690,198 (GRCm39) E675A possibly damaging Het
Chd1l C T 3: 97,490,047 (GRCm39) E503K probably benign Het
Chst8 C A 7: 34,447,593 (GRCm39) M8I possibly damaging Het
Clec4n A G 6: 123,212,475 (GRCm39) E67G probably benign Het
Cobll1 A T 2: 64,929,480 (GRCm39) D653E probably damaging Het
Col9a1 T C 1: 24,276,579 (GRCm39) probably null Het
Crip2 T C 12: 113,107,124 (GRCm39) L30P probably damaging Het
Ctbp1 C T 5: 33,418,407 (GRCm39) V22I probably benign Het
Cwc22 T C 2: 77,747,521 (GRCm39) probably benign Het
Cyp4a32 C A 4: 115,460,147 (GRCm39) Y119* probably null Het
Dido1 G T 2: 180,313,263 (GRCm39) A463E possibly damaging Het
Dnah7a G A 1: 53,567,956 (GRCm39) P1880L probably benign Het
Dock2 T A 11: 34,189,705 (GRCm39) T1489S probably benign Het
Dsp A G 13: 38,375,907 (GRCm39) T1231A probably damaging Het
Eif2ak1 G T 5: 143,810,717 (GRCm39) probably benign Het
Entrep1 G A 19: 23,998,998 (GRCm39) T140M probably damaging Het
Epc1 A T 18: 6,452,360 (GRCm39) M233K probably damaging Het
Gigyf2 A G 1: 87,371,360 (GRCm39) probably benign Het
Greb1 T G 12: 16,757,852 (GRCm39) H58P probably damaging Het
Gtpbp1 T C 15: 79,597,649 (GRCm39) I348T possibly damaging Het
Hck A T 2: 152,970,192 (GRCm39) N64Y probably benign Het
Herc2 T C 7: 55,818,744 (GRCm39) S2812P probably damaging Het
Inpp4b T A 8: 82,679,463 (GRCm39) probably null Het
Kcnq5 A C 1: 21,475,248 (GRCm39) S473A probably benign Het
Lrat T G 3: 82,810,676 (GRCm39) D115A probably damaging Het
Lyst A G 13: 13,814,639 (GRCm39) I1131M possibly damaging Het
Man2a2 T C 7: 80,018,310 (GRCm39) D160G probably benign Het
Marf1 C T 16: 13,933,688 (GRCm39) D1567N probably benign Het
Mars1 T C 10: 127,133,857 (GRCm39) D680G possibly damaging Het
Mat1a T C 14: 40,843,797 (GRCm39) S339P probably damaging Het
Megf8 T C 7: 25,042,081 (GRCm39) S1300P probably damaging Het
Mga T C 2: 119,733,179 (GRCm39) L9S probably damaging Het
Mllt6 T C 11: 97,563,277 (GRCm39) probably benign Het
Mrpl37 A G 4: 106,921,692 (GRCm39) L179P probably benign Het
Mtnr1a G T 8: 45,540,782 (GRCm39) V248L probably benign Het
Mylk T C 16: 34,635,835 (GRCm39) S19P possibly damaging Het
Or11g1 A G 14: 50,651,858 (GRCm39) T286A probably damaging Het
Pacc1 A G 1: 191,080,559 (GRCm39) probably benign Het
Parp8 A T 13: 117,161,886 (GRCm39) probably null Het
Pcnx2 T C 8: 126,479,023 (GRCm39) D2075G probably damaging Het
Pigo A T 4: 43,021,460 (GRCm39) I494K probably benign Het
Pkd1l1 A T 11: 8,820,313 (GRCm39) D1217E probably benign Het
Pkhd1l1 T C 15: 44,369,040 (GRCm39) V895A probably benign Het
Plcb4 A T 2: 135,842,109 (GRCm39) H1031L possibly damaging Het
Plxnb1 A G 9: 108,937,989 (GRCm39) K1245R probably null Het
Pold1 C T 7: 44,192,181 (GRCm39) probably benign Het
Ptprq T C 10: 107,498,423 (GRCm39) I885V probably damaging Het
Ptprz1 A G 6: 23,050,473 (GRCm39) D1398G probably damaging Het
Pygm G A 19: 6,439,917 (GRCm39) A364T probably benign Het
Rbl1 T C 2: 157,035,018 (GRCm39) N354S probably benign Het
Scgb2b19 C T 7: 32,979,037 (GRCm39) probably null Het
Slc26a8 C T 17: 28,867,187 (GRCm39) V545M possibly damaging Het
Slc27a1 T A 8: 72,036,757 (GRCm39) probably null Het
Smpd1 A G 7: 105,205,881 (GRCm39) D416G possibly damaging Het
Sorbs3 A G 14: 70,431,095 (GRCm39) V284A probably benign Het
Stfa2l1 T C 16: 35,982,154 (GRCm39) V75A probably damaging Het
Syndig1 A G 2: 149,772,841 (GRCm39) D166G probably damaging Het
Tcp10a G A 17: 7,593,406 (GRCm39) probably null Het
Themis2 T A 4: 132,510,212 (GRCm39) I663F possibly damaging Het
Thrap3 T C 4: 126,070,129 (GRCm39) Q586R probably damaging Het
Tinag C A 9: 76,952,798 (GRCm39) C62F probably damaging Het
Tmod1 T C 4: 46,090,884 (GRCm39) Y146H probably damaging Het
Tmprss4 T A 9: 45,095,683 (GRCm39) I54F possibly damaging Het
Tnks A C 8: 35,301,757 (GRCm39) probably benign Het
Trim43a GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT 9: 88,465,042 (GRCm39) probably benign Het
Trpc6 A G 9: 8,680,538 (GRCm39) E844G probably benign Het
Ubtd2 C T 11: 32,466,125 (GRCm39) R115W probably damaging Het
Ubxn6 T C 17: 56,376,042 (GRCm39) D373G probably benign Het
Upf1 T A 8: 70,794,174 (GRCm39) Q244L probably benign Het
Usp33 A G 3: 152,074,271 (GRCm39) I372M probably damaging Het
Usp34 A G 11: 23,301,629 (GRCm39) E351G probably damaging Het
Utrn A G 10: 12,554,318 (GRCm39) probably benign Het
Vmn1r78 A G 7: 11,886,508 (GRCm39) K40E possibly damaging Het
Vmn2r7 T A 3: 64,632,223 (GRCm39) M80L probably benign Het
Vps13a G T 19: 16,678,602 (GRCm39) Y1126* probably null Het
Wfdc11 T C 2: 164,506,366 (GRCm39) N60S probably benign Het
Wnk2 C T 13: 49,224,586 (GRCm39) D992N 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
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
R9234:Zpbp2 UTSW 11 98,443,398 (GRCm39) missense probably damaging 0.96
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'- AGTGTGCCCGGCTCATGTAATTC -3'
(R):5'- CACTGGAAAGATGGCTCAGGACC -3'

Sequencing Primer
(F):5'- aaggcagaagcaggcag -3'
(R):5'- TTACCAAAGACCAGAAAGTCATATTT -3'
Posted On 2014-03-14