Incidental Mutation 'IGL02127:Zpbp2'
ID280931
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zpbp2
Ensembl Gene ENSMUSG00000017195
Gene Namezona pellucida binding protein 2
Synonyms1700017D11Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.232) question?
Stock #IGL02127
Quality Score
Status
Chromosome11
Chromosomal Location98551097-98558665 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 98555541 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 172 (E172G)
Ref Sequence ENSEMBL: ENSMUSP00000103135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017339] [ENSMUST00000081033] [ENSMUST00000107509] [ENSMUST00000107511] [ENSMUST00000107513]
Predicted Effect probably damaging
Transcript: ENSMUST00000017339
AA Change: E226G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000017339
Gene: ENSMUSG00000017195
AA Change: E226G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Sp38 55 326 9.6e-142 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000081033
AA Change: E153G

PolyPhen 2 Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000079822
Gene: ENSMUSG00000017195
AA Change: E153G

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: E172G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103133
Gene: ENSMUSG00000017195
AA Change: E172G

DomainStartEndE-ValueType
Pfam:Sp38 1 272 1.1e-141 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107511
AA Change: E172G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103135
Gene: ENSMUSG00000017195
AA Change: E172G

DomainStartEndE-ValueType
Pfam:Sp38 1 272 1.1e-141 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107513
AA Change: E204G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103137
Gene: ENSMUSG00000017195
AA Change: E204G

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Sp38 33 304 4.5e-142 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126236
Coding Region Coverage
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A T 7: 28,897,880 M661K probably benign Het
Arpin G A 7: 79,928,193 R163W probably benign Het
Atm C A 9: 53,487,983 D1573Y probably damaging Het
Avil A G 10: 127,011,826 N540S probably benign Het
Btnl6 T C 17: 34,514,043 Q282R probably benign Het
Cacna2d3 T C 14: 29,063,875 probably benign Het
Cd300ld4 T C 11: 115,022,719 N170S probably benign Het
Cgnl1 T A 9: 71,725,853 N72I probably damaging Het
Cntnap3 T C 13: 64,799,064 probably benign Het
Col27a1 A T 4: 63,225,142 T356S possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp2c69 G T 19: 39,851,057 T374N probably damaging Het
Cyp2d26 T C 15: 82,791,106 E349G probably benign Het
Dnah1 T C 14: 31,304,928 E713G probably benign Het
Dnah7b A T 1: 46,139,875 T903S probably benign Het
Enthd1 T C 15: 80,452,742 D497G probably damaging Het
Grk4 C T 5: 34,710,186 T165I probably benign Het
Hmcn1 G A 1: 150,722,607 S1648L probably benign Het
Ints11 A G 4: 155,886,863 Y278C probably damaging Het
Kcnu1 T C 8: 25,892,062 L480P probably damaging Het
Kif1bp C T 10: 62,578,349 R10H probably benign Het
Kif5c G A 2: 49,701,110 probably null Het
Klhl35 T C 7: 99,471,681 probably benign Het
Lemd3 A T 10: 120,926,028 D807E possibly damaging Het
Lrrc37a G A 11: 103,504,539 T20I probably benign Het
Mab21l1 C T 3: 55,783,595 A201V probably benign Het
Mab21l2 T C 3: 86,546,817 D292G possibly damaging Het
Map3k21 T C 8: 125,942,147 L824P probably benign Het
Myo5a T C 9: 75,212,981 V1687A probably benign Het
Myo5c G T 9: 75,300,902 W1639C probably damaging Het
Nfya G T 17: 48,393,255 probably benign Het
Olfr1249 A G 2: 89,630,754 I48T probably damaging Het
Papolg A G 11: 23,870,870 probably benign Het
Pcdh8 G A 14: 79,769,246 R626C probably damaging Het
Pclo T C 5: 14,765,145 probably benign Het
Pogz T C 3: 94,874,703 probably benign Het
Polg G A 7: 79,458,167 probably benign Het
Scn9a A T 2: 66,494,826 I1317K probably damaging Het
Scn9a A G 2: 66,547,135 V401A probably damaging Het
St7 T A 6: 17,844,969 probably benign Het
Tdo2 C T 3: 81,958,925 V344M probably damaging Het
Trmt1 T C 8: 84,697,471 V400A probably damaging Het
Trrap A G 5: 144,816,433 N1856S probably benign Het
Ube3a G A 7: 59,276,041 G210D probably benign Het
Ubqln5 A G 7: 104,129,482 V45A probably damaging Het
Wdpcp T A 11: 21,711,958 M410K possibly damaging Het
Xpa G A 4: 46,185,606 T124M probably damaging Het
Other mutations in Zpbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00819:Zpbp2 APN 11 98557592 missense probably damaging 1.00
IGL02612:Zpbp2 APN 11 98555517 missense probably benign 0.01
R0709:Zpbp2 UTSW 11 98553937 missense probably damaging 1.00
R0959:Zpbp2 UTSW 11 98557625 missense probably benign 0.16
R1445:Zpbp2 UTSW 11 98553844 missense probably damaging 1.00
R2032:Zpbp2 UTSW 11 98554708 missense probably damaging 1.00
R3621:Zpbp2 UTSW 11 98552556 missense probably benign 0.08
R4328:Zpbp2 UTSW 11 98557606 missense probably benign 0.06
R4685:Zpbp2 UTSW 11 98551291 intron probably benign
R4957:Zpbp2 UTSW 11 98551324 critical splice donor site probably null
R5395:Zpbp2 UTSW 11 98558213 missense probably damaging 1.00
R5455:Zpbp2 UTSW 11 98557603 missense probably benign 0.31
R5633:Zpbp2 UTSW 11 98554758 missense probably damaging 1.00
R5792:Zpbp2 UTSW 11 98551410 intron probably benign
R5837:Zpbp2 UTSW 11 98551271 start gained probably benign
R7073:Zpbp2 UTSW 11 98552509 missense probably damaging 1.00
Posted On2015-04-16