Incidental Mutation 'IGL00870:Serpinb2'
ID13975
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinb2
Ensembl Gene ENSMUSG00000062345
Gene Nameserine (or cysteine) peptidase inhibitor, clade B, member 2
SynonymsPAI-2, ovalbumin, Planh2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.048) question?
Stock #IGL00870
Quality Score
Status
Chromosome1
Chromosomal Location107511423-107535478 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 107523070 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 181 (I181V)
Ref Sequence ENSEMBL: ENSMUSP00000065277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009356] [ENSMUST00000064916] [ENSMUST00000146597]
Predicted Effect probably damaging
Transcript: ENSMUST00000009356
AA Change: I181V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000009356
Gene: ENSMUSG00000062345
AA Change: I181V

DomainStartEndE-ValueType
SERPIN 13 415 1.07e-188 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000064916
AA Change: I181V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000065277
Gene: ENSMUSG00000062345
AA Change: I181V

DomainStartEndE-ValueType
SERPIN 13 415 1.07e-188 SMART
Predicted Effect unknown
Transcript: ENSMUST00000143832
AA Change: I57V
SMART Domains Protein: ENSMUSP00000114751
Gene: ENSMUSG00000062345
AA Change: I57V

DomainStartEndE-ValueType
SERPIN 1 189 2.36e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000146597
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous inactivation of this gene leads to a slight to mild reduction in platelet, lymphocyte, neutrophil, and monocyte cell number. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 9,013,698 D4115E probably damaging Het
Asb5 T C 8: 54,583,660 probably null Het
Cpeb3 A T 19: 37,054,295 I569N probably damaging Het
Cpsf7 T C 19: 10,539,650 probably null Het
Dlat A G 9: 50,650,869 L285P probably damaging Het
Dytn T C 1: 63,677,113 probably benign Het
Ears2 A T 7: 122,055,676 L123Q probably damaging Het
Gad2 T C 2: 22,629,971 V212A probably benign Het
Gon4l T C 3: 88,857,185 Y358H probably damaging Het
Gys1 T C 7: 45,448,013 probably null Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Krtap20-2 G A 16: 89,205,987 G25D unknown Het
Lrif1 T C 3: 106,734,641 probably null Het
Naip2 A G 13: 100,152,060 probably benign Het
Olfr884 A T 9: 38,047,740 I173F probably damaging Het
Oxct1 T A 15: 4,101,818 L396Q probably damaging Het
Pclo A T 5: 14,539,983 R766W unknown Het
Pkhd1 T A 1: 20,571,390 I275F probably damaging Het
Rxfp3 A G 15: 11,036,215 F357S probably damaging Het
Rxfp3 A G 15: 11,036,305 V327A probably damaging Het
Smad5 A G 13: 56,723,667 D25G probably benign Het
Strada A G 11: 106,171,257 L82P probably damaging Het
Tek T A 4: 94,873,081 Y1079* probably null Het
Tenm3 T C 8: 48,417,132 T209A probably benign Het
Tnks1bp1 C T 2: 85,062,236 Q836* probably null Het
Toporsl T C 4: 52,610,172 S22P probably benign Het
Ttc17 T C 2: 94,371,733 probably null Het
Ttc39a A G 4: 109,442,345 probably benign Het
Vangl1 T C 3: 102,189,440 D60G probably damaging Het
Vmn1r13 A T 6: 57,210,113 M86L probably benign Het
Vmn1r220 C T 13: 23,184,477 M16I probably null Het
Other mutations in Serpinb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00818:Serpinb2 APN 1 107524736 missense probably benign 0.04
IGL01535:Serpinb2 APN 1 107519773 critical splice donor site probably null
IGL01603:Serpinb2 APN 1 107522180 missense probably benign 0.28
IGL01721:Serpinb2 APN 1 107515603 missense probably damaging 1.00
IGL02536:Serpinb2 APN 1 107524949 unclassified probably benign
IGL03167:Serpinb2 APN 1 107522755 missense probably benign 0.04
IGL03184:Serpinb2 APN 1 107524877 missense probably damaging 1.00
R1728:Serpinb2 UTSW 1 107515635 missense probably damaging 0.97
R1728:Serpinb2 UTSW 1 107523834 missense probably benign 0.00
R1728:Serpinb2 UTSW 1 107523890 missense probably benign
R1728:Serpinb2 UTSW 1 107523894 missense probably benign 0.00
R1728:Serpinb2 UTSW 1 107524543 missense probably benign 0.00
R1729:Serpinb2 UTSW 1 107515635 missense probably damaging 0.97
R1729:Serpinb2 UTSW 1 107523834 missense probably benign 0.00
R1729:Serpinb2 UTSW 1 107523890 missense probably benign
R1729:Serpinb2 UTSW 1 107523894 missense probably benign 0.00
R1729:Serpinb2 UTSW 1 107524543 missense probably benign 0.00
R1730:Serpinb2 UTSW 1 107515635 missense probably damaging 0.97
R1730:Serpinb2 UTSW 1 107523834 missense probably benign 0.00
R1730:Serpinb2 UTSW 1 107523890 missense probably benign
R1730:Serpinb2 UTSW 1 107523894 missense probably benign 0.00
R1730:Serpinb2 UTSW 1 107524543 missense probably benign 0.00
R1739:Serpinb2 UTSW 1 107515635 missense probably damaging 0.97
R1739:Serpinb2 UTSW 1 107523834 missense probably benign 0.00
R1739:Serpinb2 UTSW 1 107523890 missense probably benign
R1739:Serpinb2 UTSW 1 107523894 missense probably benign 0.00
R1739:Serpinb2 UTSW 1 107524543 missense probably benign 0.00
R1762:Serpinb2 UTSW 1 107515635 missense probably damaging 0.97
R1762:Serpinb2 UTSW 1 107523834 missense probably benign 0.00
R1762:Serpinb2 UTSW 1 107523890 missense probably benign
R1762:Serpinb2 UTSW 1 107523894 missense probably benign 0.00
R1762:Serpinb2 UTSW 1 107524543 missense probably benign 0.00
R1783:Serpinb2 UTSW 1 107515635 missense probably damaging 0.97
R1783:Serpinb2 UTSW 1 107523834 missense probably benign 0.00
R1783:Serpinb2 UTSW 1 107523890 missense probably benign
R1783:Serpinb2 UTSW 1 107523894 missense probably benign 0.00
R1783:Serpinb2 UTSW 1 107524543 missense probably benign 0.00
R1785:Serpinb2 UTSW 1 107515635 missense probably damaging 0.97
R1785:Serpinb2 UTSW 1 107523834 missense probably benign 0.00
R1785:Serpinb2 UTSW 1 107523890 missense probably benign
R1785:Serpinb2 UTSW 1 107523894 missense probably benign 0.00
R1785:Serpinb2 UTSW 1 107524543 missense probably benign 0.00
R1889:Serpinb2 UTSW 1 107524607 missense probably damaging 1.00
R1895:Serpinb2 UTSW 1 107524607 missense probably damaging 1.00
R2056:Serpinb2 UTSW 1 107523813 missense probably damaging 1.00
R2061:Serpinb2 UTSW 1 107522795 missense possibly damaging 0.87
R2186:Serpinb2 UTSW 1 107523964 splice site probably null
R4925:Serpinb2 UTSW 1 107515489 missense probably benign 0.37
R5150:Serpinb2 UTSW 1 107523209 critical splice donor site probably null
R5421:Serpinb2 UTSW 1 107523851 missense probably damaging 1.00
R5899:Serpinb2 UTSW 1 107519716 missense probably damaging 0.96
R6234:Serpinb2 UTSW 1 107524771 missense probably damaging 1.00
R6243:Serpinb2 UTSW 1 107523139 missense probably damaging 1.00
Posted On2012-12-06