Incidental Mutation 'IGL01721:Serpinb2'
ID105117
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 #IGL01721
Quality Score
Status
Chromosome1
Chromosomal Location107511423-107535478 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 107515603 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 44 (L44P)
Ref Sequence ENSEMBL: ENSMUSP00000065277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009356] [ENSMUST00000064916]
Predicted Effect probably damaging
Transcript: ENSMUST00000009356
AA Change: L44P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000009356
Gene: ENSMUSG00000062345
AA Change: L44P

DomainStartEndE-ValueType
SERPIN 13 415 1.07e-188 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000064916
AA Change: L44P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000065277
Gene: ENSMUSG00000062345
AA Change: L44P

DomainStartEndE-ValueType
SERPIN 13 415 1.07e-188 SMART
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700088E04Rik T C 15: 79,139,253 M51V possibly damaging Het
Acad8 A G 9: 26,992,267 probably benign Het
Atp2a2 A G 5: 122,500,792 V53A possibly damaging Het
Bicra T C 7: 15,988,699 T298A probably benign Het
Ccdc185 C T 1: 182,748,978 E49K possibly damaging Het
Cfhr2 A G 1: 139,813,614 S208P probably benign Het
Chd1 T C 17: 15,770,168 Y1661H probably damaging Het
Cntnap5a A G 1: 116,157,637 H435R probably benign Het
Cog8 A G 8: 107,054,065 V187A probably benign Het
Col24a1 A G 3: 145,538,567 H1532R probably benign Het
Dpp6 A G 5: 27,631,520 Y336C probably damaging Het
Drosha T A 15: 12,846,112 Y444* probably null Het
Egf A T 3: 129,697,722 C374* probably null Het
Eif2b3 C T 4: 117,058,804 H203Y probably damaging Het
Erbb4 A G 1: 68,254,563 V723A possibly damaging Het
Fbxo21 T C 5: 117,988,790 I202T probably benign Het
Gbp6 T C 5: 105,274,207 M544V probably benign Het
Gm10750 T C 2: 149,016,044 T96A unknown Het
Gm1840 A T 8: 5,639,896 noncoding transcript Het
Gm8232 A T 14: 44,437,183 probably null Het
Gsdma3 T C 11: 98,637,956 V412A possibly damaging Het
Hs6st1 A T 1: 36,068,935 H93L probably damaging Het
Hsf2 G A 10: 57,496,181 E77K probably benign Het
Ing3 T A 6: 21,968,880 probably benign Het
Ints6 T C 14: 62,713,739 I280M probably damaging Het
Kazn C A 4: 142,159,043 probably null Het
Klhl20 T C 1: 161,095,587 Y13C probably damaging Het
Krtap26-1 G A 16: 88,647,172 P187L probably damaging Het
Mga T A 2: 119,935,239 I1329K probably damaging Het
Mindy4 A G 6: 55,223,999 D223G probably damaging Het
Ncor2 T C 5: 125,050,937 E124G probably damaging Het
Nfat5 G A 8: 107,344,979 probably null Het
Nkain1 A G 4: 130,532,134 F184L probably benign Het
Olfr1061 T C 2: 86,413,333 T240A probably damaging Het
Rars A T 11: 35,828,664 F110L probably damaging Het
Rfx6 A C 10: 51,723,077 K509N probably damaging Het
Sin3a G A 9: 57,095,325 R167Q probably damaging Het
Sos2 T A 12: 69,603,867 T809S probably damaging Het
Stard9 A G 2: 120,703,330 E3356G probably damaging Het
Vmn1r52 A G 6: 90,178,923 T70A probably benign Het
Other mutations in Serpinb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00818:Serpinb2 APN 1 107524736 missense probably benign 0.04
IGL00870:Serpinb2 APN 1 107523070 missense probably damaging 1.00
IGL01535:Serpinb2 APN 1 107519773 critical splice donor site probably null
IGL01603:Serpinb2 APN 1 107522180 missense probably benign 0.28
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 On2014-01-21