Incidental Mutation 'IGL00818:Serpinb2'
ID 13976
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinb2
Ensembl Gene ENSMUSG00000062345
Gene Name serine (or cysteine) peptidase inhibitor, clade B, member 2
Synonyms ovalbumin, Planh2, PAI-2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00818
Quality Score
Status
Chromosome 1
Chromosomal Location 107439153-107453330 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107452466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 348 (D348G)
Ref Sequence ENSEMBL: ENSMUSP00000065277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009356] [ENSMUST00000064916] [ENSMUST00000146597] [ENSMUST00000182198]
AlphaFold P12388
Predicted Effect probably benign
Transcript: ENSMUST00000009356
AA Change: D348G

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000009356
Gene: ENSMUSG00000062345
AA Change: D348G

DomainStartEndE-ValueType
SERPIN 13 415 1.07e-188 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000064916
AA Change: D348G

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000065277
Gene: ENSMUSG00000062345
AA Change: D348G

DomainStartEndE-ValueType
SERPIN 13 415 1.07e-188 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143832
SMART Domains Protein: ENSMUSP00000114751
Gene: ENSMUSG00000062345

DomainStartEndE-ValueType
SERPIN 1 189 2.36e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000146597
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172762
Predicted Effect probably benign
Transcript: ENSMUST00000182198
SMART Domains Protein: ENSMUSP00000138771
Gene: ENSMUSG00000092572

DomainStartEndE-ValueType
SERPIN 1 320 6.18e-139 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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 A G 7: 75,259,475 (GRCm39) T700A probably benign Het
Brinp1 T A 4: 68,681,084 (GRCm39) D482V probably damaging Het
Cmtr2 A T 8: 110,949,732 (GRCm39) T681S probably benign Het
Dcc T A 18: 72,088,083 (GRCm39) M52L probably benign Het
Echdc1 A G 10: 29,193,616 (GRCm39) I38V probably benign Het
Gars1 G T 6: 55,027,338 (GRCm39) G144V probably damaging Het
Gp2 T C 7: 119,049,350 (GRCm39) T396A possibly damaging Het
Gpatch1 T C 7: 34,976,238 (GRCm39) probably null Het
Mfap4 A T 11: 61,378,607 (GRCm39) Q209L possibly damaging Het
Pdcd2l A T 7: 33,884,158 (GRCm39) M348K possibly damaging Het
Prkdc A T 16: 15,577,618 (GRCm39) T2391S possibly damaging Het
Rxrg C T 1: 167,454,857 (GRCm39) probably benign Het
Tbc1d30 G A 10: 121,102,729 (GRCm39) probably benign Het
Tmtc3 T A 10: 100,307,342 (GRCm39) T221S probably benign Het
Tro C T X: 149,431,357 (GRCm39) G1203D probably damaging Het
Ttn T A 2: 76,552,092 (GRCm39) T31182S probably damaging Het
Zranb3 T C 1: 127,960,604 (GRCm39) Y220C probably damaging Het
Other mutations in Serpinb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00870:Serpinb2 APN 1 107,450,800 (GRCm39) missense probably damaging 1.00
IGL01535:Serpinb2 APN 1 107,447,503 (GRCm39) critical splice donor site probably null
IGL01603:Serpinb2 APN 1 107,449,910 (GRCm39) missense probably benign 0.28
IGL01721:Serpinb2 APN 1 107,443,333 (GRCm39) missense probably damaging 1.00
IGL02536:Serpinb2 APN 1 107,452,679 (GRCm39) unclassified probably benign
IGL03167:Serpinb2 APN 1 107,450,485 (GRCm39) missense probably benign 0.04
IGL03184:Serpinb2 APN 1 107,452,607 (GRCm39) missense probably damaging 1.00
R1728:Serpinb2 UTSW 1 107,451,564 (GRCm39) missense probably benign 0.00
R1728:Serpinb2 UTSW 1 107,451,620 (GRCm39) missense probably benign
R1728:Serpinb2 UTSW 1 107,451,624 (GRCm39) missense probably benign 0.00
R1728:Serpinb2 UTSW 1 107,443,365 (GRCm39) missense probably damaging 0.97
R1728:Serpinb2 UTSW 1 107,452,273 (GRCm39) missense probably benign 0.00
R1729:Serpinb2 UTSW 1 107,451,620 (GRCm39) missense probably benign
R1729:Serpinb2 UTSW 1 107,451,624 (GRCm39) missense probably benign 0.00
R1729:Serpinb2 UTSW 1 107,452,273 (GRCm39) missense probably benign 0.00
R1729:Serpinb2 UTSW 1 107,443,365 (GRCm39) missense probably damaging 0.97
R1729:Serpinb2 UTSW 1 107,451,564 (GRCm39) missense probably benign 0.00
R1730:Serpinb2 UTSW 1 107,451,620 (GRCm39) missense probably benign
R1730:Serpinb2 UTSW 1 107,451,624 (GRCm39) missense probably benign 0.00
R1730:Serpinb2 UTSW 1 107,452,273 (GRCm39) missense probably benign 0.00
R1730:Serpinb2 UTSW 1 107,443,365 (GRCm39) missense probably damaging 0.97
R1730:Serpinb2 UTSW 1 107,451,564 (GRCm39) missense probably benign 0.00
R1739:Serpinb2 UTSW 1 107,451,620 (GRCm39) missense probably benign
R1739:Serpinb2 UTSW 1 107,451,624 (GRCm39) missense probably benign 0.00
R1739:Serpinb2 UTSW 1 107,452,273 (GRCm39) missense probably benign 0.00
R1739:Serpinb2 UTSW 1 107,443,365 (GRCm39) missense probably damaging 0.97
R1739:Serpinb2 UTSW 1 107,451,564 (GRCm39) missense probably benign 0.00
R1762:Serpinb2 UTSW 1 107,451,620 (GRCm39) missense probably benign
R1762:Serpinb2 UTSW 1 107,451,624 (GRCm39) missense probably benign 0.00
R1762:Serpinb2 UTSW 1 107,452,273 (GRCm39) missense probably benign 0.00
R1762:Serpinb2 UTSW 1 107,443,365 (GRCm39) missense probably damaging 0.97
R1762:Serpinb2 UTSW 1 107,451,564 (GRCm39) missense probably benign 0.00
R1783:Serpinb2 UTSW 1 107,451,624 (GRCm39) missense probably benign 0.00
R1783:Serpinb2 UTSW 1 107,452,273 (GRCm39) missense probably benign 0.00
R1783:Serpinb2 UTSW 1 107,443,365 (GRCm39) missense probably damaging 0.97
R1783:Serpinb2 UTSW 1 107,451,564 (GRCm39) missense probably benign 0.00
R1783:Serpinb2 UTSW 1 107,451,620 (GRCm39) missense probably benign
R1785:Serpinb2 UTSW 1 107,451,620 (GRCm39) missense probably benign
R1785:Serpinb2 UTSW 1 107,451,564 (GRCm39) missense probably benign 0.00
R1785:Serpinb2 UTSW 1 107,443,365 (GRCm39) missense probably damaging 0.97
R1785:Serpinb2 UTSW 1 107,452,273 (GRCm39) missense probably benign 0.00
R1785:Serpinb2 UTSW 1 107,451,624 (GRCm39) missense probably benign 0.00
R1889:Serpinb2 UTSW 1 107,452,337 (GRCm39) missense probably damaging 1.00
R1895:Serpinb2 UTSW 1 107,452,337 (GRCm39) missense probably damaging 1.00
R2056:Serpinb2 UTSW 1 107,451,543 (GRCm39) missense probably damaging 1.00
R2061:Serpinb2 UTSW 1 107,450,525 (GRCm39) missense possibly damaging 0.87
R2186:Serpinb2 UTSW 1 107,451,694 (GRCm39) splice site probably null
R4925:Serpinb2 UTSW 1 107,443,219 (GRCm39) missense probably benign 0.37
R5150:Serpinb2 UTSW 1 107,450,939 (GRCm39) critical splice donor site probably null
R5421:Serpinb2 UTSW 1 107,451,581 (GRCm39) missense probably damaging 1.00
R5899:Serpinb2 UTSW 1 107,447,446 (GRCm39) missense probably damaging 0.96
R6234:Serpinb2 UTSW 1 107,452,501 (GRCm39) missense probably damaging 1.00
R6243:Serpinb2 UTSW 1 107,450,869 (GRCm39) missense probably damaging 1.00
R7088:Serpinb2 UTSW 1 107,452,422 (GRCm39) missense probably damaging 1.00
R7192:Serpinb2 UTSW 1 107,452,306 (GRCm39) missense probably damaging 0.96
R8520:Serpinb2 UTSW 1 107,450,910 (GRCm39) missense probably benign 0.01
R8829:Serpinb2 UTSW 1 107,443,257 (GRCm39) missense probably benign 0.09
R8924:Serpinb2 UTSW 1 107,443,284 (GRCm39) missense possibly damaging 0.70
R8969:Serpinb2 UTSW 1 107,452,390 (GRCm39) missense probably damaging 1.00
R8990:Serpinb2 UTSW 1 107,450,428 (GRCm39) missense probably damaging 0.96
R9151:Serpinb2 UTSW 1 107,449,890 (GRCm39) missense possibly damaging 0.77
R9622:Serpinb2 UTSW 1 107,452,298 (GRCm39) missense probably benign 0.04
Posted On 2012-12-06