Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01535:Serpinb2'

89937

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 #

IGL01535

Quality Score

Status

Chromosome

Chromosomal Location

107439153-107453330 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 107447503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000065277 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009356] [ENSMUST00000064916] [ENSMUST00000146597]

AlphaFold

P12388

Predicted Effect

probably null
Transcript: ENSMUST00000009356

SMART Domains

Protein: ENSMUSP00000009356
Gene: ENSMUSG00000062345

Domain	Start	End	E-Value	Type
SERPIN	13	415	1.07e-188	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000064916

SMART Domains

Protein: ENSMUSP00000065277
Gene: ENSMUSG00000062345

Domain	Start	End	E-Value	Type
SERPIN	13	415	1.07e-188	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000143832

SMART Domains

Protein: ENSMUSP00000114751
Gene: ENSMUSG00000062345

Domain	Start	End	E-Value	Type
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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	A	18: 59,101,891 (GRCm39)	S654T	probably benign	Het
Brd10	T	C	19: 29,731,212 (GRCm39)	H600R	possibly damaging	Het
Cacnb3	A	T	15: 98,537,469 (GRCm39)	Q49L	probably benign	Het
Dapk1	A	G	13: 60,878,845 (GRCm39)		probably benign	Het
Dop1b	T	A	16: 93,566,846 (GRCm39)	L1091*	probably null	Het
Epb42	A	G	2: 120,858,169 (GRCm39)	V263A	probably damaging	Het
Fig4	T	G	10: 41,132,490 (GRCm39)	S439R	probably benign	Het
Gatc	A	T	5: 115,479,048 (GRCm39)	V54E	possibly damaging	Het
Hook2	T	C	8: 85,729,618 (GRCm39)	L686P	probably benign	Het
Med12l	A	T	3: 59,169,680 (GRCm39)	T1615S	probably damaging	Het
Msr1	C	T	8: 40,064,714 (GRCm39)	G320D	probably benign	Het
Nbeal1	T	A	1: 60,256,414 (GRCm39)	F220I	probably damaging	Het
Or14j2	T	A	17: 37,885,679 (GRCm39)	I212F	possibly damaging	Het
Or2l5	G	A	16: 19,334,228 (GRCm39)	H53Y	probably benign	Het
Pcdh10	A	T	3: 45,334,078 (GRCm39)	I131F	probably damaging	Het
Phlpp2	A	G	8: 110,660,697 (GRCm39)	E784G	possibly damaging	Het
Prr36	A	T	8: 4,264,043 (GRCm39)		probably benign	Het
Ptprq	G	A	10: 107,535,457 (GRCm39)	S436L	probably benign	Het
Rock1	T	A	18: 10,132,119 (GRCm39)		probably benign	Het
Sash1	T	G	10: 8,617,341 (GRCm39)	T522P	probably damaging	Het
Supt16	T	C	14: 52,414,647 (GRCm39)	K422E	probably damaging	Het
Syt14	T	G	1: 192,669,073 (GRCm39)	D60A	probably damaging	Het
Tbc1d2b	A	C	9: 90,097,526 (GRCm39)		probably benign	Het
Thsd7b	T	C	1: 129,605,954 (GRCm39)	I565T	possibly damaging	Het
Ttn	A	G	2: 76,564,536 (GRCm39)	Y28534H	probably damaging	Het
Vmn1r177	T	A	7: 23,565,765 (GRCm39)	H37L	probably damaging	Het
Vps13b	A	T	15: 35,455,103 (GRCm39)	N671Y	possibly damaging	Het

Other mutations in Serpinb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00818:Serpinb2	APN	1	107,452,466 (GRCm39)	missense	probably benign	0.04
IGL00870:Serpinb2	APN	1	107,450,800 (GRCm39)	missense	probably damaging	1.00
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

2013-12-03