Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00870:Serpinb2'

13975

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 #

IGL00870

Quality Score

Status

Chromosome

Chromosomal Location

107439153-107453330 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107450800 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

P12388

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

Domain	Start	End	E-Value	Type
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

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

Predicted Effect

unknown
Transcript: ENSMUST00000143832
AA Change: I57V

SMART Domains

Protein: ENSMUSP00000114751
Gene: ENSMUSG00000062345
AA Change: I57V

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	A	19: 8,991,062 (GRCm39)	D4115E	probably damaging	Het
Asb5	T	C	8: 55,036,695 (GRCm39)		probably null	Het
Cpeb3	A	T	19: 37,031,695 (GRCm39)	I569N	probably damaging	Het
Cpsf7	T	C	19: 10,517,014 (GRCm39)		probably null	Het
Dlat	A	G	9: 50,562,169 (GRCm39)	L285P	probably damaging	Het
Dytn	T	C	1: 63,716,272 (GRCm39)		probably benign	Het
Ears2	A	T	7: 121,654,899 (GRCm39)	L123Q	probably damaging	Het
Gad2	T	C	2: 22,519,983 (GRCm39)	V212A	probably benign	Het
Gon4l	T	C	3: 88,764,492 (GRCm39)	Y358H	probably damaging	Het
Gys1	T	C	7: 45,097,437 (GRCm39)		probably null	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Krtap20-2	G	A	16: 89,002,875 (GRCm39)	G25D	unknown	Het
Lrif1	T	C	3: 106,641,957 (GRCm39)		probably null	Het
Naip2	A	G	13: 100,288,568 (GRCm39)		probably benign	Het
Or8b37	A	T	9: 37,959,036 (GRCm39)	I173F	probably damaging	Het
Oxct1	T	A	15: 4,131,300 (GRCm39)	L396Q	probably damaging	Het
Pclo	A	T	5: 14,589,997 (GRCm39)	R766W	unknown	Het
Pkhd1	T	A	1: 20,641,614 (GRCm39)	I275F	probably damaging	Het
Rxfp3	A	G	15: 11,036,301 (GRCm39)	F357S	probably damaging	Het
Rxfp3	A	G	15: 11,036,391 (GRCm39)	V327A	probably damaging	Het
Smad5	A	G	13: 56,871,480 (GRCm39)	D25G	probably benign	Het
Strada	A	G	11: 106,062,083 (GRCm39)	L82P	probably damaging	Het
Tek	T	A	4: 94,761,318 (GRCm39)	Y1079*	probably null	Het
Tenm3	T	C	8: 48,870,167 (GRCm39)	T209A	probably benign	Het
Tnks1bp1	C	T	2: 84,892,580 (GRCm39)	Q836*	probably null	Het
Toporsl	T	C	4: 52,610,172 (GRCm39)	S22P	probably benign	Het
Ttc17	T	C	2: 94,202,078 (GRCm39)		probably null	Het
Ttc39a	A	G	4: 109,299,542 (GRCm39)		probably benign	Het
Vangl1	T	C	3: 102,096,756 (GRCm39)	D60G	probably damaging	Het
Vmn1r13	A	T	6: 57,187,098 (GRCm39)	M86L	probably benign	Het
Vmn1r220	C	T	13: 23,368,647 (GRCm39)	M16I	probably null	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
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