Mutagenetix > Incidental Mutation

Incidental Mutation 'R4925:Serpinb2'

378921

Institutional Source

Beutler Lab

Gene Symbol

Serpinb2

Ensembl Gene

ENSMUSG00000062345

Gene Name

serine (or cysteine) peptidase inhibitor, clade B, member 2

Synonyms

PAI-2, ovalbumin, Planh2

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4925 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107511423-107535478 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107515489 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 6 (M6K)

Ref Sequence

ENSEMBL: ENSMUSP00000065277 (fasta)

Gene Model

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

AlphaFold

P12388

Predicted Effect

probably benign
Transcript: ENSMUST00000009356
AA Change: M6K

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000009356
Gene: ENSMUSG00000062345
AA Change: M6K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000064916
AA Change: M6K

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000065277
Gene: ENSMUSG00000062345
AA Change: M6K

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.7%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	A	11: 58,425,714	C173*	probably null	Het
2210407C18Rik	T	A	11: 58,610,687	T157S	probably damaging	Het
3425401B19Rik	T	A	14: 32,663,180	H276L	possibly damaging	Het
4930430A15Rik	T	C	2: 111,218,616	K273E	probably benign	Het
Adam21	T	G	12: 81,560,389	M200L	probably benign	Het
Adamts3	A	T	5: 89,684,323	S974T	probably benign	Het
Adamtsl3	T	A	7: 82,602,299		probably null	Het
Atp8b2	A	G	3: 89,946,623		probably null	Het
Brd8	T	C	18: 34,607,335	T552A	probably benign	Het
Btaf1	A	G	19: 37,011,333	S1826G	probably benign	Het
C330027C09Rik	T	C	16: 49,016,363		probably null	Het
Ccdc163	A	G	4: 116,711,331	E77G	possibly damaging	Het
Ces2g	A	G	8: 104,964,894	R194G	probably benign	Het
Cln8	A	G	8: 14,895,004	H106R	possibly damaging	Het
Col12a1	T	G	9: 79,674,795	L1391F	probably damaging	Het
Col16a1	G	A	4: 130,054,176	D230N	probably damaging	Het
Crhbp	C	A	13: 95,443,810	G87V	possibly damaging	Het
Cyp3a16	C	T	5: 145,452,834	M240I	probably benign	Het
Cyp4a14	A	T	4: 115,495,936	W60R	possibly damaging	Het
Fam47e	A	G	5: 92,585,290	Y304C	probably damaging	Het
Fgfbp1	A	T	5: 43,979,292	D219E	probably damaging	Het
Fgfr2	A	T	7: 130,185,272	Y485N	probably damaging	Het
Fhdc1	C	T	3: 84,453,533	V363M	probably damaging	Het
Foxb1	T	A	9: 69,760,155	E31V	probably damaging	Het
Galnt9	T	C	5: 110,544,739	V13A	possibly damaging	Het
Ghrl	T	C	6: 113,716,257	D77G	probably damaging	Het
Gm21731	A	G	13: 120,240,848	Y60C	probably damaging	Het
Gpr85	A	G	6: 13,835,978	V309A	probably benign	Het
Greb1	T	C	12: 16,681,471	Y1622C	probably damaging	Het
Greb1l	T	A	18: 10,547,447	M1555K	possibly damaging	Het
Grin2a	T	A	16: 9,669,823	N404Y	probably damaging	Het
Gtpbp1	A	C	15: 79,715,968	I399L	probably benign	Het
Hectd4	T	C	5: 121,322,690	S911P	possibly damaging	Het
Igkc	A	T	6: 70,726,536	K34*	probably null	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Iqgap1	T	A	7: 80,765,317	I149F	probably damaging	Het
Lama1	C	T	17: 67,794,314	A1934V	probably benign	Het
Lrp1	C	A	10: 127,575,075	E1415*	probably null	Het
Macf1	A	C	4: 123,526,652	C270G	probably benign	Het
Marveld3	A	G	8: 109,948,311	V291A	probably benign	Het
Med23	T	C	10: 24,910,747	F917S	probably damaging	Het
Mfng	C	T	15: 78,764,388	R163H	probably benign	Het
Ncan	A	T	8: 70,109,954	D551E	probably benign	Het
Olfr1269	T	A	2: 90,118,777	T274S	probably damaging	Het
Olfr382	A	T	11: 73,517,172	I9N	possibly damaging	Het
Olfr649	T	C	7: 104,190,180	Y9C	possibly damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pla2g12a	T	C	3: 129,878,818	W34R	probably damaging	Het
Plekha7	A	G	7: 116,158,128	F529S	probably damaging	Het
Ppl	T	A	16: 5,104,982	D215V	probably damaging	Het
Pramef20	A	T	4: 144,377,932	M1K	probably null	Het
Prdm1	T	A	10: 44,440,169	Y690F	probably damaging	Het
Prkcd	T	A	14: 30,607,613	D124V	probably damaging	Het
Ptprc	C	A	1: 138,099,497	D538Y	probably benign	Het
Rasl10b	G	A	11: 83,412,679	V21M	probably damaging	Het
Rgsl1	T	A	1: 153,812,277	Y657F	probably benign	Het
Rrn3	T	C	16: 13,799,972	C360R	probably damaging	Het
Scarb1	T	C	5: 125,297,299	T257A	probably damaging	Het
Slco4a1	T	C	2: 180,472,056	Y429H	probably benign	Het
St13	G	C	15: 81,399,585	R4G	probably benign	Het
Taar3	T	A	10: 23,950,543	F329Y	probably damaging	Het
Tardbp	A	T	4: 148,618,651	N285K	probably benign	Het
Tnni2	A	T	7: 142,442,693	E4V	probably benign	Het
Tnpo2	A	T	8: 85,050,025	I454F	probably damaging	Het
Tpr	T	G	1: 150,432,565	H1690Q	probably benign	Het
Trav18	T	C	14: 53,831,120	S6P	probably benign	Het
Trf	T	C	9: 103,219,246	N25S	probably benign	Het
Vmn1r59	T	C	7: 5,454,116	N215S	probably benign	Het
Vmn2r2	T	C	3: 64,137,471	M1V	probably null	Het
Wdr64	T	C	1: 175,724,702		probably null	Het
Wdr73	T	C	7: 80,893,195	S222G	probably benign	Het

Other mutations in Serpinb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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
R7088:Serpinb2	UTSW	1	107524692	missense	probably damaging	1.00
R7192:Serpinb2	UTSW	1	107524576	missense	probably damaging	0.96
R8520:Serpinb2	UTSW	1	107523180	missense	probably benign	0.01
R8829:Serpinb2	UTSW	1	107515527	missense	probably benign	0.09
R8924:Serpinb2	UTSW	1	107515554	missense	possibly damaging	0.70
R8969:Serpinb2	UTSW	1	107524660	missense	probably damaging	1.00
R8990:Serpinb2	UTSW	1	107522698	missense	probably damaging	0.96
R9151:Serpinb2	UTSW	1	107522160	missense	possibly damaging	0.77
R9622:Serpinb2	UTSW	1	107524568	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GTGATATGCACAGGATTGGTTACTG -3'
(R):5'- CAGGAGCAAGCCTACCATTC -3'

Sequencing Primer
(F):5'- CACAGGATTGGTTACTGTAAGC -3'
(R):5'- GGAGCAAGCCTACCATTCAATTCTG -3'

Posted On

2016-04-15