Mutagenetix > Incidental Mutation

Incidental Mutation 'R2195:Stxbp2'

266102

Institutional Source

Beutler Lab

Gene Symbol

Stxbp2

Ensembl Gene

ENSMUSG00000004626

Gene Name

syntaxin binding protein 2

Synonyms

muSec1, C79054, Sxtp2, Munc18b, Munc-18b, Munc-18-2

MMRRC Submission

040197-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2195 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3680955-3693644 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 3684615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125405 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159888] [ENSMUST00000159911] [ENSMUST00000160708] [ENSMUST00000162867]

AlphaFold

Q64324

Predicted Effect

probably null
Transcript: ENSMUST00000004745

SMART Domains

Protein: ENSMUSP00000004745
Gene: ENSMUSG00000004626

Domain	Start	End	E-Value	Type
Pfam:Sec1	29	580	6.8e-113	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159370

Predicted Effect

probably benign
Transcript: ENSMUST00000159888

Predicted Effect

probably null
Transcript: ENSMUST00000159911

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160435

Predicted Effect

probably null
Transcript: ENSMUST00000160708

SMART Domains

Protein: ENSMUSP00000125405
Gene: ENSMUSG00000004626

Domain	Start	End	E-Value	Type
Pfam:Sec1	29	579	4.9e-112	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161982

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163044

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162737

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162974

Predicted Effect

probably benign
Transcript: ENSMUST00000162867

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete preweaning lethality. Mice heterozygous for this allele exhibit decreased stimulated mucin secretion, release of histones in stimulated mast cells and decreased susceptibility to type I hypersensitivity reaction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	A	T	15: 72,991,318 (GRCm39)	V540E	probably benign	Het
Cep295	T	A	9: 15,243,617 (GRCm39)	Q1613L	probably damaging	Het
Cib3	A	T	8: 72,958,257 (GRCm39)	I160N	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Coq10b	T	A	1: 55,100,457 (GRCm39)	L47Q	probably damaging	Het
Impg2	T	C	16: 56,080,497 (GRCm39)	V767A	probably benign	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kmt2e	T	C	5: 23,707,194 (GRCm39)		probably null	Het
Marf1	T	C	16: 13,929,563 (GRCm39)	D1681G	probably benign	Het
Nid1	G	T	13: 13,650,788 (GRCm39)	V442L	probably damaging	Het
Or13a21	T	C	7: 139,999,138 (GRCm39)	T183A	possibly damaging	Het
Or8k32	T	C	2: 86,369,247 (GRCm39)	E2G	probably benign	Het
Ppfia1	T	C	7: 144,069,844 (GRCm39)	N363S	probably damaging	Het
Tnf	A	G	17: 35,420,089 (GRCm39)		probably null	Het
Zkscan7	T	C	9: 122,724,686 (GRCm39)	F552L	possibly damaging	Het

Other mutations in Stxbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Stxbp2	APN	8	3,686,354 (GRCm39)	critical splice acceptor site	probably null
IGL00466:Stxbp2	APN	8	3,684,065 (GRCm39)	missense	probably benign	0.29
IGL02315:Stxbp2	APN	8	3,685,607 (GRCm39)	unclassified	probably benign
IGL02508:Stxbp2	APN	8	3,682,531 (GRCm39)	missense	probably damaging	1.00
IGL02811:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL02833:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL02868:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL02869:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL02896:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL02926:Stxbp2	APN	8	3,685,629 (GRCm39)	missense	probably benign	0.31
IGL02927:Stxbp2	APN	8	3,692,685 (GRCm39)	missense	possibly damaging	0.95
IGL02928:Stxbp2	APN	8	3,691,736 (GRCm39)	missense	probably damaging	0.99
IGL02943:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL02945:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL02948:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL02951:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL02972:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL02976:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL02977:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL02983:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL02993:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL03008:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL03009:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL03038:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL03051:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL03061:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL03072:Stxbp2	APN	8	3,691,971 (GRCm39)	missense	probably benign	0.44
IGL03110:Stxbp2	APN	8	3,683,342 (GRCm39)	missense	probably damaging	1.00
IGL02988:Stxbp2	UTSW	8	3,683,267 (GRCm39)	intron	probably benign
R0463:Stxbp2	UTSW	8	3,682,559 (GRCm39)	missense	probably damaging	1.00
R0608:Stxbp2	UTSW	8	3,682,559 (GRCm39)	missense	probably damaging	1.00
R0755:Stxbp2	UTSW	8	3,692,019 (GRCm39)	missense	probably benign	0.01
R1328:Stxbp2	UTSW	8	3,692,657 (GRCm39)	missense	possibly damaging	0.56
R1771:Stxbp2	UTSW	8	3,684,064 (GRCm39)	missense	probably benign	0.01
R1962:Stxbp2	UTSW	8	3,692,672 (GRCm39)	missense	probably benign	0.00
R2319:Stxbp2	UTSW	8	3,683,834 (GRCm39)	missense	possibly damaging	0.95
R3614:Stxbp2	UTSW	8	3,681,196 (GRCm39)	missense	possibly damaging	0.94
R3870:Stxbp2	UTSW	8	3,684,079 (GRCm39)	missense	probably damaging	1.00
R3876:Stxbp2	UTSW	8	3,683,369 (GRCm39)	critical splice donor site	probably null
R4703:Stxbp2	UTSW	8	3,682,521 (GRCm39)	missense	probably damaging	1.00
R6533:Stxbp2	UTSW	8	3,692,683 (GRCm39)	missense	probably benign	0.01
R6623:Stxbp2	UTSW	8	3,682,561 (GRCm39)	missense	probably damaging	1.00
R6665:Stxbp2	UTSW	8	3,691,998 (GRCm39)	missense	probably benign	0.41
R6798:Stxbp2	UTSW	8	3,691,180 (GRCm39)	missense	probably benign
R7152:Stxbp2	UTSW	8	3,682,583 (GRCm39)	missense	probably benign	0.33
R7326:Stxbp2	UTSW	8	3,691,151 (GRCm39)	missense
R8237:Stxbp2	UTSW	8	3,685,695 (GRCm39)	missense
R8268:Stxbp2	UTSW	8	3,682,234 (GRCm39)	missense
R8709:Stxbp2	UTSW	8	3,683,914 (GRCm39)	missense	possibly damaging	0.50
R8811:Stxbp2	UTSW	8	3,689,541 (GRCm39)	missense
R9018:Stxbp2	UTSW	8	3,692,627 (GRCm39)	intron	probably benign
R9043:Stxbp2	UTSW	8	3,684,478 (GRCm39)	missense
R9048:Stxbp2	UTSW	8	3,687,218 (GRCm39)	missense
R9212:Stxbp2	UTSW	8	3,686,220 (GRCm39)	missense
R9421:Stxbp2	UTSW	8	3,682,264 (GRCm39)	missense
R9643:Stxbp2	UTSW	8	3,686,392 (GRCm39)	missense
Z1177:Stxbp2	UTSW	8	3,691,123 (GRCm39)	missense	probably benign

Predicted Primers

Posted On

2015-02-05