Mutagenetix > Incidental Mutation

Incidental Mutation 'R4703:Stxbp2'

356213

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

041951-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4703 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3680955-3693644 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3682521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 37 (S37G)

Ref Sequence

ENSEMBL: ENSMUSP00000147220 (fasta)

Gene Model

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

AlphaFold

Q64324

Predicted Effect

unknown
Transcript: ENSMUST00000004745
AA Change: S36G

SMART Domains

Protein: ENSMUSP00000004745
Gene: ENSMUSG00000004626
AA Change: S36G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000159888

Predicted Effect

probably damaging
Transcript: ENSMUST00000159911
AA Change: S37G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160435

Predicted Effect

probably damaging
Transcript: ENSMUST00000160708
AA Change: S37G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125405
Gene: ENSMUSG00000004626
AA Change: S37G

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: ENSMUST00000162737

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162974

Predicted Effect

probably benign
Transcript: ENSMUST00000162867

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163044

Meta Mutation Damage Score

0.4589

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

97% (98/101)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	T	A	13: 59,837,342 (GRCm39)	T248S	possibly damaging	Het
AA986860	T	C	1: 130,671,092 (GRCm39)	V438A	probably benign	Het
Adam25	G	T	8: 41,207,163 (GRCm39)	C143F	probably damaging	Het
Aox1	T	A	1: 58,398,116 (GRCm39)	F1286I	possibly damaging	Het
Apobec4	A	G	1: 152,632,001 (GRCm39)	T10A	probably benign	Het
Arhgap5	C	T	12: 52,564,366 (GRCm39)	P446S	probably damaging	Het
Arhgef40	A	G	14: 52,239,767 (GRCm39)	N1327S	probably damaging	Het
Armc12	A	G	17: 28,751,336 (GRCm39)	D110G	probably benign	Het
Ascc1	A	G	10: 59,885,624 (GRCm39)	Y225C	probably damaging	Het
Aspscr1	A	T	11: 120,579,771 (GRCm39)	K39N	possibly damaging	Het
B4galnt1	G	T	10: 127,003,394 (GRCm39)	V172F	possibly damaging	Het
B4galt1	A	G	4: 40,823,569 (GRCm39)	V174A	probably benign	Het
Bcl11a	C	A	11: 24,113,725 (GRCm39)	A356E	possibly damaging	Het
Bri3bp	C	T	5: 125,528,830 (GRCm39)	L110F	probably damaging	Het
Cacna1b	T	C	2: 24,544,475 (GRCm39)	D1231G	probably damaging	Het
Ccdc33	T	A	9: 57,940,953 (GRCm39)	I430F	possibly damaging	Het
Cgn	A	G	3: 94,683,405 (GRCm39)		probably benign	Het
Crbn	T	A	6: 106,759,883 (GRCm39)	I317F	possibly damaging	Het
Cyp2d22	A	C	15: 82,260,118 (GRCm39)	L22R	probably damaging	Het
Dnah7a	C	T	1: 53,486,476 (GRCm39)		probably null	Het
Dnajc12	A	G	10: 63,222,429 (GRCm39)		probably null	Het
Dntt	T	A	19: 41,028,242 (GRCm39)	D179E	probably benign	Het
Enam	T	A	5: 88,651,650 (GRCm39)	L1053*	probably null	Het
Epn1	T	A	7: 5,098,147 (GRCm39)	D319E	probably damaging	Het
Evpl	C	G	11: 116,113,331 (GRCm39)	R1453P	probably damaging	Het
Focad	T	A	4: 88,260,558 (GRCm39)		probably null	Het
Foxp2	A	T	6: 15,411,247 (GRCm39)	M542L	probably benign	Het
Gak	T	A	5: 108,717,743 (GRCm39)	Q1299L	probably damaging	Het
Galnt5	G	T	2: 57,888,919 (GRCm39)	R173I	possibly damaging	Het
Gli1	G	T	10: 127,166,724 (GRCm39)	P843Q	possibly damaging	Het
Gm5422	G	T	10: 31,125,608 (GRCm39)		noncoding transcript	Het
Gna14	T	G	19: 16,576,344 (GRCm39)	V117G	possibly damaging	Het
Gpr6	T	C	10: 40,947,037 (GRCm39)	T182A	probably damaging	Het
Ifi204	C	A	1: 173,587,927 (GRCm39)		probably benign	Het
Ifih1	A	T	2: 62,429,220 (GRCm39)	L906H	probably benign	Het
Ift88	A	G	14: 57,718,307 (GRCm39)		probably benign	Het
Ighd	A	G	12: 113,379,661 (GRCm39)		probably benign	Het
Ighv11-1	A	C	12: 113,945,622 (GRCm39)	I77R	possibly damaging	Het
Il22	A	T	10: 118,041,511 (GRCm39)	I75F	probably damaging	Het
Il23r	A	T	6: 67,467,686 (GRCm39)	I27K	probably damaging	Het
Inpp5a	A	C	7: 139,138,839 (GRCm39)	N261T	probably damaging	Het
Ints8	T	G	4: 11,223,785 (GRCm39)	Q686P	possibly damaging	Het
Iqcf4	T	C	9: 106,445,519 (GRCm39)		probably null	Het
Irf2bp1	C	T	7: 18,739,496 (GRCm39)	R379C	possibly damaging	Het
Iws1	C	T	18: 32,213,066 (GRCm39)	P165S	probably benign	Het
Kalrn	T	C	16: 34,024,327 (GRCm39)	D610G	probably damaging	Het
Kcna10	A	T	3: 107,101,926 (GRCm39)	I186F	probably benign	Het
Limk2	C	A	11: 3,297,586 (GRCm39)	E329*	probably null	Het
Nadk	C	A	4: 155,669,684 (GRCm39)	P157T	probably benign	Het
Notch1	T	G	2: 26,361,170 (GRCm39)	K1107Q	probably benign	Het
Nsd1	T	A	13: 55,361,876 (GRCm39)	D281E	probably damaging	Het
Obi1	A	G	14: 104,743,644 (GRCm39)	L145P	probably benign	Het
Olfml2a	T	A	2: 38,841,250 (GRCm39)	L262Q	probably damaging	Het
Or1ab2	T	A	8: 72,864,044 (GRCm39)	F211L	probably damaging	Het
Or4k44	T	A	2: 111,368,113 (GRCm39)	I174L	probably benign	Het
Or51d1	A	T	7: 102,347,477 (GRCm39)	T11S	probably benign	Het
Or6k6	A	G	1: 173,944,964 (GRCm39)	I206T	possibly damaging	Het
Or7c19	A	G	8: 85,957,237 (GRCm39)	T38A	possibly damaging	Het
Otogl	A	C	10: 107,657,785 (GRCm39)	D1048E	probably damaging	Het
Oxnad1	T	C	14: 31,817,427 (GRCm39)	W96R	probably damaging	Het
Pcdh15	A	T	10: 74,285,995 (GRCm39)	D743V	probably damaging	Het
Pclo	A	G	5: 14,726,494 (GRCm39)		probably benign	Het
Pcnx1	C	T	12: 81,941,938 (GRCm39)	T112I	probably benign	Het
Pctp	T	C	11: 89,878,099 (GRCm39)	E145G	possibly damaging	Het
Pip5k1b	T	C	19: 24,332,517 (GRCm39)	K389R	probably damaging	Het
Pla2g15	T	A	8: 106,889,691 (GRCm39)	M321K	probably benign	Het
Pnlip	T	A	19: 58,664,899 (GRCm39)	D242E	probably damaging	Het
Ptpn21	T	C	12: 98,645,651 (GRCm39)	T1096A	probably benign	Het
Rims3	A	T	4: 120,740,494 (GRCm39)		probably benign	Het
Scfd2	T	A	5: 74,680,256 (GRCm39)	Q299L	probably benign	Het
Selplg	T	C	5: 113,957,094 (GRCm39)	D404G	probably benign	Het
Slc15a5	T	C	6: 138,032,643 (GRCm39)	D237G	probably benign	Het
Slc16a12	T	A	19: 34,652,291 (GRCm39)	H285L	possibly damaging	Het
Sox2	C	A	3: 34,704,862 (GRCm39)	R100S	probably damaging	Het
Sspo	G	A	6: 48,477,387 (GRCm39)	C4969Y	probably damaging	Het
Tbxas1	T	C	6: 39,060,791 (GRCm39)		probably null	Het
Tcf4	A	G	18: 69,790,981 (GRCm39)	Y307C	probably damaging	Het
Thsd7b	A	T	1: 129,977,646 (GRCm39)		probably benign	Het
Tnn	G	T	1: 159,943,815 (GRCm39)	D999E	possibly damaging	Het
Trmt13	C	A	3: 116,388,247 (GRCm39)	W63L	probably benign	Het
Tsc2	T	C	17: 24,823,883 (GRCm39)	N915S	probably benign	Het
Tyrp1	T	A	4: 80,759,043 (GRCm39)		probably null	Het
Uvrag	A	T	7: 98,638,794 (GRCm39)	I315N	probably damaging	Het
Vmn1r31	C	A	6: 58,448,953 (GRCm39)	*304L	probably null	Het
Vmn2r59	T	A	7: 41,661,686 (GRCm39)	I710L	probably benign	Het
Vmn2r82	A	T	10: 79,214,641 (GRCm39)	H208L	probably damaging	Het
Wtap	T	C	17: 13,199,711 (GRCm39)	T91A	probably benign	Het
Xirp1	A	T	9: 119,846,093 (GRCm39)	V930E	probably damaging	Het
Xpo4	T	G	14: 57,827,565 (GRCm39)	H877P	probably benign	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
R2195:Stxbp2	UTSW	8	3,684,615 (GRCm39)	splice site	probably null
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
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

PCR Primer
(F):5'- TACCCAGATCTATGCAGTGCC -3'
(R):5'- GGAAGGAATCCTATAAACCTCCTC -3'

Sequencing Primer
(F):5'- GCTATGAGAGTTGCCTCCAGAATTC -3'
(R):5'- CTCCAGGCTATGTAGGGAGAACTTC -3'

Posted On

2015-10-21