Mutagenetix > Incidental Mutation

Incidental Mutation 'R7326:Stxbp2'

568911

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

045378-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7326 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3680955-3693644 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3691151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 465 (M465T)

Gene Model

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

AlphaFold

Q64324

Predicted Effect

SMART Domains

Protein: ENSMUSP00000004745
Gene: ENSMUSG00000004626
AA Change: M465T

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: ENSMUST00000160708
AA Change: M466T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125405
Gene: ENSMUSG00000004626
AA Change: M466T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,984,226 (GRCm39)	V652A	probably benign	Het
Acvrl1	G	T	15: 101,038,953 (GRCm39)	V417L	probably damaging	Het
Add1	A	G	5: 34,776,715 (GRCm39)	R479G	probably benign	Het
Adgb	A	T	10: 10,276,318 (GRCm39)	L350Q	possibly damaging	Het
Adgrl2	A	T	3: 148,552,506 (GRCm39)	S666T	probably benign	Het
Akap9	T	A	5: 4,095,930 (GRCm39)	D2268E	possibly damaging	Het
Amigo3	C	A	9: 107,931,265 (GRCm39)	H229Q	probably benign	Het
Ano6	G	C	15: 95,762,125 (GRCm39)	Q31H	possibly damaging	Het
Ap4m1	G	A	5: 138,173,281 (GRCm39)	D180N	probably damaging	Het
Apc2	A	T	10: 80,147,574 (GRCm39)	D876V	probably damaging	Het
Apcdd1	T	A	18: 63,085,259 (GRCm39)	Y485*	probably null	Het
Aqp1	G	T	6: 55,313,836 (GRCm39)	D121Y	probably benign	Het
Bicd2	C	A	13: 49,523,085 (GRCm39)	R141S	probably benign	Het
Brpf3	C	A	17: 29,025,267 (GRCm39)	H113Q	probably benign	Het
Cacng2	A	T	15: 77,897,520 (GRCm39)	Y96*	probably null	Het
Catsperg1	G	T	7: 28,910,184 (GRCm39)	N52K	possibly damaging	Het
Celsr2	A	C	3: 108,302,311 (GRCm39)	F2606V	possibly damaging	Het
Cerkl	A	T	2: 79,162,949 (GRCm39)	N516K	probably benign	Het
Ciita	G	A	16: 10,330,152 (GRCm39)	R812H	probably damaging	Het
Cldn3	T	A	5: 135,015,837 (GRCm39)	L180Q	probably damaging	Het
Cnot6l	T	C	5: 96,225,158 (GRCm39)	I512V	probably benign	Het
Col5a2	A	T	1: 45,482,027 (GRCm39)	D32E	unknown	Het
Coro7	A	G	16: 4,449,912 (GRCm39)	V616A	probably damaging	Het
Cyp4f18	T	C	8: 72,742,498 (GRCm39)	D494G	probably benign	Het
Ddx39a	T	A	8: 84,449,100 (GRCm39)	V296E	probably benign	Het
Dgkg	A	T	16: 22,367,440 (GRCm39)	H593Q	probably damaging	Het
Dhx16	T	C	17: 36,197,052 (GRCm39)	L645P	probably damaging	Het
Dnah14	A	G	1: 181,425,968 (GRCm39)	M171V	probably benign	Het
Dnhd1	G	A	7: 105,370,137 (GRCm39)	V4521I	probably damaging	Het
Dok7	A	T	5: 35,221,866 (GRCm39)	M60L	probably benign	Het
Donson	A	T	16: 91,485,599 (GRCm39)	M1K	probably null	Het
Dsp	C	T	13: 38,376,859 (GRCm39)	T1548M	probably benign	Het
Dyrk1a	A	G	16: 94,492,902 (GRCm39)	T712A	probably damaging	Het
Eef2	A	G	10: 81,017,116 (GRCm39)	T708A	probably benign	Het
Epn3	G	A	11: 94,384,606 (GRCm39)	T289I	probably benign	Het
Fam171a1	C	T	2: 3,227,509 (GRCm39)	R881*	probably null	Het
Fat2	T	A	11: 55,173,130 (GRCm39)	R2528W	probably damaging	Het
Fbxl9	T	C	8: 106,039,530 (GRCm39)	D127G	probably damaging	Het
Fgfr1	T	G	8: 26,063,855 (GRCm39)	F707C	probably damaging	Het
Frem2	G	C	3: 53,562,174 (GRCm39)	P778A	probably damaging	Het
Ganc	A	G	2: 120,261,080 (GRCm39)	Y255C	probably damaging	Het
Garin4	G	A	1: 190,896,550 (GRCm39)	T31M	probably benign	Het
Ginm1	A	T	10: 7,653,614 (GRCm39)	Y65*	probably null	Het
Gm11559	T	A	11: 99,755,707 (GRCm39)	C119S	unknown	Het
Gnai1	T	A	5: 18,494,549 (GRCm39)	H188L		Het
H2bc6	T	C	13: 23,769,906 (GRCm39)	K12E	probably benign	Het
H6pd	C	T	4: 150,080,807 (GRCm39)	A13T	probably benign	Het
Hoxd12	A	T	2: 74,505,590 (GRCm39)	T54S	possibly damaging	Het
Hs3st5	T	A	10: 36,709,190 (GRCm39)	L242M	probably damaging	Het
Il9r	C	A	11: 32,144,389 (GRCm39)	V139L	possibly damaging	Het
Immt	A	G	6: 71,823,353 (GRCm39)	D68G	probably damaging	Het
Itsn2	A	G	12: 4,682,985 (GRCm39)	I304V	unknown	Het
Lgr4	G	A	2: 109,826,974 (GRCm39)	W159*	probably null	Het
Lin52	G	A	12: 84,504,728 (GRCm39)	G38S	probably damaging	Het
Lpgat1	A	T	1: 191,451,565 (GRCm39)	M64L	probably benign	Het
Lrrc10b	G	T	19: 10,434,142 (GRCm39)	R180S	possibly damaging	Het
Lrrc36	A	T	8: 106,176,401 (GRCm39)	L258F	possibly damaging	Het
Ltbp4	T	A	7: 27,029,180 (GRCm39)	Q235L	unknown	Het
Maml2	A	G	9: 13,532,903 (GRCm39)	M706V		Het
Mc5r	G	T	18: 68,472,739 (GRCm39)	C366F	probably damaging	Het
Mlip	T	C	9: 77,072,124 (GRCm39)	R244G	probably benign	Het
Muc16	T	A	9: 18,496,309 (GRCm39)	R6658S	probably benign	Het
Mup4	G	T	4: 59,960,046 (GRCm39)	H73N	possibly damaging	Het
Nf1	A	G	11: 79,455,769 (GRCm39)	M565V	probably benign	Het
Nphp1	G	A	2: 127,603,137 (GRCm39)	T382I	possibly damaging	Het
Nrcam	C	T	12: 44,610,809 (GRCm39)	T503I	possibly damaging	Het
Nwd2	A	T	5: 63,957,752 (GRCm39)	N361Y	probably damaging	Het
Or10a3	A	T	7: 108,480,023 (GRCm39)	H263Q	probably damaging	Het
Or4f15	A	T	2: 111,813,672 (GRCm39)	L249*	probably null	Het
Or5ak23	A	T	2: 85,244,788 (GRCm39)	V145E	probably damaging	Het
Or6f1	A	G	7: 85,970,782 (GRCm39)	I126T	probably damaging	Het
Or7g21	A	G	9: 19,032,965 (GRCm39)	Y235C	probably benign	Het
Or8j3	A	G	2: 86,028,917 (GRCm39)	Y60H	probably damaging	Het
Or9a7	G	T	6: 40,521,829 (GRCm39)	A28E	probably damaging	Het
Orc5	A	G	5: 22,728,582 (GRCm39)	F308L	probably benign	Het
Padi1	T	A	4: 140,559,715 (GRCm39)	Y54F	probably benign	Het
Parp1	A	G	1: 180,396,665 (GRCm39)	K23E	possibly damaging	Het
Pate1	A	T	9: 35,597,268 (GRCm39)	V79D	possibly damaging	Het
Pcdh18	T	C	3: 49,711,309 (GRCm39)	H2R	probably benign	Het
Pcnx2	G	A	8: 126,613,822 (GRCm39)	S543F	probably damaging	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Pnkp	T	A	7: 44,509,158 (GRCm39)	F169L	probably damaging	Het
Ppp6r3	A	T	19: 3,557,325 (GRCm39)	N254K	probably damaging	Het
Psd	A	G	19: 46,312,893 (GRCm39)	L159P	probably benign	Het
Ptprf	A	G	4: 118,088,866 (GRCm39)	Y646H	probably damaging	Het
Rab3ip	A	T	10: 116,773,538 (GRCm39)	S92T	probably benign	Het
Rabgef1	A	G	5: 130,216,192 (GRCm39)		probably benign	Het
Ralgapa1	C	A	12: 55,755,789 (GRCm39)	W1129L	probably damaging	Het
Rhpn2	T	A	7: 35,084,888 (GRCm39)	L594Q	probably benign	Het
Rnf38	C	A	4: 44,158,989 (GRCm39)		probably benign	Het
Ryr2	T	A	13: 11,753,080 (GRCm39)	H1747L	possibly damaging	Het
Sec16a	A	G	2: 26,329,729 (GRCm39)	L13P	unknown	Het
Spef1l	A	T	7: 139,558,458 (GRCm39)		probably null	Het
Sppl3	C	A	5: 115,220,394 (GRCm39)	T102K	probably damaging	Het
Srgap2	A	T	1: 131,219,351 (GRCm39)	Y264*	probably null	Het
Sumf2	A	G	5: 129,891,551 (GRCm39)	K305R	probably benign	Het
Susd2	T	A	10: 75,478,399 (GRCm39)	Y59F	probably benign	Het
Taco1	T	C	11: 105,963,443 (GRCm39)	V198A	probably benign	Het
Tas2r136	A	T	6: 132,754,869 (GRCm39)	M86K	possibly damaging	Het
Tbc1d10c	T	C	19: 4,234,897 (GRCm39)	E388G	possibly damaging	Het
Tmem132c	C	T	5: 127,641,123 (GRCm39)	T1098I	possibly damaging	Het
Trim3	G	T	7: 105,267,007 (GRCm39)	Y457*	probably null	Het
Ttc38	A	G	15: 85,737,062 (GRCm39)	T316A	probably benign	Het
Ubqln4	T	A	3: 88,463,217 (GRCm39)	N127K	probably benign	Het
Wdr91	A	T	6: 34,881,561 (GRCm39)	F262Y	probably damaging	Het
Zdhhc6	A	T	19: 55,291,187 (GRCm39)	C343S	possibly damaging	Het
Zfp248	A	G	6: 118,407,170 (GRCm39)	C140R	probably damaging	Het
Zfp266	T	C	9: 20,413,391 (GRCm39)	T90A	probably benign	Het
Zfp407	A	T	18: 84,577,167 (GRCm39)	D1315E	possibly damaging	Het
Zfp644	T	C	5: 106,786,143 (GRCm39)	S135G	probably benign	Het
Zscan29	A	T	2: 120,991,469 (GRCm39)	I773N	probably damaging	Het
Zswim5	T	A	4: 116,838,031 (GRCm39)	V787E	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
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
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
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'- CTGAGCCATCTCACCAGCC -3'
(R):5'- TGCCAGGGGTATGCTGATAA -3'

Sequencing Primer
(F):5'- GTCTCAGTCTCTTACATCTCTGTG -3'
(R):5'- ATGAGGGATTTTCCACTAAGCC -3'

Posted On

2019-09-13