Incidental Mutation 'R7152:Stxbp2'
ID 554203
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 045254-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7152 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 3680955-3693644 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 3682583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 57 (S57R)
Ref Sequence ENSEMBL: ENSMUSP00000147220 (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

DomainStartEndE-ValueType
Pfam:Sec1 29 580 6.8e-113 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159888
Predicted Effect probably benign
Transcript: ENSMUST00000159911
AA Change: S57R

PolyPhen 2 Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably null
Transcript: ENSMUST00000160708
SMART Domains Protein: ENSMUSP00000125405
Gene: ENSMUSG00000004626

DomainStartEndE-ValueType
Pfam:Sec1 29 579 4.9e-112 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162867
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (53/53)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Btnl10 A G 11: 58,813,223 (GRCm39) N284S probably benign Het
Casz1 C G 4: 148,985,748 (GRCm39) probably benign Het
Cdkn2c A T 4: 109,522,235 (GRCm39) F37I probably damaging Het
Cdyl2 T C 8: 117,351,066 (GRCm39) K22E probably damaging Het
Cers1 T C 8: 70,770,901 (GRCm39) W104R probably damaging Het
Cgrrf1 T A 14: 47,090,934 (GRCm39) Y223* probably null Het
Cited2 C A 10: 17,600,134 (GRCm39) N147K probably benign Het
Clip2 A T 5: 134,525,095 (GRCm39) L904Q probably damaging Het
Cntln T C 4: 84,802,937 (GRCm39) V79A possibly damaging Het
Cntnap1 C T 11: 101,068,152 (GRCm39) R55W probably damaging Het
Cspg4b T C 13: 113,455,384 (GRCm39) F477L Het
Ctnna2 T A 6: 76,957,807 (GRCm39) T481S possibly damaging Het
Ddx17 T C 15: 79,414,464 (GRCm39) T570A possibly damaging Het
Epha7 A G 4: 28,935,826 (GRCm39) K483E possibly damaging Het
Eps8l2 A T 7: 140,935,678 (GRCm39) I150F possibly damaging Het
Esyt1 A G 10: 128,351,629 (GRCm39) S827P possibly damaging Het
Fbxl13 T A 5: 21,787,065 (GRCm39) I291F possibly damaging Het
Foxd3 A C 4: 99,545,562 (GRCm39) H234P probably benign Het
Ggta1 T A 2: 35,292,711 (GRCm39) M199L probably benign Het
H3c13 A G 3: 96,176,254 (GRCm39) D82G probably benign Het
Ighv5-15 T C 12: 113,790,317 (GRCm39) E101G probably benign Het
Igkv8-18 T C 6: 70,333,205 (GRCm39) L49P probably damaging Het
Itpr1 T C 6: 108,371,368 (GRCm39) probably null Het
Klhl36 C T 8: 120,596,953 (GRCm39) T218M probably benign Het
Ltn1 A G 16: 87,224,529 (GRCm39) F65S probably damaging Het
Marchf3 A G 18: 56,909,053 (GRCm39) V244A probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Ndst3 T A 3: 123,346,305 (GRCm39) I642F possibly damaging Het
Neb T C 2: 52,153,557 (GRCm39) D2456G probably damaging Het
Nphp1 A G 2: 127,595,899 (GRCm39) M522T probably benign Het
Or51k1 T A 7: 103,661,226 (GRCm39) M228L probably benign Het
Or8k33 C T 2: 86,383,673 (GRCm39) S265N probably benign Het
Pam T A 1: 97,813,465 (GRCm39) M322L probably damaging Het
Pcdhgb1 C A 18: 37,814,854 (GRCm39) H448Q probably benign Het
Pcnt T C 10: 76,247,194 (GRCm39) probably null Het
Pgm3 A T 9: 86,449,593 (GRCm39) D142E probably benign Het
Pomgnt2 C T 9: 121,812,589 (GRCm39) G64D probably damaging Het
Sds A T 5: 120,619,716 (GRCm39) probably null Het
Sirpb1b G T 3: 15,607,230 (GRCm39) Q351K probably benign Het
Slc2a12 T A 10: 22,541,453 (GRCm39) M436K probably benign Het
Slc9a5 G A 8: 106,095,025 (GRCm39) G872D probably benign Het
Sult2a6 T A 7: 13,956,445 (GRCm39) D272V probably benign Het
Supt5 A G 7: 28,023,325 (GRCm39) M318T probably benign Het
Tdpoz3 T C 3: 93,733,772 (GRCm39) V149A probably damaging Het
Tead2 T A 7: 44,869,871 (GRCm39) S124T possibly damaging Het
Tssc4 T A 7: 142,624,139 (GRCm39) V149D probably damaging Het
Ttn C T 2: 76,683,505 (GRCm39) A906T Het
Uspl1 A G 5: 149,124,588 (GRCm39) T2A possibly damaging Het
Vmn1r124 G A 7: 20,994,184 (GRCm39) P120L probably benign Het
Vmn1r37 T C 6: 66,708,883 (GRCm39) Y170H probably benign Het
Vnn3 T A 10: 23,727,513 (GRCm39) V11E possibly damaging Het
Zbtb7b C T 3: 89,288,209 (GRCm39) R203H probably benign Het
Zfhx3 T C 8: 109,674,839 (GRCm39) V1963A possibly damaging Het
Zfp324 C A 7: 12,700,198 (GRCm39) A19E probably benign Het
Zfyve26 T C 12: 79,325,888 (GRCm39) S784G probably benign Het
Other mutations in Stxbp2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TTTGGGTAGATGGATGCCCC -3'
(R):5'- TATATTCTCTGCTCAGGAGGTTGAG -3'

Sequencing Primer
(F):5'- GATGCCCCACTGCCTCTG -3'
(R):5'- AGTTGGTTACAGTCAGTGAGGC -3'
Posted On 2019-05-15