Incidental Mutation 'R9018:Stxbp2'
ID 713521
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 068848-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9018 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 3680955-3693644 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 3692627 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160708]
AlphaFold Q64324
Predicted Effect probably benign
Transcript: ENSMUST00000004745
SMART Domains Protein: ENSMUSP00000004745
Gene: ENSMUSG00000004626

DomainStartEndE-ValueType
Pfam:Sec1 29 580 6.8e-113 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159370
Predicted Effect probably benign
Transcript: ENSMUST00000160708
SMART Domains Protein: ENSMUSP00000125405
Gene: ENSMUSG00000004626

DomainStartEndE-ValueType
Pfam:Sec1 29 579 4.9e-112 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (77/77)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,918,532 (GRCm39) E1552G probably damaging Het
Abca14 A T 7: 119,888,763 (GRCm39) K1236N probably benign Het
Adam3 A T 8: 25,184,292 (GRCm39) Y569* probably null Het
Adgrb2 A G 4: 129,907,659 (GRCm39) T998A probably benign Het
Adgre4 T A 17: 56,098,993 (GRCm39) H166Q probably benign Het
Ank1 G A 8: 23,606,264 (GRCm39) G1219S probably null Het
Ankrd11 A G 8: 123,622,251 (GRCm39) S534P probably damaging Het
Atn1 C T 6: 124,722,661 (GRCm39) E805K unknown Het
Bsn T C 9: 107,994,488 (GRCm39) T596A probably benign Het
Cacnb4 C T 2: 52,324,706 (GRCm39) R452Q probably benign Het
Cdc123 C A 2: 5,849,683 (GRCm39) A13S probably benign Het
Chd7 G A 4: 8,847,083 (GRCm39) G1609S possibly damaging Het
Cp T A 3: 20,043,316 (GRCm39) C1035S probably damaging Het
Dcaf1 T A 9: 106,742,836 (GRCm39) C1383S probably damaging Het
Derl3 G A 10: 75,729,604 (GRCm39) V54I probably benign Het
Dgcr6 T C 16: 17,884,607 (GRCm39) L25P probably damaging Het
Dmrt2 A G 19: 25,650,985 (GRCm39) E57G probably benign Het
Dnaaf11 A T 15: 66,321,479 (GRCm39) S221T probably benign Het
Dst A G 1: 34,235,140 (GRCm39) K3562E probably damaging Het
Dyrk2 T C 10: 118,696,014 (GRCm39) T415A probably damaging Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Fbln1 T C 15: 85,126,215 (GRCm39) I484T probably damaging Het
Greb1l T A 18: 10,542,004 (GRCm39) D1250E possibly damaging Het
Ift88 A C 14: 57,675,702 (GRCm39) K72Q probably benign Het
Impg1 T A 9: 80,301,474 (GRCm39) I228F probably benign Het
Itsn2 A G 12: 4,708,091 (GRCm39) N799S possibly damaging Het
Jade1 T A 3: 41,564,292 (GRCm39) C521S probably benign Het
Katna1 T G 10: 7,637,040 (GRCm39) L397R probably damaging Het
Kcnj15 A C 16: 95,097,129 (GRCm39) K250N probably damaging Het
Macc1 A G 12: 119,409,941 (GRCm39) I236M possibly damaging Het
Mapk13 C T 17: 28,996,760 (GRCm39) R276C probably benign Het
Mier2 G A 10: 79,384,274 (GRCm39) R166W probably damaging Het
Mindy4 C T 6: 55,278,072 (GRCm39) H639Y possibly damaging Het
Mphosph9 A G 5: 124,436,713 (GRCm39) S544P probably benign Het
Muc4 T C 16: 32,582,910 (GRCm39) Y492H Het
Mybbp1a C T 11: 72,334,420 (GRCm39) T225I probably benign Het
Myo6 A T 9: 80,159,086 (GRCm39) K285I unknown Het
Nmd3 G A 3: 69,647,328 (GRCm39) V277I probably benign Het
Nol9 G C 4: 152,123,918 (GRCm39) R36P probably damaging Het
Nom1 A G 5: 29,639,712 (GRCm39) R13G possibly damaging Het
Nudt14 G A 12: 112,902,906 (GRCm39) H40Y probably damaging Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Or1x6 G A 11: 50,938,938 (GRCm39) M1I probably null Het
Or5b118 A T 19: 13,448,721 (GRCm39) H87L possibly damaging Het
Or8d1b T A 9: 38,887,687 (GRCm39) F238L probably benign Het
Pcnx4 T A 12: 72,603,437 (GRCm39) F492I probably damaging Het
Pex19 GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC 1: 171,956,150 (GRCm39) probably null Het
Pgghg A G 7: 140,524,579 (GRCm39) I309V probably benign Het
Phf12 C T 11: 77,914,510 (GRCm39) P651S possibly damaging Het
Pltp A G 2: 164,694,410 (GRCm39) L199P probably damaging Het
Pole T A 5: 110,437,675 (GRCm39) L78I probably benign Het
Ppm1d C A 11: 85,227,961 (GRCm39) H292Q probably damaging Het
Ppp2cb A C 8: 34,105,787 (GRCm39) I224L probably benign Het
Rabggta A T 14: 55,957,880 (GRCm39) I171N probably damaging Het
Rapgef5 A G 12: 117,712,132 (GRCm39) I740V probably damaging Het
Rb1cc1 G A 1: 6,319,490 (GRCm39) E970K probably benign Het
Rnh1 A T 7: 140,748,544 (GRCm39) V11D probably benign Het
Robo4 C T 9: 37,315,520 (GRCm39) T288I probably benign Het
Scmh1 A G 4: 120,362,514 (GRCm39) D250G probably benign Het
Sele T A 1: 163,881,248 (GRCm39) C483S probably damaging Het
Slc12a6 A G 2: 112,174,585 (GRCm39) probably benign Het
Slc5a4a A G 10: 76,002,546 (GRCm39) E234G possibly damaging Het
Smarca5 A G 8: 81,431,355 (GRCm39) L954P probably damaging Het
St7 T A 6: 17,906,494 (GRCm39) N413K probably damaging Het
Stam2 C T 2: 52,606,463 (GRCm39) V141I probably benign Het
Stim1 C T 7: 102,060,482 (GRCm39) T175I probably benign Het
Strap A G 6: 137,716,811 (GRCm39) N130S probably benign Het
Sult3a2 T A 10: 33,655,689 (GRCm39) I97F probably benign Het
Tbc1d32 A T 10: 55,948,693 (GRCm39) N965K probably benign Het
Tle3 T A 9: 61,319,750 (GRCm39) I506N probably damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tvp23a A G 16: 10,264,846 (GRCm39) S22P probably damaging Het
Vmn2r82 A G 10: 79,232,539 (GRCm39) N846S probably damaging Het
Vmn2r83 A G 10: 79,316,020 (GRCm39) N472S probably damaging Het
Xpo7 G A 14: 70,944,864 (GRCm39) Q10* probably null Het
Zfp423 G C 8: 88,508,381 (GRCm39) S654R probably benign Het
Zfp646 A T 7: 127,478,243 (GRCm39) H140L probably benign Het
Zfp719 C A 7: 43,233,489 (GRCm39) 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
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
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'- CTGGGGACTTTGAAAGGCTG -3'
(R):5'- TCAATACAGCTCCCTCTGGG -3'

Sequencing Primer
(F):5'- ACTTTGAAAGGCTGGGGCTG -3'
(R):5'- AATGAGGTGAGCCCTGGTG -3'
Posted On 2022-06-06