Incidental Mutation 'R1844:Snap23'
ID 207515
Institutional Source Beutler Lab
Gene Symbol Snap23
Ensembl Gene ENSMUSG00000027287
Gene Name synaptosomal-associated protein 23
Synonyms Syndet, SNAP-23, Sndt
MMRRC Submission 039869-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1844 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 120398152-120431736 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120421163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 96 (F96L)
Ref Sequence ENSEMBL: ENSMUSP00000112138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028743] [ENSMUST00000110711] [ENSMUST00000116437] [ENSMUST00000142278] [ENSMUST00000153580] [ENSMUST00000150611]
AlphaFold O09044
Predicted Effect probably benign
Transcript: ENSMUST00000028743
SMART Domains Protein: ENSMUSP00000028743
Gene: ENSMUSG00000027287

DomainStartEndE-ValueType
t_SNARE 9 76 3.44e-9 SMART
t_SNARE 140 207 1.89e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110711
SMART Domains Protein: ENSMUSP00000106339
Gene: ENSMUSG00000027287

DomainStartEndE-ValueType
t_SNARE 9 76 3.44e-9 SMART
t_SNARE 140 207 1.89e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116437
AA Change: F96L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112138
Gene: ENSMUSG00000027287
AA Change: F96L

DomainStartEndE-ValueType
t_SNARE 9 76 3.44e-9 SMART
t_SNARE 151 218 1.89e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130759
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137144
Predicted Effect probably benign
Transcript: ENSMUST00000142278
SMART Domains Protein: ENSMUSP00000116935
Gene: ENSMUSG00000027287

DomainStartEndE-ValueType
t_SNARE 9 76 3.44e-9 SMART
Pfam:SNAP-25 86 146 6.8e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153580
SMART Domains Protein: ENSMUSP00000121509
Gene: ENSMUSG00000027287

DomainStartEndE-ValueType
t_SNARE 9 76 3.44e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150611
SMART Domains Protein: ENSMUSP00000119652
Gene: ENSMUSG00000027287

DomainStartEndE-ValueType
t_SNARE 9 76 3.44e-9 SMART
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Specificity of vesicular transport is regulated, in part, by the interaction of a vesicle-associated membrane protein termed synaptobrevin/VAMP with a target compartment membrane protein termed syntaxin. These proteins, together with SNAP25 (synaptosome-associated protein of 25 kDa), form a complex which serves as a binding site for the general membrane fusion machinery. Synaptobrevin/VAMP and syntaxin are believed to be involved in vesicular transport in most, if not all cells, while SNAP25 is present almost exclusively in the brain, suggesting that a ubiquitously expressed homolog of SNAP25 exists to facilitate transport vesicle/target membrane fusion in other tissues. The protein encoded by this gene is structurally and functionally similar to SNAP25 and binds tightly to multiple syntaxins and synaptobrevins/VAMPs. It is an essential component of the high affinity receptor for the general membrane fusion machinery and is an important regulator of transport vesicle docking and fusion. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality prior to E3.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 A G 4: 40,197,566 (GRCm39) K857E probably benign Het
Adam20 A G 8: 41,249,080 (GRCm39) N397D probably benign Het
Adgrf3 T G 5: 30,404,211 (GRCm39) D347A probably damaging Het
Ang6 C T 14: 44,239,330 (GRCm39) E133K possibly damaging Het
Arhgap23 T A 11: 97,354,234 (GRCm39) W205R probably damaging Het
Arhgef40 C A 14: 52,235,080 (GRCm39) R1086S probably damaging Het
Atr G T 9: 95,787,870 (GRCm39) A1488S probably benign Het
Cabin1 A T 10: 75,579,184 (GRCm39) probably null Het
Cby2 C T 14: 75,820,850 (GRCm39) V292I probably benign Het
Cdh22 A C 2: 164,985,614 (GRCm39) F324C probably damaging Het
Cep350 T C 1: 155,724,374 (GRCm39) I3075V probably damaging Het
Chd9 A T 8: 91,683,323 (GRCm39) K588* probably null Het
Clns1a A T 7: 97,346,066 (GRCm39) I44F probably damaging Het
Colgalt1 T C 8: 72,063,995 (GRCm39) I51T possibly damaging Het
Cpt2 C T 4: 107,761,452 (GRCm39) E217K possibly damaging Het
Ctss A G 3: 95,454,105 (GRCm39) probably null Het
Cyp1a1 A G 9: 57,609,980 (GRCm39) T465A probably benign Het
Dbn1 A G 13: 55,629,160 (GRCm39) probably null Het
Dennd1b A G 1: 139,018,143 (GRCm39) probably null Het
Dnajc1 A C 2: 18,298,838 (GRCm39) Y49* probably null Het
Dock10 T A 1: 80,520,918 (GRCm39) I1188L probably damaging Het
Dsg1c T G 18: 20,416,096 (GRCm39) probably null Het
Efcab6 G A 15: 83,851,822 (GRCm39) T352I possibly damaging Het
Eps8l3 T C 3: 107,786,902 (GRCm39) L26P possibly damaging Het
Fbxw26 A G 9: 109,553,946 (GRCm39) V231A probably benign Het
Fetub G A 16: 22,754,419 (GRCm39) E209K possibly damaging Het
Galc A T 12: 98,212,556 (GRCm39) probably null Het
Gm6871 A T 7: 41,222,892 (GRCm39) N65K probably benign Het
Gstp3 A G 19: 4,107,540 (GRCm39) I208T probably benign Het
Gtpbp3 A G 8: 71,945,272 (GRCm39) Y448C probably benign Het
Hdac7 G T 15: 97,705,857 (GRCm39) Q385K probably damaging Het
Hemgn C T 4: 46,396,655 (GRCm39) V194M possibly damaging Het
Idh2 G C 7: 79,748,625 (GRCm39) T113R probably benign Het
Jarid2 A C 13: 45,056,219 (GRCm39) K336T possibly damaging Het
Kcnj4 C T 15: 79,369,216 (GRCm39) V255M probably damaging Het
Ldhb C A 6: 142,439,934 (GRCm39) W202L probably damaging Het
Lmbrd2 T A 15: 9,177,838 (GRCm39) Y512* probably null Het
Lrp1 A G 10: 127,431,152 (GRCm39) probably null Het
Map3k12 G A 15: 102,411,970 (GRCm39) P365S probably damaging Het
Map3k5 G A 10: 19,979,909 (GRCm39) D806N probably benign Het
Matn3 A G 12: 9,017,662 (GRCm39) E438G possibly damaging Het
Mcmbp G A 7: 128,325,698 (GRCm39) L97F probably damaging Het
Mmp3 A T 9: 7,453,662 (GRCm39) I428L probably benign Het
Mphosph8 T C 14: 56,934,616 (GRCm39) V855A probably damaging Het
Mycbp2 T A 14: 103,393,150 (GRCm39) H3027L possibly damaging Het
Nbea C T 3: 55,989,857 (GRCm39) R333H probably damaging Het
Notch1 G T 2: 26,350,446 (GRCm39) H2231Q probably benign Het
Npas2 A T 1: 39,364,456 (GRCm39) H266L probably damaging Het
Oas3 A G 5: 120,898,045 (GRCm39) S833P probably damaging Het
Or1j15 T C 2: 36,458,789 (GRCm39) Y60H probably damaging Het
Or5ak24 T C 2: 85,260,265 (GRCm39) T303A probably benign Het
Or5w17 A C 2: 87,584,334 (GRCm39) M1R probably null Het
Or6c65 G A 10: 129,603,725 (GRCm39) R120H probably benign Het
Pak4 C T 7: 28,264,690 (GRCm39) V71I possibly damaging Het
Pitpnm1 T C 19: 4,162,395 (GRCm39) V1075A probably damaging Het
Pkp3 G A 7: 140,668,415 (GRCm39) V555M probably damaging Het
Plekhm2 T C 4: 141,359,685 (GRCm39) T381A probably benign Het
Plppr3 A G 10: 79,702,244 (GRCm39) probably null Het
Ppp2r5e A T 12: 75,516,540 (GRCm39) F216I possibly damaging Het
Ppp3ca T A 3: 136,627,672 (GRCm39) V412D probably benign Het
Prss50 A G 9: 110,687,081 (GRCm39) probably benign Het
Psph A C 5: 129,843,532 (GRCm39) I174R probably damaging Het
Ptov1 A G 7: 44,514,991 (GRCm39) Y207H possibly damaging Het
Ptprs A G 17: 56,741,510 (GRCm39) S585P probably damaging Het
Rnf146 A T 10: 29,223,720 (GRCm39) H55Q probably damaging Het
Rnf213 T A 11: 119,332,009 (GRCm39) M2407K probably damaging Het
Rnls A C 19: 33,179,931 (GRCm39) L55R possibly damaging Het
Rptor T C 11: 119,647,146 (GRCm39) C246R probably damaging Het
Rrp12 C T 19: 41,866,222 (GRCm39) probably null Het
Samd3 A G 10: 26,127,672 (GRCm39) D223G probably damaging Het
Sdad1 G A 5: 92,453,155 (GRCm39) Q68* probably null Het
Selenov G A 7: 27,989,847 (GRCm39) T219M probably damaging Het
Shd A G 17: 56,278,554 (GRCm39) D39G possibly damaging Het
Slc26a10 A T 10: 127,014,279 (GRCm39) V245E probably damaging Het
Slit1 A G 19: 41,614,012 (GRCm39) L820P probably damaging Het
Speer1k T C 5: 10,998,994 (GRCm39) probably benign Het
Spef1l A T 7: 139,556,005 (GRCm39) I212N probably benign Het
Stkld1 A G 2: 26,840,115 (GRCm39) H395R probably damaging Het
Syt13 G A 2: 92,771,165 (GRCm39) G84D probably damaging Het
Terb2 T A 2: 122,016,990 (GRCm39) L37Q probably damaging Het
Themis A G 10: 28,657,753 (GRCm39) Y107C probably damaging Het
Top2a T A 11: 98,906,895 (GRCm39) T249S probably benign Het
Tspo2 A T 17: 48,756,148 (GRCm39) F71Y probably damaging Het
Ttc21b T A 2: 66,053,921 (GRCm39) K753* probably null Het
Ttk A G 9: 83,736,915 (GRCm39) Y458C possibly damaging Het
Ttn T C 2: 76,586,017 (GRCm39) R21905G probably damaging Het
Ugt3a1 T A 15: 9,351,254 (GRCm39) F88I probably benign Het
Vmn1r119 A G 7: 20,746,121 (GRCm39) L87P probably damaging Het
Vmn1r36 A G 6: 66,693,747 (GRCm39) F6L probably benign Het
Vmn2r15 T A 5: 109,434,860 (GRCm39) K615* probably null Het
Wdr18 G A 10: 79,802,561 (GRCm39) probably null Het
Wdr6 A T 9: 108,453,176 (GRCm39) W236R probably damaging Het
Zbtb48 T C 4: 152,110,955 (GRCm39) T187A probably benign Het
Other mutations in Snap23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02146:Snap23 APN 2 120,429,792 (GRCm39) missense probably damaging 1.00
IGL02804:Snap23 APN 2 120,416,637 (GRCm39) splice site probably benign
R2268:Snap23 UTSW 2 120,429,793 (GRCm39) missense probably benign
R3755:Snap23 UTSW 2 120,416,726 (GRCm39) missense probably damaging 1.00
R3904:Snap23 UTSW 2 120,429,815 (GRCm39) missense possibly damaging 0.50
R4089:Snap23 UTSW 2 120,414,856 (GRCm39) splice site probably benign
R4090:Snap23 UTSW 2 120,416,061 (GRCm39) missense probably benign 0.00
R4112:Snap23 UTSW 2 120,414,856 (GRCm39) splice site probably benign
R5509:Snap23 UTSW 2 120,425,346 (GRCm39) missense probably benign 0.05
R5726:Snap23 UTSW 2 120,414,752 (GRCm39) splice site probably benign
R8990:Snap23 UTSW 2 120,415,516 (GRCm39) intron probably benign
R9266:Snap23 UTSW 2 120,414,781 (GRCm39) start gained probably benign
Z1177:Snap23 UTSW 2 120,425,331 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- TGTGATCATACTCAGGGCCTG -3'
(R):5'- ATCCCTTTGATCAGCTACTGAG -3'

Sequencing Primer
(F):5'- CTCGAACACCAAGGAGGGCTG -3'
(R):5'- AGCCCGGCTTGGATGTTAGATC -3'
Posted On 2014-06-23