Incidental Mutation 'R4808:Snap25'
ID 370807
Institutional Source Beutler Lab
Gene Symbol Snap25
Ensembl Gene ENSMUSG00000027273
Gene Name synaptosomal-associated protein 25
Synonyms Bdr, sp, SNAP-25, GENA 70
MMRRC Submission 042427-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4808 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 136555373-136624348 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 136612022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 70 (D70G)
Ref Sequence ENSEMBL: ENSMUSP00000028727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028727] [ENSMUST00000110098]
AlphaFold P60879
Predicted Effect probably damaging
Transcript: ENSMUST00000028727
AA Change: D70G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028727
Gene: ENSMUSG00000027273
AA Change: D70G

DomainStartEndE-ValueType
t_SNARE 14 81 1.93e-12 SMART
t_SNARE 135 202 4.93e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110098
SMART Domains Protein: ENSMUSP00000105725
Gene: ENSMUSG00000027273

DomainStartEndE-ValueType
t_SNARE 14 81 9.51e-12 SMART
t_SNARE 135 202 4.93e-19 SMART
Meta Mutation Damage Score 0.7767 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 99% (71/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Synaptic vesicle membrane docking and fusion is mediated by SNAREs (soluble N-ethylmaleimide-sensitive factor attachment protein receptors) located on the vesicle membrane (v-SNAREs) and the target membrane (t-SNAREs). The assembled v-SNARE/t-SNARE complex consists of a bundle of four helices, one of which is supplied by v-SNARE and the other three by t-SNARE. For t-SNAREs on the plasma membrane, the protein syntaxin supplies one helix and the protein encoded by this gene contributes the other two. Therefore, this gene product is a presynaptic plasma membrane protein involved in the regulation of neurotransmitter release. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation are small size, blotchy in appearance, have dilated vascular channels, and brain defects, lack spontaneous or reflexive movement and evoked neurotransmitter release at E18.5, and die at birth. An ENU-induced mutant displays neurological abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,667,536 (GRCm39) F309S unknown Het
Abi3bp A G 16: 56,414,879 (GRCm39) D347G probably damaging Het
Adora2a A G 10: 75,169,280 (GRCm39) N248S probably damaging Het
Agap3 T C 5: 24,706,243 (GRCm39) F836L probably benign Het
Arap2 G A 5: 62,887,984 (GRCm39) T454M probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atm A G 9: 53,356,795 (GRCm39) S2819P probably damaging Het
Atp8b1 A G 18: 64,694,782 (GRCm39) F500S probably benign Het
Catsper1 G A 19: 5,394,164 (GRCm39) D682N possibly damaging Het
Chordc1 A G 9: 18,203,709 (GRCm39) Y6C probably damaging Het
Cped1 A G 6: 22,088,756 (GRCm39) K273R probably damaging Het
Crat T C 2: 30,300,033 (GRCm39) I116V probably benign Het
Cyp26a1 A G 19: 37,689,573 (GRCm39) H423R probably benign Het
Cyp4f40 A G 17: 32,893,249 (GRCm39) E360G probably benign Het
D430041D05Rik A C 2: 104,031,455 (GRCm39) probably null Het
Eif3i A T 4: 129,485,857 (GRCm39) F323I probably benign Het
Fam53a A G 5: 33,765,023 (GRCm39) S228P probably damaging Het
Gm10305 C T 4: 99,161,481 (GRCm39) noncoding transcript Het
Gm7347 C T 5: 26,259,995 (GRCm39) R185H probably benign Het
Golga2 G T 2: 32,193,226 (GRCm39) A441S probably benign Het
Gphn T A 12: 78,701,654 (GRCm39) S608T probably benign Het
Gramd1b A T 9: 40,215,645 (GRCm39) V620E possibly damaging Het
H2bc18 T G 3: 96,177,329 (GRCm39) S88A probably benign Het
H2-M9 T C 17: 36,951,684 (GRCm39) T264A probably damaging Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Hsd3b6 G A 3: 98,713,601 (GRCm39) H233Y probably damaging Het
Ighv6-7 T A 12: 114,419,341 (GRCm39) R88* probably null Het
Jup C T 11: 100,269,018 (GRCm39) R465H probably damaging Het
Kif16b A T 2: 142,699,278 (GRCm39) Y101N probably damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Mapkap1 G A 2: 34,487,434 (GRCm39) probably null Het
Myocos T C 1: 162,484,609 (GRCm39) probably benign Het
Nav1 C T 1: 135,382,942 (GRCm39) G1197S probably damaging Het
Oas1g T G 5: 121,017,385 (GRCm39) K223T possibly damaging Het
Oprd1 G A 4: 131,844,705 (GRCm39) T101M probably damaging Het
Or14c40 A G 7: 86,313,146 (GRCm39) D92G probably benign Het
Or51g2 T C 7: 102,623,118 (GRCm39) H27R probably damaging Het
Pcdha7 G A 18: 37,107,281 (GRCm39) C102Y probably damaging Het
Pcx T A 19: 4,670,956 (GRCm39) S1086T probably benign Het
Pde8a A G 7: 80,932,679 (GRCm39) T114A probably benign Het
Pias4 A G 10: 80,991,674 (GRCm39) probably null Het
Pkn3 G A 2: 29,980,093 (GRCm39) G750E probably damaging Het
Pramel5 G A 4: 143,999,325 (GRCm39) A254V probably benign Het
Ptprq A G 10: 107,554,368 (GRCm39) L119P probably damaging Het
Rasgrf2 A T 13: 92,160,190 (GRCm39) L395Q probably damaging Het
Rbm19 T C 5: 120,256,839 (GRCm39) S51P probably damaging Het
Rfx5 A G 3: 94,865,591 (GRCm39) T297A probably benign Het
Scaf1 T C 7: 44,658,063 (GRCm39) E272G probably damaging Het
Slc24a2 G T 4: 86,950,475 (GRCm39) Q396K probably benign Het
Slc39a14 T C 14: 70,553,250 (GRCm39) I162V probably damaging Het
Spata31d1b C T 13: 59,863,535 (GRCm39) P228S probably benign Het
Sppl3 T A 5: 115,221,485 (GRCm39) probably benign Het
Sspo A G 6: 48,428,095 (GRCm39) D314G probably damaging Het
Steap1 G T 5: 5,788,829 (GRCm39) probably benign Het
Suox T A 10: 128,507,758 (GRCm39) D90V possibly damaging Het
Sycp2 T C 2: 178,035,754 (GRCm39) probably benign Het
Tektl1 A T 10: 78,588,698 (GRCm39) D37E probably benign Het
Tln2 G T 9: 67,239,015 (GRCm39) T1087K probably benign Het
Uap1l1 A G 2: 25,252,097 (GRCm39) S473P probably damaging Het
Xpo5 T A 17: 46,546,896 (GRCm39) N882K probably benign Het
Zfp536 A T 7: 37,178,730 (GRCm39) C228S probably damaging Het
Other mutations in Snap25
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0281:Snap25 UTSW 2 136,619,384 (GRCm39) missense probably damaging 0.99
R1257:Snap25 UTSW 2 136,600,268 (GRCm39) missense probably damaging 1.00
R1547:Snap25 UTSW 2 136,619,389 (GRCm39) missense possibly damaging 0.86
R1880:Snap25 UTSW 2 136,619,305 (GRCm39) missense probably damaging 1.00
R2030:Snap25 UTSW 2 136,611,973 (GRCm39) intron probably benign
R6968:Snap25 UTSW 2 136,611,690 (GRCm39) missense probably benign 0.40
R8132:Snap25 UTSW 2 136,611,748 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GTACCAGCTCTAATCTGTGGC -3'
(R):5'- ATGCCACATGCTCATCCTG -3'

Sequencing Primer
(F):5'- AGCTCTAATCTGTGGCGTCCAG -3'
(R):5'- TGCCTATGAGCCTGCAGGAATG -3'
Posted On 2016-02-04