Incidental Mutation 'R1257:Snap25'
ID 151486
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 039324-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1257 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 136555373-136624348 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 136600268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 37 (E37V)
Ref Sequence ENSEMBL: ENSMUSP00000105725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028727] [ENSMUST00000110098]
AlphaFold P60879
Predicted Effect probably damaging
Transcript: ENSMUST00000028727
AA Change: E37V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000028727
Gene: ENSMUSG00000027273
AA Change: E37V

DomainStartEndE-ValueType
t_SNARE 14 81 1.93e-12 SMART
t_SNARE 135 202 4.93e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110098
AA Change: E37V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105725
Gene: ENSMUSG00000027273
AA Change: E37V

DomainStartEndE-ValueType
t_SNARE 14 81 9.51e-12 SMART
t_SNARE 135 202 4.93e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125486
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.7%
Validation Efficiency
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl A T 2: 127,886,286 (GRCm39) T174S probably benign Het
Ank3 C T 10: 69,710,665 (GRCm39) R408* probably null Het
Ceacam15 A G 7: 16,405,949 (GRCm39) S201P possibly damaging Het
Ceacam20 A G 7: 19,708,117 (GRCm39) I241V probably benign Het
Cfap46 A T 7: 139,234,545 (GRCm39) L237* probably null Het
Col4a3 T A 1: 82,694,086 (GRCm39) C133S probably damaging Het
Dnajc9 G A 14: 20,438,765 (GRCm39) probably null Het
Dnhd1 T A 7: 105,343,360 (GRCm39) V1568D probably damaging Het
Gli3 C T 13: 15,900,581 (GRCm39) Q1323* probably null Het
Grhpr A G 4: 44,989,045 (GRCm39) N287S probably damaging Het
H2bl1 A T 13: 99,121,023 (GRCm39) M1K probably null Het
Hectd4 G A 5: 121,456,687 (GRCm39) W684* probably null Het
Kifc3 A G 8: 95,832,400 (GRCm39) V474A probably damaging Het
Lrrc37 A G 11: 103,425,467 (GRCm39) V1462A unknown Het
Mdn1 A T 4: 32,667,089 (GRCm39) probably null Het
Med7 C G 11: 46,331,460 (GRCm39) I18M probably damaging Het
Nid1 T C 13: 13,658,375 (GRCm39) Y707H probably benign Het
Nol4 A T 18: 22,903,738 (GRCm39) N339K probably damaging Het
Or6c209 A T 10: 129,483,413 (GRCm39) K139* probably null Het
Rbm34 C T 8: 127,697,643 (GRCm39) G23S possibly damaging Het
Rps19bp1 CCTTCTTCTTCTTCTTCTTCTT CCTTCTTCTTCTTCTTCTT 15: 80,145,250 (GRCm39) probably benign Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Taf1a A G 1: 183,179,175 (GRCm39) T118A possibly damaging Het
Tasor2 T C 13: 3,625,049 (GRCm39) T1634A probably benign Het
Thrb T A 14: 18,008,642 (GRCm38) I122K probably damaging Het
Xkr4 T G 1: 3,287,036 (GRCm39) I385L probably benign Het
Zeb1 G T 18: 5,772,699 (GRCm39) R996L possibly damaging Het
Other mutations in Snap25
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0281:Snap25 UTSW 2 136,619,384 (GRCm39) missense probably damaging 0.99
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
R4808:Snap25 UTSW 2 136,612,022 (GRCm39) missense probably damaging 1.00
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'- TGATTTTCTTCACCCTAAGGCAACAGC -3'
(R):5'- GGGATGAACGGCAGTGAATACCTC -3'

Sequencing Primer
(F):5'- GTCCAGGAAAGATGAAGTATCTCTC -3'
(R):5'- GCAGTGAATACCTCTTGATAATTAGC -3'
Posted On 2014-01-29