Incidental Mutation 'R1880:Snap25'
ID 209020
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 039901-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1880 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 136555373-136624348 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 136619305 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 153 (V153M)
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: V153M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028727
Gene: ENSMUSG00000027273
AA Change: V153M

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: V153M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105725
Gene: ENSMUSG00000027273
AA Change: V153M

DomainStartEndE-ValueType
t_SNARE 14 81 9.51e-12 SMART
t_SNARE 135 202 4.93e-19 SMART
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 93.2%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn A G 17: 14,072,615 (GRCm39) D846G possibly damaging Het
Arhgef5 C A 6: 43,250,022 (GRCm39) Q258K possibly damaging Het
Atp10b G T 11: 43,150,259 (GRCm39) G1319V probably damaging Het
Axl T C 7: 25,473,973 (GRCm39) T315A probably damaging Het
Brd10 C A 19: 29,695,523 (GRCm39) L1323F probably benign Het
Btnl2 A G 17: 34,584,337 (GRCm39) E420G possibly damaging Het
Capn2 A G 1: 182,316,581 (GRCm39) W293R probably damaging Het
Cd209f A G 8: 4,155,464 (GRCm39) probably null Het
Cltc A G 11: 86,603,457 (GRCm39) Y790H probably damaging Het
Col1a1 A G 11: 94,841,394 (GRCm39) K1259R unknown Het
Dpysl3 A T 18: 43,462,939 (GRCm39) probably null Het
Dus4l T C 12: 31,690,869 (GRCm39) I261V probably benign Het
Ell3 T C 2: 121,270,792 (GRCm39) D247G probably benign Het
Erg G A 16: 95,178,168 (GRCm39) T246I probably benign Het
Eva1c T C 16: 90,694,303 (GRCm39) I196T possibly damaging Het
Fbxo43 T C 15: 36,162,661 (GRCm39) D182G probably benign Het
Frrs1 T C 3: 116,690,444 (GRCm39) probably null Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Gata4 G T 14: 63,442,144 (GRCm39) P20Q probably damaging Het
Gmnc T C 16: 26,784,361 (GRCm39) D48G probably damaging Het
Gtf2h3 C T 5: 124,722,336 (GRCm39) A113V probably benign Het
Habp2 A G 19: 56,306,260 (GRCm39) I481V possibly damaging Het
Hmcn1 C T 1: 150,514,651 (GRCm39) V3574M probably benign Het
Hnrnpul1 A G 7: 25,432,523 (GRCm39) V380A possibly damaging Het
Hspa2 G A 12: 76,452,694 (GRCm39) D463N possibly damaging Het
Itga11 A G 9: 62,585,231 (GRCm39) D2G probably benign Het
Kel G A 6: 41,664,479 (GRCm39) L653F possibly damaging Het
Lgr5 T C 10: 115,288,184 (GRCm39) Y748C probably damaging Het
Lpxn A G 19: 12,781,452 (GRCm39) K57E probably benign Het
Ltbp2 G T 12: 84,876,045 (GRCm39) H501N probably benign Het
Macf1 G A 4: 123,332,384 (GRCm39) A2419V probably damaging Het
Map3k12 A G 15: 102,410,499 (GRCm39) probably null Het
Megf8 G A 7: 25,034,285 (GRCm39) V668I possibly damaging Het
Mmp10 T C 9: 7,505,575 (GRCm39) S280P probably benign Het
Neb C A 2: 52,148,743 (GRCm39) M2601I probably damaging Het
Nsd1 T A 13: 55,361,606 (GRCm39) N191K probably damaging Het
Or2w1 A T 13: 21,317,802 (GRCm39) N286Y probably damaging Het
Or5e1 T C 7: 108,354,335 (GRCm39) S91P probably damaging Het
Or5w14 C A 2: 87,541,639 (GRCm39) G204C probably damaging Het
Or6c214 A G 10: 129,591,290 (GRCm39) F10L probably benign Het
Patj C T 4: 98,385,477 (GRCm39) P364S probably benign Het
Pex1 T C 5: 3,655,770 (GRCm39) V39A probably benign Het
Pira13 C T 7: 3,827,950 (GRCm39) probably null Het
Pkhd1l1 A T 15: 44,388,638 (GRCm39) I1332F probably benign Het
Polq T C 16: 36,906,954 (GRCm39) V2026A possibly damaging Het
Pomt2 G T 12: 87,182,370 (GRCm39) A219D probably damaging Het
Ppp4r4 T A 12: 103,571,294 (GRCm39) Y678N possibly damaging Het
Rpf2 T C 10: 40,109,154 (GRCm39) D95G possibly damaging Het
Sema3c A T 5: 17,932,464 (GRCm39) K656* probably null Het
Sema4b A T 7: 79,866,540 (GRCm39) S207C probably damaging Het
Snrnp70 T C 7: 45,026,786 (GRCm39) probably null Het
Tas2r144 C T 6: 42,193,004 (GRCm39) T248I probably benign Het
Trpv4 C T 5: 114,761,687 (GRCm39) V814M probably benign Het
Usp38 T C 8: 81,727,695 (GRCm39) E346G probably damaging Het
Vmn1r192 G T 13: 22,371,764 (GRCm39) A152E probably benign Het
Vmn1r91 A T 7: 19,835,698 (GRCm39) S206C probably damaging Het
Vps36 T C 8: 22,703,578 (GRCm39) probably null Het
Wdfy3 T C 5: 102,065,301 (GRCm39) N1289S probably benign Het
Zfp759 T C 13: 67,287,276 (GRCm39) C276R probably damaging Het
Zkscan17 G A 11: 59,378,455 (GRCm39) Q243* probably null 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
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'- CTACACTTTGAGCTCAAAACATCAG -3'
(R):5'- GCAAAGTATCCAGCAACTACTG -3'

Sequencing Primer
(F):5'- TTGTTAAAACATGTTGGCGTATTG -3'
(R):5'- CAGCAACTACTGATTGCGTG -3'
Posted On 2014-06-30