Incidental Mutation 'R2030:Snap25'
ID 221100
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 040037-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2030 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 136555373-136624348 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to G at 136611973 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028727] [ENSMUST00000110098]
AlphaFold P60879
Predicted Effect probably benign
Transcript: ENSMUST00000028727
SMART Domains Protein: ENSMUSP00000028727
Gene: ENSMUSG00000027273

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 100% (54/54)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adtrp C T 13: 41,981,735 (GRCm39) V13I probably damaging Het
Ak2 A G 4: 128,902,013 (GRCm39) K229E probably benign Het
Atp13a4 A T 16: 29,241,502 (GRCm39) V741D probably damaging Het
Bdp1 A T 13: 100,197,697 (GRCm39) M896K probably benign Het
Ccser1 C T 6: 61,288,547 (GRCm39) R237C probably benign Het
Cdk7 A G 13: 100,859,182 (GRCm39) probably benign Het
CK137956 A G 4: 127,845,180 (GRCm39) S188P probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dbndd2 A G 2: 164,330,563 (GRCm39) D72G probably damaging Het
Disp3 A T 4: 148,344,423 (GRCm39) I493N probably damaging Het
Dnaaf10 A T 11: 17,179,832 (GRCm39) T278S probably benign Het
Epx T C 11: 87,755,650 (GRCm39) D678G probably damaging Het
Fbxw5 G T 2: 25,394,810 (GRCm39) V235L probably damaging Het
Fmo4 T A 1: 162,621,741 (GRCm39) D490V probably damaging Het
Fuca2 A G 10: 13,382,518 (GRCm39) Y268C probably damaging Het
Gm4787 C T 12: 81,425,544 (GRCm39) V205I probably damaging Het
Gpat3 G A 5: 101,045,687 (GRCm39) R437K probably benign Het
Herc2 A G 7: 55,834,121 (GRCm39) S3109G probably damaging Het
Hr G A 14: 70,808,888 (GRCm39) R1117H probably damaging Het
Htra4 T A 8: 25,523,593 (GRCm39) D324V probably damaging Het
Kcnd3 A G 3: 105,366,853 (GRCm39) Y241C probably damaging Het
Kcp G A 6: 29,489,071 (GRCm39) L1072F probably damaging Het
Lrrc52 T C 1: 167,294,028 (GRCm39) N86D probably benign Het
Mindy4 A G 6: 55,188,247 (GRCm39) T26A probably damaging Het
Mre11a A T 9: 14,707,101 (GRCm39) N117Y probably damaging Het
Mrgprb1 A T 7: 48,097,076 (GRCm39) S279T possibly damaging Het
Myh13 T G 11: 67,241,064 (GRCm39) S814A probably benign Het
Ncapd2 A G 6: 125,153,678 (GRCm39) V679A possibly damaging Het
Nipbl A T 15: 8,379,771 (GRCm39) V1007D probably damaging Het
Nlrp12 T A 7: 3,277,049 (GRCm39) H960L probably damaging Het
Or3a1c T A 11: 74,046,769 (GRCm39) M263K possibly damaging Het
Or4a72 C T 2: 89,405,558 (GRCm39) V171I probably benign Het
Or7e169 A G 9: 19,757,709 (GRCm39) S69P probably benign Het
Pklr A G 3: 89,050,545 (GRCm39) Y402C probably damaging Het
Prdm2 T C 4: 142,859,334 (GRCm39) T1319A possibly damaging Het
Rif1 T A 2: 51,982,358 (GRCm39) V541E probably damaging Het
Ryk T A 9: 102,758,855 (GRCm39) I248N possibly damaging Het
Shisa2 A T 14: 59,867,134 (GRCm39) I129F probably damaging Het
Snx31 G A 15: 36,525,848 (GRCm39) P284S probably benign Het
Spata31g1 C T 4: 42,974,131 (GRCm39) Q1155* probably null Het
Tas2r140 A G 6: 40,469,154 (GRCm39) K328R possibly damaging Het
Tas2r140 T C 6: 133,032,213 (GRCm39) T182A probably benign Het
Thumpd2 G A 17: 81,372,387 (GRCm39) R35C probably damaging Het
Tnxb A T 17: 34,937,443 (GRCm39) N3811Y probably damaging Het
Tpte A C 8: 22,835,901 (GRCm39) N428T probably damaging Het
Trpm6 A G 19: 18,831,629 (GRCm39) D1498G probably benign Het
Tsc2 C T 17: 24,842,444 (GRCm39) probably benign Het
Ttn C T 2: 76,703,277 (GRCm39) probably benign Het
Wdr24 A G 17: 26,045,017 (GRCm39) I251V probably benign Het
Zc3h6 T C 2: 128,848,006 (GRCm39) Y278H probably damaging Het
Zfat A G 15: 67,990,783 (GRCm39) probably null Het
Zfp442 A T 2: 150,250,042 (GRCm39) V620E possibly damaging Het
Zfp788 A G 7: 41,298,984 (GRCm39) H540R 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
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'- CTCTAATCTGTGGCGTCCAG -3'
(R):5'- ATGCCACATGCTCATCCTGC -3'

Sequencing Primer
(F):5'- AATCTGTGGCGTCCAGTTTTC -3'
(R):5'- TGCCTATGAGCCTGCAGGAATG -3'
Posted On 2014-08-25