Incidental Mutation 'R4882:Snca'
ID 375326
Institutional Source Beutler Lab
Gene Symbol Snca
Ensembl Gene ENSMUSG00000025889
Gene Name synuclein, alpha
Synonyms alpha-Syn, alphaSYN, alpha-synuclein
MMRRC Submission 042490-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4882 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 60708559-60806839 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 60792719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 63 (V63A)
Ref Sequence ENSEMBL: ENSMUSP00000126067 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114268] [ENSMUST00000163779]
AlphaFold O55042
Predicted Effect probably benign
Transcript: ENSMUST00000114268
AA Change: V63A

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109907
Gene: ENSMUSG00000025889
AA Change: V63A

DomainStartEndE-ValueType
Pfam:Synuclein 1 132 8.8e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163779
AA Change: V63A

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000126067
Gene: ENSMUSG00000025889
AA Change: V63A

DomainStartEndE-ValueType
Pfam:Synuclein 1 132 8.8e-65 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203177
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204586
Meta Mutation Damage Score 0.0844 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 98% (59/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alpha-synuclein is a member of the synuclein family, which also includes beta- and gamma-synuclein. Synucleins are abundantly expressed in the brain and alpha- and beta-synuclein inhibit phospholipase D2 selectively. SNCA may serve to integrate presynaptic signaling and membrane trafficking. Defects in SNCA have been implicated in the pathogenesis of Parkinson disease. SNCA peptides are a major component of amyloid plaques in the brains of patients with Alzheimer's disease. Alternatively spliced transcripts encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene display resistance to the effects of MPTP on dopamine levels. Mice expressing a knock-in allele exhibit impaired coordination, long stride length, abnormal response to reserpine and reduced brain dopamine levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap3 A G 4: 155,990,112 (GRCm39) D764G probably damaging Het
Adgrg6 T A 10: 14,310,081 (GRCm39) I775F possibly damaging Het
Ahnak T A 19: 8,983,261 (GRCm39) M1515K probably damaging Het
Aqp4 A G 18: 15,531,311 (GRCm39) V150A possibly damaging Het
Axdnd1 A T 1: 156,223,129 (GRCm39) probably null Het
Bap1 C T 14: 30,973,678 (GRCm39) probably benign Het
BB014433 A G 8: 15,092,016 (GRCm39) V279A probably benign Het
Cacng8 T C 7: 3,460,669 (GRCm39) Y151H probably damaging Het
Caskin1 T C 17: 24,723,389 (GRCm39) S726P probably damaging Het
Cd200 T C 16: 45,217,380 (GRCm39) T104A probably benign Het
Cdk12 C T 11: 98,101,272 (GRCm39) R377C unknown Het
Ceacam13 A G 7: 17,746,997 (GRCm39) H150R probably benign Het
Cebpzos T C 17: 79,227,220 (GRCm39) Y65H probably benign Het
Cgnl1 T A 9: 71,624,683 (GRCm39) M630L probably benign Het
Dop1b G T 16: 93,549,802 (GRCm39) R247L possibly damaging Het
Dqx1 A G 6: 83,043,069 (GRCm39) probably null Het
Etaa1 T C 11: 17,896,174 (GRCm39) S648G probably benign Het
Flnb A G 14: 7,929,936 (GRCm38) D2022G possibly damaging Het
Gpr158 T A 2: 21,830,059 (GRCm39) N701K probably damaging Het
H2-Eb2 C T 17: 34,553,230 (GRCm39) H139Y probably benign Het
Hbb-bh2 A T 7: 103,488,455 (GRCm39) V114E probably damaging Het
Ifna9 T A 4: 88,510,540 (GRCm39) Q28L probably benign Het
Inca1 T C 11: 70,579,566 (GRCm39) T188A probably benign Het
Irf9 G T 14: 55,846,496 (GRCm39) probably benign Het
Kdm1b T A 13: 47,214,369 (GRCm39) H238Q probably benign Het
Lpin1 G C 12: 16,588,537 (GRCm39) F851L probably damaging Het
Map3k9 C T 12: 81,770,936 (GRCm39) R884Q probably damaging Het
Mcm3ap C T 10: 76,320,495 (GRCm39) Q818* probably null Het
Mcm7 A T 5: 138,164,173 (GRCm39) probably null Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Nppa G T 4: 148,085,544 (GRCm39) M50I probably benign Het
Opcml G A 9: 28,812,886 (GRCm39) E193K probably damaging Het
Phf14 T A 6: 11,988,756 (GRCm39) N665K possibly damaging Het
Plekhh3 G A 11: 101,056,009 (GRCm39) A47V probably damaging Het
Plekhh3 T A 11: 101,058,764 (GRCm39) E156V probably null Het
Prpf19 T C 19: 10,876,323 (GRCm39) probably benign Het
Rev3l T A 10: 39,697,456 (GRCm39) V651E possibly damaging Het
Sgpl1 T C 10: 60,948,044 (GRCm39) N171S probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slx4 T C 16: 3,798,860 (GRCm39) probably null Het
Smchd1 T A 17: 71,665,234 (GRCm39) probably benign Het
Taok3 A T 5: 117,390,695 (GRCm39) Q92L probably damaging Het
Uhrf1 T C 17: 56,616,401 (GRCm39) V73A probably damaging Het
Usp38 G A 8: 81,708,606 (GRCm39) Q991* probably null Het
Vmn2r96 T A 17: 18,817,866 (GRCm39) V673E probably damaging Het
Zan A G 5: 137,436,710 (GRCm39) Y2048H unknown Het
Zfp759 T A 13: 67,287,354 (GRCm39) Y302N probably damaging Het
Other mutations in Snca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02700:Snca APN 6 60,804,521 (GRCm39) missense possibly damaging 0.95
IGL03101:Snca APN 6 60,804,595 (GRCm39) utr 5 prime probably benign
R4246:Snca UTSW 6 60,710,149 (GRCm39) missense possibly damaging 0.92
R6291:Snca UTSW 6 60,792,702 (GRCm39) missense probably damaging 1.00
R9358:Snca UTSW 6 60,710,121 (GRCm39) missense probably benign 0.11
R9366:Snca UTSW 6 60,792,675 (GRCm39) missense probably benign 0.40
Predicted Primers PCR Primer
(F):5'- TGTTCCCCACAGTGTGCATC -3'
(R):5'- GTTTGGCTGAAACATGTCTCTTC -3'

Sequencing Primer
(F):5'- CATGCTCTATGATGCATGCAAGGAC -3'
(R):5'- GGCTGAAACATGTCTCTTCTACCTTG -3'
Posted On 2016-03-17