Incidental Mutation 'R4246:Snca'
ID 320419
Institutional Source Beutler Lab
Gene Symbol Snca
Ensembl Gene ENSMUSG00000025889
Gene Name synuclein, alpha
Synonyms alpha-Syn, alphaSYN, alpha-synuclein
MMRRC Submission 041062-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4246 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 60708559-60806839 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60710149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 110 (E110G)
Ref Sequence ENSEMBL: ENSMUSP00000126067 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114268] [ENSMUST00000163779]
AlphaFold O55042
Predicted Effect possibly damaging
Transcript: ENSMUST00000114268
AA Change: E110G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109907
Gene: ENSMUSG00000025889
AA Change: E110G

DomainStartEndE-ValueType
Pfam:Synuclein 1 132 8.8e-65 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000163779
AA Change: E110G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126067
Gene: ENSMUSG00000025889
AA Change: E110G

DomainStartEndE-ValueType
Pfam:Synuclein 1 132 8.8e-65 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A G 18: 24,606,013 (GRCm39) N36S possibly damaging Het
Ak1 A G 2: 32,523,384 (GRCm39) T151A possibly damaging Het
Asxl3 A G 18: 22,658,557 (GRCm39) D2189G probably damaging Het
Ccdc91 C T 6: 147,493,646 (GRCm39) A346V unknown Het
Dnah6 C T 6: 73,106,431 (GRCm39) E1769K probably benign Het
Dock6 A T 9: 21,750,786 (GRCm39) probably null Het
Fhod3 A G 18: 25,123,123 (GRCm39) K271R probably null Het
Glyatl3 T A 17: 41,220,989 (GRCm39) D126V probably benign Het
Gnal C G 18: 67,221,654 (GRCm39) P19R unknown Het
Igkv8-21 T A 6: 70,292,436 (GRCm39) M1L possibly damaging Het
Itih4 C A 14: 30,613,359 (GRCm39) H261N probably damaging Het
Jpt1 T C 11: 115,405,119 (GRCm39) probably benign Het
Kif14 G T 1: 136,401,126 (GRCm39) M492I possibly damaging Het
Klhl32 A C 4: 24,800,822 (GRCm39) S3A possibly damaging Het
Kmt2d C T 15: 98,737,970 (GRCm39) probably benign Het
Lamtor5 T C 3: 107,186,354 (GRCm39) V41A probably benign Het
Lmtk3 G A 7: 45,443,486 (GRCm39) C723Y possibly damaging Het
Lrfn1 G T 7: 28,159,367 (GRCm39) V429L probably benign Het
Mapkbp1 T A 2: 119,843,508 (GRCm39) I252N probably damaging Het
Nelfa A G 5: 34,056,373 (GRCm39) F464S probably damaging Het
Nipbl G A 15: 8,361,916 (GRCm39) L1454F probably damaging Het
Nr4a3 C T 4: 48,083,125 (GRCm39) P553S possibly damaging Het
Nrg3 G A 14: 39,194,198 (GRCm39) T187I possibly damaging Het
Or5m5 T A 2: 85,814,624 (GRCm39) C147S possibly damaging Het
Or8g36 A G 9: 39,422,899 (GRCm39) V39A probably benign Het
Pcdha8 A G 18: 37,125,950 (GRCm39) E144G probably damaging Het
Pik3cb T C 9: 98,983,229 (GRCm39) probably null Het
Pira1 C T 7: 3,740,348 (GRCm39) G291E probably damaging Het
Pkd1l1 C T 11: 8,815,543 (GRCm39) R1456K possibly damaging Het
Ppp1r3a T A 6: 14,719,780 (GRCm39) E378V probably damaging Het
Psd2 T C 18: 36,139,172 (GRCm39) L540P probably damaging Het
Rnf14 T A 18: 38,434,701 (GRCm39) probably null Het
Satl1 A G X: 111,316,033 (GRCm39) S141P probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Sh3d19 G A 3: 86,033,995 (GRCm39) V783I probably benign Het
Sumf1 A C 6: 108,131,974 (GRCm39) V156G probably damaging Het
Trhr A T 15: 44,096,856 (GRCm39) probably null Het
Tsen2 A G 6: 115,524,785 (GRCm39) probably benign Het
Tuft1 C A 3: 94,522,108 (GRCm39) M319I probably benign Het
Vill C A 9: 118,889,461 (GRCm39) N132K probably damaging Het
Wars2 T A 3: 99,123,904 (GRCm39) V255E probably damaging Het
Zcchc14 CTGATGGTGGTGGTGATGGTGGTGG CTGATGGTGGTGG 8: 122,331,031 (GRCm39) probably benign 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
R4882:Snca UTSW 6 60,792,719 (GRCm39) missense probably benign 0.44
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'- ACTATGCCAACCATAATGTGAGAG -3'
(R):5'- GCTTTGGCAACTTCCAGTG -3'

Sequencing Primer
(F):5'- TGCCAACCATAATGTGAGAGAGATC -3'
(R):5'- GATTGGTAACCCATGCATGC -3'
Posted On 2015-06-12