Incidental Mutation 'R5101:Syn2'
ID 392354
Institutional Source Beutler Lab
Gene Symbol Syn2
Ensembl Gene ENSMUSG00000009394
Gene Name synapsin II
Synonyms Synapsin IIa, 2900074L19Rik, Synapsin IIb
MMRRC Submission 042852-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # R5101 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 115111863-115258967 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115240860 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 410 (L410P)
Ref Sequence ENSEMBL: ENSMUSP00000144921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009538] [ENSMUST00000166681] [ENSMUST00000169345] [ENSMUST00000203450]
AlphaFold Q64332
Predicted Effect probably damaging
Transcript: ENSMUST00000009538
AA Change: L410P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000009538
Gene: ENSMUSG00000009394
AA Change: L410P

DomainStartEndE-ValueType
Pfam:Synapsin_N 2 33 3.4e-24 PFAM
Pfam:Synapsin 112 213 6.4e-48 PFAM
Pfam:Synapsin_C 215 417 8.2e-140 PFAM
low complexity region 450 470 N/A INTRINSIC
low complexity region 473 507 N/A INTRINSIC
low complexity region 524 540 N/A INTRINSIC
low complexity region 551 562 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000166681
Predicted Effect probably damaging
Transcript: ENSMUST00000169345
AA Change: L410P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133121
Gene: ENSMUSG00000009394
AA Change: L410P

DomainStartEndE-ValueType
Pfam:Synapsin_N 2 33 1.3e-24 PFAM
Pfam:Synapsin 109 213 1.6e-62 PFAM
Pfam:Synapsin_C 215 417 4.4e-133 PFAM
Pfam:RimK 247 403 4.5e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000203450
AA Change: L410P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144921
Gene: ENSMUSG00000009394
AA Change: L410P

DomainStartEndE-ValueType
Pfam:Synapsin_N 2 33 2.7e-24 PFAM
Pfam:Synapsin 112 213 4.6e-48 PFAM
Pfam:Synapsin_C 215 417 5.3e-140 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203768
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204617
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204726
Meta Mutation Damage Score 0.3947 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.0%
Validation Efficiency 100% (57/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family encodes a neuron-specific phosphoprotein that selectively binds to small synaptic vesicles in the presynaptic nerve terminal. Polymorphisms in this gene are associated with abnormal presynaptic function and related neuronal disorders, including autism, epilepsy, bipolar disorder and schizophrenia. Alternative splicing of this gene results in multiple transcript variants. The tissue inhibitor of metalloproteinase 4 gene is located within an intron of this gene and is transcribed in the opposite direction. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygous mutation of this gene results in central nervous system abnormalities. One model showed delayed synapse formation and decreased brain weight while another allele showed decreased post-tetanic potentiation and increased synaptic depression and development of convulsive seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 T C 12: 21,423,406 (GRCm39) T10A possibly damaging Het
Adgrg3 T C 8: 95,763,563 (GRCm39) F288S probably benign Het
Ago2 A G 15: 72,991,339 (GRCm39) V533A probably damaging Het
Akap9 T G 5: 4,051,748 (GRCm39) V1505G probably damaging Het
Apob T C 12: 8,061,934 (GRCm39) I3439T probably benign Het
C1qtnf7 T A 5: 43,773,314 (GRCm39) Y204* probably null Het
Cdc42bpb T C 12: 111,265,549 (GRCm39) E1461G probably damaging Het
Cdh3 C T 8: 107,268,024 (GRCm39) A353V possibly damaging Het
Clec4d A G 6: 123,244,071 (GRCm39) Y60C probably damaging Het
Cmya5 T A 13: 93,228,111 (GRCm39) T2326S possibly damaging Het
Cnot1 G A 8: 96,486,815 (GRCm39) L631F possibly damaging Het
Cntnap5a C T 1: 116,370,026 (GRCm39) T881I probably benign Het
Col6a1 T A 10: 76,545,740 (GRCm39) T911S unknown Het
Ctsw A G 19: 5,515,703 (GRCm39) V287A probably benign Het
Cyp2c23 T C 19: 44,017,622 (GRCm39) E2G unknown Het
Cytip A T 2: 58,037,911 (GRCm39) I151N probably damaging Het
Dnah10 A G 5: 124,909,577 (GRCm39) T4399A possibly damaging Het
Dock3 A T 9: 106,846,980 (GRCm39) I883N probably damaging Het
Entpd3 A G 9: 120,395,608 (GRCm39) *530W probably null Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gp1ba G A 11: 70,532,225 (GRCm39) V664M probably benign Het
Gpd2 T A 2: 57,245,913 (GRCm39) I481N probably damaging Het
Gvin-ps5 T C 7: 105,929,096 (GRCm39) noncoding transcript Het
Ildr2 A G 1: 166,135,331 (GRCm39) D342G probably damaging Het
Krt87 A G 15: 101,385,391 (GRCm39) I327T probably benign Het
Lats1 T A 10: 7,588,348 (GRCm39) C988* probably null Het
Lpin2 G A 17: 71,550,965 (GRCm39) W708* probably null Het
Mast4 T C 13: 102,872,864 (GRCm39) D2168G probably benign Het
Myo6 G T 9: 80,177,321 (GRCm39) E606* probably null Het
Nek7 A G 1: 138,443,431 (GRCm39) V174A probably benign Het
Nid1 T A 13: 13,658,339 (GRCm39) C695S probably damaging Het
Nme8 A G 13: 19,875,017 (GRCm39) probably null Het
Nr2c2 T C 6: 92,131,497 (GRCm39) probably null Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2ag18 A T 7: 106,405,420 (GRCm39) I83K possibly damaging Het
Or4x11 A G 2: 89,867,391 (GRCm39) M43V probably benign Het
Or51ab3 G A 7: 103,201,150 (GRCm39) E53K probably damaging Het
Or9g19 A G 2: 85,600,268 (GRCm39) N41S probably damaging Het
Pms2 A G 5: 143,865,006 (GRCm39) D696G probably damaging Het
Psapl1 T A 5: 36,361,494 (GRCm39) C29S probably damaging Het
Scn3a A T 2: 65,291,850 (GRCm39) V1632D probably damaging Het
Slc22a1 C T 17: 12,886,129 (GRCm39) G168D probably damaging Het
Smad4 A G 18: 73,808,931 (GRCm39) V112A probably benign Het
Smc4 T C 3: 68,935,845 (GRCm39) V796A probably benign Het
Smco4 A G 9: 15,455,968 (GRCm39) E18G unknown Het
Spata31e2 T C 1: 26,722,417 (GRCm39) E921G possibly damaging Het
Sugp2 A G 8: 70,713,139 (GRCm39) E1035G probably damaging Het
Syde2 T C 3: 145,721,393 (GRCm39) S820P probably damaging Het
Tmem131l T C 3: 83,844,811 (GRCm39) N466S probably damaging Het
Uba1y T G Y: 821,447 (GRCm39) probably null Het
Unc79 T C 12: 103,078,769 (GRCm39) S1645P probably damaging Het
Vmn2r17 A T 5: 109,576,217 (GRCm39) S363C probably damaging Het
Vmn2r78 T C 7: 86,571,563 (GRCm39) Y458H probably damaging Het
Other mutations in Syn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03040:Syn2 APN 6 115,240,926 (GRCm39) missense possibly damaging 0.92
IGL03328:Syn2 APN 6 115,251,221 (GRCm39) missense probably damaging 0.97
R0044:Syn2 UTSW 6 115,112,108 (GRCm39) missense unknown
R0267:Syn2 UTSW 6 115,231,111 (GRCm39) unclassified probably benign
R2026:Syn2 UTSW 6 115,255,212 (GRCm39) missense probably benign 0.01
R2290:Syn2 UTSW 6 115,251,190 (GRCm39) missense possibly damaging 0.91
R2900:Syn2 UTSW 6 115,214,295 (GRCm39) missense possibly damaging 0.74
R3949:Syn2 UTSW 6 115,204,290 (GRCm39) splice site probably null
R3983:Syn2 UTSW 6 115,214,259 (GRCm39) missense probably benign 0.01
R5502:Syn2 UTSW 6 115,255,313 (GRCm39) missense possibly damaging 0.96
R6334:Syn2 UTSW 6 115,240,875 (GRCm39) missense possibly damaging 0.92
R6546:Syn2 UTSW 6 115,258,059 (GRCm39) missense probably benign 0.18
R6766:Syn2 UTSW 6 115,216,362 (GRCm39) missense probably damaging 0.97
R7491:Syn2 UTSW 6 115,231,615 (GRCm39) missense probably benign 0.09
R8671:Syn2 UTSW 6 115,255,128 (GRCm39) nonsense probably null
R9411:Syn2 UTSW 6 115,231,152 (GRCm39) missense possibly damaging 0.67
R9764:Syn2 UTSW 6 115,251,219 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TTGCAGCAGAAACAAACGGTTC -3'
(R):5'- TGTGGATCCCAGCACGTATC -3'

Sequencing Primer
(F):5'- GAAACAAACGGTTCCTGTCTCTG -3'
(R):5'- GGATCCCAGCACGTATCTGACC -3'
Posted On 2016-06-15