Incidental Mutation 'R9411:Syn2'
ID 711802
Institutional Source Beutler Lab
Gene Symbol Syn2
Ensembl Gene ENSMUSG00000009394
Gene Name synapsin II
Synonyms Synapsin IIa, 2900074L19Rik, Synapsin IIb
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # R9411 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 115111863-115258967 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115231152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 269 (V269A)
Ref Sequence ENSEMBL: ENSMUSP00000009538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009538] [ENSMUST00000032462] [ENSMUST00000166681] [ENSMUST00000169345] [ENSMUST00000203450] [ENSMUST00000205131]
AlphaFold Q64332
Predicted Effect possibly damaging
Transcript: ENSMUST00000009538
AA Change: V269A

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000009538
Gene: ENSMUSG00000009394
AA Change: V269A

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: ENSMUST00000032462
SMART Domains Protein: ENSMUSP00000032462
Gene: ENSMUSG00000030317

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
NTR 30 207 1.85e-122 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166681
Predicted Effect possibly damaging
Transcript: ENSMUST00000169345
AA Change: V269A

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133121
Gene: ENSMUSG00000009394
AA Change: V269A

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 possibly damaging
Transcript: ENSMUST00000203450
AA Change: V269A

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144921
Gene: ENSMUSG00000009394
AA Change: V269A

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 probably benign
Transcript: ENSMUST00000205131
SMART Domains Protein: ENSMUSP00000144785
Gene: ENSMUSG00000030317

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
NTR 30 175 2.6e-76 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
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
Acot12 G A 13: 91,919,919 (GRCm39) A285T probably damaging Het
Arih2 C G 9: 108,488,938 (GRCm39) R260P probably damaging Het
Atg7 T A 6: 114,690,289 (GRCm39) M650K probably benign Het
B020011L13Rik G A 1: 117,729,246 (GRCm39) G251E probably benign Het
Bhlha9 T C 11: 76,564,018 (GRCm39) V215A probably benign Het
Bmal1 C A 7: 112,907,837 (GRCm39) S513* probably null Het
C2cd3 T C 7: 100,065,704 (GRCm39) V452A Het
Cd55 G A 1: 130,368,114 (GRCm39) H370Y probably benign Het
Col6a1 A G 10: 76,547,487 (GRCm39) V662A unknown Het
Crocc A G 4: 140,749,577 (GRCm39) probably null Het
Cspg4b T A 13: 113,504,767 (GRCm39) N1965K Het
Dnah1 C T 14: 31,018,256 (GRCm39) V1421M probably damaging Het
Eid3 T G 10: 82,703,652 (GRCm39) I371S probably damaging Het
Flnc G A 6: 29,441,484 (GRCm39) R422Q probably benign Het
Fshr T C 17: 89,293,148 (GRCm39) Y510C probably damaging Het
Garem1 C T 18: 21,369,057 (GRCm39) probably null Het
Gcn1 C T 5: 115,733,098 (GRCm39) T1045M possibly damaging Het
Ggt6 T A 11: 72,326,560 (GRCm39) L39H probably damaging Het
Glrb T C 3: 80,767,610 (GRCm39) probably null Het
Gpr171 T A 3: 59,005,311 (GRCm39) K155* probably null Het
Has2 T A 15: 56,531,306 (GRCm39) T470S possibly damaging Het
Ighv1-34 C T 12: 114,815,070 (GRCm39) V31M probably damaging Het
Kdm2a A T 19: 4,412,835 (GRCm39) N50K probably damaging Het
Mfsd9 C T 1: 40,829,692 (GRCm39) V30M probably damaging Het
Msra A G 14: 64,471,331 (GRCm39) I126T probably benign Het
Nkd2 G A 13: 73,969,330 (GRCm39) L379F probably benign Het
Nr2f2 A C 7: 70,007,525 (GRCm39) V319G Het
Ntng2 A T 2: 29,138,048 (GRCm39) L2Q probably damaging Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Pcnt T C 10: 76,258,896 (GRCm39) E523G probably damaging Het
Pllp C T 8: 95,402,868 (GRCm39) A158T probably benign Het
Plxna4 A G 6: 32,159,682 (GRCm39) S1431P probably damaging Het
Pramel16 A T 4: 143,676,215 (GRCm39) F296L probably damaging Het
Pramel31 A G 4: 144,089,997 (GRCm39) I346V probably benign Het
Prpf40a T C 2: 53,029,200 (GRCm39) D951G unknown Het
Retn G A 8: 3,707,378 (GRCm39) A113T probably benign Het
Rexo1 G T 10: 80,397,248 (GRCm39) R3S Het
Rras T A 7: 44,669,979 (GRCm39) I137N possibly damaging Het
Rsf1 A AAGGCGACGG 7: 97,229,111 (GRCm39) probably null Het
Sntb2 A G 8: 107,737,931 (GRCm39) D493G probably damaging Het
Socs5 T C 17: 87,442,521 (GRCm39) I487T possibly damaging Het
Spryd3 A G 15: 102,027,843 (GRCm39) Y235H probably damaging Het
Suco T A 1: 161,666,356 (GRCm39) I515F probably damaging Het
Tmbim6 T C 15: 99,304,501 (GRCm39) L186P probably damaging Het
Tmem234 T C 4: 129,495,988 (GRCm39) Y57H probably damaging Het
Tnik C A 3: 28,684,754 (GRCm39) P861T probably damaging Het
Tns1 A G 1: 73,992,662 (GRCm39) L45P probably damaging Het
Veph1 T A 3: 65,995,238 (GRCm39) D671V possibly damaging Het
Vwc2l A T 1: 70,767,980 (GRCm39) I15F probably benign Het
Zdbf2 A T 1: 63,343,288 (GRCm39) N556Y probably damaging Het
Zfp202 T A 9: 40,118,878 (GRCm39) V97D probably damaging Het
Zfp800 T C 6: 28,243,430 (GRCm39) I512V possibly damaging Het
Zkscan2 T C 7: 123,084,405 (GRCm39) D573G 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
R5101:Syn2 UTSW 6 115,240,860 (GRCm39) missense probably damaging 1.00
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
R9764:Syn2 UTSW 6 115,251,219 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TTGCCAGGGTTATCTAATGCAG -3'
(R):5'- ACTGGGTTGCTTATATTCTTCACTG -3'

Sequencing Primer
(F):5'- AGATGGTTCTGACACACCTG -3'
(R):5'- TCTTCACTGTATAATTAGGCAAAGC -3'
Posted On 2022-05-16