Incidental Mutation 'R1597:Syn3'
ID 175883
Institutional Source Beutler Lab
Gene Symbol Syn3
Ensembl Gene ENSMUSG00000059602
Gene Name synapsin III
Synonyms Synapsin IIIa
MMRRC Submission 039634-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1597 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 85890989-86334760 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 85970908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 238 (T238K)
Ref Sequence ENSEMBL: ENSMUSP00000113720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120638]
AlphaFold Q8JZP2
Predicted Effect probably benign
Transcript: ENSMUST00000120638
AA Change: T238K

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000113720
Gene: ENSMUSG00000059602
AA Change: T238K

DomainStartEndE-ValueType
Pfam:Synapsin_N 1 32 8.7e-22 PFAM
low complexity region 47 66 N/A INTRINSIC
low complexity region 80 88 N/A INTRINSIC
Pfam:Synapsin 89 190 1.8e-46 PFAM
Pfam:Synapsin_C 192 394 6.8e-141 PFAM
low complexity region 418 485 N/A INTRINSIC
low complexity region 535 551 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145864
Meta Mutation Damage Score 0.1053 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 91.1%
Validation Efficiency 100% (77/77)
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. The protein encoded by this gene shares the synapsin family domain model, with domains A, C, and E exhibiting the highest degree of conservation. The protein contains a unique domain J, located between domains C and E. Based on this gene's localization to 22q12.3, a possible schizophrenia susceptibility locus, and the established neurobiological roles of the synapsins, this family member may represent a candidate gene for schizophrenia. The TIMP3 gene is located within an intron of this gene and is transcribed in the opposite direction. Alternative splicing of this gene results in multiple splice variants that encode different isoforms. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display altered neurotransmitter release, reduced synaptic depression, and a specific delay in early axon outgrowth in cultured hippocampal neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta2 A T 19: 34,229,983 (GRCm39) probably benign Het
Afap1l2 T C 19: 56,902,881 (GRCm39) N748S probably benign Het
Aox1 T A 1: 58,086,326 (GRCm39) I77N probably damaging Het
Ap1s1 A T 5: 137,072,095 (GRCm39) M20K probably damaging Het
Atad3a A T 4: 155,835,892 (GRCm39) probably null Het
Atp1b1 G T 1: 164,265,889 (GRCm39) R291S probably damaging Het
Birc7 T C 2: 180,570,974 (GRCm39) V12A possibly damaging Het
Btnl2 T C 17: 34,582,211 (GRCm39) V259A probably damaging Het
Cdh11 A T 8: 103,377,343 (GRCm39) N434K probably benign Het
Cel G T 2: 28,450,479 (GRCm39) probably benign Het
Col10a1 A G 10: 34,271,074 (GRCm39) K349E probably damaging Het
Ddhd2 A G 8: 26,239,768 (GRCm39) V315A probably benign Het
Dnah17 C A 11: 117,994,324 (GRCm39) probably benign Het
Dock2 T C 11: 34,595,474 (GRCm39) T441A probably benign Het
Ermap A T 4: 119,041,152 (GRCm39) I286N probably damaging Het
Fbxl17 T C 17: 63,794,813 (GRCm39) K423R probably damaging Het
Frem2 T C 3: 53,561,940 (GRCm39) T856A probably benign Het
Gas6 T C 8: 13,543,901 (GRCm39) E64G probably damaging Het
Gzma T A 13: 113,232,331 (GRCm39) N190I probably damaging Het
Ifngr1 C T 10: 19,485,090 (GRCm39) T363M probably damaging Het
Itga7 A G 10: 128,782,732 (GRCm39) T690A probably benign Het
Kif15 A G 9: 122,823,074 (GRCm39) E485G probably benign Het
Kif18a A G 2: 109,123,336 (GRCm39) I203M probably damaging Het
Klhl1 A T 14: 96,438,647 (GRCm39) probably null Het
Lrch3 C T 16: 32,770,781 (GRCm39) Q128* probably null Het
Lrriq4 C G 3: 30,705,037 (GRCm39) P355R probably damaging Het
Mcm10 A T 2: 5,003,563 (GRCm39) H551Q probably damaging Het
Mcm3ap T C 10: 76,319,060 (GRCm39) F763L probably damaging Het
Mdc1 T A 17: 36,156,758 (GRCm39) V55E probably damaging Het
Me2 A T 18: 73,931,016 (GRCm39) N92K probably damaging Het
Mtss1 A G 15: 58,815,560 (GRCm39) S667P probably damaging Het
Mup5 A T 4: 61,753,317 (GRCm39) Y15N possibly damaging Het
Mx1 T A 16: 97,256,329 (GRCm39) M197L probably damaging Het
N4bp2 C T 5: 65,964,483 (GRCm39) T844I probably benign Het
Nlrc3 T A 16: 3,781,859 (GRCm39) R517W probably damaging Het
Nos3 A T 5: 24,573,995 (GRCm39) I227F probably damaging Het
Or52a5 A G 7: 103,427,267 (GRCm39) F95S probably benign Het
Pabpc2 A G 18: 39,906,953 (GRCm39) N73D probably damaging Het
Pcdhb18 A G 18: 37,624,820 (GRCm39) R717G probably benign Het
Pcsk5 T A 19: 17,413,964 (GRCm39) M1702L probably benign Het
Plxna2 A C 1: 194,431,614 (GRCm39) probably benign Het
Polr2a A G 11: 69,630,755 (GRCm39) M1221T possibly damaging Het
Polr2b A G 5: 77,473,948 (GRCm39) D384G probably damaging Het
Ppl T A 16: 4,925,438 (GRCm39) H67L probably benign Het
Psmd5 A G 2: 34,757,035 (GRCm39) L63S probably damaging Het
Psme1 A G 14: 55,818,222 (GRCm39) T150A probably damaging Het
Rapgef5 C T 12: 117,621,940 (GRCm39) R33C probably damaging Het
Rela G A 19: 5,695,359 (GRCm39) R295H probably damaging Het
Rpe65 T A 3: 159,320,421 (GRCm39) V326E probably damaging Het
Scn5a C A 9: 119,391,563 (GRCm39) R43L probably damaging Het
Skida1 T C 2: 18,051,143 (GRCm39) probably benign Het
Slc4a4 G A 5: 89,283,587 (GRCm39) A469T probably benign Het
Spaca7 G T 8: 12,630,991 (GRCm39) E48* probably null Het
Taok1 A G 11: 77,470,626 (GRCm39) S60P probably benign Het
Tecpr1 A G 5: 144,151,128 (GRCm39) I256T probably benign Het
Tenm4 T A 7: 96,552,196 (GRCm39) probably null Het
Tex15 A G 8: 34,061,511 (GRCm39) T588A probably damaging Het
Tgfbi T A 13: 56,780,004 (GRCm39) probably benign Het
Tmem62 G A 2: 120,814,843 (GRCm39) A169T probably benign Het
Tnc A G 4: 63,924,621 (GRCm39) S1026P probably benign Het
Tnik T C 3: 28,658,418 (GRCm39) S568P probably damaging Het
Trpm6 A T 19: 18,804,888 (GRCm39) I947F probably damaging Het
Ttc27 T A 17: 75,170,402 (GRCm39) L832Q possibly damaging Het
U2surp C T 9: 95,363,793 (GRCm39) probably benign Het
Ube4a A T 9: 44,841,064 (GRCm39) D1009E possibly damaging Het
Unc13d T C 11: 115,965,262 (GRCm39) E192G probably benign Het
Vmn2r71 T C 7: 85,273,352 (GRCm39) V722A possibly damaging Het
Zfp386 T C 12: 116,023,709 (GRCm39) S476P probably damaging Het
Zfp644 A T 5: 106,786,199 (GRCm39) V116D probably damaging Het
Zfyve16 T A 13: 92,644,755 (GRCm39) N1149I probably benign Het
Other mutations in Syn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Syn3 APN 10 86,190,280 (GRCm39) missense probably damaging 1.00
IGL02391:Syn3 APN 10 85,900,770 (GRCm39) missense probably benign 0.22
IGL02598:Syn3 APN 10 86,303,063 (GRCm39) missense probably damaging 0.99
IGL03007:Syn3 APN 10 85,900,778 (GRCm39) missense possibly damaging 0.57
IGL03379:Syn3 APN 10 85,900,736 (GRCm39) missense possibly damaging 0.80
R0234:Syn3 UTSW 10 86,284,750 (GRCm39) missense possibly damaging 0.64
R0234:Syn3 UTSW 10 86,284,750 (GRCm39) missense possibly damaging 0.64
R1577:Syn3 UTSW 10 86,284,728 (GRCm39) critical splice donor site probably null
R1699:Syn3 UTSW 10 85,916,075 (GRCm39) missense probably damaging 1.00
R1916:Syn3 UTSW 10 86,190,208 (GRCm39) critical splice donor site probably null
R2006:Syn3 UTSW 10 85,909,097 (GRCm39) missense probably benign 0.20
R2025:Syn3 UTSW 10 86,302,846 (GRCm39) missense probably damaging 0.97
R4413:Syn3 UTSW 10 85,891,456 (GRCm39) unclassified probably benign
R4904:Syn3 UTSW 10 86,302,950 (GRCm39) missense possibly damaging 0.91
R5050:Syn3 UTSW 10 86,243,532 (GRCm39) missense probably benign 0.05
R5286:Syn3 UTSW 10 86,187,428 (GRCm39) missense possibly damaging 0.93
R5449:Syn3 UTSW 10 86,187,434 (GRCm39) missense probably damaging 1.00
R5507:Syn3 UTSW 10 85,916,090 (GRCm39) missense probably benign 0.01
R5792:Syn3 UTSW 10 86,130,492 (GRCm39) makesense probably null
R6525:Syn3 UTSW 10 86,302,916 (GRCm39) missense probably damaging 0.99
R6605:Syn3 UTSW 10 85,893,428 (GRCm39) missense unknown
R7000:Syn3 UTSW 10 85,916,116 (GRCm39) missense probably damaging 1.00
R7619:Syn3 UTSW 10 85,893,428 (GRCm39) missense unknown
R7661:Syn3 UTSW 10 85,904,940 (GRCm39) missense probably damaging 1.00
R7710:Syn3 UTSW 10 86,243,534 (GRCm39) missense probably damaging 0.98
R7730:Syn3 UTSW 10 86,284,773 (GRCm39) missense probably benign 0.05
R7798:Syn3 UTSW 10 85,916,117 (GRCm39) missense probably damaging 1.00
R7819:Syn3 UTSW 10 85,891,404 (GRCm39) unclassified probably benign
R7899:Syn3 UTSW 10 85,900,793 (GRCm39) missense possibly damaging 0.94
R8248:Syn3 UTSW 10 85,970,885 (GRCm39) missense probably benign 0.13
R8342:Syn3 UTSW 10 86,302,891 (GRCm39) missense probably damaging 0.99
R8494:Syn3 UTSW 10 86,190,265 (GRCm39) missense probably damaging 1.00
R9000:Syn3 UTSW 10 85,893,489 (GRCm39) missense unknown
X0023:Syn3 UTSW 10 86,190,341 (GRCm39) missense probably benign 0.35
Z1177:Syn3 UTSW 10 85,916,073 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCTGGTGGAAGCTGACTGATTCCC -3'
(R):5'- TGTGCAAAGGCGTATTGGAGCG -3'

Sequencing Primer
(F):5'- TTCAAGGTGATGTCCAGAGC -3'
(R):5'- CGATAGCAGAGTGGCCTC -3'
Posted On 2014-04-24