Incidental Mutation 'IGL02391:Syn3'
ID 293868
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Syn3
Ensembl Gene ENSMUSG00000059602
Gene Name synapsin III
Synonyms Synapsin IIIa
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02391
Quality Score
Status
Chromosome 10
Chromosomal Location 85890989-86334760 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85900770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 373 (I373V)
Ref Sequence ENSEMBL: ENSMUSP00000113720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120638]
AlphaFold Q8JZP2
Predicted Effect probably benign
Transcript: ENSMUST00000120638
AA Change: I373V

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113720
Gene: ENSMUSG00000059602
AA Change: I373V

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: ENSMUST00000143319
Coding Region Coverage
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. 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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T A 14: 118,790,764 (GRCm39) N748Y probably damaging Het
Actbl2 A G 13: 111,391,701 (GRCm39) D12G possibly damaging Het
Adamts10 T C 17: 33,747,785 (GRCm39) S74P probably benign Het
Adprs C T 4: 126,211,701 (GRCm39) probably benign Het
Amn1 A G 6: 149,070,944 (GRCm39) probably null Het
Antxr1 A T 6: 87,264,038 (GRCm39) I144N probably damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Cabp5 A T 7: 13,132,269 (GRCm39) R13* probably null Het
Cacna1e A G 1: 154,296,859 (GRCm39) Y1669H probably damaging Het
Ccdc174 A G 6: 91,875,263 (GRCm39) E364G possibly damaging Het
Ccdc18 C T 5: 108,283,918 (GRCm39) P74S probably damaging Het
Clec3a C T 8: 115,152,240 (GRCm39) S82L probably benign Het
Cnih3 A G 1: 181,234,078 (GRCm39) D43G probably damaging Het
Dpp10 G A 1: 123,578,087 (GRCm39) T128M probably damaging Het
Edar A T 10: 58,464,403 (GRCm39) F79I probably damaging Het
Eif2ak4 T A 2: 118,251,272 (GRCm39) H199Q probably benign Het
Fermt1 A G 2: 132,783,871 (GRCm39) L46P probably damaging Het
Glipr1 A G 10: 111,824,799 (GRCm39) probably benign Het
Gsdmc T C 15: 63,675,428 (GRCm39) N129S probably damaging Het
Ift88 T C 14: 57,718,871 (GRCm39) S619P possibly damaging Het
Itga9 T A 9: 118,679,873 (GRCm39) V262E probably benign Het
Med17 G A 9: 15,188,963 (GRCm39) R101* probably null Het
Mta1 T A 12: 113,100,203 (GRCm39) I688N possibly damaging Het
Muc4 A T 16: 32,570,894 (GRCm39) R651S probably benign Het
Opcml A G 9: 28,586,560 (GRCm39) I93V probably damaging Het
Or12d17 C T 17: 37,777,477 (GRCm39) P127S probably damaging Het
Or13p4 A G 4: 118,547,538 (GRCm39) L37P probably damaging Het
Or9r7 A G 10: 129,962,773 (GRCm39) V51A possibly damaging Het
Parg T G 14: 31,984,638 (GRCm39) probably null Het
Rps3a3 A G 13: 108,807,417 (GRCm39) probably benign Het
Safb T A 17: 56,907,813 (GRCm39) probably benign Het
Sat2 G T 11: 69,513,575 (GRCm39) C54F probably damaging Het
Scin T A 12: 40,127,530 (GRCm39) Y420F probably benign Het
Slc22a29 A T 19: 8,146,717 (GRCm39) S362T probably benign Het
Smchd1 T C 17: 71,738,254 (GRCm39) D537G probably null Het
Spred3 A G 7: 28,865,830 (GRCm39) S126P probably benign Het
Ssh1 C T 5: 114,080,578 (GRCm39) E951K probably damaging Het
Ssmem1 A G 6: 30,512,441 (GRCm39) E28G possibly damaging Het
Stox1 A T 10: 62,495,455 (GRCm39) probably benign Het
Tecrl A T 5: 83,502,674 (GRCm39) F58L probably benign Het
Trp53bp1 T C 2: 121,033,191 (GRCm39) N1655S possibly damaging Het
Usp2 G T 9: 44,002,524 (GRCm39) Q147H probably damaging Het
Usp24 T A 4: 106,264,326 (GRCm39) N1751K possibly damaging Het
Wipf1 T A 2: 73,264,487 (GRCm39) D438V probably damaging Het
Other mutations in Syn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Syn3 APN 10 86,190,280 (GRCm39) missense probably damaging 1.00
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
R1597:Syn3 UTSW 10 85,970,908 (GRCm39) missense probably benign 0.16
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
Posted On 2015-04-16