Incidental Mutation 'R5449:Syn3'
ID 429232
Institutional Source Beutler Lab
Gene Symbol Syn3
Ensembl Gene ENSMUSG00000059602
Gene Name synapsin III
Synonyms Synapsin IIIa
MMRRC Submission 043014-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5449 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 85890989-86334760 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86187434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 230 (F230Y)
Ref Sequence ENSEMBL: ENSMUSP00000113408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020234] [ENSMUST00000120638] [ENSMUST00000121789]
AlphaFold Q8JZP2
Predicted Effect probably benign
Transcript: ENSMUST00000020234
SMART Domains Protein: ENSMUSP00000020234
Gene: ENSMUSG00000020044

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
NTR 24 194 1.7e-127 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120638
AA Change: F230Y

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113720
Gene: ENSMUSG00000059602
AA Change: F230Y

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 probably damaging
Transcript: ENSMUST00000121789
AA Change: F230Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113408
Gene: ENSMUSG00000059602
AA Change: F230Y

DomainStartEndE-ValueType
Pfam:Synapsin_N 1 32 2.2e-25 PFAM
low complexity region 47 66 N/A INTRINSIC
Pfam:Synapsin 87 190 3.6e-63 PFAM
Pfam:Synapsin_C 192 242 6.7e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123783
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139197
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145864
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T A 4: 103,123,579 (GRCm39) I98F probably benign Het
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
A630010A05Rik A G 16: 14,436,537 (GRCm39) K197E possibly damaging Het
Agrn A G 4: 156,251,737 (GRCm39) probably null Het
Atad5 A G 11: 80,014,934 (GRCm39) I1337V probably damaging Het
Cd44 T C 2: 102,662,891 (GRCm39) T550A probably damaging Het
Cdk5rap2 A C 4: 70,194,888 (GRCm39) L952V probably benign Het
Cep104 T A 4: 154,069,762 (GRCm39) probably null Het
Cfl1 A G 19: 5,543,521 (GRCm39) *167W probably null Het
Col22a1 T C 15: 71,693,798 (GRCm39) D734G unknown Het
Cry1 G A 10: 84,968,999 (GRCm39) L581F probably benign Het
Dmpk A G 7: 18,824,916 (GRCm39) D406G probably benign Het
Faah T C 4: 115,856,692 (GRCm39) probably null Het
Fchsd2 T C 7: 100,926,731 (GRCm39) F607S probably damaging Het
Fga CAAAG CAAAGAAAG 3: 82,938,169 (GRCm39) probably null Het
Hdac5 G A 11: 102,086,923 (GRCm39) Q46* probably null Het
Hltf A G 3: 20,123,247 (GRCm39) T212A possibly damaging Het
Ilvbl G A 10: 78,412,862 (GRCm39) probably null Het
Ldhc T C 7: 46,519,082 (GRCm39) S102P possibly damaging Het
Med12l T C 3: 59,167,127 (GRCm39) V1529A probably damaging Het
Nlrp9a A G 7: 26,257,254 (GRCm39) I202V probably benign Het
Nscme3l G A 19: 5,553,292 (GRCm39) T163M probably benign Het
Pdc A C 1: 150,209,190 (GRCm39) L224F probably damaging Het
Pgr T C 9: 8,956,344 (GRCm39) V764A possibly damaging Het
Plxna1 T C 6: 89,300,590 (GRCm39) D1578G probably damaging Het
Prpf40a G T 2: 53,046,938 (GRCm39) T266N possibly damaging Het
Ptrh1 A G 2: 32,666,358 (GRCm39) S37G probably damaging Het
Rgs9 T C 11: 109,116,570 (GRCm39) D411G probably benign Het
Riok3 A T 18: 12,288,303 (GRCm39) E493D probably damaging Het
Rnf213 T C 11: 119,305,902 (GRCm39) M570T probably benign Het
Scamp2 A G 9: 57,488,154 (GRCm39) D187G probably damaging Het
Scn1a T A 2: 66,151,346 (GRCm39) I819F probably damaging Het
Slc7a5 C A 8: 122,613,087 (GRCm39) W330C probably damaging Het
Tmem8b G A 4: 43,673,992 (GRCm39) V208I probably benign Het
Tro T C X: 149,428,966 (GRCm39) probably benign Het
Ubr1 T A 2: 120,793,981 (GRCm39) M68L probably benign Het
Vmn1r120 A C 7: 20,787,074 (GRCm39) H212Q possibly damaging Het
Vmn1r46 T C 6: 89,953,343 (GRCm39) V64A probably benign Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Zfp384 T C 6: 125,001,101 (GRCm39) S58P probably damaging 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
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
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'- GTTGAACCTTCCTCGAGGTTCC -3'
(R):5'- TCCTAGTGGTGGACAACAGATTC -3'

Sequencing Primer
(F):5'- TTCCTCGAGGTTCCTCAAGAAAC -3'
(R):5'- TTCTAGAACTTAGCACAGGGC -3'
Posted On 2016-09-06