Incidental Mutation 'R3887:Syngr1'
ID 309709
Institutional Source Beutler Lab
Gene Symbol Syngr1
Ensembl Gene ENSMUSG00000022415
Gene Name synaptogyrin 1
Synonyms Syngr1b, p29
MMRRC Submission 040799-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R3887 (G1)
Quality Score 164
Status Validated
Chromosome 15
Chromosomal Location 79975537-80003702 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80000240 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 117 (D117G)
Ref Sequence ENSEMBL: ENSMUSP00000121716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009727] [ENSMUST00000009728] [ENSMUST00000135727] [ENSMUST00000143928]
AlphaFold O55100
Predicted Effect probably benign
Transcript: ENSMUST00000009727
AA Change: D223G

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000009727
Gene: ENSMUSG00000022415
AA Change: D223G

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Pfam:MARVEL 20 167 6e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000009728
SMART Domains Protein: ENSMUSP00000009728
Gene: ENSMUSG00000022415

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Pfam:MARVEL 20 167 1.2e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000135727
AA Change: D117G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000143928
SMART Domains Protein: ENSMUSP00000120696
Gene: ENSMUSG00000022415

DomainStartEndE-ValueType
Pfam:MARVEL 4 111 1.2e-24 PFAM
Meta Mutation Damage Score 0.1751 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (40/40)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein associated with presynaptic vesicles in neuronal cells. The exact function of this protein is unclear, but studies of a similar murine protein suggest that it functions in synaptic plasticity without being required for synaptic transmission. The gene product belongs to the synaptogyrin gene family. Three alternatively spliced variants encoding three different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a moderate decrease in post-tetanic potentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933407L21Rik T A 1: 85,868,273 (GRCm39) probably null Het
Ankdd1a C A 9: 65,409,530 (GRCm39) G469W probably damaging Het
Ano6 A C 15: 95,792,330 (GRCm39) T65P possibly damaging Het
Arhgap26 G A 18: 39,363,019 (GRCm39) probably null Het
Ccdc175 A G 12: 72,182,822 (GRCm39) I399T possibly damaging Het
Ceacam14 T A 7: 17,548,063 (GRCm39) V51D probably damaging Het
Cerk A T 15: 86,033,532 (GRCm39) I297N possibly damaging Het
Cps1 C A 1: 67,204,659 (GRCm39) T493K possibly damaging Het
Dmxl1 T A 18: 50,011,326 (GRCm39) M1161K probably damaging Het
Efcab14 T A 4: 115,595,857 (GRCm39) M1K probably null Het
Etl4 C T 2: 20,534,772 (GRCm39) Q76* probably null Het
Fmc1 T C 6: 38,516,223 (GRCm39) S90P probably benign Het
Fn1 T C 1: 71,679,465 (GRCm39) Y511C probably damaging Het
Foxd2 T C 4: 114,765,483 (GRCm39) H179R unknown Het
Hk2 C T 6: 82,711,942 (GRCm39) D548N possibly damaging Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Lrp5 G A 19: 3,662,330 (GRCm39) R173C probably damaging Het
Mapk12 A T 15: 89,019,840 (GRCm39) H122Q possibly damaging Het
Mdfic C T 6: 15,799,710 (GRCm39) T279I probably damaging Het
Mycbp2 A G 14: 103,412,233 (GRCm39) V2580A probably damaging Het
Mylk3 A G 8: 86,078,676 (GRCm39) I476T probably damaging Het
Ncapg G A 5: 45,831,705 (GRCm39) V184I probably benign Het
Or4a71 T A 2: 89,358,076 (GRCm39) H226L possibly damaging Het
Pla2g15 A G 8: 106,887,767 (GRCm39) Y185C probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rbm45 A G 2: 76,205,768 (GRCm39) S207G probably benign Het
Reln T C 5: 22,115,847 (GRCm39) I3054V possibly damaging Het
Rreb1 G T 13: 38,077,941 (GRCm39) R51L probably damaging Het
Scube2 A T 7: 109,442,383 (GRCm39) probably benign Het
Slc15a2 A G 16: 36,602,666 (GRCm39) F65S probably damaging Het
Slc17a8 G T 10: 89,427,000 (GRCm39) probably benign Het
Snapc4 G A 2: 26,255,510 (GRCm39) Q1005* probably null Het
Stag3 A G 5: 138,297,101 (GRCm39) I550M probably damaging Het
Steap4 G T 5: 8,030,494 (GRCm39) R450L probably damaging Het
Strn4 T C 7: 16,556,923 (GRCm39) probably benign Het
Stxbp3 C T 3: 108,712,549 (GRCm39) probably null Het
Tbc1d10b A T 7: 126,798,967 (GRCm39) I513N possibly damaging Het
Other mutations in Syngr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2092:Syngr1 UTSW 15 80,000,141 (GRCm39) missense possibly damaging 0.93
R2508:Syngr1 UTSW 15 79,995,941 (GRCm39) missense probably damaging 1.00
R5091:Syngr1 UTSW 15 80,000,086 (GRCm39) missense probably damaging 1.00
R5255:Syngr1 UTSW 15 79,975,647 (GRCm39) missense possibly damaging 0.78
R5271:Syngr1 UTSW 15 79,982,240 (GRCm39) missense probably benign 0.01
R5440:Syngr1 UTSW 15 79,982,219 (GRCm39) missense probably benign
R6369:Syngr1 UTSW 15 79,999,791 (GRCm39) unclassified probably benign
R6596:Syngr1 UTSW 15 79,995,893 (GRCm39) missense probably damaging 0.98
R7216:Syngr1 UTSW 15 79,995,934 (GRCm39) missense probably damaging 1.00
R7834:Syngr1 UTSW 15 79,995,818 (GRCm39) missense probably damaging 1.00
R8395:Syngr1 UTSW 15 79,997,445 (GRCm39) missense probably benign 0.00
R9746:Syngr1 UTSW 15 79,975,659 (GRCm39) missense probably benign 0.37
Predicted Primers PCR Primer
(F):5'- GAACGTCTGTAACCCTCTGCATC -3'
(R):5'- TCACTTGGAGGCTGAGCATG -3'

Sequencing Primer
(F):5'- GTAACCCTCTGCATCCTGTCAAC -3'
(R):5'- ATGTGCTAGGCAGAGTCACCTG -3'
Posted On 2015-04-17