Incidental Mutation 'R8395:Syngr1'
ID 647585
Institutional Source Beutler Lab
Gene Symbol Syngr1
Ensembl Gene ENSMUSG00000022415
Gene Name synaptogyrin 1
Synonyms Syngr1b, p29
MMRRC Submission 067759-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R8395 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 79975537-80003702 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79997445 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 188 (S188P)
Ref Sequence ENSEMBL: ENSMUSP00000009728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009727] [ENSMUST00000009728] [ENSMUST00000135727] [ENSMUST00000143928]
AlphaFold O55100
Predicted Effect probably benign
Transcript: ENSMUST00000009727
SMART Domains Protein: ENSMUSP00000009727
Gene: ENSMUSG00000022415

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Pfam:MARVEL 20 167 6e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000009728
AA Change: S188P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000009728
Gene: ENSMUSG00000022415
AA Change: S188P

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Pfam:MARVEL 20 167 1.2e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135727
Predicted Effect probably benign
Transcript: ENSMUST00000143928
SMART Domains Protein: ENSMUSP00000120696
Gene: ENSMUSG00000022415

DomainStartEndE-ValueType
Pfam:MARVEL 4 111 1.2e-24 PFAM
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 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,218,280 (GRCm39) E352G possibly damaging Het
Ascc3 T C 10: 50,525,400 (GRCm39) F532L possibly damaging Het
Bckdk G A 7: 127,507,139 (GRCm39) V328I probably benign Het
Cenpu T C 8: 47,007,084 (GRCm39) Y26H probably benign Het
Clk3 A T 9: 57,672,445 (GRCm39) V119E probably benign Het
Cnn2 A G 10: 79,828,293 (GRCm39) N90S probably benign Het
Dlk2 T C 17: 46,611,969 (GRCm39) I78T probably damaging Het
Ercc8 G T 13: 108,323,788 (GRCm39) E367* probably null Het
Gbp9 A T 5: 105,228,069 (GRCm39) I571K probably damaging Het
Gm3404 T C 5: 146,462,724 (GRCm39) I29T possibly damaging Het
Gpat4 GTGTT GT 8: 23,669,498 (GRCm39) probably benign Het
Heatr5a A G 12: 51,962,961 (GRCm39) S74P Het
Htr6 T G 4: 138,789,078 (GRCm39) M326L possibly damaging Het
Ighv5-8 C T 12: 113,618,813 (GRCm39) A76V unknown Het
Ippk A G 13: 49,615,096 (GRCm39) E493G probably damaging Het
Kiz A G 2: 146,794,949 (GRCm39) N603S possibly damaging Het
Limch1 A T 5: 67,126,394 (GRCm39) K7N probably damaging Het
Lrp1b C T 2: 40,547,411 (GRCm39) C4257Y Het
Map4k5 C G 12: 69,877,203 (GRCm39) R381T probably null Het
Map9 A G 3: 82,289,276 (GRCm39) I455V probably benign Het
Mpped1 T C 15: 83,684,257 (GRCm39) V93A probably damaging Het
Myh10 T C 11: 68,682,842 (GRCm39) L1129P probably damaging Het
Neb T A 2: 52,065,645 (GRCm39) M6196L probably benign Het
Neb C A 2: 52,147,806 (GRCm39) V2738F probably damaging Het
Or10ad1 A G 15: 98,105,500 (GRCm39) V255A probably benign Het
Or8k18 G A 2: 86,085,878 (GRCm39) S53F possibly damaging Het
Sgf29 T A 7: 126,271,837 (GRCm39) C287* probably null Het
Siglece A G 7: 43,305,523 (GRCm39) V398A probably benign Het
Slc43a1 T C 2: 84,671,266 (GRCm39) L67P probably damaging Het
Slco2a1 A G 9: 102,954,239 (GRCm39) H470R probably benign Het
Spata31d1e A G 13: 59,889,540 (GRCm39) V760A probably benign Het
Trpm4 T C 7: 44,958,634 (GRCm39) D885G probably benign Het
Ubd A T 17: 37,506,249 (GRCm39) Q45L probably damaging Het
Unc45a A T 7: 79,976,080 (GRCm39) C800S probably benign Het
Vmn2r112 A G 17: 22,837,587 (GRCm39) T683A possibly damaging Het
Vmn2r25 T A 6: 123,799,982 (GRCm39) T787S possibly damaging Het
Vmn2r85 G A 10: 130,261,797 (GRCm39) P180L probably damaging Het
Vtcn1 T C 3: 100,791,070 (GRCm39) F36S probably benign Het
Wdr86 A G 5: 24,935,187 (GRCm39) L52P probably damaging Het
Xpo4 A T 14: 57,885,924 (GRCm39) S43T probably benign Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F 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
R3887:Syngr1 UTSW 15 80,000,240 (GRCm39) missense probably damaging 0.99
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
R9746:Syngr1 UTSW 15 79,975,659 (GRCm39) missense probably benign 0.37
Predicted Primers PCR Primer
(F):5'- AAACACCGAATAGCTTGGTGC -3'
(R):5'- TTCAGACCTTTTAACAGCCCAC -3'

Sequencing Primer
(F):5'- TTGGTGCTGCTGCCCAC -3'
(R):5'- AGGGCCCTGTCTAATCCAC -3'
Posted On 2020-09-02