Incidental Mutation 'R0381:Sypl2'
ID 30966
Institutional Source Beutler Lab
Gene Symbol Sypl2
Ensembl Gene ENSMUSG00000027887
Gene Name synaptophysin like 2
Synonyms Mg29
MMRRC Submission 038587-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0381 (G1)
Quality Score 198
Status Not validated
Chromosome 3
Chromosomal Location 108119582-108133915 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108133473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 32 (E32G)
Ref Sequence ENSEMBL: ENSMUSP00000116756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000141387]
AlphaFold O89104
Predicted Effect possibly damaging
Transcript: ENSMUST00000141387
AA Change: E32G

PolyPhen 2 Score 0.575 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116756
Gene: ENSMUSG00000027887
AA Change: E32G

DomainStartEndE-ValueType
low complexity region 9 65 N/A INTRINSIC
Pfam:MARVEL 107 309 7.2e-41 PFAM
low complexity region 318 326 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198175
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.6%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted null mutation are viable and fertile, but exhibit reduced body weight, abnormal skeletal muscle membranes and irregular skeletal muscle contractility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A G 7: 45,757,858 (GRCm39) V1297A possibly damaging Het
Agbl2 C T 2: 90,614,442 (GRCm39) H25Y probably damaging Het
Akap11 A T 14: 78,750,990 (GRCm39) W466R probably benign Het
Ccdc66 T A 14: 27,213,890 (GRCm39) Q471L probably damaging Het
Dennd1c G A 17: 57,380,822 (GRCm39) A210V probably damaging Het
F13b A G 1: 139,438,597 (GRCm39) K334E probably damaging Het
Fam186a A C 15: 99,840,055 (GRCm39) I2063R probably damaging Het
Fcrl5 T C 3: 87,353,767 (GRCm39) Y371H probably damaging Het
Fnbp1 C T 2: 30,923,041 (GRCm39) G549D probably benign Het
Fndc3a A G 14: 72,794,067 (GRCm39) Y869H probably benign Het
Gm7592 A G 1: 85,454,437 (GRCm39) noncoding transcript Het
Gucy2d C A 7: 98,108,209 (GRCm39) probably null Het
Hmcn1 C T 1: 150,479,562 (GRCm39) C4634Y probably damaging Het
Kctd5 A G 17: 24,278,194 (GRCm39) probably null Het
Kics2 T C 10: 121,581,280 (GRCm39) Y94H probably damaging Het
Mettl24 C A 10: 40,622,386 (GRCm39) H203N probably damaging Het
Mitf A G 6: 97,970,104 (GRCm39) E17G probably damaging Het
Mmut T A 17: 41,248,149 (GRCm39) W59R probably benign Het
Mrc1 G A 2: 14,312,720 (GRCm39) D881N probably benign Het
Mrm1 T C 11: 84,709,509 (GRCm39) T183A possibly damaging Het
Mylk G A 16: 34,605,344 (GRCm39) probably null Het
Nab2 G A 10: 127,500,936 (GRCm39) A19V probably damaging Het
Ntsr2 T A 12: 16,709,719 (GRCm39) Y333* probably null Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Tasp1 T C 2: 139,793,403 (GRCm39) K258E probably damaging Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Tenm4 G T 7: 96,555,088 (GRCm39) V2561F probably damaging Het
Tmc1 T C 19: 20,776,409 (GRCm39) Y650C probably damaging Het
Trim34b T C 7: 103,979,062 (GRCm39) L103P probably damaging Het
Usp47 T C 7: 111,662,600 (GRCm39) probably null Het
Vmn1r201 T A 13: 22,659,193 (GRCm39) W136R probably damaging Het
Vmn2r104 A T 17: 20,268,264 (GRCm39) Y68* probably null Het
Wscd2 T A 5: 113,689,192 (GRCm39) L66Q probably damaging Het
Other mutations in Sypl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Sypl2 APN 3 108,133,742 (GRCm39) start gained probably benign
R0147:Sypl2 UTSW 3 108,126,411 (GRCm39) missense possibly damaging 0.91
R0148:Sypl2 UTSW 3 108,126,411 (GRCm39) missense possibly damaging 0.91
R0512:Sypl2 UTSW 3 108,133,486 (GRCm39) missense possibly damaging 0.51
R0751:Sypl2 UTSW 3 108,124,072 (GRCm39) missense probably damaging 0.98
R1279:Sypl2 UTSW 3 108,124,990 (GRCm39) missense probably damaging 1.00
R3411:Sypl2 UTSW 3 108,124,045 (GRCm39) missense possibly damaging 0.94
R4085:Sypl2 UTSW 3 108,124,992 (GRCm39) missense possibly damaging 0.94
R4086:Sypl2 UTSW 3 108,124,992 (GRCm39) missense possibly damaging 0.94
R4088:Sypl2 UTSW 3 108,124,992 (GRCm39) missense possibly damaging 0.94
R4089:Sypl2 UTSW 3 108,124,992 (GRCm39) missense possibly damaging 0.94
R4090:Sypl2 UTSW 3 108,124,992 (GRCm39) missense possibly damaging 0.94
R7063:Sypl2 UTSW 3 108,124,971 (GRCm39) missense probably benign 0.31
R7571:Sypl2 UTSW 3 108,121,854 (GRCm39) makesense probably null
R7980:Sypl2 UTSW 3 108,125,008 (GRCm39) missense probably damaging 1.00
R8364:Sypl2 UTSW 3 108,125,050 (GRCm39) missense possibly damaging 0.62
R8558:Sypl2 UTSW 3 108,125,004 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCTCGTCCGAGTGAAATGTGAGC -3'
(R):5'- GTCCCGAATGTGTCTGATTCCGTC -3'

Sequencing Primer
(F):5'- TTGCACATAGAAGGTCCGAATC -3'
(R):5'- AATGTGTCTGATTCCGTCTCTCC -3'
Posted On 2013-04-24