Incidental Mutation 'R0909:Vsnl1'
ID 83436
Institutional Source Beutler Lab
Gene Symbol Vsnl1
Ensembl Gene ENSMUSG00000054459
Gene Name visinin-like 1
Synonyms VILIP
MMRRC Submission 039067-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.433) question?
Stock # R0909 (G1)
Quality Score 150
Status Not validated
Chromosome 12
Chromosomal Location 11375258-11486579 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11376372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 171 (F171S)
Ref Sequence ENSEMBL: ENSMUSP00000152711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072299] [ENSMUST00000220506]
AlphaFold P62761
Predicted Effect probably damaging
Transcript: ENSMUST00000072299
AA Change: F171S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072145
Gene: ENSMUSG00000054459
AA Change: F171S

DomainStartEndE-ValueType
EFh 64 92 2.13e-5 SMART
EFh 100 128 5.24e-5 SMART
EFh 150 178 2.09e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000220506
AA Change: F171S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.4%
  • 20x: 91.5%
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 visinin/recoverin subfamily of neuronal calcium sensor proteins. The encoded protein is strongly expressed in granule cells of the cerebellum where it associates with membranes in a calcium-dependent manner and modulates intracellular signaling pathways of the central nervous system by directly or indirectly regulating the activity of adenylyl cyclase. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik T A 19: 3,765,788 (GRCm39) M21K probably benign Het
Ap3s2 T C 7: 79,530,266 (GRCm39) N183S probably benign Het
Cd109 A G 9: 78,543,755 (GRCm39) I100V probably benign Het
Cep170b A G 12: 112,698,473 (GRCm39) K77R probably null Het
Chmp5 C A 4: 40,960,968 (GRCm39) N202K probably benign Het
Cnbd1 A T 4: 19,122,444 (GRCm39) L15I probably benign Het
Ehmt2 T C 17: 35,125,480 (GRCm39) V542A possibly damaging Het
Exosc9 A T 3: 36,608,853 (GRCm39) I151F probably damaging Het
Eya2 A G 2: 165,596,413 (GRCm39) N308S probably benign Het
Fbxw21 C A 9: 108,985,476 (GRCm39) A101S possibly damaging Het
Frem3 A C 8: 81,390,035 (GRCm39) N1762T probably benign Het
H2-DMb2 C A 17: 34,367,783 (GRCm39) T68N probably benign Het
Hbs1l A G 10: 21,183,637 (GRCm39) E126G probably benign Het
Lrrc2 T A 9: 110,791,741 (GRCm39) probably null Het
Mrpl44 G A 1: 79,757,370 (GRCm39) V272I probably benign Het
Msh4 G A 3: 153,569,141 (GRCm39) L723F probably benign Het
Nemf T A 12: 69,388,384 (GRCm39) D329V probably damaging Het
Noxa1 A T 2: 24,981,806 (GRCm39) L99Q probably damaging Het
Nr6a1 A T 2: 38,775,218 (GRCm39) D44E probably benign Het
Obscn T C 11: 58,965,890 (GRCm39) D3131G probably damaging Het
Or10a5 T C 7: 106,635,401 (GRCm39) I13T probably benign Het
Or10c1 T G 17: 37,521,809 (GRCm39) I312L probably benign Het
Or52p2 A T 7: 102,237,654 (GRCm39) C99S probably damaging Het
Pkhd1l1 T A 15: 44,402,279 (GRCm39) probably null Het
Rbsn G A 6: 92,166,791 (GRCm39) Q618* probably null Het
Rccd1 A C 7: 79,968,799 (GRCm39) probably null Het
Scg2 T A 1: 79,413,499 (GRCm39) Q368L possibly damaging Het
Socs5 T A 17: 87,441,201 (GRCm39) L47Q probably benign Het
Ttc16 T C 2: 32,652,880 (GRCm39) T593A probably benign Het
Ube4a T C 9: 44,851,271 (GRCm39) I748V probably damaging Het
Vipas39 T C 12: 87,288,105 (GRCm39) D435G probably benign Het
Vmn2r69 C T 7: 85,055,873 (GRCm39) G755D probably benign Het
Wbp2nl G A 15: 82,198,275 (GRCm39) A271T probably benign Het
Other mutations in Vsnl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00553:Vsnl1 APN 12 11,382,190 (GRCm39) missense probably damaging 0.96
IGL02285:Vsnl1 APN 12 11,436,878 (GRCm39) missense probably damaging 1.00
IGL02610:Vsnl1 APN 12 11,382,072 (GRCm39) nonsense probably null
PIT4696001:Vsnl1 UTSW 12 11,376,448 (GRCm39) missense probably benign 0.23
R0055:Vsnl1 UTSW 12 11,436,987 (GRCm39) splice site probably null
R0598:Vsnl1 UTSW 12 11,436,860 (GRCm39) missense probably benign
R1444:Vsnl1 UTSW 12 11,382,219 (GRCm39) critical splice acceptor site probably null
R4256:Vsnl1 UTSW 12 11,382,056 (GRCm39) nonsense probably null
R6315:Vsnl1 UTSW 12 11,382,156 (GRCm39) missense probably damaging 1.00
R6489:Vsnl1 UTSW 12 11,382,219 (GRCm39) critical splice acceptor site probably benign
R6582:Vsnl1 UTSW 12 11,376,489 (GRCm39) missense probably benign 0.01
R7422:Vsnl1 UTSW 12 11,376,439 (GRCm39) missense probably benign 0.00
R7909:Vsnl1 UTSW 12 11,376,455 (GRCm39) missense probably benign 0.00
R7919:Vsnl1 UTSW 12 11,382,087 (GRCm39) missense possibly damaging 0.68
R8772:Vsnl1 UTSW 12 11,382,180 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTACAGGAGAATGGTGACGCAGCC -3'
(R):5'- GAGACAAGCAGAGCAAACTCTCTGG -3'

Sequencing Primer
(F):5'- gtgtggggtgtggggtg -3'
(R):5'- AGAGCAAACTCTCTGGCTTCC -3'
Posted On 2013-11-08