Incidental Mutation 'R6582:Vsnl1'
ID 524176
Institutional Source Beutler Lab
Gene Symbol Vsnl1
Ensembl Gene ENSMUSG00000054459
Gene Name visinin-like 1
Synonyms VILIP
MMRRC Submission 044706-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.413) question?
Stock # R6582 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 11375258-11486579 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11376489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 132 (V132A)
Ref Sequence ENSEMBL: ENSMUSP00000152711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072299] [ENSMUST00000220506]
AlphaFold P62761
Predicted Effect probably benign
Transcript: ENSMUST00000072299
AA Change: V132A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000072145
Gene: ENSMUSG00000054459
AA Change: V132A

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 benign
Transcript: ENSMUST00000220506
AA Change: V132A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Meta Mutation Damage Score 0.1476 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
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 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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,297,384 (GRCm39) T2369A probably benign Het
Abhd6 T G 14: 8,042,828 (GRCm38) probably null Het
Abhd6 G T 14: 8,042,826 (GRCm38) G128C probably damaging Het
Acsm3 A G 7: 119,378,896 (GRCm39) E426G probably benign Het
Ankrd11 T C 8: 123,618,368 (GRCm39) D1828G probably benign Het
Asmt T A X: 169,108,766 (GRCm39) probably null Het
Casp4 A G 9: 5,324,884 (GRCm39) Q232R probably benign Het
Cenpt A T 8: 106,575,833 (GRCm39) L171* probably null Het
Chd3 AGCGGCGGCGGCGGCGGCGG AGCGGCGGCGGCGGCGG 11: 69,259,982 (GRCm39) probably benign Het
Col5a2 G T 1: 45,429,275 (GRCm39) H948N possibly damaging Het
Dnah9 G T 11: 65,951,923 (GRCm39) H1859N probably damaging Het
Dscaml1 G A 9: 45,664,104 (GRCm39) R1993Q probably benign Het
Fbxw8 C A 5: 118,263,028 (GRCm39) R217L probably benign Het
Flnb T G 14: 7,892,275 (GRCm38) probably null Het
Fyb2 A G 4: 104,802,739 (GRCm39) N214D probably benign Het
Gbp2b A G 3: 142,316,801 (GRCm39) E484G possibly damaging Het
Gzmk A G 13: 113,317,045 (GRCm39) Y45H probably damaging Het
Ivl CCTGCTGCTGCTGCT CCTGCTGCTGCT 3: 92,479,217 (GRCm39) probably benign Het
Kcnj6 A G 16: 94,633,685 (GRCm39) V142A possibly damaging Het
Klri2 A T 6: 129,716,096 (GRCm39) I81K possibly damaging Het
Lama3 T A 18: 12,710,897 (GRCm39) V3144E probably damaging Het
Mark1 G A 1: 184,644,786 (GRCm39) S390L possibly damaging Het
Mbd3l1 T C 9: 18,396,024 (GRCm39) Y50H probably benign Het
Mcat T C 15: 83,433,383 (GRCm39) N220S probably benign Het
Muc2 A G 7: 141,282,941 (GRCm39) E81G probably benign Het
Neto1 A T 18: 86,512,985 (GRCm39) K327* probably null Het
Or10j3 G T 1: 173,031,847 (GRCm39) R308L probably benign Het
Or4a67 A T 2: 88,598,587 (GRCm39) L24Q probably damaging Het
Or52p1 A T 7: 104,267,648 (GRCm39) Y254F probably damaging Het
Or52u1 T C 7: 104,237,218 (GRCm39) L69P probably damaging Het
Pidd1 A T 7: 141,019,494 (GRCm39) V722D probably damaging Het
Ppp2r2a G T 14: 67,257,253 (GRCm39) H326N probably damaging Het
Smarca5 G A 8: 81,446,281 (GRCm39) T473I probably damaging Het
Spg11 C A 2: 121,922,773 (GRCm39) W892L probably damaging Het
Tas2r110 T A 6: 132,845,248 (GRCm39) I93N possibly damaging Het
Tiam2 CGGG CGGGG 17: 3,464,897 (GRCm39) probably null Het
Vmn1r71 T A 7: 10,482,608 (GRCm39) I27F probably benign Het
Wdsub1 T C 2: 59,708,652 (GRCm39) T74A probably damaging Het
Ywhaz T C 15: 36,791,166 (GRCm39) Y19C probably damaging 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
R0909:Vsnl1 UTSW 12 11,376,372 (GRCm39) missense probably damaging 1.00
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
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'- CAAGACTTGTGTGCAGTCCATAG -3'
(R):5'- GGTTGCCATGGGAACTTAGAAC -3'

Sequencing Primer
(F):5'- TGTGCAGTCCATAGCATCGAC -3'
(R):5'- TGCCATGGGAACTTAGAACTTGGG -3'
Posted On 2018-06-22