|Institutional Source||Beutler Lab|
|Gene Name||hippocalcin-like 1|
|Synonyms||Vnsl3, neural visinin-like 3, VILIP3, visinin like 3, Nvp3|
|Is this an essential gene?||Probably non essential (E-score: 0.092)|
|Stock #||R7957 (G1)|
|Chromosomal Location||17690856-17791933 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 17791170 bp|
|Amino Acid Change||Leucine to Glutamine at position 183 (L183Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000071756 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000071858] [ENSMUST00000222944]|
|Predicted Effect||probably damaging
AA Change: L183Q
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L183Q
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.8881|
|Coding Region Coverage||
|Validation Efficiency||98% (46/47)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. It is highly similar to human hippocalcin protein and nearly identical to the rat and mouse hippocalcin like-1 proteins. It may be involved in the calcium-dependent regulation of rhodopsin phosphorylation and may be of relevance for neuronal signalling in the central nervous system. Several alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2012]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hpcal1||
(F):5'- TGTGGCTAGCAGCTTACTTCATG -3'
(R):5'- AACCATTGGAAGGAGCCAGC -3'
(F):5'- ACATGTGTGCCTCAACATGG -3'
(R):5'- ACAGTTGGCCAGGTCAGG -3'