|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 5 (choline transporter), member 7|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5152 (G1)|
|Chromosomal Location||54273594-54299034 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 54278833 bp|
|Amino Acid Change||Isoleucine to Valine at position 319 (I319V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000093379 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000095712]|
|Predicted Effect||possibly damaging
AA Change: I319V
PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: I319V
|Meta Mutation Damage Score||0.0931|
|Coding Region Coverage||
|Validation Efficiency||99% (83/84)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sodium ion- and chloride ion-dependent high-affinity transporter that mediates choline uptake for acetylcholine synthesis in cholinergic neurons. The protein transports choline from the extracellular space into presynaptic terminals for synthesis into acetylcholine. Increased choline uptake results from increased density of this protein in synaptosomal plasma membranes in response to depolarization of cholinergic terminals. Dysfunction of cholinergic signaling has been implicated in various disorders including depression, attention-deficit disorder, and schizophrenia. An allelic variant of this gene is associated with autosomal dominant distal hereditary motor neuronopathy type VIIA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
PHENOTYPE: Homozygous null mice display neonatal lethality with respiratory failure, hyporesponsiveness to touch, inability to sustain acetylcholine release, and abnormal neuromuscular junction morphology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc5a7||
(F):5'- CAATGGCAACGACTACTAGTACTAC -3'
(R):5'- CCTGAACGCTATCAATATTCGCTG -3'
(F):5'- TGACAGATTAAAAGGCTGGCC -3'
(R):5'- TATCAATATTCGCTGGACCCAGG -3'