|Institutional Source||Beutler Lab|
|Gene Name||stonin 2|
|Is this an essential gene?||Possibly non essential (E-score: 0.452)|
|Stock #||R4569 (G1)|
|Chromosomal Location||91633009-91788387 bp(-) (GRCm38)|
|Type of Mutation||makesense|
|DNA Base Change (assembly)||T to A at 91639722 bp|
|Amino Acid Change||Stop codon to Cysteine at position 896 (*896C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000053908 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000052969] [ENSMUST00000164713]|
|Predicted Effect||probably null
AA Change: *896C
AA Change: *896C
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||99% (87/88)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is a membrane protein involved in regulating endocytotic complexes. The protein product is described as one of the clathrin-associated sorting proteins, adaptor molecules which ensure specific proteins are internalized. The encoded protein has also been shown to participate in synaptic vesicle recycling through interaction with synaptotagmin 1 required for neurotransmission. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit compromised endocytic synaptic vesicle sorting fidelity, hyperactivity and abnormal response to novel object. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ston2||
(F):5'- TAGTAAACTCCAGAAGCCGGG -3'
(R):5'- TCCAGGCAATTCCACAGGAC -3'
(F):5'- TTCAGGCATGCTCAGTGC -3'
(R):5'- AATTCCACAGGACCTCCGGG -3'