|Institutional Source||Beutler Lab|
|Gene Name||sorting nexin 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5450 (G1)|
|Chromosomal Location||53176365-53220860 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 53210712 bp|
|Amino Acid Change||Lysine to Arginine at position 309 (K309R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000039243 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000037850]|
|Predicted Effect||probably damaging
AA Change: K309R
PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: K309R
|Meta Mutation Damage Score||0.1711|
|Coding Region Coverage||
|Validation Efficiency||97% (74/76)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the sorting nexin family whose members contain the phosphoinositide-binding phox (PX) domain. The encoded protein is a component of the retromer complex which plays a role in protein sorting in the endocytic pathway. This protein may form oligomeric complexes with other family members. Alternate splicing results in multiple transcript variants of this gene. Pseudogenes associated with this gene are located on chromosomes 1 and 7. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygous mutant mice are viable and fertile and do not exhibit any apparent abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Snx2||
(F):5'- CTTATTGAGTTCAGTTCTCAGCTAC -3'
(R):5'- TTCTGTTTTGAGACAGCCTAGC -3'
(F):5'- TACATCAGTTGACCACCGTGG -3'
(R):5'- TTTTGAGACAGCCTAGCGTCAGAC -3'