|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2|
|Synonyms||sodium/dicarboxylate co-transporter, Nadc1, mNaDC-1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5014 (G1)|
|Chromosomal Location||78397087-78422217 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 78400161 bp|
|Amino Acid Change||Lysine to Glutamic Acid at position 406 (K406E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001122 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001122]|
|Predicted Effect||possibly damaging
AA Change: K406E
PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: K406E
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.2065|
|Coding Region Coverage||
|Validation Efficiency||97% (83/86)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a sodium-coupled citrate transporter that is regulated by the chaperone activity of cyclophilin b. The encoded protein may play a role in the formation of kidney stones. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased Kreb cycle intermediates in the urine but otherwise have normal kidney function and response to ischemia-reperfusion injury and caloric restriction. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc13a2||
(F):5'- TCATCGCTGAGAGGACTACTC -3'
(R):5'- GGTGACCTGCTAAAGACACAGG -3'
(F):5'- GAGGACTACTCTCCTTTGGGC -3'
(R):5'- CTCAAGGACAGAGTTGGAATCCTAC -3'