|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 9 (sodium/hydrogen exchanger), member 2|
|Synonyms||2210416H12Rik, 4932415O19Rik, NHE2|
|Is this an essential gene?||Probably non essential (E-score: 0.067)|
|Stock #||R0374 (G1)|
|Chromosomal Location||40680574-40769273 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 40743857 bp|
|Amino Acid Change||Phenylalanine to Serine at position 427 (F427S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027231 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027231]|
|Predicted Effect||possibly damaging
AA Change: F427S
PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: F427S
|Meta Mutation Damage Score||0.1220|
|Coding Region Coverage||
|Validation Efficiency||99% (69/70)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sodium-hydrogen exchanger (NHE) protein family. These proteins are involved in sodium-ion transport by exchanging intracellular hydrogen ions to external sodium ions and help in the regulation of cell pH and volume. The encoded protein is localized to the apical membrane and is involved in apical absorption of sodium. [provided by RefSeq, Jun 2016]
PHENOTYPE: Gastric acid secretion is impaired in homozygous mutant mice. The gastric mucosa becomes inflamed and exhibits an altered cellular composition. Mutant mice do not breed well. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc9a2||
(F):5'- AAGAGTCCCCAGTGTTTGCAGTTC -3'
(R):5'- TTCCCTCTGTGAGACCAAGTGACC -3'
(F):5'- TGCAGTTCAGGGGTCCAG -3'
(R):5'- TTGCACATCTCCTGCTAAAGAGAG -3'