|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2|
|Synonyms||Sip1, 0610011L07Rik, Sryip1, Nherf2, Octs2, Tka-1, Sip-1, E3karp, 2010007A20Rik, 1200011K07Rik|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7231 (G1)|
|Chromosomal Location||24639282-24650305 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 24650104 bp|
|Amino Acid Change||Arginine to Histidine at position 16 (R16H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000002572 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000002572]|
|Predicted Effect||probably damaging
AA Change: R16H
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: R16H
|Coding Region Coverage||
|Validation Efficiency||98% (78/80)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NHERF family of PDZ scaffolding proteins. These proteins mediate many cellular processes by binding to and regulating the membrane expression and protein-protein interactions of membrane receptors and transport proteins. The encoded protein plays a role in intestinal sodium absorption by regulating the activity of the sodium/hydrogen exchanger 3, and may also regulate the cystic fibrosis transmembrane regulator (CFTR) ion channel. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a null allele are viable, fertile and overtly normal and display normal cAMP- and cGMP-activated CFTR transepithelial chloride transport and bicarbonate secretion in the small intestine. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc9a3r2||
(F):5'- TTGTGCAGGACTGAGCTTCC -3'
(R):5'- AAGCAATCCCACTCCTTGG -3'
(F):5'- AGGACTGAGCTTCCTCACCAG -3'
(R):5'- CCACTCCTTGGTCCTAGGG -3'