|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1|
|Synonyms||sodium-hydrogen exchanger regulatory factor, NHE-RF, EBP-50, NHERF1|
|Is this an essential gene?||Probably non essential (E-score: 0.218)|
|Stock #||R2129 (G1)|
|Chromosomal Location||115163341-115181181 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 115176444 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 174 (I174F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021077 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021077]|
|Predicted Effect||probably damaging
AA Change: I174F
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: I174F
|Meta Mutation Damage Score||0.164|
|Coding Region Coverage||
|Validation Efficiency||99% (91/92)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sodium/hydrogen exchanger regulatory cofactor. The protein interacts with and regulates various proteins including the cystic fibrosis transmembrane conductance regulator and G-protein coupled receptors such as the beta2-adrenergic receptor and the parathyroid hormone 1 receptor. The protein also interacts with proteins that function as linkers between integral membrane and cytoskeletal proteins. The protein localizes to actin-rich structures including membrane ruffles, microvilli, and filopodia. Mutations in this gene result in hypophosphatemic nephrolithiasis/osteoporosis type 2, and loss of heterozygosity of this gene is implicated in breast cancer.[provided by RefSeq, Sep 2009]
PHENOTYPE: For one allele homozygous null mice exhibit renal phosphate wasting, reduced fertility and high female mortality rate at birth and postnatally. For a second allele homozygous null mice exhibit hypophosphatemia, increased intestinal goblet cell numbers and abnormal intestinal epithelial cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc9a3r1||
(F):5'- TCTCCGGTCACCATTGGATC -3'
(R):5'- TCCTAGCATCTCTGTGCTGG -3'
(F):5'- CCAAATCCTTCTAGGTGGGGAG -3'
(R):5'- GTGCTGGCCATTTCCCATG -3'