Incidental Mutation 'IGL02712:Slc9a3r1'
ID 304624
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc9a3r1
Ensembl Gene ENSMUSG00000020733
Gene Name solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1
Synonyms sodium-hydrogen exchanger regulatory factor, NHE-RF, EBP-50, NHERF1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.234) question?
Stock # IGL02712
Quality Score
Chromosome 11
Chromosomal Location 115163341-115181181 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115177234 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 200 (V200A)
Ref Sequence ENSEMBL: ENSMUSP00000021077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021077]
AlphaFold P70441
Predicted Effect possibly damaging
Transcript: ENSMUST00000021077
AA Change: V200A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000021077
Gene: ENSMUSG00000020733
AA Change: V200A

PDZ 22 94 2.9e-20 SMART
PDZ 157 229 6.03e-18 SMART
Pfam:EBP50_C 230 355 1.4e-47 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angel1 A G 12: 86,722,839 probably benign Het
Arhgef33 T A 17: 80,360,373 V289D probably damaging Het
BC003331 A G 1: 150,386,356 probably null Het
Cabp5 A G 7: 13,403,346 M93V probably damaging Het
Ces1a A C 8: 93,036,040 V201G probably damaging Het
Cisd1 A G 10: 71,336,351 F34L probably benign Het
Cyp26a1 T C 19: 37,699,978 L316P probably damaging Het
Ddx39 A G 8: 83,721,757 I213V probably benign Het
Ddx59 A T 1: 136,439,781 N542I probably benign Het
Dytn T C 1: 63,664,422 T233A probably benign Het
Fbxo7 A G 10: 86,024,438 T49A possibly damaging Het
Fmnl2 C A 2: 53,036,498 probably benign Het
Golga2 G T 2: 32,304,213 K610N probably damaging Het
Hipk4 T C 7: 27,528,635 Y269H probably damaging Het
Ifi209 T C 1: 173,642,701 V285A possibly damaging Het
Ifna1 A G 4: 88,850,286 D67G probably benign Het
Map3k13 T G 16: 21,905,255 V329G probably damaging Het
Mrm3 T C 11: 76,243,857 W29R possibly damaging Het
Nos1ap T C 1: 170,329,251 I213V possibly damaging Het
Nphp4 C T 4: 152,556,275 T1033M probably damaging Het
Nr5a2 T C 1: 136,940,528 probably null Het
Nrcam A G 12: 44,573,827 Y885C probably damaging Het
Olfr23 T C 11: 73,940,930 V228A probably benign Het
Olfr983 T C 9: 40,092,786 H60R probably damaging Het
Ovgp1 T A 3: 105,986,513 probably benign Het
Pdzd2 T C 15: 12,376,027 S1341G probably benign Het
Pld2 T G 11: 70,557,079 L856R probably benign Het
Plod1 A G 4: 147,918,887 F494L possibly damaging Het
Pnkd T A 1: 74,349,868 S233T possibly damaging Het
Rnf144b T C 13: 47,239,779 I198T probably damaging Het
Rsc1a1 G T 4: 141,685,065 Q179K probably benign Het
Slc5a10 C T 11: 61,707,806 W249* probably null Het
Spata32 T G 11: 103,208,147 probably benign Het
Stk4 T A 2: 164,096,897 H228Q probably damaging Het
Szt2 T A 4: 118,384,833 Q1592L probably benign Het
Tnc T A 4: 63,975,256 I1598F probably damaging Het
Togaram2 A T 17: 71,704,754 D476V probably benign Het
Ttll6 T G 11: 96,139,775 probably benign Het
Vmn2r118 A G 17: 55,592,655 S750P probably benign Het
Zswim5 C T 4: 116,985,695 T879I probably damaging Het
Other mutations in Slc9a3r1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02340:Slc9a3r1 APN 11 115180032 missense probably benign 0.19
IGL02423:Slc9a3r1 APN 11 115163713 splice site probably null
R2129:Slc9a3r1 UTSW 11 115176444 missense probably damaging 1.00
R2366:Slc9a3r1 UTSW 11 115163628 missense probably benign 0.01
R2939:Slc9a3r1 UTSW 11 115180444 missense probably damaging 1.00
R4820:Slc9a3r1 UTSW 11 115180092 missense probably benign 0.01
R4960:Slc9a3r1 UTSW 11 115176463 missense probably benign
R5307:Slc9a3r1 UTSW 11 115163761 missense probably damaging 1.00
R7334:Slc9a3r1 UTSW 11 115163767 missense possibly damaging 0.86
Posted On 2015-04-16