Incidental Mutation 'IGL02676:Slc9a3r2'
ID303152
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc9a3r2
Ensembl Gene ENSMUSG00000002504
Gene Namesolute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2
SynonymsSip1, 0610011L07Rik, Sryip1, Nherf2, Octs2, Tka-1, Sip-1, E3karp, 2010007A20Rik, 1200011K07Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02676
Quality Score
Status
Chromosome17
Chromosomal Location24639282-24650305 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 24641956 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 204 (V204E)
Ref Sequence ENSEMBL: ENSMUSP00000002572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002572] [ENSMUST00000019684] [ENSMUST00000047611]
Predicted Effect probably damaging
Transcript: ENSMUST00000002572
AA Change: V204E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000002572
Gene: ENSMUSG00000002504
AA Change: V204E

DomainStartEndE-ValueType
PDZ 19 91 6.31e-21 SMART
PDZ 159 231 8.79e-20 SMART
Pfam:EBP50_C 232 284 5.1e-13 PFAM
Pfam:EBP50_C 261 337 2.3e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000019684
AA Change: V93E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000019684
Gene: ENSMUSG00000002504
AA Change: V93E

DomainStartEndE-ValueType
PDZ 48 120 8.79e-20 SMART
Pfam:EBP50_C-term 186 226 2.7e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000047611
SMART Domains Protein: ENSMUSP00000047413
Gene: ENSMUSG00000041429

DomainStartEndE-ValueType
low complexity region 9 20 N/A INTRINSIC
low complexity region 24 37 N/A INTRINSIC
low complexity region 55 68 N/A INTRINSIC
ENDO3c 126 276 1.06e-58 SMART
FES 277 297 4.82e-3 SMART
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 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
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc G A 18: 34,315,634 S1827N probably damaging Het
Atrnl1 T A 19: 57,691,884 C739S probably damaging Het
Cep350 T C 1: 155,862,231 E2622G possibly damaging Het
Chd5 C T 4: 152,356,073 probably benign Het
Chst11 T A 10: 83,191,729 L330Q probably damaging Het
Clcnka A T 4: 141,392,783 V275E probably damaging Het
Clip4 G A 17: 71,828,621 S456N probably damaging Het
Cmya5 A T 13: 93,092,853 I1909N probably damaging Het
Cyp26b1 A G 6: 84,576,644 I176T probably damaging Het
Dst A G 1: 34,307,587 R7717G probably damaging Het
Eml2 C T 7: 19,184,921 R99* probably null Het
Fibin T C 2: 110,362,584 Q71R probably benign Het
Fsip2 T G 2: 82,982,157 I2940S possibly damaging Het
Gabrb3 G T 7: 57,591,364 probably benign Het
Gfra1 G A 19: 58,453,355 T48I probably damaging Het
Gm13083 T C 4: 143,616,097 F258S possibly damaging Het
Gm6205 A G 5: 94,683,871 T246A possibly damaging Het
Gm6483 C T 8: 19,693,659 noncoding transcript Het
Hdgfl1 G A 13: 26,769,365 R242C possibly damaging Het
Hmcn1 T C 1: 150,619,009 T4110A probably benign Het
Lama2 T G 10: 27,118,493 M1807L probably benign Het
Larp4 T C 15: 99,990,421 V113A possibly damaging Het
Mkx T C 18: 7,000,640 T101A probably benign Het
Nfe2l1 A G 11: 96,827,665 F15L probably damaging Het
Nif3l1 G A 1: 58,455,736 probably null Het
Nop14 A G 5: 34,639,221 V764A probably damaging Het
Nosip C A 7: 45,077,328 A259E probably damaging Het
Ntn5 T C 7: 45,691,876 probably benign Het
Olfr1016 T C 2: 85,799,590 I227V possibly damaging Het
Phospho1 G A 11: 95,830,888 G128D probably damaging Het
Ppp4r3a G A 12: 101,042,511 T703M probably benign Het
Prdm8 G A 5: 98,186,559 E662K probably damaging Het
Ralgapa1 A G 12: 55,676,417 S1775P probably damaging Het
Rapgef6 T C 11: 54,649,346 probably benign Het
Rasef T C 4: 73,759,729 T87A possibly damaging Het
Scrn3 A G 2: 73,329,871 Q286R probably benign Het
Sema3d A T 5: 12,570,978 Q517L probably benign Het
Taf6l T C 19: 8,775,049 Y425C probably damaging Het
Tbk1 T C 10: 121,568,080 N254S possibly damaging Het
Tcf3 C T 10: 80,421,091 G64R probably damaging Het
Tmco4 T C 4: 139,023,069 probably null Het
Trappc11 A G 8: 47,493,413 probably benign Het
Vmn1r19 A T 6: 57,405,040 I193F possibly damaging Het
Vmn2r14 G A 5: 109,220,016 T370I probably benign Het
Vmn2r65 T A 7: 84,940,173 H845L possibly damaging Het
Vmn2r98 A T 17: 19,065,259 T114S probably benign Het
Zfp280d A T 9: 72,335,074 R661S probably damaging Het
Zranb1 T C 7: 132,966,681 I356T probably benign Het
Other mutations in Slc9a3r2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1843:Slc9a3r2 UTSW 17 24641719 missense possibly damaging 0.75
R2199:Slc9a3r2 UTSW 17 24640596 missense probably null 0.37
R2912:Slc9a3r2 UTSW 17 24642241 missense probably damaging 1.00
R4774:Slc9a3r2 UTSW 17 24644899 start codon destroyed probably null 0.01
R5352:Slc9a3r2 UTSW 17 24642255 missense probably damaging 1.00
R5356:Slc9a3r2 UTSW 17 24641971 missense probably damaging 1.00
R5562:Slc9a3r2 UTSW 17 24641824 missense probably benign 0.06
R5841:Slc9a3r2 UTSW 17 24644877 missense probably benign
R7231:Slc9a3r2 UTSW 17 24650104 missense probably damaging 1.00
R7338:Slc9a3r2 UTSW 17 24650208 start gained probably benign
R7539:Slc9a3r2 UTSW 17 24641899 missense probably damaging 0.99
R8276:Slc9a3r2 UTSW 17 24642260 nonsense probably null
Posted On2015-04-16