Incidental Mutation 'R8837:Slc9a3'
ID 674239
Institutional Source Beutler Lab
Gene Symbol Slc9a3
Ensembl Gene ENSMUSG00000036123
Gene Name solute carrier family 9 (sodium/hydrogen exchanger), member 3
Synonyms 9030624O13Rik, NHE-3, NHE3
MMRRC Submission 068665-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8837 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 74121457-74169442 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 74157704 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 280 (I280N)
Ref Sequence ENSEMBL: ENSMUSP00000038142 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036208] [ENSMUST00000221703] [ENSMUST00000225423]
AlphaFold G3X939
Predicted Effect probably damaging
Transcript: ENSMUST00000036208
AA Change: I280N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: I280N

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Na_H_Exchanger 53 457 3.6e-87 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000221703
AA Change: I280N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect possibly damaging
Transcript: ENSMUST00000225423
AA Change: I280N

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an epithelial brush border Na/H exchanger that uses an inward sodium ion gradient to expel acids from the cell. Defects in this gene are a cause of congenital secretory sodium diarrhea. Pseudogenes of this gene exist on chromosomes 10 and 22. [provided by RefSeq, Mar 2016]
PHENOTYPE: Homozygous mutant mice have diarrhea associated with defects of renal and intestinal absorption. Males are infertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T G 5: 8,936,873 (GRCm38) F764C probably damaging Het
Aff1 A G 5: 103,834,212 (GRCm38) D739G possibly damaging Het
Atp1a3 T C 7: 24,978,555 (GRCm38) Y1012C probably damaging Het
Btbd10 T C 7: 113,329,926 (GRCm38) T206A probably benign Het
Capn8 G T 1: 182,628,634 (GRCm38) A650S possibly damaging Het
Catsper1 A C 19: 5,336,042 (GRCm38) N101T probably damaging Het
Cdh23 A C 10: 60,324,976 (GRCm38) S2070R probably benign Het
Cep350 A G 1: 155,861,772 (GRCm38) V2775A probably benign Het
Clybl G A 14: 122,181,782 (GRCm38) probably null Het
Cog4 T A 8: 110,852,372 (GRCm38) N148K probably benign Het
Dbnl G A 11: 5,791,839 (GRCm38) G44D possibly damaging Het
Dgcr2 A T 16: 17,849,766 (GRCm38) N276K possibly damaging Het
Dnah9 T A 11: 65,855,234 (GRCm38) T4018S possibly damaging Het
Dock3 A G 9: 106,897,340 (GRCm38) L72P probably benign Het
Fabp4 T C 3: 10,206,045 (GRCm38) T51A probably benign Het
Fam214b A G 4: 43,034,531 (GRCm38) S355P probably damaging Het
Fars2 T A 13: 36,246,426 (GRCm38) I279N probably damaging Het
Fas A T 19: 34,318,649 (GRCm38) Q164L probably benign Het
Focad A G 4: 88,154,668 (GRCm38) K107E probably damaging Het
Gga3 G A 11: 115,588,479 (GRCm38) S338L probably benign Het
Grip1 A G 10: 119,930,035 (GRCm38) R91G probably damaging Het
Igkv3-7 A G 6: 70,607,958 (GRCm38) D94G possibly damaging Het
Kank3 G C 17: 33,817,653 (GRCm38) R165P probably damaging Het
Kmt2d A T 15: 98,864,167 (GRCm38) L434Q unknown Het
Krt18 A G 15: 102,029,830 (GRCm38) T163A possibly damaging Het
Lcn10 T A 2: 25,685,286 (GRCm38) probably benign Het
Lrrc37a G T 11: 103,503,969 (GRCm38) P210Q probably benign Het
Lyst T A 13: 13,677,963 (GRCm38) S2183T probably benign Het
Mga G A 2: 119,938,791 (GRCm38) probably benign Het
Myh9 G A 15: 77,776,937 (GRCm38) A818V possibly damaging Het
Olfr344 T C 2: 36,568,691 (GRCm38) I31T probably benign Het
Olfr906 A T 9: 38,488,301 (GRCm38) I91F probably benign Het
Olfr98 G T 17: 37,262,916 (GRCm38) Y249* probably null Het
Pde7b A G 10: 20,438,723 (GRCm38) probably null Het
Pik3cb A T 9: 99,054,064 (GRCm38) Y772N possibly damaging Het
Ppl C G 16: 5,088,990 (GRCm38) R1147P probably damaging Het
Prl3d2 A T 13: 27,123,943 (GRCm38) D69V probably benign Het
Psd3 A G 8: 67,719,944 (GRCm38) F871L probably damaging Het
Rlf G A 4: 121,188,235 (GRCm38) P152S probably benign Het
Rpa1 T C 11: 75,313,341 (GRCm38) E270G possibly damaging Het
Scfd2 T C 5: 74,530,995 (GRCm38) T209A probably benign Het
Scn11a A G 9: 119,792,344 (GRCm38) L669P probably damaging Het
Sec31b A T 19: 44,517,667 (GRCm38) C933* probably null Het
Serpina3k G T 12: 104,343,033 (GRCm38) M245I probably benign Het
Soat1 A G 1: 156,434,202 (GRCm38) V412A probably damaging Het
Spata31d1a A T 13: 59,702,782 (GRCm38) S511T possibly damaging Het
Sphkap A T 1: 83,275,663 (GRCm38) V1455E possibly damaging Het
Spns1 G A 7: 126,372,421 (GRCm38) S319F possibly damaging Het
Tbxas1 G T 6: 39,071,430 (GRCm38) M403I Het
Tln2 A T 9: 67,250,584 (GRCm38) C1158S probably damaging Het
Tnrc18 T C 5: 142,793,056 (GRCm38) T98A possibly damaging Het
Ttc23 T C 7: 67,669,746 (GRCm38) L118P probably damaging Het
Tyr T A 7: 87,438,015 (GRCm38) I430L probably damaging Het
Uck2 A G 1: 167,243,146 (GRCm38) F5L probably benign Het
Ush2a G A 1: 188,753,650 (GRCm38) V2986I probably benign Het
Vmn2r96 A G 17: 18,582,626 (GRCm38) D266G probably benign Het
Wdr34 T C 2: 30,038,362 (GRCm38) D84G probably benign Het
Yrdc A G 4: 124,853,884 (GRCm38) D213G probably benign Het
Zfp612 C A 8: 110,088,971 (GRCm38) T270K probably damaging Het
Other mutations in Slc9a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Slc9a3 APN 13 74,160,302 (GRCm38) missense probably benign 0.19
IGL01299:Slc9a3 APN 13 74,160,263 (GRCm38) missense probably benign 0.33
IGL01390:Slc9a3 APN 13 74,150,761 (GRCm38) missense probably benign 0.01
IGL01814:Slc9a3 APN 13 74,165,972 (GRCm38) missense probably damaging 0.96
IGL02020:Slc9a3 APN 13 74,158,848 (GRCm38) missense probably damaging 0.99
IGL02072:Slc9a3 APN 13 74,165,859 (GRCm38) missense probably benign 0.00
IGL02186:Slc9a3 APN 13 74,163,114 (GRCm38) missense possibly damaging 0.94
IGL02878:Slc9a3 APN 13 74,165,357 (GRCm38) nonsense probably null
IGL03056:Slc9a3 APN 13 74,150,819 (GRCm38) missense probably damaging 1.00
R0090:Slc9a3 UTSW 13 74,158,728 (GRCm38) missense probably damaging 0.99
R0280:Slc9a3 UTSW 13 74,159,424 (GRCm38) missense probably damaging 1.00
R0359:Slc9a3 UTSW 13 74,157,607 (GRCm38) missense probably damaging 1.00
R0388:Slc9a3 UTSW 13 74,121,536 (GRCm38) missense unknown
R0396:Slc9a3 UTSW 13 74,157,784 (GRCm38) critical splice donor site probably null
R0893:Slc9a3 UTSW 13 74,159,246 (GRCm38) missense probably damaging 1.00
R1169:Slc9a3 UTSW 13 74,150,743 (GRCm38) missense probably damaging 0.98
R1640:Slc9a3 UTSW 13 74,158,818 (GRCm38) missense probably damaging 1.00
R1769:Slc9a3 UTSW 13 74,163,071 (GRCm38) missense probably benign 0.00
R1850:Slc9a3 UTSW 13 74,161,770 (GRCm38) missense probably benign 0.34
R1937:Slc9a3 UTSW 13 74,166,056 (GRCm38) splice site probably null
R2048:Slc9a3 UTSW 13 74,163,741 (GRCm38) missense probably damaging 1.00
R2146:Slc9a3 UTSW 13 74,121,603 (GRCm38) missense probably benign 0.00
R2495:Slc9a3 UTSW 13 74,158,703 (GRCm38) missense probably damaging 0.99
R2883:Slc9a3 UTSW 13 74,158,760 (GRCm38) missense probably damaging 1.00
R2938:Slc9a3 UTSW 13 74,121,669 (GRCm38) missense possibly damaging 0.62
R4538:Slc9a3 UTSW 13 74,161,732 (GRCm38) missense possibly damaging 0.56
R4580:Slc9a3 UTSW 13 74,158,886 (GRCm38) nonsense probably null
R4581:Slc9a3 UTSW 13 74,164,165 (GRCm38) missense probably damaging 0.99
R4841:Slc9a3 UTSW 13 74,165,837 (GRCm38) missense probably damaging 1.00
R4928:Slc9a3 UTSW 13 74,157,719 (GRCm38) missense probably damaging 1.00
R4965:Slc9a3 UTSW 13 74,164,293 (GRCm38) missense possibly damaging 0.62
R5079:Slc9a3 UTSW 13 74,164,287 (GRCm38) missense probably damaging 0.97
R5329:Slc9a3 UTSW 13 74,150,960 (GRCm38) missense possibly damaging 0.94
R5663:Slc9a3 UTSW 13 74,163,712 (GRCm38) missense probably damaging 0.98
R5876:Slc9a3 UTSW 13 74,161,723 (GRCm38) missense probably damaging 1.00
R5919:Slc9a3 UTSW 13 74,158,740 (GRCm38) missense probably damaging 0.98
R6060:Slc9a3 UTSW 13 74,150,885 (GRCm38) missense probably damaging 1.00
R6562:Slc9a3 UTSW 13 74,155,161 (GRCm38) missense probably damaging 1.00
R6645:Slc9a3 UTSW 13 74,164,172 (GRCm38) missense probably damaging 0.99
R7145:Slc9a3 UTSW 13 74,150,678 (GRCm38) missense probably damaging 0.99
R7422:Slc9a3 UTSW 13 74,150,885 (GRCm38) missense probably damaging 1.00
R7565:Slc9a3 UTSW 13 74,157,694 (GRCm38) missense probably damaging 1.00
R7679:Slc9a3 UTSW 13 74,160,276 (GRCm38) missense possibly damaging 0.88
R8032:Slc9a3 UTSW 13 74,157,644 (GRCm38) missense probably damaging 1.00
R8080:Slc9a3 UTSW 13 74,166,027 (GRCm38) missense probably benign 0.30
R8158:Slc9a3 UTSW 13 74,155,122 (GRCm38) missense probably damaging 1.00
R8159:Slc9a3 UTSW 13 74,164,288 (GRCm38) missense probably benign 0.01
R8939:Slc9a3 UTSW 13 74,163,776 (GRCm38) missense possibly damaging 0.93
R9111:Slc9a3 UTSW 13 74,150,801 (GRCm38) missense probably damaging 1.00
R9741:Slc9a3 UTSW 13 74,158,875 (GRCm38) missense possibly damaging 0.95
Z1176:Slc9a3 UTSW 13 74,165,856 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTGCCAGGAGCTTTCCATG -3'
(R):5'- GATACCCTCTGCTCACAGTG -3'

Sequencing Primer
(F):5'- TCCATGGGGAATGAGTAGCC -3'
(R):5'- CCTTCTGCCGGAGTTTAAATGCAG -3'
Posted On 2021-07-15