Incidental Mutation 'R0388:Slc9a3'
ID 31429
Institutional Source Beutler Lab
Gene Symbol Slc9a3
Ensembl Gene ENSMUSG00000036123
Gene Name solute carrier family 9 (sodium/hydrogen exchanger), member 3
Synonyms NHE3, NHE-3, 9030624O13Rik
MMRRC Submission 038594-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0388 (G1)
Quality Score 166
Status Validated
Chromosome 13
Chromosomal Location 74269576-74317561 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 74269655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 8 (P8S)
Ref Sequence ENSEMBL: ENSMUSP00000153255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036208] [ENSMUST00000221703] [ENSMUST00000225423]
AlphaFold G3X939
Predicted Effect unknown
Transcript: ENSMUST00000036208
AA Change: P8S
SMART Domains Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: P8S

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Na_H_Exchanger 53 457 3.6e-87 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221410
Predicted Effect unknown
Transcript: ENSMUST00000221703
AA Change: P8S
Predicted Effect unknown
Transcript: ENSMUST00000225423
AA Change: P8S
Meta Mutation Damage Score 0.0966 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.6%
  • 20x: 90.7%
Validation Efficiency 100% (67/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,057,789 (GRCm39) probably benign Het
Acsbg1 T C 9: 54,516,347 (GRCm39) K678R probably damaging Het
Adgrg6 A G 10: 14,326,402 (GRCm39) I410T probably benign Het
Afap1l2 A C 19: 56,905,674 (GRCm39) probably benign Het
Aox1 T C 1: 58,393,565 (GRCm39) Y1242H probably damaging Het
Apoo-ps T C 13: 107,551,173 (GRCm39) noncoding transcript Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Cdh3 C A 8: 107,265,761 (GRCm39) T268K probably damaging Het
Chd5 T A 4: 152,456,101 (GRCm39) H923Q probably damaging Het
Chd7 T C 4: 8,854,560 (GRCm39) V1967A probably benign Het
Cntn3 T C 6: 102,254,277 (GRCm39) M222V probably damaging Het
Dcaf17 A G 2: 70,908,915 (GRCm39) K277R probably benign Het
Dmbt1 T C 7: 130,697,779 (GRCm39) probably benign Het
Dmpk T A 7: 18,818,002 (GRCm39) probably benign Het
Dzank1 A T 2: 144,318,026 (GRCm39) L714Q possibly damaging Het
Efcab3 A G 11: 105,000,227 (GRCm39) D272G possibly damaging Het
Erbb2 G C 11: 98,318,177 (GRCm39) R471P possibly damaging Het
Esf1 T A 2: 139,962,791 (GRCm39) Y760F possibly damaging Het
Fanci C A 7: 79,089,378 (GRCm39) T938K probably benign Het
Gnai3 A G 3: 108,023,073 (GRCm39) probably benign Het
Hspg2 T A 4: 137,238,469 (GRCm39) C319S probably damaging Het
Il12a T A 3: 68,602,520 (GRCm39) probably null Het
Inpp4a A G 1: 37,435,241 (GRCm39) D837G probably damaging Het
Kcnj5 T A 9: 32,229,159 (GRCm39) E13V probably damaging Het
Kcnq3 T A 15: 65,871,887 (GRCm39) Y594F probably benign Het
Kif16b T C 2: 142,582,857 (GRCm39) E556G probably damaging Het
Kif28 T C 1: 179,567,654 (GRCm39) I39V possibly damaging Het
Lgi2 T C 5: 52,711,891 (GRCm39) E143G probably damaging Het
Mast1 T G 8: 85,642,166 (GRCm39) I1063L probably benign Het
Med12l T C 3: 59,000,925 (GRCm39) probably benign Het
Mmp19 G T 10: 128,634,752 (GRCm39) R456L probably benign Het
Mon1b T A 8: 114,365,710 (GRCm39) V346E probably damaging Het
Mpv17l A T 16: 13,758,863 (GRCm39) I96L probably benign Het
Mrgpra9 A T 7: 46,902,542 (GRCm39) M1K probably null Het
Mycbp2 A T 14: 103,394,103 (GRCm39) H2819Q probably benign Het
Nav1 A C 1: 135,376,655 (GRCm39) probably benign Het
Neurl4 T C 11: 69,802,559 (GRCm39) probably benign Het
Ntng2 G C 2: 29,097,438 (GRCm39) P341R probably damaging Het
Oas1d A T 5: 121,055,091 (GRCm39) Y221F probably damaging Het
Or1j19 C A 2: 36,676,874 (GRCm39) D112E probably benign Het
Or1l4 A C 2: 37,092,196 (GRCm39) probably null Het
Or5al6 A G 2: 85,976,974 (GRCm39) Y35H probably damaging Het
Osbpl8 A G 10: 111,108,143 (GRCm39) M380V probably benign Het
Pank1 T C 19: 34,799,106 (GRCm39) probably benign Het
Parn T C 16: 13,472,340 (GRCm39) D169G possibly damaging Het
Pknox1 T A 17: 31,822,166 (GRCm39) I311N probably damaging Het
Pprc1 T C 19: 46,051,214 (GRCm39) V248A possibly damaging Het
Prkcq T C 2: 11,259,045 (GRCm39) C322R probably benign Het
Ptpn13 T A 5: 103,702,928 (GRCm39) I1298N probably benign Het
Rab11fip3 A G 17: 26,288,046 (GRCm39) S36P probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Sass6 C A 3: 116,400,957 (GRCm39) probably benign Het
Shroom3 G A 5: 93,099,152 (GRCm39) G1463D probably benign Het
Slc35d1 A T 4: 103,042,084 (GRCm39) Y249* probably null Het
Slc9a9 T A 9: 94,821,616 (GRCm39) probably null Het
Sting1 A G 18: 35,868,164 (GRCm39) probably null Het
Syne2 T A 12: 76,033,749 (GRCm39) M3666K probably benign Het
Synpo2 A G 3: 122,873,546 (GRCm39) V1140A probably benign Het
Thada A G 17: 84,538,524 (GRCm39) F1495L probably benign Het
Timeless A G 10: 128,077,294 (GRCm39) probably null Het
Tlr6 G T 5: 65,112,548 (GRCm39) H120N possibly damaging Het
Tns3 T C 11: 8,395,703 (GRCm39) I1234V probably benign Het
Ttll9 A G 2: 152,842,099 (GRCm39) S318G probably benign Het
Vps13c T C 9: 67,830,197 (GRCm39) probably benign Het
Zfp933 T C 4: 147,910,899 (GRCm39) I232M probably benign Het
Zfyve27 T C 19: 42,178,024 (GRCm39) S382P probably damaging Het
Other mutations in Slc9a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Slc9a3 APN 13 74,308,421 (GRCm39) missense probably benign 0.19
IGL01299:Slc9a3 APN 13 74,308,382 (GRCm39) missense probably benign 0.33
IGL01390:Slc9a3 APN 13 74,298,880 (GRCm39) missense probably benign 0.01
IGL01814:Slc9a3 APN 13 74,314,091 (GRCm39) missense probably damaging 0.96
IGL02020:Slc9a3 APN 13 74,306,967 (GRCm39) missense probably damaging 0.99
IGL02072:Slc9a3 APN 13 74,313,978 (GRCm39) missense probably benign 0.00
IGL02186:Slc9a3 APN 13 74,311,233 (GRCm39) missense possibly damaging 0.94
IGL02878:Slc9a3 APN 13 74,313,476 (GRCm39) nonsense probably null
IGL03056:Slc9a3 APN 13 74,298,938 (GRCm39) missense probably damaging 1.00
R0090:Slc9a3 UTSW 13 74,306,847 (GRCm39) missense probably damaging 0.99
R0280:Slc9a3 UTSW 13 74,307,543 (GRCm39) missense probably damaging 1.00
R0359:Slc9a3 UTSW 13 74,305,726 (GRCm39) missense probably damaging 1.00
R0396:Slc9a3 UTSW 13 74,305,903 (GRCm39) critical splice donor site probably null
R0893:Slc9a3 UTSW 13 74,307,365 (GRCm39) missense probably damaging 1.00
R1169:Slc9a3 UTSW 13 74,298,862 (GRCm39) missense probably damaging 0.98
R1640:Slc9a3 UTSW 13 74,306,937 (GRCm39) missense probably damaging 1.00
R1769:Slc9a3 UTSW 13 74,311,190 (GRCm39) missense probably benign 0.00
R1850:Slc9a3 UTSW 13 74,309,889 (GRCm39) missense probably benign 0.34
R1937:Slc9a3 UTSW 13 74,314,175 (GRCm39) splice site probably null
R2048:Slc9a3 UTSW 13 74,311,860 (GRCm39) missense probably damaging 1.00
R2146:Slc9a3 UTSW 13 74,269,722 (GRCm39) missense probably benign 0.00
R2495:Slc9a3 UTSW 13 74,306,822 (GRCm39) missense probably damaging 0.99
R2883:Slc9a3 UTSW 13 74,306,879 (GRCm39) missense probably damaging 1.00
R2938:Slc9a3 UTSW 13 74,269,788 (GRCm39) missense possibly damaging 0.62
R4538:Slc9a3 UTSW 13 74,309,851 (GRCm39) missense possibly damaging 0.56
R4580:Slc9a3 UTSW 13 74,307,005 (GRCm39) nonsense probably null
R4581:Slc9a3 UTSW 13 74,312,284 (GRCm39) missense probably damaging 0.99
R4841:Slc9a3 UTSW 13 74,313,956 (GRCm39) missense probably damaging 1.00
R4928:Slc9a3 UTSW 13 74,305,838 (GRCm39) missense probably damaging 1.00
R4965:Slc9a3 UTSW 13 74,312,412 (GRCm39) missense possibly damaging 0.62
R5079:Slc9a3 UTSW 13 74,312,406 (GRCm39) missense probably damaging 0.97
R5329:Slc9a3 UTSW 13 74,299,079 (GRCm39) missense possibly damaging 0.94
R5663:Slc9a3 UTSW 13 74,311,831 (GRCm39) missense probably damaging 0.98
R5876:Slc9a3 UTSW 13 74,309,842 (GRCm39) missense probably damaging 1.00
R5919:Slc9a3 UTSW 13 74,306,859 (GRCm39) missense probably damaging 0.98
R6060:Slc9a3 UTSW 13 74,299,004 (GRCm39) missense probably damaging 1.00
R6562:Slc9a3 UTSW 13 74,303,280 (GRCm39) missense probably damaging 1.00
R6645:Slc9a3 UTSW 13 74,312,291 (GRCm39) missense probably damaging 0.99
R7145:Slc9a3 UTSW 13 74,298,797 (GRCm39) missense probably damaging 0.99
R7422:Slc9a3 UTSW 13 74,299,004 (GRCm39) missense probably damaging 1.00
R7565:Slc9a3 UTSW 13 74,305,813 (GRCm39) missense probably damaging 1.00
R7679:Slc9a3 UTSW 13 74,308,395 (GRCm39) missense possibly damaging 0.88
R8032:Slc9a3 UTSW 13 74,305,763 (GRCm39) missense probably damaging 1.00
R8080:Slc9a3 UTSW 13 74,314,146 (GRCm39) missense probably benign 0.30
R8158:Slc9a3 UTSW 13 74,303,241 (GRCm39) missense probably damaging 1.00
R8159:Slc9a3 UTSW 13 74,312,407 (GRCm39) missense probably benign 0.01
R8837:Slc9a3 UTSW 13 74,305,823 (GRCm39) missense probably damaging 1.00
R8939:Slc9a3 UTSW 13 74,311,895 (GRCm39) missense possibly damaging 0.93
R9111:Slc9a3 UTSW 13 74,298,920 (GRCm39) missense probably damaging 1.00
R9741:Slc9a3 UTSW 13 74,306,994 (GRCm39) missense possibly damaging 0.95
Z1176:Slc9a3 UTSW 13 74,313,975 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAGCAGGACTGTTTGCGTTCAC -3'
(R):5'- GCATGGCTAAGGCTCAGTCATAGG -3'

Sequencing Primer
(F):5'- AGCGGGATTAAAGGCCAC -3'
(R):5'- GGATACTTATGATCCACAAAACCTGG -3'
Posted On 2013-04-24