Incidental Mutation 'R7679:Slc9a3'
ID 592664
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 045707-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7679 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 74269576-74317561 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 74308395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 466 (R466H)
Ref Sequence ENSEMBL: ENSMUSP00000038142 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036208] [ENSMUST00000221703] [ENSMUST00000225423]
AlphaFold G3X939
Predicted Effect possibly damaging
Transcript: ENSMUST00000036208
AA Change: R466H

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: R466H

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Na_H_Exchanger 53 457 3.6e-87 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000221703
AA Change: R466H

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000225423
AA Change: R466H

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 A C 14: 78,752,256 (GRCm39) Y206D Het
Atm A T 9: 53,353,797 (GRCm39) I2906N probably damaging Het
B4galnt4 T C 7: 140,647,678 (GRCm39) V422A probably benign Het
Bod1l TTCAGGGATC TTC 5: 41,977,986 (GRCm39) probably null Het
Ccar2 G A 14: 70,376,684 (GRCm39) Q887* probably null Het
Cdh13 A G 8: 119,963,658 (GRCm39) I413V probably benign Het
Cfap54 A G 10: 92,803,374 (GRCm39) V1556A probably benign Het
Chchd7 A T 4: 3,941,297 (GRCm39) N14Y probably damaging Het
Col24a1 C A 3: 145,105,110 (GRCm39) T824N possibly damaging Het
Col6a3 A T 1: 90,739,473 (GRCm39) Y859N possibly damaging Het
Dnaaf5 C T 5: 139,136,392 (GRCm39) P131S unknown Het
Erh T C 12: 80,684,345 (GRCm39) N44S probably benign Het
Esm1 T A 13: 113,346,646 (GRCm39) D90E probably damaging Het
Fbxo44 A G 4: 148,238,089 (GRCm39) F213L probably benign Het
Flnc A G 6: 29,456,789 (GRCm39) T2262A probably benign Het
Fmo9 T C 1: 166,495,058 (GRCm39) Q281R probably benign Het
Gdpgp1 G T 7: 79,888,324 (GRCm39) E118D probably benign Het
Gnas A T 2: 174,126,624 (GRCm39) Q53L probably damaging Het
Gpr142 G A 11: 114,697,533 (GRCm39) V360M possibly damaging Het
Grn A G 11: 102,323,895 (GRCm39) D46G probably benign Het
H2-T10 A G 17: 36,430,216 (GRCm39) F242L not run Het
Hgsnat T C 8: 26,444,665 (GRCm39) T428A probably damaging Het
Hoxa9 A G 6: 52,201,288 (GRCm39) I251T probably damaging Het
Inpp5f C T 7: 128,296,247 (GRCm39) T866I possibly damaging Het
Itgb1 T A 8: 129,446,929 (GRCm39) N481K probably damaging Het
Leng9 C A 7: 4,152,659 (GRCm39) D6Y probably benign Het
Lox A C 18: 52,658,178 (GRCm39) F332V possibly damaging Het
Lrp1 G T 10: 127,424,297 (GRCm39) Y796* probably null Het
Lrrc32 G A 7: 98,148,894 (GRCm39) G558D possibly damaging Het
Lrrk2 A G 15: 91,610,389 (GRCm39) E707G possibly damaging Het
Matn4 A G 2: 164,231,578 (GRCm39) *625R probably null Het
Mcur1 T A 13: 43,697,959 (GRCm39) K314* probably null Het
Med1 G C 11: 98,046,887 (GRCm39) P1303R unknown Het
Mgam T C 6: 40,619,980 (GRCm39) L23P probably damaging Het
Muc6 G C 7: 141,217,659 (GRCm39) P2338R probably damaging Het
Nfatc1 T C 18: 80,651,205 (GRCm39) I936V probably benign Het
Nol11 T C 11: 107,064,142 (GRCm39) S557G probably benign Het
Palb2 A G 7: 121,727,237 (GRCm39) I211T probably benign Het
Pard3 T C 8: 128,098,327 (GRCm39) V456A probably benign Het
Pax2 G A 19: 44,749,376 (GRCm39) V40M probably damaging Het
Pik3cb T C 9: 98,970,660 (GRCm39) K344E probably benign Het
Pik3r3 T A 4: 116,113,392 (GRCm39) M45K probably benign Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Pot1a A G 6: 25,771,633 (GRCm39) V196A probably benign Het
Prkdc T A 16: 15,649,183 (GRCm39) I3719N probably damaging Het
Psg16 G A 7: 16,827,685 (GRCm39) G123S probably damaging Het
Psme4 A G 11: 30,828,425 (GRCm39) D1815G probably damaging Het
Rpe65 C T 3: 159,310,030 (GRCm39) T101I probably damaging Het
Rpp25l A C 4: 41,712,326 (GRCm39) C150G unknown Het
Saxo4 T C 19: 10,459,618 (GRCm39) T30A probably damaging Het
Serpina1b A T 12: 103,696,774 (GRCm39) W212R probably damaging Het
Sned1 T C 1: 93,163,760 (GRCm39) L17P unknown Het
Speg C T 1: 75,382,959 (GRCm39) T1056I probably damaging Het
Tada1 T C 1: 166,219,540 (GRCm39) F281L probably benign Het
Tbcd G A 11: 121,494,534 (GRCm39) V1032I probably benign Het
Tlr3 A T 8: 45,852,088 (GRCm39) S270T probably benign Het
Txndc15 G T 13: 55,873,621 (GRCm39) R327L probably damaging Het
Zfp169 G C 13: 48,651,859 (GRCm39) L66V probably damaging Het
Zfp442 G T 2: 150,252,917 (GRCm39) Y45* probably null Het
Zzef1 A G 11: 72,784,104 (GRCm39) D2003G probably benign 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
R0388:Slc9a3 UTSW 13 74,269,655 (GRCm39) missense unknown
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
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'- CAGTGCCAATGGGTTCATGG -3'
(R):5'- GTCCAATTTGTCCTGAGATGTCC -3'

Sequencing Primer
(F):5'- CAATGGGTTCATGGGTCCC -3'
(R):5'- TCGAAAGCCTTTCAGAGG -3'
Posted On 2019-11-12