Incidental Mutation 'R2938:Slc9a3'
ID 256122
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 040515-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2938 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 74269576-74317561 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74269788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 52 (I52T)
Ref Sequence ENSEMBL: ENSMUSP00000153255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036208] [ENSMUST00000221703] [ENSMUST00000225423]
AlphaFold G3X939
Predicted Effect probably benign
Transcript: ENSMUST00000036208
AA Change: I52T

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: I52T

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 probably benign
Transcript: ENSMUST00000221703
AA Change: I52T

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect possibly damaging
Transcript: ENSMUST00000225423
AA Change: I52T

PolyPhen 2 Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (62/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef2 T A 2: 166,736,653 (GRCm39) I1775K probably damaging Het
Arhgap45 T A 10: 79,864,836 (GRCm39) M933K probably damaging Het
Astn2 A T 4: 65,910,550 (GRCm39) H427Q possibly damaging Het
Bace2 T C 16: 97,213,388 (GRCm39) probably null Het
Cacna1b A G 2: 24,496,540 (GRCm39) V125A probably benign Het
Cbarp T C 10: 79,967,603 (GRCm39) D539G probably damaging Het
Ccdc59 A T 10: 105,677,388 (GRCm39) K9M possibly damaging Het
Ccdc73 T A 2: 104,805,980 (GRCm39) L296* probably null Het
Cd40 G C 2: 164,911,622 (GRCm39) V191L probably benign Het
Cdc6 A G 11: 98,801,586 (GRCm39) I217V probably benign Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cdr1 T G X: 60,228,968 (GRCm39) D66A unknown Het
Cela3b A G 4: 137,150,574 (GRCm39) I208T probably benign Het
Col1a2 A T 6: 4,520,788 (GRCm39) Q375L possibly damaging Het
Csn1s1 A T 5: 87,824,995 (GRCm39) Q221L possibly damaging Het
Cstl1 T A 2: 148,592,977 (GRCm39) I44N possibly damaging Het
Depdc5 G A 5: 33,058,965 (GRCm39) probably null Het
Dthd1 A G 5: 63,000,300 (GRCm39) I541V probably benign Het
Eml6 G A 11: 29,783,049 (GRCm39) probably benign Het
Fkbp15 T A 4: 62,222,900 (GRCm39) T1000S probably benign Het
Gimap8 A T 6: 48,635,730 (GRCm39) R498S possibly damaging Het
Glis1 A G 4: 107,489,488 (GRCm39) N692D possibly damaging Het
Gpr83 A G 9: 14,776,167 (GRCm39) T163A probably benign Het
Hmgcr G A 13: 96,799,576 (GRCm39) L173F probably damaging Het
Htr2b T A 1: 86,030,177 (GRCm39) I173F possibly damaging Het
Ifna11 T C 4: 88,738,530 (GRCm39) L112P probably damaging Het
Lmod1 A G 1: 135,291,654 (GRCm39) K170E probably benign Het
Lrrtm1 A T 6: 77,220,635 (GRCm39) M31L probably benign Het
Macf1 T C 4: 123,326,695 (GRCm39) N2815S probably damaging Het
Man1c1 A G 4: 134,430,263 (GRCm39) I173T possibly damaging Het
Man2b2 A G 5: 36,978,330 (GRCm39) I318T probably benign Het
Mib1 T A 18: 10,752,033 (GRCm39) probably benign Het
Myo10 T A 15: 25,795,803 (GRCm39) S1315T probably damaging Het
Nsun5 C T 5: 135,404,317 (GRCm39) Q375* probably null Het
Opcml A G 9: 27,702,682 (GRCm39) M1V probably null Het
Or4d5 A T 9: 40,012,039 (GRCm39) I249K probably benign Het
Or5m3 T C 2: 85,838,357 (GRCm39) M79T probably damaging Het
Or6c66b T A 10: 129,376,484 (GRCm39) F26Y probably damaging Het
Parm1 T C 5: 91,742,328 (GRCm39) I232T possibly damaging Het
Pdss1 T A 2: 22,796,799 (GRCm39) probably null Het
Pfkfb2 G A 1: 130,633,147 (GRCm39) T202I possibly damaging Het
Postn T A 3: 54,277,731 (GRCm39) F242Y probably damaging Het
Prss12 A G 3: 123,280,625 (GRCm39) T437A probably benign Het
Rap1gap2 C A 11: 74,298,148 (GRCm39) A491S possibly damaging Het
Rbm10 T C X: 20,513,934 (GRCm39) L429P possibly damaging Het
Saraf A G 8: 34,635,735 (GRCm39) N346D probably benign Het
Sec31b T C 19: 44,524,618 (GRCm39) D93G probably damaging Het
Sgcg A T 14: 61,467,074 (GRCm39) F175L probably damaging Het
Sh3rf2 A G 18: 42,282,789 (GRCm39) D449G probably benign Het
Tcf7 A T 11: 52,173,610 (GRCm39) probably null Het
Tlr1 A G 5: 65,083,251 (GRCm39) V442A probably damaging Het
Tmub1 A G 5: 24,650,922 (GRCm39) *261Q probably null Het
Uck1 GCCAACACC GCC 2: 32,146,088 (GRCm39) probably benign Het
Utp4 A G 8: 107,649,561 (GRCm39) D670G probably damaging Het
Vamp5 A G 6: 72,346,323 (GRCm39) V91A probably benign Het
Vmn1r35 A T 6: 66,655,950 (GRCm39) M73K possibly damaging Het
Vmn2r12 C T 5: 109,239,397 (GRCm39) E389K probably damaging Het
Wdsub1 T C 2: 59,703,630 (GRCm39) T112A possibly damaging Het
Xpo4 G T 14: 57,841,897 (GRCm39) Q473K probably benign Het
Xpo7 A G 14: 70,909,130 (GRCm39) I797T probably damaging Het
Zfp808 G A 13: 62,319,032 (GRCm39) V67M 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
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'- GTACTCACCAAGGTATGCGTG -3'
(R):5'- TTCTCAGACTAACAGTGCACC -3'

Sequencing Primer
(F):5'- CACCAAGGTATGCGTGTTGGC -3'
(R):5'- AACAGTGCACCGTGCTCTTG -3'
Posted On 2014-12-29