Incidental Mutation 'R1640:Slc9a3'
ID 173488
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 039676-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1640 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 74269576-74317561 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 74306937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 354 (V354E)
Ref Sequence ENSEMBL: ENSMUSP00000153255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036208] [ENSMUST00000221703] [ENSMUST00000225423]
AlphaFold G3X939
Predicted Effect probably damaging
Transcript: ENSMUST00000036208
AA Change: V354E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: V354E

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: V354E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000225423
AA Change: V354E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 92.2%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik C A 8: 125,566,584 (GRCm39) V279L probably damaging Het
Acot6 A T 12: 84,147,900 (GRCm39) Y52F probably damaging Het
Adam22 C T 5: 8,195,689 (GRCm39) V284I probably damaging Het
Agl A T 3: 116,545,739 (GRCm39) H1352Q probably benign Het
Aldh18a1 G A 19: 40,573,943 (GRCm39) P27S probably benign Het
C1ra A G 6: 124,499,233 (GRCm39) N473S probably benign Het
C87436 T C 6: 86,423,233 (GRCm39) L269P probably damaging Het
Calcrl A G 2: 84,164,021 (GRCm39) V390A probably damaging Het
Ccp110 T G 7: 118,314,751 (GRCm39) probably null Het
Cerk A G 15: 86,033,601 (GRCm39) V274A probably damaging Het
Chd1l A T 3: 97,488,307 (GRCm39) S570T probably benign Het
Chst14 T A 2: 118,757,379 (GRCm39) W83R probably damaging Het
Chsy1 A T 7: 65,821,262 (GRCm39) D499V probably benign Het
Ckmt1 C A 2: 121,190,198 (GRCm39) probably null Het
Cnot1 A T 8: 96,496,460 (GRCm39) V282D probably damaging Het
Cntn3 A T 6: 102,218,974 (GRCm39) S549T possibly damaging Het
Cntnap5c A T 17: 58,702,289 (GRCm39) D1203V probably benign Het
Col4a4 A G 1: 82,513,491 (GRCm39) Y169H unknown Het
Cwc22 A G 2: 77,745,874 (GRCm39) F454S possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dhrs7 A T 12: 72,699,089 (GRCm39) W298R possibly damaging Het
Dock7 G T 4: 98,833,483 (GRCm39) T1906N probably damaging Het
Dpy19l3 T C 7: 35,449,203 (GRCm39) T67A probably benign Het
Drc1 A G 5: 30,521,301 (GRCm39) D654G possibly damaging Het
Ech1 A T 7: 28,531,264 (GRCm39) H284L probably damaging Het
Epc1 G A 18: 6,441,175 (GRCm39) Q8* probably null Het
Etv5 A T 16: 22,254,664 (GRCm39) D65E probably damaging Het
F2rl3 A G 8: 73,489,534 (GRCm39) R254G probably benign Het
Fabp5 T G 3: 10,080,170 (GRCm39) F73L probably benign Het
Fbrs T C 7: 127,086,483 (GRCm39) I611T probably damaging Het
Flnc T C 6: 29,433,806 (GRCm39) S117P possibly damaging Het
Frmd4b A C 6: 97,285,634 (GRCm39) S291A possibly damaging Het
Galnt13 A G 2: 54,950,558 (GRCm39) Y413C probably damaging Het
Gfer A G 17: 24,914,337 (GRCm39) Y109H possibly damaging Het
Gli2 T C 1: 118,764,254 (GRCm39) H1299R possibly damaging Het
Gm10110 T C 14: 90,135,679 (GRCm39) noncoding transcript Het
Gprc5a T G 6: 135,055,652 (GRCm39) L33W probably damaging Het
Grin3a T C 4: 49,844,721 (GRCm39) T121A probably benign Het
Grk3 A G 5: 113,163,248 (GRCm39) V33A probably benign Het
Hc A T 2: 34,947,336 (GRCm39) Y59* probably null Het
Hrnr A G 3: 93,239,823 (GRCm39) I3354V unknown Het
Hyou1 C G 9: 44,300,703 (GRCm39) T924S probably benign Het
Ifi209 T G 1: 173,464,931 (GRCm39) H20Q probably damaging Het
Ifi44 A G 3: 151,438,171 (GRCm39) V372A probably benign Het
Igdcc4 T A 9: 65,030,077 (GRCm39) L328H probably damaging Het
Jkampl A G 6: 73,445,869 (GRCm39) Y227H probably benign Het
Kif18a A G 2: 109,120,161 (GRCm39) T155A probably benign Het
Kmt2d A G 15: 98,742,938 (GRCm39) probably benign Het
Kri1 T C 9: 21,191,753 (GRCm39) D281G possibly damaging Het
Larp1b T A 3: 40,988,507 (GRCm39) M1K probably null Het
Loxhd1 A G 18: 77,490,259 (GRCm39) D1225G probably damaging Het
Mzf1 A G 7: 12,777,197 (GRCm39) *736Q probably null Het
Naip2 C T 13: 100,298,489 (GRCm39) A516T possibly damaging Het
Ncf2 T A 1: 152,683,784 (GRCm39) M1K probably null Het
Or5t15 T A 2: 86,681,571 (GRCm39) H157L probably benign Het
Or8h10 A C 2: 86,808,963 (GRCm39) M59R probably damaging Het
Parp12 T C 6: 39,073,574 (GRCm39) D417G probably benign Het
Parp12 T C 6: 39,088,612 (GRCm39) H208R probably damaging Het
Pcif1 T C 2: 164,727,603 (GRCm39) I132T probably benign Het
Pck2 A G 14: 55,786,041 (GRCm39) D610G possibly damaging Het
Plbd1 T C 6: 136,617,123 (GRCm39) K185E probably benign Het
Ppp2r5a T C 1: 191,086,126 (GRCm39) M425V probably damaging Het
Rapgef6 T A 11: 54,548,231 (GRCm39) V805D probably damaging Het
Rprd2 C T 3: 95,671,059 (GRCm39) probably benign Het
Ryr3 A G 2: 112,731,178 (GRCm39) S711P probably damaging Het
Slc17a3 T A 13: 24,036,340 (GRCm39) L212* probably null Het
Slc4a8 A G 15: 100,681,668 (GRCm39) D41G probably benign Het
Spen A G 4: 141,196,254 (GRCm39) I3632T probably damaging Het
Tesc A G 5: 118,192,914 (GRCm39) S77G probably benign Het
Tet3 A T 6: 83,346,297 (GRCm39) V1245D probably benign Het
Tox4 T A 14: 52,530,000 (GRCm39) D553E possibly damaging Het
Tpmt A T 13: 47,180,759 (GRCm39) Y193* probably null Het
Trio T C 15: 27,833,130 (GRCm39) Y1169C probably damaging Het
Urb1 G A 16: 90,569,514 (GRCm39) T1404I probably benign Het
Usp47 T C 7: 111,682,334 (GRCm39) S540P probably damaging Het
Vmn1r178 A T 7: 23,593,548 (GRCm39) M126L possibly damaging Het
Vmn1r223 T C 13: 23,434,348 (GRCm39) F314S probably damaging Het
Vmn2r112 A T 17: 22,824,097 (GRCm39) I451L probably benign Het
Zfc3h1 A G 10: 115,242,806 (GRCm39) probably null Het
Zfp503 A T 14: 22,034,969 (GRCm39) L649Q probably damaging Het
Zfp977 A C 7: 42,229,530 (GRCm39) C332G 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
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
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'- CAGCATCACCTTTTGCGGCATC -3'
(R):5'- CATGGTTGTTCCTCTCAAGGCCAC -3'

Sequencing Primer
(F):5'- GCATCTGCTGTCAGAAGTACG -3'
(R):5'- TGAGGCAATAATACTGCTCTCATCC -3'
Posted On 2014-04-24