Incidental Mutation 'IGL00500:Slc9a2'
ID278537
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc9a2
Ensembl Gene ENSMUSG00000026062
Gene Namesolute carrier family 9 (sodium/hydrogen exchanger), member 2
Synonyms2210416H12Rik, 4932415O19Rik, NHE2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL00500
Quality Score
Status
Chromosome1
Chromosomal Location40680574-40769273 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 40763583 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 598 (E598K)
Ref Sequence ENSEMBL: ENSMUSP00000027231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027231]
Predicted Effect possibly damaging
Transcript: ENSMUST00000027231
AA Change: E598K

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027231
Gene: ENSMUSG00000026062
AA Change: E598K

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
low complexity region 40 60 N/A INTRINSIC
Pfam:Na_H_Exchanger 85 486 1.4e-95 PFAM
low complexity region 528 543 N/A INTRINSIC
Pfam:NEXCaM_BD 576 685 3e-44 PFAM
low complexity region 738 753 N/A INTRINSIC
low complexity region 788 793 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sodium-hydrogen exchanger (NHE) protein family. These proteins are involved in sodium-ion transport by exchanging intracellular hydrogen ions to external sodium ions and help in the regulation of cell pH and volume. The encoded protein is localized to the apical membrane and is involved in apical absorption of sodium. [provided by RefSeq, Jun 2016]
PHENOTYPE: Gastric acid secretion is impaired in homozygous mutant mice. The gastric mucosa becomes inflamed and exhibits an altered cellular composition. Mutant mice do not breed well. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 A G 7: 119,784,344 E576G probably damaging Het
Adnp A G 2: 168,183,323 V684A possibly damaging Het
Agl A G 3: 116,772,820 W965R probably damaging Het
AI467606 G A 7: 127,092,333 V27I probably benign Het
Ankrd34b G A 13: 92,438,787 G176R probably benign Het
Atp2a1 C T 7: 126,447,216 W72* probably null Het
Atp6v1a T C 16: 44,111,583 Q114R probably benign Het
B4galt2 A T 4: 117,877,181 L257Q probably damaging Het
Chrna10 A T 7: 102,112,408 C325* probably null Het
Clip2 A G 5: 134,500,157 probably benign Het
Crocc2 C T 1: 93,217,044 Q1437* probably null Het
Csmd1 C T 8: 15,921,139 V3059M probably damaging Het
Cst10 C A 2: 149,405,581 S72R probably damaging Het
Dapk1 A G 13: 60,760,804 D1077G probably damaging Het
Dhx9 T C 1: 153,465,748 T585A probably damaging Het
Fam210a G A 18: 68,275,783 T152I possibly damaging Het
Fbn1 T A 2: 125,317,516 Q2214L probably damaging Het
Fpr1 T A 17: 17,877,001 Q242L probably benign Het
G2e3 A G 12: 51,353,798 probably null Het
Gcdh C T 8: 84,888,517 probably benign Het
Gm18856 T C 13: 13,965,734 probably benign Het
Itgb2 T A 10: 77,564,724 W724R probably damaging Het
Klhl2 T C 8: 64,749,086 T519A probably benign Het
Krtap12-1 G T 10: 77,720,980 C119F possibly damaging Het
Nrap T A 19: 56,372,909 K369N probably damaging Het
Nrg1 T A 8: 31,822,314 probably null Het
Plekhh3 T A 11: 101,165,693 probably null Het
Ppm1b A G 17: 85,003,284 S289G probably damaging Het
Prol1 A T 5: 88,328,691 *313C probably null Het
Rab40c T C 17: 25,885,085 E111G probably damaging Het
Skint11 T A 4: 114,194,709 C85S probably benign Het
Slfn8 T A 11: 83,013,484 D360V possibly damaging Het
Sspo C A 6: 48,497,421 C4925* probably null Het
Vps8 A G 16: 21,442,334 T75A possibly damaging Het
Wfdc12 A T 2: 164,190,250 I40N probably damaging Het
Zfp608 T A 18: 54,988,333 T61S probably benign Het
Other mutations in Slc9a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Slc9a2 APN 1 40767737 missense probably benign
IGL00487:Slc9a2 APN 1 40742658 missense probably damaging 0.99
IGL01445:Slc9a2 APN 1 40718810 missense possibly damaging 0.51
IGL02060:Slc9a2 APN 1 40756293 missense probably damaging 0.99
IGL02813:Slc9a2 APN 1 40742669 missense probably damaging 1.00
IGL02894:Slc9a2 APN 1 40763602 missense probably benign 0.20
IGL02939:Slc9a2 APN 1 40742703 missense probably damaging 1.00
IGL03193:Slc9a2 APN 1 40756271 missense probably benign 0.00
E0370:Slc9a2 UTSW 1 40763541 critical splice acceptor site probably null
PIT4377001:Slc9a2 UTSW 1 40743841 missense probably damaging 1.00
R0009:Slc9a2 UTSW 1 40763602 missense probably benign 0.38
R0009:Slc9a2 UTSW 1 40763602 missense probably benign 0.38
R0152:Slc9a2 UTSW 1 40742804 missense probably damaging 1.00
R0374:Slc9a2 UTSW 1 40743857 missense possibly damaging 0.93
R1386:Slc9a2 UTSW 1 40719018 missense probably damaging 1.00
R1485:Slc9a2 UTSW 1 40726388 missense probably damaging 1.00
R1712:Slc9a2 UTSW 1 40763610 missense possibly damaging 0.90
R1779:Slc9a2 UTSW 1 40742643 missense probably damaging 0.99
R2051:Slc9a2 UTSW 1 40726437 missense probably damaging 1.00
R2166:Slc9a2 UTSW 1 40742768 missense probably damaging 1.00
R2513:Slc9a2 UTSW 1 40742608 splice site probably null
R3612:Slc9a2 UTSW 1 40719058 splice site probably null
R4631:Slc9a2 UTSW 1 40761918 missense possibly damaging 0.66
R4760:Slc9a2 UTSW 1 40761916 missense probably damaging 1.00
R4768:Slc9a2 UTSW 1 40726374 missense probably damaging 1.00
R4769:Slc9a2 UTSW 1 40726374 missense probably damaging 1.00
R4815:Slc9a2 UTSW 1 40718849 missense probably benign 0.00
R4920:Slc9a2 UTSW 1 40755718 missense probably benign 0.05
R5191:Slc9a2 UTSW 1 40743893 missense probably damaging 1.00
R5963:Slc9a2 UTSW 1 40682036 missense possibly damaging 0.94
R6322:Slc9a2 UTSW 1 40742653 nonsense probably null
R6453:Slc9a2 UTSW 1 40742621 missense possibly damaging 0.64
R6685:Slc9a2 UTSW 1 40718909 missense probably damaging 0.99
R7088:Slc9a2 UTSW 1 40726379 missense probably damaging 1.00
R7302:Slc9a2 UTSW 1 40767668 missense possibly damaging 0.58
R7450:Slc9a2 UTSW 1 40681835 start gained probably benign
R7670:Slc9a2 UTSW 1 40718997 missense probably damaging 1.00
R7970:Slc9a2 UTSW 1 40726214 missense probably damaging 0.98
R8104:Slc9a2 UTSW 1 40718649 missense probably damaging 1.00
X0054:Slc9a2 UTSW 1 40742687 missense probably damaging 0.99
Z1176:Slc9a2 UTSW 1 40767711 missense probably damaging 1.00
Posted On2015-04-16