Incidental Mutation 'R8776:Slc9a2'
ID664683
Institutional Source Beutler Lab
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: 0.067) question?
Stock #R8776 (G1)
Quality Score225.009
Status Not validated
Chromosome1
Chromosomal Location40680574-40769273 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 40742729 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 373 (T373A)
Ref Sequence ENSEMBL: ENSMUSP00000027231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027231]
Predicted Effect probably damaging
Transcript: ENSMUST00000027231
AA Change: T373A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000027231
Gene: ENSMUSG00000026062
AA Change: T373A

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik A G 2: 35,354,990 Y117H probably benign Het
a A G 2: 155,050,692 D97G probably damaging Het
Cdca7l T C 12: 117,872,363 S190P probably damaging Het
Chst9 T A 18: 15,453,029 Y159F possibly damaging Het
Col26a1 G A 5: 136,882,854 R52C probably damaging Het
Dchs2 A T 3: 83,356,394 D3323V possibly damaging Het
Dqx1 T A 6: 83,058,638 I44N probably damaging Het
Edc4 A G 8: 105,887,360 D415G probably damaging Het
Enpp3 T A 10: 24,774,835 D801V probably damaging Het
Fam13b G A 18: 34,451,393 R573C probably damaging Het
Fgfr2 A T 7: 130,196,272 I415N possibly damaging Het
Gm32742 T A 9: 51,155,930 M366L probably benign Het
Gm49336 A T 14: 60,220,066 S563T possibly damaging Het
Gm5475 T C 15: 100,427,011 F107L unknown Het
Lamp3 T C 16: 19,655,502 D374G probably damaging Het
Lin9 T C 1: 180,668,885 probably null Het
Mef2d T C 3: 88,167,649 S381P probably benign Het
Mfsd9 A G 1: 40,773,755 *467Q probably null Het
Mpo A G 11: 87,802,712 I639V possibly damaging Het
Mrgprh T C 17: 12,877,488 I205T probably benign Het
Ncapd2 T C 6: 125,177,513 D580G probably benign Het
Nkain4 T A 2: 180,944,127 I48F probably damaging Het
Notch4 C A 17: 34,587,605 R1839S probably damaging Het
Nr6a1 A G 2: 38,760,232 Y129H probably damaging Het
Olfr832 T A 9: 18,944,990 I114N possibly damaging Het
Robo1 G T 16: 73,024,253 E1294* probably null Het
Sept8 A G 11: 53,537,516 K331R probably benign Het
Shmt2 A G 10: 127,520,916 probably null Het
Skint6 A C 4: 112,804,688 L1233R possibly damaging Het
Slc41a3 A T 6: 90,644,183 T402S probably benign Het
Spata31d1b T C 13: 59,715,469 C144R probably benign Het
Syne1 A G 10: 5,231,783 V4184A possibly damaging Het
Tenm4 G A 7: 96,895,032 R2122H probably damaging Het
Tlnrd1 A T 7: 83,883,108 D38E probably benign Het
Tnnc2 C T 2: 164,778,215 A6T probably benign Het
Usp9y A G Y: 1,356,320 V1127A probably benign Het
Ylpm1 T C 12: 85,030,421 Y1307H probably damaging Het
Zfp266 T C 9: 20,500,213 S223G 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
IGL00500:Slc9a2 APN 1 40763583 missense possibly damaging 0.95
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
R8776-TAIL:Slc9a2 UTSW 1 40742729 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
Predicted Primers
Posted On2021-03-08