Incidental Mutation 'IGL02060:Slc9a2'
ID185371
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: 0.069) question?
Stock #IGL02060
Quality Score
Status
Chromosome1
Chromosomal Location40680574-40769273 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 40756293 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 518 (V518E)
Ref Sequence ENSEMBL: ENSMUSP00000027231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027231]
Predicted Effect probably damaging
Transcript: ENSMUST00000027231
AA Change: V518E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027231
Gene: ENSMUSG00000026062
AA Change: V518E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192294
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
4932438H23Rik T A 16: 91,055,715 I178F probably damaging Het
Aff1 T C 5: 103,783,849 V111A possibly damaging Het
Aox1 T G 1: 58,097,955 I1168R possibly damaging Het
Atf6 T C 1: 170,819,420 R295G probably damaging Het
Blm C A 7: 80,514,580 probably benign Het
Cse1l A T 2: 166,930,653 L413F probably damaging Het
Dip2c T C 13: 9,622,630 V1024A probably damaging Het
Fam13c A T 10: 70,553,141 E498V probably damaging Het
Fat4 A G 3: 39,010,271 E4792G probably damaging Het
Gm5065 A G 7: 5,359,564 T65A probably damaging Het
Gm5724 T A 6: 141,754,408 M133L probably benign Het
Gramd1a A T 7: 31,130,571 L151* probably null Het
Igbp1b G T 6: 138,657,984 A154E probably damaging Het
Itga9 A G 9: 118,661,432 K277R probably damaging Het
Klra10 T C 6: 130,272,725 Y199C probably damaging Het
Mospd3 T C 5: 137,600,004 Y85C probably damaging Het
Nol6 C T 4: 41,117,700 A887T probably damaging Het
Olfr1006 C T 2: 85,674,834 V106I probably benign Het
Olfr1197 A T 2: 88,729,563 F12Y probably damaging Het
Olfr1427 A G 19: 12,099,460 Y60H probably damaging Het
Olfr480 G T 7: 108,066,671 F42L probably benign Het
Pcdhb17 A G 18: 37,486,416 T420A probably damaging Het
Pgghg T C 7: 140,946,633 V646A probably benign Het
Prkg2 A G 5: 99,024,515 S114P probably benign Het
Rela G T 19: 5,638,600 K28N probably damaging Het
Rhbdf2 G T 11: 116,600,626 A598E probably damaging Het
Ryr2 C T 13: 11,747,564 D1454N probably damaging Het
Sdk1 C T 5: 141,953,012 L397F possibly damaging Het
Sh3pxd2a C T 19: 47,373,378 probably benign Het
Snapc1 A G 12: 73,968,036 Y105C probably damaging Het
Sult2a8 A G 7: 14,425,401 S98P probably damaging Het
Tmem30c T A 16: 57,290,898 M4L probably benign Het
Trim71 T C 9: 114,513,253 I654V possibly damaging Het
Uroc1 A G 6: 90,338,255 S133G probably benign Het
Vmn2r100 A G 17: 19,521,254 N76S possibly damaging Het
Zcchc14 T C 8: 121,603,895 S910G probably damaging 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
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
X0054:Slc9a2 UTSW 1 40742687 missense probably damaging 0.99
Posted On2014-05-07