Incidental Mutation 'IGL02894:Slc9a2'
ID363340
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: 0.065) question?
Stock #IGL02894
Quality Score
Status
Chromosome1
Chromosomal Location40680574-40769273 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 40763602 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 604 (E604G)
Ref Sequence ENSEMBL: ENSMUSP00000027231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027231]
Predicted Effect probably benign
Transcript: ENSMUST00000027231
AA Change: E604G

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000027231
Gene: ENSMUSG00000026062
AA Change: E604G

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130204L05Rik A T 3: 91,088,393 F67L probably benign Het
A630023A22Rik T A 14: 34,054,860 probably benign Het
AF529169 T G 9: 89,603,102 I81L probably damaging Het
Aurka T A 2: 172,366,948 probably null Het
Cacna2d3 C T 14: 29,064,319 probably null Het
Cdh12 A G 15: 21,586,294 Y733C probably damaging Het
Cdon A T 9: 35,455,426 E199D probably benign Het
Celsr2 A T 3: 108,395,210 L558Q probably damaging Het
Clcnkb C A 4: 141,407,819 R536L probably benign Het
Cyp3a11 G A 5: 145,869,026 Q151* probably null Het
Dnah7a A T 1: 53,577,328 V1158E probably benign Het
Dnah8 G T 17: 30,721,110 E1677* probably null Het
Dock3 T C 9: 106,930,099 N1343S probably benign Het
Dock6 T A 9: 21,811,815 E1603D probably damaging Het
Fam91a1 C T 15: 58,443,231 T589M probably benign Het
Fat2 T A 11: 55,256,653 N3921I probably damaging Het
Gm10188 A G 1: 132,229,299 probably benign Het
Grid2ip A G 5: 143,391,108 E976G probably benign Het
Hapln3 G T 7: 79,121,773 Q123K probably benign Het
Hnrnpul1 G A 7: 25,750,904 P128S possibly damaging Het
Hsd3b1 T A 3: 98,852,929 I249F possibly damaging Het
Kbtbd3 A T 9: 4,331,444 H606L probably benign Het
Krt82 T C 15: 101,542,720 Y418C probably damaging Het
Mcm3ap C A 10: 76,477,767 A565E probably benign Het
Naip2 C T 13: 100,183,789 V240I probably benign Het
Naip2 A G 13: 100,160,997 S844P probably damaging Het
Notch2 T A 3: 98,102,432 C558* probably null Het
Npdc1 T A 2: 25,407,995 H185Q probably benign Het
Olfr1164 T C 2: 88,093,763 I58V possibly damaging Het
Olfr1183 T G 2: 88,461,726 Y148D probably damaging Het
Olfr447 A T 6: 42,911,517 probably benign Het
Osbpl3 A T 6: 50,346,332 I257N possibly damaging Het
Pkd1l2 T A 8: 117,013,891 T2156S probably damaging Het
Ppp1r13b A G 12: 111,831,454 probably benign Het
Ppp3ca C A 3: 136,797,812 H49N probably damaging Het
Prrc2c A T 1: 162,678,057 L1100I probably damaging Het
Ptpn21 A C 12: 98,689,632 probably benign Het
Ptpn7 A T 1: 135,143,168 M332L probably damaging Het
Ptprq T A 10: 107,667,424 Q791L probably benign Het
Ptprz1 G A 6: 23,035,149 R1966H probably damaging Het
Ralgapa1 T A 12: 55,717,069 Q1404L possibly damaging Het
Reln C A 5: 21,885,548 M3437I possibly damaging Het
Slc13a1 T C 6: 24,137,042 probably benign Het
Slc4a11 T C 2: 130,687,155 probably null Het
Sod3 T G 5: 52,368,006 S16A possibly damaging Het
Taok3 A G 5: 117,263,613 I650V probably benign Het
Uggt2 T C 14: 119,081,799 I270M probably damaging Het
Ugt3a2 T A 15: 9,367,401 I410N probably damaging Het
Ush2a G A 1: 188,451,846 S1449N probably damaging Het
Usp29 A T 7: 6,961,634 M159L probably benign Het
Vmn1r122 A T 7: 21,133,724 F135L probably benign Het
Wdr11 T C 7: 129,631,166 probably benign Het
Zc3h14 T A 12: 98,758,943 probably null Het
Zfp955a A T 17: 33,242,452 C235* probably null 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
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
X0054:Slc9a2 UTSW 1 40742687 missense probably damaging 0.99
Posted On2015-12-18