Incidental Mutation 'IGL00500:Slc9a2'
ID 278537
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc9a2
Ensembl Gene ENSMUSG00000026062
Gene Name solute carrier family 9 (sodium/hydrogen exchanger), member 2
Synonyms 2210416H12Rik, NHE2, 4932415O19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL00500
Quality Score
Status
Chromosome 1
Chromosomal Location 40720872-40808045 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 40802743 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q3ZAS0
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: 119,383,567 (GRCm39) E576G probably damaging Het
Adnp A G 2: 168,025,243 (GRCm39) V684A possibly damaging Het
Agl A G 3: 116,566,469 (GRCm39) W965R probably damaging Het
AI467606 G A 7: 126,691,505 (GRCm39) V27I probably benign Het
Ankrd34b G A 13: 92,575,295 (GRCm39) G176R probably benign Het
Atp2a1 C T 7: 126,046,388 (GRCm39) W72* probably null Het
Atp6v1a T C 16: 43,931,946 (GRCm39) Q114R probably benign Het
B4galt2 A T 4: 117,734,378 (GRCm39) L257Q probably damaging Het
Chrna10 A T 7: 101,761,615 (GRCm39) C325* probably null Het
Clip2 A G 5: 134,529,011 (GRCm39) probably benign Het
Crocc2 C T 1: 93,144,766 (GRCm39) Q1437* probably null Het
Csmd1 C T 8: 15,971,139 (GRCm39) V3059M probably damaging Het
Cst5 C A 2: 149,247,501 (GRCm39) S72R probably damaging Het
Dapk1 A G 13: 60,908,618 (GRCm39) D1077G probably damaging Het
Dhx9 T C 1: 153,341,494 (GRCm39) T585A probably damaging Het
Fam210a G A 18: 68,408,854 (GRCm39) T152I possibly damaging Het
Fbn1 T A 2: 125,159,436 (GRCm39) Q2214L probably damaging Het
Fpr1 T A 17: 18,097,263 (GRCm39) Q242L probably benign Het
G2e3 A G 12: 51,400,581 (GRCm39) probably null Het
Gcdh C T 8: 85,615,146 (GRCm39) probably benign Het
Gm18856 T C 13: 14,140,319 (GRCm39) probably benign Het
Itgb2 T A 10: 77,400,558 (GRCm39) W724R probably damaging Het
Klhl2 T C 8: 65,202,120 (GRCm39) T519A probably benign Het
Krtap12-1 G T 10: 77,556,814 (GRCm39) C119F possibly damaging Het
Nrap T A 19: 56,361,341 (GRCm39) K369N probably damaging Het
Nrg1 T A 8: 32,312,342 (GRCm39) probably null Het
Plekhh3 T A 11: 101,056,519 (GRCm39) probably null Het
Ppm1b A G 17: 85,310,712 (GRCm39) S289G probably damaging Het
Prol1 A T 5: 88,476,550 (GRCm39) *313C probably null Het
Rab40c T C 17: 26,104,059 (GRCm39) E111G probably damaging Het
Skint11 T A 4: 114,051,906 (GRCm39) C85S probably benign Het
Slfn8 T A 11: 82,904,310 (GRCm39) D360V possibly damaging Het
Sspo C A 6: 48,474,355 (GRCm39) C4925* probably null Het
Vps8 A G 16: 21,261,084 (GRCm39) T75A possibly damaging Het
Wfdc12 A T 2: 164,032,170 (GRCm39) I40N probably damaging Het
Zfp608 T A 18: 55,121,405 (GRCm39) T61S probably benign Het
Other mutations in Slc9a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Slc9a2 APN 1 40,806,897 (GRCm39) missense probably benign
IGL00487:Slc9a2 APN 1 40,781,818 (GRCm39) missense probably damaging 0.99
IGL01445:Slc9a2 APN 1 40,757,970 (GRCm39) missense possibly damaging 0.51
IGL02060:Slc9a2 APN 1 40,795,453 (GRCm39) missense probably damaging 0.99
IGL02813:Slc9a2 APN 1 40,781,829 (GRCm39) missense probably damaging 1.00
IGL02894:Slc9a2 APN 1 40,802,762 (GRCm39) missense probably benign 0.20
IGL02939:Slc9a2 APN 1 40,781,863 (GRCm39) missense probably damaging 1.00
IGL03193:Slc9a2 APN 1 40,795,431 (GRCm39) missense probably benign 0.00
putty UTSW 1 40,781,813 (GRCm39) nonsense probably null
E0370:Slc9a2 UTSW 1 40,802,701 (GRCm39) critical splice acceptor site probably null
PIT4377001:Slc9a2 UTSW 1 40,783,001 (GRCm39) missense probably damaging 1.00
R0009:Slc9a2 UTSW 1 40,802,762 (GRCm39) missense probably benign 0.38
R0009:Slc9a2 UTSW 1 40,802,762 (GRCm39) missense probably benign 0.38
R0152:Slc9a2 UTSW 1 40,781,964 (GRCm39) missense probably damaging 1.00
R0374:Slc9a2 UTSW 1 40,783,017 (GRCm39) missense possibly damaging 0.93
R1386:Slc9a2 UTSW 1 40,758,178 (GRCm39) missense probably damaging 1.00
R1485:Slc9a2 UTSW 1 40,765,548 (GRCm39) missense probably damaging 1.00
R1712:Slc9a2 UTSW 1 40,802,770 (GRCm39) missense possibly damaging 0.90
R1779:Slc9a2 UTSW 1 40,781,803 (GRCm39) missense probably damaging 0.99
R2051:Slc9a2 UTSW 1 40,765,597 (GRCm39) missense probably damaging 1.00
R2166:Slc9a2 UTSW 1 40,781,928 (GRCm39) missense probably damaging 1.00
R2513:Slc9a2 UTSW 1 40,781,768 (GRCm39) splice site probably null
R3612:Slc9a2 UTSW 1 40,758,218 (GRCm39) splice site probably null
R4631:Slc9a2 UTSW 1 40,801,078 (GRCm39) missense possibly damaging 0.66
R4760:Slc9a2 UTSW 1 40,801,076 (GRCm39) missense probably damaging 1.00
R4768:Slc9a2 UTSW 1 40,765,534 (GRCm39) missense probably damaging 1.00
R4769:Slc9a2 UTSW 1 40,765,534 (GRCm39) missense probably damaging 1.00
R4815:Slc9a2 UTSW 1 40,758,009 (GRCm39) missense probably benign 0.00
R4920:Slc9a2 UTSW 1 40,794,878 (GRCm39) missense probably benign 0.05
R5191:Slc9a2 UTSW 1 40,783,053 (GRCm39) missense probably damaging 1.00
R5963:Slc9a2 UTSW 1 40,721,196 (GRCm39) missense possibly damaging 0.94
R6322:Slc9a2 UTSW 1 40,781,813 (GRCm39) nonsense probably null
R6453:Slc9a2 UTSW 1 40,781,781 (GRCm39) missense possibly damaging 0.64
R6685:Slc9a2 UTSW 1 40,758,069 (GRCm39) missense probably damaging 0.99
R7088:Slc9a2 UTSW 1 40,765,539 (GRCm39) missense probably damaging 1.00
R7302:Slc9a2 UTSW 1 40,806,828 (GRCm39) missense possibly damaging 0.58
R7450:Slc9a2 UTSW 1 40,720,995 (GRCm39) start gained probably benign
R7670:Slc9a2 UTSW 1 40,758,157 (GRCm39) missense probably damaging 1.00
R7970:Slc9a2 UTSW 1 40,765,374 (GRCm39) missense probably damaging 0.98
R8104:Slc9a2 UTSW 1 40,757,809 (GRCm39) missense probably damaging 1.00
R8776:Slc9a2 UTSW 1 40,781,889 (GRCm39) missense probably damaging 1.00
R8776-TAIL:Slc9a2 UTSW 1 40,781,889 (GRCm39) missense probably damaging 1.00
R8887:Slc9a2 UTSW 1 40,758,009 (GRCm39) missense probably benign 0.01
R9028:Slc9a2 UTSW 1 40,765,612 (GRCm39) missense probably damaging 1.00
R9189:Slc9a2 UTSW 1 40,794,944 (GRCm39) missense probably benign 0.21
R9245:Slc9a2 UTSW 1 40,805,460 (GRCm39) missense probably benign 0.27
R9250:Slc9a2 UTSW 1 40,806,987 (GRCm39) missense probably benign 0.00
R9400:Slc9a2 UTSW 1 40,758,211 (GRCm39) missense possibly damaging 0.65
R9512:Slc9a2 UTSW 1 40,721,258 (GRCm39) missense probably damaging 0.98
R9583:Slc9a2 UTSW 1 40,721,061 (GRCm39) missense probably benign
X0054:Slc9a2 UTSW 1 40,781,847 (GRCm39) missense probably damaging 0.99
Z1176:Slc9a2 UTSW 1 40,806,871 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16