Incidental Mutation 'IGL02813:Slc9a2'
ID 360668
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 # IGL02813
Quality Score
Status
Chromosome 1
Chromosomal Location 40720872-40808045 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40781829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 353 (S353T)
Ref Sequence ENSEMBL: ENSMUSP00000027231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027231]
AlphaFold Q3ZAS0
Predicted Effect probably damaging
Transcript: ENSMUST00000027231
AA Change: S353T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027231
Gene: ENSMUSG00000026062
AA Change: S353T

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 C A 11: 7,096,591 (GRCm39) Q660K possibly damaging Het
Arhgap5 A C 12: 52,563,748 (GRCm39) T240P probably benign Het
Arhgef7 C T 8: 11,850,767 (GRCm39) probably benign Het
Cttnbp2 C A 6: 18,367,537 (GRCm39) V1594F possibly damaging Het
Cyp2a22 G T 7: 26,635,859 (GRCm39) Q235K probably benign Het
Dennd11 C T 6: 40,395,473 (GRCm39) V212I probably benign Het
Dynlt5 A G 4: 102,849,769 (GRCm39) N64S probably damaging Het
Ecm1 G A 3: 95,644,098 (GRCm39) P169S probably damaging Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Ern1 T C 11: 106,314,251 (GRCm39) D183G probably damaging Het
Gpat2 T C 2: 127,276,375 (GRCm39) V635A possibly damaging Het
Gria1 A G 11: 57,174,410 (GRCm39) N564S probably damaging Het
Grtp1 A C 8: 13,236,945 (GRCm39) I173S possibly damaging Het
Hsd17b4 A G 18: 50,261,415 (GRCm39) probably benign Het
Lrp1b T C 2: 40,569,229 (GRCm39) probably null Het
Mark4 A T 7: 19,181,181 (GRCm39) probably null Het
Mphosph9 T C 5: 124,453,691 (GRCm39) D207G probably benign Het
Mrgprd A G 7: 144,875,251 (GRCm39) M41V probably benign Het
Myo1g T C 11: 6,468,743 (GRCm39) *66W probably null Het
Neto2 C A 8: 86,417,515 (GRCm39) D30Y probably benign Het
Nlrp6 A T 7: 140,503,333 (GRCm39) I450F possibly damaging Het
Nup155 T A 15: 8,159,605 (GRCm39) probably benign Het
Or4c11c A G 2: 88,661,495 (GRCm39) I11M probably benign Het
Pcdhb10 T G 18: 37,546,815 (GRCm39) S630R possibly damaging Het
Rwdd4a T C 8: 47,990,396 (GRCm39) probably null Het
Slc12a7 T A 13: 73,961,795 (GRCm39) probably benign Het
Slc22a20 C T 19: 6,034,886 (GRCm39) V192I probably benign Het
Srgap3 A G 6: 112,708,441 (GRCm39) F753L probably damaging Het
Tcea1 C T 1: 4,956,979 (GRCm39) T93I probably benign Het
Tecpr2 A T 12: 110,899,626 (GRCm39) S665C probably damaging Het
Tor4a C A 2: 25,084,761 (GRCm39) E381* probably null Het
Vdr A G 15: 97,767,562 (GRCm39) Y143H probably benign Het
Vmn2r91 A C 17: 18,356,348 (GRCm39) T672P possibly damaging Het
Wdr41 A G 13: 95,131,753 (GRCm39) probably null 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
IGL00500:Slc9a2 APN 1 40,802,743 (GRCm39) missense possibly damaging 0.95
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
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 2015-12-18