Incidental Mutation 'R3612:Slc9a2'
ID 269245
Institutional Source Beutler Lab
Gene Symbol Slc9a2
Ensembl Gene ENSMUSG00000026062
Gene Name solute carrier family 9 (sodium/hydrogen exchanger), member 2
Synonyms 2210416H12Rik, 4932415O19Rik, NHE2
MMRRC Submission 040672-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R3612 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 40680574-40769273 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 40719058 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027231] [ENSMUST00000192345]
AlphaFold Q3ZAS0
Predicted Effect probably null
Transcript: ENSMUST00000027231
SMART Domains Protein: ENSMUSP00000027231
Gene: ENSMUSG00000026062

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 probably null
Transcript: ENSMUST00000192345
SMART Domains Protein: ENSMUSP00000142144
Gene: ENSMUSG00000026062

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
low complexity region 40 60 N/A INTRINSIC
Pfam:Na_H_Exchanger 85 336 2.5e-56 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 100% (31/31)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,503,187 (GRCm38) V192A probably damaging Het
Acsm2 G C 7: 119,591,330 (GRCm38) V90L probably damaging Het
Adam5 T C 8: 24,818,089 (GRCm38) probably benign Het
Ankrd12 A T 17: 65,983,547 (GRCm38) D1630E probably benign Het
Ccdc88c A T 12: 100,939,073 (GRCm38) I1085N probably damaging Het
Cdc42bpb A G 12: 111,303,822 (GRCm38) probably benign Het
Cdh19 A T 1: 110,893,296 (GRCm38) C571S probably damaging Het
Cep290 T A 10: 100,541,581 (GRCm38) L1491* probably null Het
Cherp G A 8: 72,461,996 (GRCm38) probably benign Het
Diaph3 T C 14: 87,037,457 (GRCm38) S188G probably null Het
Ech1 C T 7: 28,830,243 (GRCm38) R34C probably damaging Het
Erc2 T C 14: 27,777,177 (GRCm38) S337P possibly damaging Het
Fabp3 C T 4: 130,312,387 (GRCm38) T57I probably benign Het
Fah A G 7: 84,585,290 (GRCm38) V412A probably damaging Het
Gatc T A 5: 115,335,486 (GRCm38) E131D probably benign Het
Glrb A G 3: 80,862,030 (GRCm38) V130A possibly damaging Het
Gm4782 T A 6: 50,608,630 (GRCm38) probably null Het
Klhl1 C T 14: 96,381,770 (GRCm38) probably null Het
Mslnl G A 17: 25,742,934 (GRCm38) V128M probably damaging Het
Myo15 G C 11: 60,477,679 (GRCm38) D422H probably damaging Het
Ncapd3 T A 9: 27,050,357 (GRCm38) H360Q probably damaging Het
Olfr381 T C 11: 73,485,940 (GRCm38) R295G probably benign Het
Ppargc1b T C 18: 61,310,556 (GRCm38) N528S probably benign Het
Rprd2 G A 3: 95,764,152 (GRCm38) P1313L probably damaging Het
Slc12a7 C A 13: 73,809,923 (GRCm38) D955E probably benign Het
Tex24 T A 8: 27,345,173 (GRCm38) V243D probably benign Het
Vmn2r17 A G 5: 109,429,597 (GRCm38) T505A probably benign Het
Vps37a T C 8: 40,544,936 (GRCm38) probably benign Het
Zmynd19 A G 2: 24,951,480 (GRCm38) Y20C probably damaging Het
Other mutations in Slc9a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Slc9a2 APN 1 40,767,737 (GRCm38) missense probably benign
IGL00487:Slc9a2 APN 1 40,742,658 (GRCm38) missense probably damaging 0.99
IGL00500:Slc9a2 APN 1 40,763,583 (GRCm38) missense possibly damaging 0.95
IGL01445:Slc9a2 APN 1 40,718,810 (GRCm38) missense possibly damaging 0.51
IGL02060:Slc9a2 APN 1 40,756,293 (GRCm38) missense probably damaging 0.99
IGL02813:Slc9a2 APN 1 40,742,669 (GRCm38) missense probably damaging 1.00
IGL02894:Slc9a2 APN 1 40,763,602 (GRCm38) missense probably benign 0.20
IGL02939:Slc9a2 APN 1 40,742,703 (GRCm38) missense probably damaging 1.00
IGL03193:Slc9a2 APN 1 40,756,271 (GRCm38) missense probably benign 0.00
putty UTSW 1 40,742,653 (GRCm38) nonsense probably null
E0370:Slc9a2 UTSW 1 40,763,541 (GRCm38) critical splice acceptor site probably null
PIT4377001:Slc9a2 UTSW 1 40,743,841 (GRCm38) missense probably damaging 1.00
R0009:Slc9a2 UTSW 1 40,763,602 (GRCm38) missense probably benign 0.38
R0009:Slc9a2 UTSW 1 40,763,602 (GRCm38) missense probably benign 0.38
R0152:Slc9a2 UTSW 1 40,742,804 (GRCm38) missense probably damaging 1.00
R0374:Slc9a2 UTSW 1 40,743,857 (GRCm38) missense possibly damaging 0.93
R1386:Slc9a2 UTSW 1 40,719,018 (GRCm38) missense probably damaging 1.00
R1485:Slc9a2 UTSW 1 40,726,388 (GRCm38) missense probably damaging 1.00
R1712:Slc9a2 UTSW 1 40,763,610 (GRCm38) missense possibly damaging 0.90
R1779:Slc9a2 UTSW 1 40,742,643 (GRCm38) missense probably damaging 0.99
R2051:Slc9a2 UTSW 1 40,726,437 (GRCm38) missense probably damaging 1.00
R2166:Slc9a2 UTSW 1 40,742,768 (GRCm38) missense probably damaging 1.00
R2513:Slc9a2 UTSW 1 40,742,608 (GRCm38) splice site probably null
R4631:Slc9a2 UTSW 1 40,761,918 (GRCm38) missense possibly damaging 0.66
R4760:Slc9a2 UTSW 1 40,761,916 (GRCm38) missense probably damaging 1.00
R4768:Slc9a2 UTSW 1 40,726,374 (GRCm38) missense probably damaging 1.00
R4769:Slc9a2 UTSW 1 40,726,374 (GRCm38) missense probably damaging 1.00
R4815:Slc9a2 UTSW 1 40,718,849 (GRCm38) missense probably benign 0.00
R4920:Slc9a2 UTSW 1 40,755,718 (GRCm38) missense probably benign 0.05
R5191:Slc9a2 UTSW 1 40,743,893 (GRCm38) missense probably damaging 1.00
R5963:Slc9a2 UTSW 1 40,682,036 (GRCm38) missense possibly damaging 0.94
R6322:Slc9a2 UTSW 1 40,742,653 (GRCm38) nonsense probably null
R6453:Slc9a2 UTSW 1 40,742,621 (GRCm38) missense possibly damaging 0.64
R6685:Slc9a2 UTSW 1 40,718,909 (GRCm38) missense probably damaging 0.99
R7088:Slc9a2 UTSW 1 40,726,379 (GRCm38) missense probably damaging 1.00
R7302:Slc9a2 UTSW 1 40,767,668 (GRCm38) missense possibly damaging 0.58
R7450:Slc9a2 UTSW 1 40,681,835 (GRCm38) start gained probably benign
R7670:Slc9a2 UTSW 1 40,718,997 (GRCm38) missense probably damaging 1.00
R7970:Slc9a2 UTSW 1 40,726,214 (GRCm38) missense probably damaging 0.98
R8104:Slc9a2 UTSW 1 40,718,649 (GRCm38) missense probably damaging 1.00
R8776:Slc9a2 UTSW 1 40,742,729 (GRCm38) missense probably damaging 1.00
R8776-TAIL:Slc9a2 UTSW 1 40,742,729 (GRCm38) missense probably damaging 1.00
R8887:Slc9a2 UTSW 1 40,718,849 (GRCm38) missense probably benign 0.01
R9028:Slc9a2 UTSW 1 40,726,452 (GRCm38) missense probably damaging 1.00
R9189:Slc9a2 UTSW 1 40,755,784 (GRCm38) missense probably benign 0.21
R9245:Slc9a2 UTSW 1 40,766,300 (GRCm38) missense probably benign 0.27
R9250:Slc9a2 UTSW 1 40,767,827 (GRCm38) missense probably benign 0.00
R9400:Slc9a2 UTSW 1 40,719,051 (GRCm38) missense possibly damaging 0.65
R9512:Slc9a2 UTSW 1 40,682,098 (GRCm38) missense probably damaging 0.98
R9583:Slc9a2 UTSW 1 40,681,901 (GRCm38) missense probably benign
X0054:Slc9a2 UTSW 1 40,742,687 (GRCm38) missense probably damaging 0.99
Z1176:Slc9a2 UTSW 1 40,767,711 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGTTTGGCCTCAGTGACATC -3'
(R):5'- GAGTTTCAAGATCACATCATAAGCTC -3'

Sequencing Primer
(F):5'- GTGACATCACCCTGCTCCAG -3'
(R):5'- TCCAGCAAGATGTGATCTGC -3'
Posted On 2015-02-19