Incidental Mutation 'R6453:Slc9a2'
ID 520084
Institutional Source Beutler Lab
Gene Symbol Slc9a2
Ensembl Gene ENSMUSG00000026062
Gene Name solute carrier family 9 (sodium/hydrogen exchanger), member 2
Synonyms 2210416H12Rik, NHE2, 4932415O19Rik
MMRRC Submission 044589-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R6453 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 40720872-40808045 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 40781781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 337 (I337F)
Ref Sequence ENSEMBL: ENSMUSP00000027231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027231]
AlphaFold Q3ZAS0
Predicted Effect possibly damaging
Transcript: ENSMUST00000027231
AA Change: I337F

PolyPhen 2 Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027231
Gene: ENSMUSG00000026062
AA Change: I337F

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.6%
  • 20x: 92.2%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik C T 17: 35,879,109 (GRCm39) S149L possibly damaging Het
A830018L16Rik A T 1: 11,868,782 (GRCm39) D354V possibly damaging Het
Acta2 G A 19: 34,224,057 (GRCm39) T150I probably damaging Het
Adgra1 T A 7: 139,455,343 (GRCm39) S324T probably benign Het
Ankrd44 A T 1: 54,696,863 (GRCm39) probably null Het
B430306N03Rik T A 17: 48,623,764 (GRCm39) W22R probably damaging Het
Ccdc162 A T 10: 41,426,821 (GRCm39) V2024E probably damaging Het
Cers6 C T 2: 68,877,513 (GRCm39) H164Y probably benign Het
Chd3 T A 11: 69,240,938 (GRCm39) K1458* probably null Het
Cimip1 A G 2: 173,370,052 (GRCm39) Y109C probably benign Het
Col3a1 G A 1: 45,378,538 (GRCm39) probably benign Het
Cyb5d2 T G 11: 72,673,586 (GRCm39) T3P probably benign Het
Dennd1b A G 1: 139,071,686 (GRCm39) Y468C probably benign Het
Dnajc14 A G 10: 128,643,359 (GRCm39) E427G probably damaging Het
Exoc7 T C 11: 116,184,795 (GRCm39) probably null Het
Fat2 A G 11: 55,173,042 (GRCm39) I2557T probably benign Het
Flt1 T C 5: 147,620,751 (GRCm39) D131G possibly damaging Het
Frem1 G T 4: 82,833,062 (GRCm39) S1858* probably null Het
Garem1 T A 18: 21,281,796 (GRCm39) I187F probably damaging Het
Gldc A T 19: 30,093,917 (GRCm39) I700N probably damaging Het
Gpatch4 A G 3: 87,962,312 (GRCm39) E175G probably damaging Het
Gria2 A G 3: 80,648,281 (GRCm39) Y152H possibly damaging Het
H2-Q2 C T 17: 35,563,871 (GRCm39) L251F probably benign Het
Hectd4 G A 5: 121,488,655 (GRCm39) G3649R probably damaging Het
Hormad1 A G 3: 95,485,568 (GRCm39) E252G probably benign Het
Kif14 A G 1: 136,410,042 (GRCm39) probably null Het
Lmcd1 A G 6: 112,292,789 (GRCm39) T214A probably benign Het
Macrod2 A G 2: 142,018,545 (GRCm39) E226G probably damaging Het
Mcm4 A T 16: 15,448,273 (GRCm39) L428Q probably damaging Het
Msh6 T A 17: 88,293,167 (GRCm39) Y641N probably damaging Het
Myo7a C T 7: 97,722,374 (GRCm39) V1184M probably benign Het
Nipa2 A T 7: 55,585,569 (GRCm39) M142K probably damaging Het
Or8b1c T C 9: 38,384,871 (GRCm39) I276T probably benign Het
Parvg A T 15: 84,213,126 (GRCm39) E122V probably null Het
Pclo T A 5: 14,726,803 (GRCm39) probably benign Het
Pik3cd A G 4: 149,736,759 (GRCm39) V933A probably damaging Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Qpctl C T 7: 18,875,222 (GRCm39) V337I probably damaging Het
Qrfprl G A 6: 65,430,014 (GRCm39) G237S possibly damaging Het
Ralgapa1 A G 12: 55,785,104 (GRCm39) W719R probably damaging Het
Rangrf A G 11: 68,864,378 (GRCm39) L28P probably damaging Het
Rbbp9 G T 2: 144,391,054 (GRCm39) Q38K probably benign Het
Rnf169 C T 7: 99,584,434 (GRCm39) M246I probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,124 (GRCm39) probably benign Het
Sdk1 A G 5: 142,082,676 (GRCm39) D1098G probably damaging Het
Sgsm3 T A 15: 80,895,515 (GRCm39) S689T probably damaging Het
Slc13a3 C T 2: 165,253,867 (GRCm39) V429M possibly damaging Het
Slc30a5 A T 13: 100,951,197 (GRCm39) D228E probably benign Het
Slc46a3 A G 5: 147,823,200 (GRCm39) I214T possibly damaging Het
Slc7a15 T C 12: 8,584,490 (GRCm39) M347V possibly damaging Het
Sostdc1 C A 12: 36,364,407 (GRCm39) P39T probably benign Het
Speg A G 1: 75,394,616 (GRCm39) N1775S probably benign Het
Spg7 A G 8: 123,806,162 (GRCm39) K291E possibly damaging Het
Sptbn2 A T 19: 4,794,208 (GRCm39) R1471W possibly damaging Het
Thada T C 17: 84,723,751 (GRCm39) E1101G probably damaging Het
Trpm6 G A 19: 18,807,354 (GRCm39) A1033T probably damaging Het
Ttll6 G A 11: 96,049,553 (GRCm39) R757H 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
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
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
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
Predicted Primers PCR Primer
(F):5'- TGTGTATTAAAGACCTTCAGAGAGGG -3'
(R):5'- AGCAGACGAAAGCCCAGTTC -3'

Sequencing Primer
(F):5'- AGTTTACATGCAAATCCTGTTCC -3'
(R):5'- GAAAGCCCAGTTCCACTCGTG -3'
Posted On 2018-06-06