Incidental Mutation 'R7750:Slc9b2'
ID 597139
Institutional Source Beutler Lab
Gene Symbol Slc9b2
Ensembl Gene ENSMUSG00000037994
Gene Name solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2
Synonyms NHE10, NHA2, nha-oc, C80638, Nhedc2
MMRRC Submission 045806-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7750 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 135013083-135048606 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135031998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 286 (F286S)
Ref Sequence ENSEMBL: ENSMUSP00000060640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051849] [ENSMUST00000145195]
AlphaFold Q5BKR2
Predicted Effect probably damaging
Transcript: ENSMUST00000051849
AA Change: F286S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060640
Gene: ENSMUSG00000037994
AA Change: F286S

DomainStartEndE-ValueType
transmembrane domain 83 102 N/A INTRINSIC
Pfam:Na_H_Exchanger 116 515 4.4e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145195
SMART Domains Protein: ENSMUSP00000123083
Gene: ENSMUSG00000037994

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
transmembrane domain 47 69 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (56/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sodium hydrogen antiporters, such as NHEDC2, convert the proton motive force established by the respiratory chain or the F1F0 mitochondrial ATPase into sodium gradients that drive other energy-requiring processes, transduce environmental signals into cell responses, or function in drug efflux (Xiang et al., 2007 [PubMed 18000046]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele are viable and overtly normal, with no detectable abnormalities in osteoclast differentiation and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,075,199 (GRCm39) D816V possibly damaging Het
Abca16 A T 7: 120,113,928 (GRCm39) N933I probably benign Het
Acly A T 11: 100,368,839 (GRCm39) probably null Het
Acox1 C T 11: 116,074,406 (GRCm39) G105D possibly damaging Het
Ankrd24 A G 10: 81,482,628 (GRCm39) E939G possibly damaging Het
Bard1 T A 1: 71,106,101 (GRCm39) probably null Het
Brd4 G T 17: 32,432,521 (GRCm39) N579K unknown Het
C1qc T C 4: 136,617,592 (GRCm39) Y168C probably damaging Het
Casp6 A G 3: 129,705,858 (GRCm39) D175G probably damaging Het
Ccdc83 A T 7: 89,873,190 (GRCm39) Y388* probably null Het
Clasrp A T 7: 19,318,516 (GRCm39) *628R probably null Het
Cox4i1 A G 8: 121,400,049 (GRCm39) I111V probably benign Het
Cpvl T A 6: 53,903,886 (GRCm39) D293V probably damaging Het
Epb41l4b C T 4: 57,076,913 (GRCm39) probably null Het
Frem2 C A 3: 53,431,103 (GRCm39) L2743F possibly damaging Het
Frmd4a A T 2: 4,606,160 (GRCm39) H628L probably benign Het
Fyb1 A G 15: 6,690,184 (GRCm39) D809G probably damaging Het
Gm19410 T A 8: 36,274,652 (GRCm39) M1491K possibly damaging Het
Gm3604 G A 13: 62,517,810 (GRCm39) H183Y possibly damaging Het
H1f7 A G 15: 98,154,565 (GRCm39) S195P unknown Het
Lama2 T C 10: 26,866,920 (GRCm39) Y2858C probably damaging Het
Methig1 T C 15: 100,251,412 (GRCm39) F108L probably benign Het
Mfsd4b5 A G 10: 39,846,251 (GRCm39) V443A probably damaging Het
Muc5ac G C 7: 141,363,040 (GRCm39) G2117A unknown Het
Myh9 C T 15: 77,667,610 (GRCm39) V608I probably benign Het
Myo1g T C 11: 6,464,849 (GRCm39) D475G probably damaging Het
Neb A C 2: 52,170,728 (GRCm39) probably null Het
Nlrp1b T A 11: 71,059,665 (GRCm39) I769F probably benign Het
Nol8 G T 13: 49,815,742 (GRCm39) V617F possibly damaging Het
Or2d2b A T 7: 106,705,740 (GRCm39) C109* probably null Het
Pik3r2 A G 8: 71,223,545 (GRCm39) F346S probably damaging Het
Pou3f3 T A 1: 42,737,308 (GRCm39) F335I probably damaging Het
Ppp1r3e T C 14: 55,114,084 (GRCm39) D196G probably damaging Het
Prpf40a T C 2: 53,041,757 (GRCm39) T545A probably damaging Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rprd1a T A 18: 24,641,311 (GRCm39) K102* probably null Het
Sim1 A G 10: 50,772,131 (GRCm39) T47A possibly damaging Het
Slc45a1 C T 4: 150,728,498 (GRCm39) A102T probably damaging Het
Slc6a11 C T 6: 114,207,098 (GRCm39) P361S possibly damaging Het
Slco4a1 T C 2: 180,113,030 (GRCm39) S421P probably benign Het
Snap91 A C 9: 86,680,762 (GRCm39) probably null Het
Sppl2a A G 2: 126,761,625 (GRCm39) L293P probably damaging Het
Sval3 T A 6: 41,949,360 (GRCm39) I66K possibly damaging Het
Synj2bp T C 12: 81,551,311 (GRCm39) I85V probably benign Het
Thop1 G T 10: 80,916,025 (GRCm39) A403S probably benign Het
Timd4 T A 11: 46,706,354 (GRCm39) M52K probably damaging Het
Tmco5b A G 2: 113,118,609 (GRCm39) N111D probably damaging Het
Trip10 G A 17: 57,568,667 (GRCm39) V419I possibly damaging Het
Trpv3 T C 11: 73,176,847 (GRCm39) Y409H probably damaging Het
Tulp4 A G 17: 6,283,399 (GRCm39) T1143A probably damaging Het
Ugt2b5 A T 5: 87,288,108 (GRCm39) S20T probably benign Het
Unc5b A G 10: 60,610,823 (GRCm39) F406L probably benign Het
Usf3 A G 16: 44,040,884 (GRCm39) E1788G probably benign Het
Usp45 A G 4: 21,780,430 (GRCm39) D27G probably damaging Het
Vmn2r100 G A 17: 19,742,726 (GRCm39) V367I probably benign Het
Vmn2r49 T A 7: 9,710,185 (GRCm39) K849I probably damaging Het
Zfp119b A T 17: 56,245,682 (GRCm39) H501Q probably damaging Het
Zfp462 C A 4: 55,016,958 (GRCm39) H893N probably benign Het
Zkscan4 A G 13: 21,663,525 (GRCm39) E88G probably damaging Het
Other mutations in Slc9b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01626:Slc9b2 APN 3 135,042,156 (GRCm39) missense probably benign 0.17
IGL03091:Slc9b2 APN 3 135,034,791 (GRCm39) missense probably damaging 0.97
IGL03203:Slc9b2 APN 3 135,031,973 (GRCm39) missense probably damaging 1.00
IGL03377:Slc9b2 APN 3 135,042,119 (GRCm39) missense probably damaging 1.00
IGL02988:Slc9b2 UTSW 3 135,024,179 (GRCm39) missense probably benign 0.02
R0008:Slc9b2 UTSW 3 135,042,269 (GRCm39) missense possibly damaging 0.72
R0382:Slc9b2 UTSW 3 135,024,183 (GRCm39) missense probably damaging 0.99
R0628:Slc9b2 UTSW 3 135,029,536 (GRCm39) splice site probably benign
R1263:Slc9b2 UTSW 3 135,042,156 (GRCm39) missense probably benign 0.17
R1478:Slc9b2 UTSW 3 135,031,863 (GRCm39) missense probably benign 0.45
R1809:Slc9b2 UTSW 3 135,022,892 (GRCm39) missense possibly damaging 0.90
R2060:Slc9b2 UTSW 3 135,032,027 (GRCm39) missense probably damaging 0.99
R2119:Slc9b2 UTSW 3 135,034,743 (GRCm39) splice site probably null
R3196:Slc9b2 UTSW 3 135,042,290 (GRCm39) missense probably benign 0.04
R3805:Slc9b2 UTSW 3 135,030,349 (GRCm39) missense probably damaging 1.00
R4127:Slc9b2 UTSW 3 135,035,598 (GRCm39) missense probably benign 0.00
R4401:Slc9b2 UTSW 3 135,042,305 (GRCm39) missense probably benign 0.04
R4402:Slc9b2 UTSW 3 135,042,305 (GRCm39) missense probably benign 0.04
R4622:Slc9b2 UTSW 3 135,038,279 (GRCm39) missense probably damaging 1.00
R6125:Slc9b2 UTSW 3 135,036,457 (GRCm39) splice site probably null
R7081:Slc9b2 UTSW 3 135,027,698 (GRCm39) missense probably benign 0.10
R7166:Slc9b2 UTSW 3 135,031,939 (GRCm39) missense unknown
R7203:Slc9b2 UTSW 3 135,036,422 (GRCm39) missense probably benign 0.04
R7307:Slc9b2 UTSW 3 135,024,151 (GRCm39) missense probably benign 0.03
R7617:Slc9b2 UTSW 3 135,042,221 (GRCm39) missense probably damaging 1.00
R7722:Slc9b2 UTSW 3 135,035,596 (GRCm39) missense probably null 0.20
R7748:Slc9b2 UTSW 3 135,031,940 (GRCm39) missense possibly damaging 0.90
R8339:Slc9b2 UTSW 3 135,030,363 (GRCm39) missense possibly damaging 0.62
R8703:Slc9b2 UTSW 3 135,031,924 (GRCm39) nonsense probably null
R8711:Slc9b2 UTSW 3 135,030,351 (GRCm39) missense probably benign 0.05
R8810:Slc9b2 UTSW 3 135,035,530 (GRCm39) missense probably benign 0.00
R9079:Slc9b2 UTSW 3 135,042,150 (GRCm39) missense probably damaging 1.00
R9229:Slc9b2 UTSW 3 135,042,295 (GRCm39) missense probably benign
R9369:Slc9b2 UTSW 3 135,036,446 (GRCm39) missense probably benign 0.37
Predicted Primers PCR Primer
(F):5'- TACGAATTCCGAGGTGGTGG -3'
(R):5'- GTCTTGCTCTCCATCTGTGAGG -3'

Sequencing Primer
(F):5'- GTGGTCGTGAGCAGCTC -3'
(R):5'- TCTCCATCTGTGAGGGCCAAG -3'
Posted On 2019-11-26