Incidental Mutation 'R3805:Slc9b2'
ID 274541
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 040762-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3805 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 135013083-135048606 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135030349 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 222 (L222P)
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: L222P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000060640
Gene: ENSMUSG00000037994
AA Change: L222P

DomainStartEndE-ValueType
transmembrane domain 83 102 N/A INTRINSIC
Pfam:Na_H_Exchanger 116 515 4.4e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126034
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
Meta Mutation Damage Score 0.3953 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 100% (41/41)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Aebp2 GCGGCC GCGGCCGGCC 6: 140,589,675 (GRCm39) probably null Het
Ano5 T C 7: 51,226,398 (GRCm39) F584L probably benign Het
Ap1b1 T A 11: 4,983,225 (GRCm39) probably null Het
Bicd1 T A 6: 149,420,489 (GRCm39) L780M probably damaging Het
Ccdc138 T C 10: 58,397,819 (GRCm39) I553T possibly damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Crct1 C A 3: 92,922,014 (GRCm39) probably benign Het
Ctu1 T C 7: 43,326,097 (GRCm39) L252P probably damaging Het
Dhrs2 A T 14: 55,472,205 (GRCm39) N32I probably benign Het
Dnah1 A T 14: 31,016,720 (GRCm39) M1599K possibly damaging Het
Eri2 A T 7: 119,385,231 (GRCm39) C423* probably null Het
Fam169a G A 13: 97,234,192 (GRCm39) V155I probably benign Het
Get4 G T 5: 139,238,286 (GRCm39) V23F probably damaging Het
Hdac3 A G 18: 38,078,745 (GRCm39) probably null Het
Herc3 C A 6: 58,893,835 (GRCm39) H970Q probably damaging Het
Htt A G 5: 35,034,548 (GRCm39) probably null Het
Ifit1 A G 19: 34,625,556 (GRCm39) I231V probably damaging Het
Lingo4 A G 3: 94,309,407 (GRCm39) D115G probably damaging Het
Lrrc7 T C 3: 157,891,130 (GRCm39) I346V probably benign Het
Map7d1 A T 4: 126,131,084 (GRCm39) probably null Het
Morf4l1 A G 9: 89,977,196 (GRCm39) S203P probably benign Het
Naaladl1 A G 19: 6,164,895 (GRCm39) T628A probably benign Het
Nlrp9a T A 7: 26,264,277 (GRCm39) C643* probably null Het
Or4ac1-ps1 A T 2: 88,370,700 (GRCm39) noncoding transcript Het
Or4b1 T G 2: 89,978,805 (GRCm39) probably benign Het
Oxtr T C 6: 112,454,147 (GRCm39) K39R probably benign Het
Ppp4r4 T A 12: 103,566,625 (GRCm39) M24K probably damaging Het
Ppp6r2 T C 15: 89,149,842 (GRCm39) F256L probably benign Het
Robo4 A T 9: 37,315,734 (GRCm39) D329V possibly damaging Het
Rsph10b G A 5: 143,895,206 (GRCm39) probably null Het
Speer4a1 C T 5: 26,240,082 (GRCm39) E223K possibly damaging Het
St18 T A 1: 6,872,577 (GRCm39) L104H probably damaging Het
Tmem184c C A 8: 78,323,504 (GRCm39) D453Y unknown Het
Trpv1 A T 11: 73,143,879 (GRCm39) N237I probably damaging Het
Vmn2r77 T A 7: 86,444,368 (GRCm39) L7* probably null 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
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
R7750:Slc9b2 UTSW 3 135,031,998 (GRCm39) missense probably damaging 1.00
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'- GGGCACACTGTCTCTCAAAC -3'
(R):5'- CAAATGGTGCTGAAGTGACTATG -3'

Sequencing Primer
(F):5'- GCTAATTAGCTGAAGAACCCTTGAC -3'
(R):5'- ATGGAGTCAGGAAGTTCC -3'
Posted On 2015-04-02