Incidental Mutation 'IGL03377:Slc9b2'
ID 420549
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03377
Quality Score
Status
Chromosome 3
Chromosomal Location 135013083-135048606 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 135042119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 466 (A466V)
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: A466V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060640
Gene: ENSMUSG00000037994
AA Change: A466V

DomainStartEndE-ValueType
transmembrane domain 83 102 N/A INTRINSIC
Pfam:Na_H_Exchanger 116 515 4.4e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132405
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
Validation Efficiency
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 T A 5: 105,096,256 (GRCm39) I489L probably benign Het
Acox3 T C 5: 35,751,676 (GRCm39) L237P probably damaging Het
Ahi1 T G 10: 20,893,903 (GRCm39) I878S possibly damaging Het
Alox15 T A 11: 70,240,488 (GRCm39) Y231F probably damaging Het
Asxl1 A T 2: 153,238,700 (GRCm39) K342M probably damaging Het
Atl2 T C 17: 80,172,519 (GRCm39) I150M probably damaging Het
Bag6 T C 17: 35,363,958 (GRCm39) Y822H probably damaging Het
Ccdc171 T C 4: 83,581,754 (GRCm39) Y628H probably damaging Het
Ceacam5 T A 7: 17,449,056 (GRCm39) Y141N probably benign Het
Ces1a A G 8: 93,766,116 (GRCm39) V166A probably damaging Het
Chrdl2 G A 7: 99,671,259 (GRCm39) A126T probably benign Het
Cyp2d26 T C 15: 82,674,755 (GRCm39) E409G possibly damaging Het
Dicer1 T C 12: 104,678,456 (GRCm39) I621V probably damaging Het
Enpp1 T A 10: 24,536,181 (GRCm39) probably null Het
Epha2 T A 4: 141,049,723 (GRCm39) S776R probably benign Het
Fam107b A T 2: 3,779,481 (GRCm39) E52V probably damaging Het
Fam169a A G 13: 97,228,381 (GRCm39) N18S probably benign Het
Fbxw21 A T 9: 108,968,597 (GRCm39) F460I probably benign Het
Fgfr2 A T 7: 129,800,247 (GRCm39) I329N probably damaging Het
Fndc7 T C 3: 108,783,848 (GRCm39) S254G probably benign Het
Glis1 T G 4: 107,489,478 (GRCm39) H688Q probably damaging Het
Grip1 A G 10: 119,890,937 (GRCm39) E898G probably damaging Het
Gtf2a1l T A 17: 89,019,021 (GRCm39) D368E probably benign Het
Gucy1a1 T A 3: 82,013,322 (GRCm39) H440L probably damaging Het
H2-M10.5 A T 17: 37,084,377 (GRCm39) D113V probably benign Het
Hook2 G T 8: 85,727,964 (GRCm39) E554* probably null Het
Itpr2 T A 6: 146,231,256 (GRCm39) T1135S probably benign Het
Itpr2 A C 6: 146,231,213 (GRCm39) V1182G probably damaging Het
Kdm4c T C 4: 74,189,492 (GRCm39) I69T possibly damaging Het
Klhl31 A T 9: 77,558,345 (GRCm39) K354* probably null Het
Krt222 T A 11: 99,127,339 (GRCm39) K159* probably null Het
Loxhd1 A G 18: 77,529,369 (GRCm39) E2004G possibly damaging Het
Man2a2 A T 7: 80,008,800 (GRCm39) probably null Het
Med24 A G 11: 98,595,962 (GRCm39) F963L possibly damaging Het
Mphosph8 A G 14: 56,930,943 (GRCm39) E744G probably damaging Het
Mypn A G 10: 63,028,644 (GRCm39) S140P probably benign Het
Npc1 A G 18: 12,344,878 (GRCm39) F331L probably benign Het
Obscn C A 11: 58,890,699 (GRCm39) G1798W probably damaging Het
Or5d18 A T 2: 87,864,589 (GRCm39) V298D probably damaging Het
Patj C T 4: 98,353,341 (GRCm39) P110L probably damaging Het
Pkhd1l1 T G 15: 44,347,747 (GRCm39) probably null Het
Prdm5 A G 6: 65,836,457 (GRCm39) H256R possibly damaging Het
Ralgps1 A G 2: 33,062,473 (GRCm39) Y267H probably damaging Het
Rfpl4 T G 7: 5,113,464 (GRCm39) Y239S probably damaging Het
Rnpepl1 A T 1: 92,846,953 (GRCm39) M592L probably benign Het
Serpinc1 A T 1: 160,821,012 (GRCm39) H32L probably damaging Het
Skint5 T A 4: 113,620,735 (GRCm39) T660S unknown Het
Slc26a2 T C 18: 61,331,658 (GRCm39) N591S probably damaging Het
Slco1a5 T A 6: 142,180,492 (GRCm39) T637S probably benign Het
Snx25 A G 8: 46,533,338 (GRCm39) probably benign Het
Szt2 T C 4: 118,259,594 (GRCm39) probably benign Het
Vmn1r183 A G 7: 23,754,817 (GRCm39) M207V possibly damaging Het
Wdcp T G 12: 4,900,691 (GRCm39) Y182* probably null Het
Zc3h13 A G 14: 75,531,416 (GRCm39) T105A possibly damaging Het
Zfp933 T C 4: 147,913,168 (GRCm39) K30R possibly 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
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
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
Posted On 2016-08-02