Incidental Mutation 'IGL03377:Slc9b2'
ID420549
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc9b2
Ensembl Gene ENSMUSG00000037994
Gene Namesolute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2
SynonymsC80638, nha-oc, Nhedc2, NHE10, NHA2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03377
Quality Score
Status
Chromosome3
Chromosomal Location135307700-135345387 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 135336358 bp
ZygosityHeterozygous
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]
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: 104,948,390 I489L probably benign Het
Acox3 T C 5: 35,594,332 L237P probably damaging Het
Ahi1 T G 10: 21,018,004 I878S possibly damaging Het
Alox15 T A 11: 70,349,662 Y231F probably damaging Het
Asxl1 A T 2: 153,396,780 K342M probably damaging Het
Atl2 T C 17: 79,865,090 I150M probably damaging Het
Bag6 T C 17: 35,144,982 Y822H probably damaging Het
Ccdc171 T C 4: 83,663,517 Y628H probably damaging Het
Ceacam5 T A 7: 17,715,131 Y141N probably benign Het
Ces1a A G 8: 93,039,488 V166A probably damaging Het
Chrdl2 G A 7: 100,022,052 A126T probably benign Het
Cyp2d26 T C 15: 82,790,554 E409G possibly damaging Het
Dicer1 T C 12: 104,712,197 I621V probably damaging Het
Enpp1 T A 10: 24,660,283 probably null Het
Epha2 T A 4: 141,322,412 S776R probably benign Het
Fam107b A T 2: 3,778,444 E52V probably damaging Het
Fam169a A G 13: 97,091,873 N18S probably benign Het
Fbxw21 A T 9: 109,139,529 F460I probably benign Het
Fgfr2 A T 7: 130,198,517 I329N probably damaging Het
Fndc7 T C 3: 108,876,532 S254G probably benign Het
Glis1 T G 4: 107,632,281 H688Q probably damaging Het
Grip1 A G 10: 120,055,032 E898G probably damaging Het
Gtf2a1l T A 17: 88,711,593 D368E probably benign Het
Gucy1a1 T A 3: 82,106,015 H440L probably damaging Het
H2-M10.5 A T 17: 36,773,485 D113V probably benign Het
Hook2 G T 8: 85,001,335 E554* probably null Het
Itpr2 A C 6: 146,329,715 V1182G probably damaging Het
Itpr2 T A 6: 146,329,758 T1135S probably benign Het
Kdm4c T C 4: 74,271,255 I69T possibly damaging Het
Klhl31 A T 9: 77,651,063 K354* probably null Het
Krt222 T A 11: 99,236,513 K159* probably null Het
Loxhd1 A G 18: 77,441,673 E2004G possibly damaging Het
Man2a2 A T 7: 80,359,052 probably null Het
Med24 A G 11: 98,705,136 F963L possibly damaging Het
Mphosph8 A G 14: 56,693,486 E744G probably damaging Het
Mypn A G 10: 63,192,865 S140P probably benign Het
Npc1 A G 18: 12,211,821 F331L probably benign Het
Obscn C A 11: 58,999,873 G1798W probably damaging Het
Olfr73 A T 2: 88,034,245 V298D probably damaging Het
Patj C T 4: 98,465,104 P110L probably damaging Het
Pkhd1l1 T G 15: 44,484,351 probably null Het
Prdm5 A G 6: 65,859,473 H256R possibly damaging Het
Ralgps1 A G 2: 33,172,461 Y267H probably damaging Het
Rfpl4 T G 7: 5,110,465 Y239S probably damaging Het
Rnpepl1 A T 1: 92,919,231 M592L probably benign Het
Serpinc1 A T 1: 160,993,442 H32L probably damaging Het
Skint5 T A 4: 113,763,538 T660S unknown Het
Slc26a2 T C 18: 61,198,586 N591S probably damaging Het
Slco1a5 T A 6: 142,234,766 T637S probably benign Het
Snx25 A G 8: 46,080,301 probably benign Het
Szt2 T C 4: 118,402,397 probably benign Het
Vmn1r183 A G 7: 24,055,392 M207V possibly damaging Het
Wdcp T G 12: 4,850,691 Y182* probably null Het
Zc3h13 A G 14: 75,293,976 T105A possibly damaging Het
Zfp933 T C 4: 147,828,711 K30R possibly damaging Het
Other mutations in Slc9b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01626:Slc9b2 APN 3 135336395 missense probably benign 0.17
IGL03091:Slc9b2 APN 3 135329030 missense probably damaging 0.97
IGL03203:Slc9b2 APN 3 135326212 missense probably damaging 1.00
IGL02988:Slc9b2 UTSW 3 135318418 missense probably benign 0.02
R0008:Slc9b2 UTSW 3 135336508 missense possibly damaging 0.72
R0382:Slc9b2 UTSW 3 135318422 missense probably damaging 0.99
R0628:Slc9b2 UTSW 3 135323775 splice site probably benign
R1263:Slc9b2 UTSW 3 135336395 missense probably benign 0.17
R1478:Slc9b2 UTSW 3 135326102 missense probably benign 0.45
R1809:Slc9b2 UTSW 3 135317131 missense possibly damaging 0.90
R2060:Slc9b2 UTSW 3 135326266 missense probably damaging 0.99
R2119:Slc9b2 UTSW 3 135328982 splice site probably null
R3196:Slc9b2 UTSW 3 135336529 missense probably benign 0.04
R3805:Slc9b2 UTSW 3 135324588 missense probably damaging 1.00
R4127:Slc9b2 UTSW 3 135329837 missense probably benign 0.00
R4401:Slc9b2 UTSW 3 135336544 missense probably benign 0.04
R4402:Slc9b2 UTSW 3 135336544 missense probably benign 0.04
R4622:Slc9b2 UTSW 3 135332518 missense probably damaging 1.00
R6125:Slc9b2 UTSW 3 135330696 splice site probably null
R7081:Slc9b2 UTSW 3 135321937 missense probably benign 0.10
R7166:Slc9b2 UTSW 3 135326178 missense unknown
R7203:Slc9b2 UTSW 3 135330661 missense probably benign 0.04
R7307:Slc9b2 UTSW 3 135318390 missense probably benign 0.03
Posted On2016-08-02