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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |