Incidental Mutation 'R4401:Slc9b2'
| ID |
326620 |
| 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 |
041132-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4401 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
135013083-135048606 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 135042305 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 528
(V528A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051849]
[ENSMUST00000145195]
|
| AlphaFold |
Q5BKR2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051849
AA Change: V528A
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000060640
Gene: ENSMUSG00000037994
AA Change: V528A
| 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 |
|
| Meta Mutation Damage Score |
0.0584 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
G |
5: 8,752,390 (GRCm39) |
I454V |
possibly damaging |
Het |
| Acvr2a |
A |
G |
2: 48,789,714 (GRCm39) |
T486A |
probably benign |
Het |
| Ap3b1 |
C |
A |
13: 94,554,607 (GRCm39) |
L248I |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 4,990,145 (GRCm39) |
C157S |
probably damaging |
Het |
| Cage1 |
T |
A |
13: 38,207,078 (GRCm39) |
I256F |
probably damaging |
Het |
| Cct2 |
A |
G |
10: 116,893,714 (GRCm39) |
I287T |
possibly damaging |
Het |
| Cntn4 |
A |
G |
6: 106,466,625 (GRCm39) |
T176A |
possibly damaging |
Het |
| Cracd |
G |
A |
5: 76,996,763 (GRCm39) |
V74I |
probably damaging |
Het |
| Cyp2c54 |
T |
C |
19: 40,060,615 (GRCm39) |
N122S |
probably benign |
Het |
| Cytip |
T |
C |
2: 58,023,947 (GRCm39) |
D291G |
probably benign |
Het |
| Eef1d |
C |
T |
15: 75,774,769 (GRCm39) |
V213I |
probably benign |
Het |
| Fnbp4 |
A |
G |
2: 90,577,102 (GRCm39) |
T145A |
possibly damaging |
Het |
| Fras1 |
C |
A |
5: 96,790,479 (GRCm39) |
T951K |
probably damaging |
Het |
| Gm11937 |
C |
T |
11: 99,500,901 (GRCm39) |
V39M |
probably damaging |
Het |
| Gm6712 |
C |
T |
17: 17,538,366 (GRCm39) |
|
noncoding transcript |
Het |
| Hira |
A |
G |
16: 18,744,470 (GRCm39) |
I352V |
probably damaging |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Lpcat2 |
T |
C |
8: 93,599,683 (GRCm39) |
V217A |
possibly damaging |
Het |
| Mroh2a |
G |
T |
1: 88,182,657 (GRCm39) |
R1195L |
possibly damaging |
Het |
| Or2a25 |
G |
T |
6: 42,889,260 (GRCm39) |
E268* |
probably null |
Het |
| Or4k35 |
A |
G |
2: 111,100,178 (GRCm39) |
F178S |
probably damaging |
Het |
| Or51f5 |
C |
T |
7: 102,424,006 (GRCm39) |
R92* |
probably null |
Het |
| Pla2g1b |
T |
A |
5: 115,608,947 (GRCm39) |
Y47* |
probably null |
Het |
| Rfng |
A |
T |
11: 120,673,306 (GRCm39) |
V245E |
possibly damaging |
Het |
| Rpf2 |
A |
G |
10: 40,112,124 (GRCm39) |
V104A |
possibly damaging |
Het |
| Rps6kc1 |
G |
T |
1: 190,532,155 (GRCm39) |
H616N |
probably benign |
Het |
| Slc66a1 |
T |
C |
4: 139,033,854 (GRCm39) |
I22V |
probably benign |
Het |
| Srgap1 |
T |
C |
10: 121,640,826 (GRCm39) |
|
probably null |
Het |
| Trrap |
A |
G |
5: 144,780,128 (GRCm39) |
T3240A |
possibly damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Zfhx4 |
C |
A |
3: 5,468,405 (GRCm39) |
Y2854* |
probably null |
Het |
| Zfp986 |
C |
T |
4: 145,625,513 (GRCm39) |
R58C |
probably benign |
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 |
|
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 |
|
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'- GCTAACACTTTCGTAGGCTGC -3'
(R):5'- CAGATGAGGCTATGGACCTTGG -3'
Sequencing Primer
(F):5'- AACACTTTCGTAGGCTGCCATTG -3'
(R):5'- AGGCTATGGACCTTGGTCTTTC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation