Incidental Mutation 'R4127:Slc9b2'
| ID |
315428 |
| 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 |
040860-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4127 (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 135035598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 356
(Y356H)
|
| 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: Y356H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000060640
Gene: ENSMUSG00000037994
AA Change: Y356H
| 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 |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,141,973 (GRCm39) |
H3R |
probably benign |
Het |
| Actg2 |
A |
T |
6: 83,499,866 (GRCm39) |
F128Y |
possibly damaging |
Het |
| Ankrd6 |
G |
A |
4: 32,822,241 (GRCm39) |
T176M |
probably damaging |
Het |
| Atp6ap1l |
T |
C |
13: 91,046,826 (GRCm39) |
D117G |
probably damaging |
Het |
| Cd209b |
A |
G |
8: 3,968,714 (GRCm39) |
I284T |
probably damaging |
Het |
| Cfl2 |
C |
T |
12: 54,908,143 (GRCm39) |
A123T |
probably benign |
Het |
| Cgnl1 |
T |
C |
9: 71,631,822 (GRCm39) |
T510A |
probably benign |
Het |
| Chn2 |
G |
T |
6: 54,249,963 (GRCm39) |
R24M |
probably damaging |
Het |
| Cyfip2 |
T |
C |
11: 46,161,474 (GRCm39) |
I339V |
probably benign |
Het |
| Etl4 |
C |
T |
2: 20,748,886 (GRCm39) |
P539L |
possibly damaging |
Het |
| Fras1 |
A |
G |
5: 96,918,512 (GRCm39) |
D3516G |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,433,317 (GRCm39) |
Y2669C |
probably damaging |
Het |
| Gga2 |
G |
T |
7: 121,601,943 (GRCm39) |
H205N |
probably damaging |
Het |
| Gm5592 |
G |
A |
7: 40,938,491 (GRCm39) |
G591D |
probably benign |
Het |
| Gtf3c1 |
A |
T |
7: 125,246,622 (GRCm39) |
C1562* |
probably null |
Het |
| Heatr3 |
T |
A |
8: 88,864,939 (GRCm39) |
C59S |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,060,603 (GRCm39) |
M2024T |
possibly damaging |
Het |
| Jarid2 |
T |
C |
13: 45,055,732 (GRCm39) |
S313P |
probably damaging |
Het |
| Lzts3 |
A |
G |
2: 130,477,285 (GRCm39) |
S502P |
probably damaging |
Het |
| Or5d36 |
A |
G |
2: 87,901,579 (GRCm39) |
V49A |
probably benign |
Het |
| Pcdhb2 |
A |
T |
18: 37,428,594 (GRCm39) |
D189V |
probably damaging |
Het |
| Pias3 |
G |
T |
3: 96,606,982 (GRCm39) |
G82C |
probably damaging |
Het |
| Polg |
T |
C |
7: 79,105,285 (GRCm39) |
E753G |
probably damaging |
Het |
| Pus10 |
T |
C |
11: 23,668,654 (GRCm39) |
|
probably null |
Het |
| Pxn |
A |
G |
5: 115,684,966 (GRCm39) |
R264G |
probably damaging |
Het |
| Rag1 |
A |
G |
2: 101,472,416 (GRCm39) |
Y909H |
probably damaging |
Het |
| Rell2 |
A |
G |
18: 38,091,267 (GRCm39) |
H144R |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,602,323 (GRCm39) |
V4520I |
possibly damaging |
Het |
| Scp2 |
A |
G |
4: 107,921,181 (GRCm39) |
F10L |
probably benign |
Het |
| Sorcs1 |
T |
C |
19: 50,210,597 (GRCm39) |
D756G |
probably benign |
Het |
| Stra6 |
T |
A |
9: 58,058,501 (GRCm39) |
V454E |
probably damaging |
Het |
| Tbc1d8 |
T |
C |
1: 39,411,512 (GRCm39) |
N1108S |
probably benign |
Het |
| Tep1 |
C |
T |
14: 51,081,191 (GRCm39) |
R1349Q |
possibly damaging |
Het |
| Tmem132d |
T |
C |
5: 128,345,884 (GRCm39) |
R213G |
probably benign |
Het |
| Ubash3a |
T |
C |
17: 31,456,249 (GRCm39) |
Y506H |
probably damaging |
Het |
| Xcr1 |
A |
C |
9: 123,685,561 (GRCm39) |
V67G |
probably damaging |
Het |
| Zranb2 |
C |
A |
3: 157,243,227 (GRCm39) |
C74* |
probably null |
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 |
|
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'- GATAATGGCCCTGGAAATTCAAC -3'
(R):5'- TCCACATAGTTCAAATGAGCAATAC -3'
Sequencing Primer
(F):5'- TGGCCCTGGAAATTCAACTAAAG -3'
(R):5'- CTCATGCCTGCTAGGAAA -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation