Incidental Mutation 'R7166:Slc9b2'
| ID |
568522 |
| 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 |
045227-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7166 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
135013083-135048606 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 135031939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 132
(Y132H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051849]
[ENSMUST00000145195]
|
| AlphaFold |
Q5BKR2 |
| Predicted Effect |
silent
Transcript: ENSMUST00000051849
|
| SMART Domains |
Protein: ENSMUSP00000060640
Gene: ENSMUSG00000037994
| 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 |
unknown
Transcript: ENSMUST00000145195
AA Change: Y132H
|
| SMART Domains |
Protein: ENSMUSP00000123083
Gene: ENSMUSG00000037994
AA Change: Y132H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
transmembrane domain
|
47 |
69 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (52/53) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambn |
T |
C |
5: 88,615,387 (GRCm39) |
L272P |
possibly damaging |
Het |
| Ash2l |
C |
A |
8: 26,317,348 (GRCm39) |
G335V |
probably damaging |
Het |
| Atp13a1 |
T |
A |
8: 70,251,966 (GRCm39) |
|
probably null |
Het |
| Atp13a2 |
G |
A |
4: 140,734,295 (GRCm39) |
R1139Q |
possibly damaging |
Het |
| Atxn2 |
T |
A |
5: 121,934,460 (GRCm39) |
N886K |
possibly damaging |
Het |
| Celsr3 |
G |
T |
9: 108,720,150 (GRCm39) |
C2512F |
probably damaging |
Het |
| Cfap221 |
A |
G |
1: 119,875,843 (GRCm39) |
V449A |
probably benign |
Het |
| Cfhr2 |
A |
T |
1: 139,758,839 (GRCm39) |
C70* |
probably null |
Het |
| Chfr |
C |
A |
5: 110,306,671 (GRCm39) |
P472Q |
probably benign |
Het |
| Crybg2 |
G |
A |
4: 133,788,193 (GRCm39) |
R22Q |
probably damaging |
Het |
| Eef2k |
T |
C |
7: 120,483,995 (GRCm39) |
F244L |
probably damaging |
Het |
| Efcab11 |
A |
T |
12: 99,849,614 (GRCm39) |
M23K |
|
Het |
| Eif4a3l2 |
A |
G |
6: 116,528,329 (GRCm39) |
I69V |
probably benign |
Het |
| Ercc8 |
T |
A |
13: 108,305,967 (GRCm39) |
M114K |
possibly damaging |
Het |
| Fam217a |
T |
C |
13: 35,094,298 (GRCm39) |
Y487C |
probably benign |
Het |
| Farsb |
T |
C |
1: 78,447,821 (GRCm39) |
N205S |
probably benign |
Het |
| Glra1 |
A |
G |
11: 55,405,904 (GRCm39) |
F370S |
probably benign |
Het |
| Gm12258 |
T |
A |
11: 58,749,299 (GRCm39) |
M158K |
|
Het |
| Gm14305 |
T |
A |
2: 176,412,736 (GRCm39) |
H209Q |
probably damaging |
Het |
| Gm4924 |
A |
T |
10: 82,214,035 (GRCm39) |
Q611L |
unknown |
Het |
| H4c11 |
A |
G |
13: 21,919,321 (GRCm39) |
H19R |
unknown |
Het |
| Haus6 |
T |
C |
4: 86,501,924 (GRCm39) |
E649G |
possibly damaging |
Het |
| Hlcs |
C |
T |
16: 94,063,585 (GRCm39) |
D345N |
possibly damaging |
Het |
| Htt |
C |
A |
5: 35,010,238 (GRCm39) |
Q1564K |
probably benign |
Het |
| Itpr1 |
G |
A |
6: 108,355,151 (GRCm39) |
V481I |
probably benign |
Het |
| Jak3 |
T |
C |
8: 72,134,960 (GRCm39) |
I531T |
probably damaging |
Het |
| Kng1 |
T |
A |
16: 22,898,428 (GRCm39) |
H609Q |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,746,446 (GRCm39) |
S4131T |
probably damaging |
Het |
| Npnt |
A |
G |
3: 132,653,889 (GRCm39) |
S31P |
probably damaging |
Het |
| Or1r1 |
A |
T |
11: 73,875,121 (GRCm39) |
F104L |
possibly damaging |
Het |
| Or4c100 |
A |
T |
2: 88,355,990 (GRCm39) |
Q21L |
possibly damaging |
Het |
| Or8h8 |
T |
A |
2: 86,753,092 (GRCm39) |
K261N |
probably damaging |
Het |
| Paxx |
A |
T |
2: 25,350,238 (GRCm39) |
L123Q |
probably damaging |
Het |
| Prdm13 |
C |
T |
4: 21,683,528 (GRCm39) |
R144Q |
unknown |
Het |
| Rab2b |
C |
A |
14: 52,516,802 (GRCm39) |
|
probably benign |
Het |
| Rnf207 |
A |
G |
4: 152,396,237 (GRCm39) |
I509T |
probably damaging |
Het |
| Ropn1l |
T |
C |
15: 31,453,655 (GRCm39) |
Q12R |
|
Het |
| Ryr3 |
T |
G |
2: 112,705,373 (GRCm39) |
Y847S |
probably damaging |
Het |
| Slc1a6 |
A |
T |
10: 78,648,646 (GRCm39) |
T456S |
possibly damaging |
Het |
| Slc26a2 |
A |
T |
18: 61,331,901 (GRCm39) |
M510K |
possibly damaging |
Het |
| Slc5a9 |
T |
C |
4: 111,741,036 (GRCm39) |
T537A |
probably benign |
Het |
| Sltm |
T |
C |
9: 70,492,132 (GRCm39) |
L725S |
probably damaging |
Het |
| Spz1 |
A |
G |
13: 92,712,435 (GRCm39) |
C14R |
probably benign |
Het |
| Srrm4 |
T |
A |
5: 116,609,301 (GRCm39) |
Q172L |
unknown |
Het |
| Synj2bp |
T |
C |
12: 81,551,289 (GRCm39) |
D92G |
probably benign |
Het |
| Tmem169 |
A |
C |
1: 72,340,229 (GRCm39) |
T220P |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,718,372 (GRCm39) |
I7270F |
unknown |
Het |
| Txndc16 |
T |
G |
14: 45,420,611 (GRCm39) |
N137H |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 37,976,389 (GRCm39) |
Y2499H |
|
Het |
| Ugt2b38 |
T |
C |
5: 87,558,305 (GRCm39) |
D452G |
probably damaging |
Het |
| Zfp12 |
T |
A |
5: 143,231,257 (GRCm39) |
I560N |
possibly damaging |
Het |
| Zfp60 |
A |
G |
7: 27,448,937 (GRCm39) |
K535R |
possibly damaging |
Het |
| Zfp960 |
T |
A |
17: 17,308,761 (GRCm39) |
C492S |
probably 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 |
|
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 |
|
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 |
|
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'- TATAGAAACACGGAGGCACTGTTAC -3'
(R):5'- AGGCAGGAGTAAGCAGCTTC -3'
Sequencing Primer
(F):5'- AGGCACTGTTACGAATTCCG -3'
(R):5'- CAGGAGTAAGCAGCTTCTGATTTG -3'
|
| Posted On |
2019-08-15 |
Incidental Mutation