Incidental Mutation 'R8670:Atp12a'
| ID |
661119 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp12a
|
| Ensembl Gene |
ENSMUSG00000022229 |
| Gene Name |
ATPase, H+/K+ transporting, nongastric, alpha polypeptide |
| Synonyms |
cHKA, Atp1al1, HKalpha2, ATPase H+K+-transporting, alpha 2 |
| MMRRC Submission |
068525-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8670 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
56602525-56626007 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 56617546 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 612
(D612V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007340]
|
| AlphaFold |
Q9Z1W8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007340
AA Change: D612V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000007340
Gene: ENSMUSG00000022229
AA Change: D612V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
36 |
N/A |
INTRINSIC |
|
Cation_ATPase_N
|
54 |
128 |
9.27e-15 |
SMART |
|
Pfam:E1-E2_ATPase
|
145 |
376 |
9.8e-57 |
PFAM |
|
Pfam:Hydrolase
|
381 |
740 |
7.8e-20 |
PFAM |
|
Pfam:HAD
|
384 |
737 |
7.6e-19 |
PFAM |
|
Pfam:Cation_ATPase
|
437 |
532 |
3.4e-26 |
PFAM |
|
Pfam:Cation_ATPase_C
|
810 |
1020 |
9.9e-44 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This gene encodes a catalytic subunit of the ouabain-sensitive H+/K+ -ATPase that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for potassium absorption in various tissues. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
PHENOTYPE: Homozygous mutation of this gene results in increased potassium excretion. When placed on a potassium-free diet, mutant animals display greater weight loss and slightly increased kidney weight compared to wild-type. [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 |
|---|
| Abca8a |
A |
T |
11: 109,966,424 (GRCm39) |
L403Q |
probably damaging |
Het |
| Actl11 |
T |
C |
9: 107,805,959 (GRCm39) |
F94S |
possibly damaging |
Het |
| Adam34 |
C |
T |
8: 44,105,126 (GRCm39) |
C173Y |
possibly damaging |
Het |
| Ankrd24 |
C |
T |
10: 81,465,526 (GRCm39) |
|
probably benign |
Het |
| Armh2 |
A |
G |
13: 24,930,240 (GRCm39) |
E162G |
probably benign |
Het |
| Cacna2d1 |
T |
C |
5: 16,140,013 (GRCm39) |
M1T |
probably null |
Het |
| Ccdc178 |
T |
C |
18: 22,230,719 (GRCm39) |
E384G |
possibly damaging |
Het |
| Cd82 |
T |
A |
2: 93,250,905 (GRCm39) |
T212S |
probably benign |
Het |
| Cdk17 |
T |
A |
10: 93,061,958 (GRCm39) |
L263* |
probably null |
Het |
| Cfap57 |
T |
G |
4: 118,472,122 (GRCm39) |
I86L |
possibly damaging |
Het |
| Chd5 |
T |
C |
4: 152,469,953 (GRCm39) |
M1842T |
possibly damaging |
Het |
| Clcn7 |
T |
C |
17: 25,378,588 (GRCm39) |
F691S |
probably damaging |
Het |
| Cpvl |
A |
T |
6: 53,951,780 (GRCm39) |
M1K |
probably null |
Het |
| Cym |
T |
C |
3: 107,118,812 (GRCm39) |
|
probably null |
Het |
| Diaph3 |
T |
C |
14: 86,893,835 (GRCm39) |
E1147G |
probably benign |
Het |
| Eif4g3 |
T |
G |
4: 137,885,823 (GRCm39) |
|
probably null |
Het |
| Esp3 |
A |
G |
17: 40,943,040 (GRCm39) |
D11G |
probably benign |
Het |
| Exoc1 |
A |
G |
5: 76,717,505 (GRCm39) |
Y865C |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,108,791 (GRCm39) |
Q273L |
probably damaging |
Het |
| Fuca1 |
G |
A |
4: 135,650,282 (GRCm39) |
V118I |
possibly damaging |
Het |
| Gga3 |
T |
C |
11: 115,478,542 (GRCm39) |
N417D |
probably benign |
Het |
| Il1rl1 |
A |
T |
1: 40,480,559 (GRCm39) |
I63F |
probably damaging |
Het |
| Kif26b |
A |
G |
1: 178,741,349 (GRCm39) |
Y785C |
probably damaging |
Het |
| Kif5b |
A |
C |
18: 6,214,631 (GRCm39) |
S599A |
probably benign |
Het |
| Klhl22 |
T |
A |
16: 17,594,327 (GRCm39) |
I152N |
probably damaging |
Het |
| Mex3c |
GC |
G |
18: 73,722,776 (GRCm39) |
|
probably null |
Het |
| Muc21 |
T |
A |
17: 35,932,540 (GRCm39) |
T549S |
unknown |
Het |
| Or52n2c |
A |
T |
7: 104,574,419 (GRCm39) |
M184K |
probably damaging |
Het |
| Or8g2 |
A |
G |
9: 39,821,719 (GRCm39) |
I207V |
probably benign |
Het |
| Orc3 |
A |
T |
4: 34,572,529 (GRCm39) |
I633N |
probably damaging |
Het |
| Pclo |
G |
A |
5: 14,732,061 (GRCm39) |
R3521H |
unknown |
Het |
| Plec |
A |
G |
15: 76,061,726 (GRCm39) |
L2737P |
probably damaging |
Het |
| Prom1 |
T |
A |
5: 44,159,186 (GRCm39) |
I813F |
probably benign |
Het |
| Prpf40b |
T |
A |
15: 99,207,621 (GRCm39) |
M517K |
probably damaging |
Het |
| Rab8a |
TA |
TAA |
8: 72,925,130 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
T |
C |
11: 119,349,563 (GRCm39) |
L3808P |
|
Het |
| Scnn1b |
A |
G |
7: 121,498,472 (GRCm39) |
K4R |
probably benign |
Het |
| Siglec1 |
A |
G |
2: 130,923,387 (GRCm39) |
S453P |
probably damaging |
Het |
| Sim1 |
A |
G |
10: 50,784,849 (GRCm39) |
K165E |
probably damaging |
Het |
| Slc49a4 |
G |
T |
16: 35,556,005 (GRCm39) |
Q152K |
possibly damaging |
Het |
| Slco1a7 |
G |
A |
6: 141,711,468 (GRCm39) |
T81I |
possibly damaging |
Het |
| Smarce1 |
T |
C |
11: 99,101,098 (GRCm39) |
T345A |
possibly damaging |
Het |
| Spty2d1 |
T |
C |
7: 46,647,519 (GRCm39) |
N470S |
probably benign |
Het |
| Stab2 |
T |
A |
10: 86,776,587 (GRCm39) |
D763V |
probably damaging |
Het |
| Tbl1xr1 |
A |
T |
3: 22,245,164 (GRCm39) |
E171D |
probably damaging |
Het |
| Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,064,746 (GRCm39) |
I1392K |
probably benign |
Het |
| Thada |
T |
C |
17: 84,739,774 (GRCm39) |
E827G |
probably benign |
Het |
| Ttc3 |
A |
G |
16: 94,191,067 (GRCm39) |
Y185C |
probably damaging |
Het |
| Vmn2r18 |
C |
A |
5: 151,485,854 (GRCm39) |
D547Y |
probably damaging |
Het |
| Wdpcp |
T |
C |
11: 21,645,196 (GRCm39) |
V208A |
probably benign |
Het |
| Zfp322a |
T |
A |
13: 23,541,274 (GRCm39) |
Q156L |
possibly damaging |
Het |
| Zfp947 |
T |
C |
17: 22,364,687 (GRCm39) |
D329G |
probably benign |
Het |
|
| Other mutations in Atp12a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01382:Atp12a
|
APN |
14 |
56,617,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02108:Atp12a
|
APN |
14 |
56,621,525 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02176:Atp12a
|
APN |
14 |
56,624,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02210:Atp12a
|
APN |
14 |
56,609,201 (GRCm39) |
nonsense |
probably null |
|
|
IGL02828:Atp12a
|
APN |
14 |
56,613,599 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02868:Atp12a
|
APN |
14 |
56,621,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02876:Atp12a
|
APN |
14 |
56,610,746 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0045:Atp12a
|
UTSW |
14 |
56,610,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0172:Atp12a
|
UTSW |
14 |
56,610,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0276:Atp12a
|
UTSW |
14 |
56,625,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0613:Atp12a
|
UTSW |
14 |
56,611,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0656:Atp12a
|
UTSW |
14 |
56,611,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0962:Atp12a
|
UTSW |
14 |
56,605,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1067:Atp12a
|
UTSW |
14 |
56,610,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1448:Atp12a
|
UTSW |
14 |
56,623,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1503:Atp12a
|
UTSW |
14 |
56,610,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1590:Atp12a
|
UTSW |
14 |
56,617,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1639:Atp12a
|
UTSW |
14 |
56,621,525 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1660:Atp12a
|
UTSW |
14 |
56,608,305 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1696:Atp12a
|
UTSW |
14 |
56,603,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1775:Atp12a
|
UTSW |
14 |
56,610,046 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1920:Atp12a
|
UTSW |
14 |
56,624,308 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2022:Atp12a
|
UTSW |
14 |
56,602,739 (GRCm39) |
start codon destroyed |
probably null |
|
|
R2071:Atp12a
|
UTSW |
14 |
56,603,466 (GRCm39) |
missense |
probably benign |
|
|
R2253:Atp12a
|
UTSW |
14 |
56,613,715 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2289:Atp12a
|
UTSW |
14 |
56,610,719 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2567:Atp12a
|
UTSW |
14 |
56,624,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2870:Atp12a
|
UTSW |
14 |
56,624,407 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2870:Atp12a
|
UTSW |
14 |
56,624,407 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2872:Atp12a
|
UTSW |
14 |
56,624,407 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2872:Atp12a
|
UTSW |
14 |
56,624,407 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2873:Atp12a
|
UTSW |
14 |
56,624,407 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2923:Atp12a
|
UTSW |
14 |
56,612,079 (GRCm39) |
missense |
probably benign |
|
|
R3736:Atp12a
|
UTSW |
14 |
56,611,884 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3754:Atp12a
|
UTSW |
14 |
56,610,045 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5028:Atp12a
|
UTSW |
14 |
56,624,435 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5267:Atp12a
|
UTSW |
14 |
56,621,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5481:Atp12a
|
UTSW |
14 |
56,610,846 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5590:Atp12a
|
UTSW |
14 |
56,610,837 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5842:Atp12a
|
UTSW |
14 |
56,615,747 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5899:Atp12a
|
UTSW |
14 |
56,610,801 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5985:Atp12a
|
UTSW |
14 |
56,621,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6044:Atp12a
|
UTSW |
14 |
56,613,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6271:Atp12a
|
UTSW |
14 |
56,615,879 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6454:Atp12a
|
UTSW |
14 |
56,608,290 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6461:Atp12a
|
UTSW |
14 |
56,610,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6610:Atp12a
|
UTSW |
14 |
56,612,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6666:Atp12a
|
UTSW |
14 |
56,610,821 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6667:Atp12a
|
UTSW |
14 |
56,621,645 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6677:Atp12a
|
UTSW |
14 |
56,618,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6791:Atp12a
|
UTSW |
14 |
56,624,439 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7003:Atp12a
|
UTSW |
14 |
56,610,837 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7173:Atp12a
|
UTSW |
14 |
56,621,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7523:Atp12a
|
UTSW |
14 |
56,603,425 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8063:Atp12a
|
UTSW |
14 |
56,603,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8376:Atp12a
|
UTSW |
14 |
56,612,083 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0004:Atp12a
|
UTSW |
14 |
56,615,924 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1088:Atp12a
|
UTSW |
14 |
56,623,598 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1176:Atp12a
|
UTSW |
14 |
56,610,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Atp12a
|
UTSW |
14 |
56,610,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCTTGTACCCAGCAGCTG -3'
(R):5'- TGCTTTGGAGGACAGTTACCC -3'
Sequencing Primer
(F):5'- AGTACCTCCCATATGTTAAGCATGC -3'
(R):5'- GCTTTGGAGGACAGTTACCCAAATC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation