Incidental Mutation 'R1503:Atp12a'
| ID |
169485 |
| 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 |
039553-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1503 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
56602525-56626007 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 56610881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 342
(N342Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007340]
|
| AlphaFold |
Q9Z1W8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007340
AA Change: N342Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000007340
Gene: ENSMUSG00000022229
AA Change: N342Y
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225567
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225698
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.0%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
| Atf7ip |
G |
T |
6: 136,583,865 (GRCm39) |
V1299L |
probably damaging |
Het |
| Atp8b5 |
G |
A |
4: 43,344,430 (GRCm39) |
G439D |
probably damaging |
Het |
| Bpifb2 |
G |
A |
2: 153,731,430 (GRCm39) |
D269N |
possibly damaging |
Het |
| Btd |
T |
G |
14: 31,389,612 (GRCm39) |
C444W |
probably damaging |
Het |
| Cacna1a |
A |
G |
8: 85,328,575 (GRCm39) |
D1624G |
probably benign |
Het |
| Carmil3 |
A |
C |
14: 55,735,737 (GRCm39) |
N563T |
probably damaging |
Het |
| Cars1 |
T |
C |
7: 143,122,726 (GRCm39) |
R538G |
probably benign |
Het |
| Catsperd |
A |
G |
17: 56,961,525 (GRCm39) |
K416E |
possibly damaging |
Het |
| Cc2d2a |
A |
T |
5: 43,852,581 (GRCm39) |
Y386F |
probably damaging |
Het |
| Ccpg1 |
A |
G |
9: 72,906,760 (GRCm39) |
N66S |
probably benign |
Het |
| Cd48 |
T |
A |
1: 171,523,415 (GRCm39) |
L86H |
probably damaging |
Het |
| Cdan1 |
A |
T |
2: 120,560,056 (GRCm39) |
H369Q |
probably damaging |
Het |
| Chil4 |
T |
C |
3: 106,113,350 (GRCm39) |
D189G |
probably benign |
Het |
| Cit |
T |
A |
5: 116,011,959 (GRCm39) |
Y189N |
possibly damaging |
Het |
| Cntn3 |
G |
A |
6: 102,441,526 (GRCm39) |
Q7* |
probably null |
Het |
| Csn1s2a |
A |
T |
5: 87,923,658 (GRCm39) |
I5F |
possibly damaging |
Het |
| Ctnnd1 |
C |
T |
2: 84,435,523 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
A |
T |
9: 54,354,272 (GRCm39) |
Y391* |
probably null |
Het |
| Dnah12 |
T |
C |
14: 26,495,649 (GRCm39) |
S1426P |
probably damaging |
Het |
| Dnhd1 |
T |
G |
7: 105,342,867 (GRCm39) |
S1404A |
possibly damaging |
Het |
| Drosha |
T |
A |
15: 12,848,159 (GRCm39) |
C484S |
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,582,736 (GRCm39) |
I125F |
probably damaging |
Het |
| Egfr |
T |
A |
11: 16,819,301 (GRCm39) |
M277K |
possibly damaging |
Het |
| Eml5 |
G |
T |
12: 98,797,433 (GRCm39) |
L1059I |
probably damaging |
Het |
| Erbb4 |
G |
T |
1: 68,385,705 (GRCm39) |
H295N |
probably benign |
Het |
| Etl4 |
T |
G |
2: 20,748,685 (GRCm39) |
V139G |
possibly damaging |
Het |
| Fhip1a |
T |
A |
3: 85,579,784 (GRCm39) |
Y807F |
possibly damaging |
Het |
| Frem3 |
A |
T |
8: 81,413,647 (GRCm39) |
E1969D |
probably damaging |
Het |
| Gdf3 |
T |
A |
6: 122,583,296 (GRCm39) |
D357V |
probably damaging |
Het |
| Gimap8 |
T |
A |
6: 48,624,463 (GRCm39) |
|
probably null |
Het |
| Gml2 |
C |
A |
15: 74,693,201 (GRCm39) |
S68* |
probably null |
Het |
| Gphn |
A |
G |
12: 78,551,403 (GRCm39) |
I248V |
possibly damaging |
Het |
| Greb1 |
A |
T |
12: 16,774,820 (GRCm39) |
Y192* |
probably null |
Het |
| Hmbs |
A |
C |
9: 44,248,729 (GRCm39) |
L215W |
probably benign |
Het |
| Iglon5 |
T |
A |
7: 43,128,449 (GRCm39) |
T123S |
probably benign |
Het |
| Ints2 |
C |
T |
11: 86,117,607 (GRCm39) |
R705H |
probably damaging |
Het |
| Ints8 |
A |
T |
4: 11,245,842 (GRCm39) |
L212Q |
probably damaging |
Het |
| Itgad |
A |
G |
7: 127,797,293 (GRCm39) |
Y846C |
probably benign |
Het |
| Kcnj1 |
A |
G |
9: 32,307,788 (GRCm39) |
T51A |
probably damaging |
Het |
| Kif9 |
A |
T |
9: 110,339,506 (GRCm39) |
K449N |
possibly damaging |
Het |
| Kifbp |
A |
G |
10: 62,395,187 (GRCm39) |
V485A |
probably damaging |
Het |
| Klk1b11 |
G |
A |
7: 43,428,333 (GRCm39) |
W241* |
probably null |
Het |
| Krt32 |
T |
C |
11: 99,974,936 (GRCm39) |
|
probably null |
Het |
| Loxl1 |
A |
G |
9: 58,200,923 (GRCm39) |
F513S |
probably damaging |
Het |
| Mapk8ip3 |
A |
T |
17: 25,123,897 (GRCm39) |
S571T |
probably damaging |
Het |
| Mcam |
C |
T |
9: 44,052,588 (GRCm39) |
R606C |
probably damaging |
Het |
| Mtss1 |
T |
C |
15: 58,823,521 (GRCm39) |
N282S |
probably damaging |
Het |
| Myh13 |
T |
A |
11: 67,244,500 (GRCm39) |
D1012E |
probably benign |
Het |
| Myo16 |
A |
G |
8: 10,552,817 (GRCm39) |
T952A |
probably benign |
Het |
| Neb |
T |
C |
2: 52,188,632 (GRCm39) |
D874G |
probably damaging |
Het |
| Nek11 |
A |
G |
9: 105,040,403 (GRCm39) |
Y553H |
probably damaging |
Het |
| Nr2c2 |
T |
A |
6: 92,082,312 (GRCm39) |
V9D |
probably benign |
Het |
| Nxf1 |
T |
A |
19: 8,739,800 (GRCm39) |
F51L |
probably benign |
Het |
| Or1e1f |
T |
G |
11: 73,855,394 (GRCm39) |
|
probably null |
Het |
| Or1j15 |
A |
T |
2: 36,458,885 (GRCm39) |
I92F |
probably damaging |
Het |
| Or2aj5 |
A |
G |
16: 19,425,062 (GRCm39) |
S119P |
probably benign |
Het |
| Or4c35 |
T |
C |
2: 89,808,872 (GRCm39) |
V250A |
probably damaging |
Het |
| Or5bw2 |
A |
G |
7: 6,573,470 (GRCm39) |
N160S |
probably damaging |
Het |
| Or6s1 |
A |
G |
14: 51,308,191 (GRCm39) |
S220P |
probably damaging |
Het |
| Or6z6 |
T |
C |
7: 6,491,178 (GRCm39) |
I232V |
probably damaging |
Het |
| Pcdhb8 |
A |
T |
18: 37,489,572 (GRCm39) |
N76Y |
probably damaging |
Het |
| Pdzrn4 |
T |
A |
15: 92,297,685 (GRCm39) |
F217I |
probably damaging |
Het |
| Ppp1r16a |
T |
A |
15: 76,578,599 (GRCm39) |
H434Q |
probably benign |
Het |
| Prpf19 |
T |
A |
19: 10,878,386 (GRCm39) |
F291I |
possibly damaging |
Het |
| R3hdm2 |
G |
T |
10: 127,307,695 (GRCm39) |
E319* |
probably null |
Het |
| Sel1l3 |
A |
G |
5: 53,295,271 (GRCm39) |
Y777H |
probably damaging |
Het |
| Serpinb5 |
G |
A |
1: 106,798,019 (GRCm39) |
A3T |
possibly damaging |
Het |
| Skp2 |
C |
A |
15: 9,127,998 (GRCm39) |
V88F |
probably damaging |
Het |
| Slc25a16 |
T |
C |
10: 62,764,155 (GRCm39) |
Y71H |
probably damaging |
Het |
| Slc6a6 |
T |
A |
6: 91,717,973 (GRCm39) |
I304N |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Sox17 |
C |
A |
1: 4,562,151 (GRCm39) |
G222C |
probably damaging |
Het |
| Trmu |
T |
A |
15: 85,779,220 (GRCm39) |
V289E |
possibly damaging |
Het |
| Vdac2 |
A |
G |
14: 21,887,945 (GRCm39) |
E96G |
probably damaging |
Het |
| Wdhd1 |
A |
T |
14: 47,484,857 (GRCm39) |
D885E |
probably benign |
Het |
| Zfp646 |
A |
G |
7: 127,479,308 (GRCm39) |
N495S |
probably damaging |
Het |
| Zfp663 |
T |
C |
2: 165,194,573 (GRCm39) |
T549A |
probably damaging |
Het |
| Zfp935 |
G |
A |
13: 62,602,951 (GRCm39) |
A83V |
possibly damaging |
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 |
|
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 |
|
|
R8670:Atp12a
|
UTSW |
14 |
56,617,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GGCTTCTATTCTACAACGTGCCTGG -3'
(R):5'- AAACAGGCCCATAGTGGTCTCTGG -3'
Sequencing Primer
(F):5'- TGGCATTGTCATCAACACGG -3'
(R):5'- TCTGGAGGGGACAGTGTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation