Incidental Mutation 'IGL02176:Atp12a'
| ID |
283110 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02176
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
56602525-56626007 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 56624636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 972
(S972L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007340]
|
| AlphaFold |
Q9Z1W8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007340
AA Change: S972L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000007340
Gene: ENSMUSG00000022229
AA Change: S972L
| 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
|
| Coding Region Coverage |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
G |
T |
10: 20,846,815 (GRCm39) |
R415L |
probably benign |
Het |
| Ankle1 |
C |
A |
8: 71,858,903 (GRCm39) |
H45Q |
probably damaging |
Het |
| Anks1b |
A |
T |
10: 89,878,530 (GRCm39) |
H113L |
probably damaging |
Het |
| Arhgap33 |
T |
A |
7: 30,223,476 (GRCm39) |
H851L |
possibly damaging |
Het |
| Atrip |
T |
C |
9: 108,896,114 (GRCm39) |
D301G |
probably benign |
Het |
| Bckdk |
A |
G |
7: 127,505,545 (GRCm39) |
T223A |
probably benign |
Het |
| C3 |
C |
A |
17: 57,533,337 (GRCm39) |
|
probably benign |
Het |
| C8g |
A |
G |
2: 25,389,122 (GRCm39) |
S154P |
probably damaging |
Het |
| Casz1 |
A |
G |
4: 149,019,076 (GRCm39) |
D459G |
probably damaging |
Het |
| Cdca7 |
A |
G |
2: 72,314,988 (GRCm39) |
T293A |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,226,658 (GRCm39) |
D2810V |
probably damaging |
Het |
| CN725425 |
G |
A |
15: 91,130,024 (GRCm39) |
V296I |
probably benign |
Het |
| Col17a1 |
A |
G |
19: 47,639,658 (GRCm39) |
M1077T |
probably benign |
Het |
| Ddhd1 |
A |
T |
14: 45,854,057 (GRCm39) |
H426Q |
probably damaging |
Het |
| Dpp6 |
C |
T |
5: 27,928,575 (GRCm39) |
T799M |
probably damaging |
Het |
| Efs |
C |
T |
14: 55,158,499 (GRCm39) |
G53D |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,890,371 (GRCm39) |
V221A |
probably benign |
Het |
| Gabre |
G |
A |
X: 71,318,259 (GRCm39) |
Q17* |
probably null |
Het |
| Gpld1 |
T |
C |
13: 25,168,192 (GRCm39) |
|
probably null |
Het |
| Gpr107 |
T |
A |
2: 31,058,858 (GRCm39) |
V116D |
probably benign |
Het |
| Huwe1 |
T |
C |
X: 150,686,964 (GRCm39) |
S2283P |
possibly damaging |
Het |
| Ksr1 |
A |
G |
11: 78,911,617 (GRCm39) |
S722P |
probably benign |
Het |
| Lmbrd2 |
A |
G |
15: 9,182,661 (GRCm39) |
E532G |
probably damaging |
Het |
| Lrfn1 |
T |
C |
7: 28,158,111 (GRCm39) |
|
probably benign |
Het |
| Lrrc4c |
A |
G |
2: 97,460,598 (GRCm39) |
D408G |
probably damaging |
Het |
| Mbp |
A |
G |
18: 82,572,670 (GRCm39) |
E122G |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,777,836 (GRCm39) |
D1197E |
probably benign |
Het |
| Ncor1 |
A |
T |
11: 62,220,485 (GRCm39) |
|
probably benign |
Het |
| Or2y17 |
A |
G |
11: 49,232,133 (GRCm39) |
Y258C |
probably benign |
Het |
| Pdcd1lg2 |
A |
G |
19: 29,414,732 (GRCm39) |
E53G |
probably benign |
Het |
| Phex |
G |
T |
X: 156,051,489 (GRCm39) |
A469E |
probably damaging |
Het |
| Pigo |
A |
G |
4: 43,019,352 (GRCm39) |
S957P |
probably benign |
Het |
| Ppargc1b |
T |
A |
18: 61,443,946 (GRCm39) |
R406* |
probably null |
Het |
| Ppargc1b |
C |
A |
18: 61,443,945 (GRCm39) |
R422I |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Thnsl1 |
G |
T |
2: 21,216,665 (GRCm39) |
A140S |
possibly damaging |
Het |
| Tm9sf3 |
A |
G |
19: 41,235,076 (GRCm39) |
|
probably benign |
Het |
| Tma7 |
T |
A |
9: 108,911,153 (GRCm39) |
|
probably benign |
Het |
| Tmtc2 |
T |
G |
10: 105,184,354 (GRCm39) |
S514R |
probably benign |
Het |
| Unc79 |
G |
A |
12: 102,965,006 (GRCm39) |
|
probably null |
Het |
| Wdr89 |
A |
T |
12: 75,679,897 (GRCm39) |
I119N |
probably damaging |
Het |
| Wiz |
C |
A |
17: 32,575,876 (GRCm39) |
R843S |
probably damaging |
Het |
| Zfp275 |
T |
A |
X: 72,396,889 (GRCm39) |
S12T |
probably 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 |
|
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 |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation