Incidental Mutation 'IGL02876:Atp12a'
ID |
406238 |
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 # |
IGL02876
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
56602525-56626007 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 56610746 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 297
(I297V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000007340
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007340]
|
AlphaFold |
Q9Z1W8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000007340
AA Change: I297V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000007340 Gene: ENSMUSG00000022229 AA Change: I297V
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 |
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm2 |
A |
G |
4: 144,282,343 (GRCm39) |
Y150H |
probably damaging |
Het |
Abcb5 |
A |
G |
12: 118,883,576 (GRCm39) |
V564A |
probably damaging |
Het |
Adamts15 |
A |
T |
9: 30,815,818 (GRCm39) |
N679K |
probably damaging |
Het |
Angpt1 |
T |
G |
15: 42,290,373 (GRCm39) |
D497A |
possibly damaging |
Het |
Asap2 |
A |
G |
12: 21,308,164 (GRCm39) |
K849R |
probably benign |
Het |
Aspm |
T |
C |
1: 139,401,391 (GRCm39) |
V1137A |
probably damaging |
Het |
Atp2a2 |
A |
G |
5: 122,604,071 (GRCm39) |
V454A |
probably benign |
Het |
Carmil1 |
T |
A |
13: 24,338,651 (GRCm39) |
|
probably benign |
Het |
Csmd2 |
A |
T |
4: 128,215,128 (GRCm39) |
K517* |
probably null |
Het |
Csmd3 |
A |
T |
15: 47,469,492 (GRCm39) |
|
probably benign |
Het |
Cyp2d11 |
T |
A |
15: 82,273,697 (GRCm39) |
Q427L |
possibly damaging |
Het |
Eml5 |
C |
T |
12: 98,825,100 (GRCm39) |
V706M |
probably damaging |
Het |
Entpd8 |
A |
C |
2: 24,975,072 (GRCm39) |
S428R |
probably benign |
Het |
Gm10283 |
T |
C |
8: 60,954,253 (GRCm39) |
|
probably benign |
Het |
Gpatch3 |
T |
A |
4: 133,307,995 (GRCm39) |
V363E |
probably damaging |
Het |
Hoxb5 |
T |
A |
11: 96,194,594 (GRCm39) |
M52K |
probably damaging |
Het |
Ift52 |
T |
C |
2: 162,878,627 (GRCm39) |
V307A |
probably benign |
Het |
Igkv1-115 |
T |
C |
6: 68,138,424 (GRCm39) |
|
noncoding transcript |
Het |
Kdm5a |
T |
C |
6: 120,367,605 (GRCm39) |
|
probably benign |
Het |
Lama1 |
T |
A |
17: 68,057,687 (GRCm39) |
|
probably null |
Het |
Lrp6 |
G |
A |
6: 134,433,077 (GRCm39) |
P1418L |
probably benign |
Het |
Mill2 |
T |
C |
7: 18,590,432 (GRCm39) |
F156L |
probably damaging |
Het |
Mnat1 |
A |
G |
12: 73,217,378 (GRCm39) |
R85G |
probably damaging |
Het |
Myrip |
A |
T |
9: 120,261,740 (GRCm39) |
D451V |
probably damaging |
Het |
Or1e1f |
A |
T |
11: 73,855,539 (GRCm39) |
Y35F |
possibly damaging |
Het |
Pdzph1 |
C |
A |
17: 59,281,064 (GRCm39) |
S406I |
probably benign |
Het |
Ptprb |
A |
G |
10: 116,184,116 (GRCm39) |
|
probably benign |
Het |
Rxfp4 |
T |
A |
3: 88,559,742 (GRCm39) |
R236S |
possibly damaging |
Het |
Ryr2 |
T |
C |
13: 11,722,679 (GRCm39) |
M2604V |
probably benign |
Het |
Setd1a |
G |
A |
7: 127,377,673 (GRCm39) |
|
probably benign |
Het |
Spata33 |
A |
T |
8: 123,948,719 (GRCm39) |
H88L |
probably damaging |
Het |
Spcs3 |
A |
T |
8: 54,979,486 (GRCm39) |
N98K |
probably damaging |
Het |
Srgap3 |
A |
G |
6: 112,748,414 (GRCm39) |
S413P |
probably damaging |
Het |
Stap2 |
T |
C |
17: 56,306,961 (GRCm39) |
R239G |
probably benign |
Het |
Surf6 |
A |
G |
2: 26,782,638 (GRCm39) |
Y230H |
probably damaging |
Het |
Tasp1 |
C |
T |
2: 139,676,283 (GRCm39) |
V382M |
probably benign |
Het |
Tnc |
G |
T |
4: 63,933,338 (GRCm39) |
A642E |
possibly damaging |
Het |
Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
Het |
Vmn2r110 |
T |
A |
17: 20,794,558 (GRCm39) |
T704S |
probably damaging |
Het |
Vtcn1 |
A |
T |
3: 100,791,145 (GRCm39) |
D61V |
probably damaging |
Het |
Zc3h12d |
G |
A |
10: 7,738,364 (GRCm39) |
M223I |
probably damaging |
Het |
Zfp592 |
T |
A |
7: 80,687,875 (GRCm39) |
S934T |
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 |
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 |
2016-08-02 |