Incidental Mutation 'R0045:Atp12a'
ID |
32781 |
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 |
038339-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0045 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
56602525-56626007 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 56610330 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 234
(E234K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000007340
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007340]
|
AlphaFold |
Q9Z1W8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000007340
AA Change: E234K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000007340 Gene: ENSMUSG00000022229 AA Change: E234K
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
|
Meta Mutation Damage Score |
0.3949 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.1%
|
Validation Efficiency |
100% (75/75) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb9 |
T |
C |
5: 124,220,148 (GRCm39) |
N299S |
probably damaging |
Het |
Abi3 |
A |
G |
11: 95,723,541 (GRCm39) |
*368R |
probably null |
Het |
Agbl1 |
T |
C |
7: 76,348,588 (GRCm39) |
|
probably null |
Het |
Ap3b2 |
T |
C |
7: 81,115,941 (GRCm39) |
D650G |
possibly damaging |
Het |
Arhgap30 |
A |
G |
1: 171,235,998 (GRCm39) |
S791G |
probably benign |
Het |
Arvcf |
T |
A |
16: 18,222,208 (GRCm39) |
L722Q |
probably benign |
Het |
Ascc3 |
C |
T |
10: 50,594,498 (GRCm39) |
R1198* |
probably null |
Het |
Atf2 |
G |
T |
2: 73,660,200 (GRCm39) |
T189N |
probably benign |
Het |
Atf7ip |
A |
G |
6: 136,536,814 (GRCm39) |
K16E |
probably damaging |
Het |
Atg9b |
G |
T |
5: 24,592,396 (GRCm39) |
Q621K |
probably damaging |
Het |
C8a |
T |
C |
4: 104,684,012 (GRCm39) |
K368E |
probably benign |
Het |
Ccdc168 |
T |
C |
1: 44,096,365 (GRCm39) |
K1578E |
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,366,757 (GRCm39) |
Y241C |
probably damaging |
Het |
Cdon |
G |
A |
9: 35,398,103 (GRCm39) |
S940N |
probably benign |
Het |
Cds2 |
G |
T |
2: 132,147,075 (GRCm39) |
G402V |
possibly damaging |
Het |
Cog6 |
T |
C |
3: 52,900,171 (GRCm39) |
|
probably null |
Het |
Commd10 |
T |
C |
18: 47,100,903 (GRCm39) |
S114P |
possibly damaging |
Het |
Dram2 |
T |
C |
3: 106,478,133 (GRCm39) |
V155A |
possibly damaging |
Het |
Egr2 |
T |
A |
10: 67,376,310 (GRCm39) |
V252E |
probably benign |
Het |
Exoc3l |
C |
T |
8: 106,020,317 (GRCm39) |
V203M |
probably damaging |
Het |
Fsip1 |
C |
A |
2: 118,078,773 (GRCm39) |
|
probably null |
Het |
Gm10840 |
C |
A |
11: 106,051,926 (GRCm39) |
|
probably benign |
Het |
Gpr37l1 |
A |
G |
1: 135,088,883 (GRCm39) |
L394P |
probably damaging |
Het |
Gsap |
T |
C |
5: 21,431,830 (GRCm39) |
M243T |
possibly damaging |
Het |
Hsd3b5 |
T |
A |
3: 98,526,460 (GRCm39) |
I329F |
probably benign |
Het |
Htra1 |
T |
A |
7: 130,563,262 (GRCm39) |
S164R |
probably damaging |
Het |
Il17b |
G |
A |
18: 61,823,315 (GRCm39) |
V50M |
probably damaging |
Het |
Itga4 |
A |
T |
2: 79,131,375 (GRCm39) |
Y581F |
probably damaging |
Het |
Jmjd8 |
A |
G |
17: 26,048,255 (GRCm39) |
E92G |
probably damaging |
Het |
Kcnq4 |
T |
A |
4: 120,555,152 (GRCm39) |
D677V |
probably damaging |
Het |
Klhl42 |
A |
G |
6: 146,993,666 (GRCm39) |
T213A |
probably benign |
Het |
Lcn5 |
T |
C |
2: 25,550,710 (GRCm39) |
S133P |
probably damaging |
Het |
Liph |
T |
C |
16: 21,786,803 (GRCm39) |
Y271C |
probably damaging |
Het |
Lpcat3 |
T |
C |
6: 124,678,437 (GRCm39) |
I228T |
probably benign |
Het |
Lrrd1 |
A |
G |
5: 3,916,418 (GRCm39) |
K812E |
possibly damaging |
Het |
Ltbp2 |
T |
C |
12: 84,860,062 (GRCm39) |
T631A |
probably damaging |
Het |
Ltbp2 |
G |
A |
12: 84,856,361 (GRCm39) |
T701I |
probably damaging |
Het |
Mavs |
G |
A |
2: 131,080,751 (GRCm39) |
R13Q |
probably damaging |
Het |
Mtor |
C |
G |
4: 148,549,406 (GRCm39) |
H597D |
probably benign |
Het |
Muc5b |
T |
A |
7: 141,410,555 (GRCm39) |
H1309Q |
unknown |
Het |
Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
Nnat |
A |
T |
2: 157,402,408 (GRCm39) |
|
probably benign |
Het |
Or14c40 |
T |
C |
7: 86,313,548 (GRCm39) |
L226S |
possibly damaging |
Het |
Or2ag19 |
T |
A |
7: 106,444,596 (GRCm39) |
Y259* |
probably null |
Het |
Or5h17 |
G |
A |
16: 58,820,854 (GRCm39) |
D269N |
probably benign |
Het |
Or7e175 |
A |
T |
9: 20,048,487 (GRCm39) |
Q25L |
probably benign |
Het |
Pclo |
C |
T |
5: 14,589,485 (GRCm39) |
A595V |
unknown |
Het |
Pcsk6 |
T |
A |
7: 65,612,676 (GRCm39) |
C315S |
probably damaging |
Het |
Pkd2 |
T |
A |
5: 104,603,671 (GRCm39) |
|
probably benign |
Het |
Ppp2r3c |
T |
A |
12: 55,340,606 (GRCm39) |
I155F |
probably damaging |
Het |
Rapgef4 |
A |
G |
2: 72,029,122 (GRCm39) |
H398R |
possibly damaging |
Het |
Ripor2 |
A |
G |
13: 24,878,209 (GRCm39) |
D328G |
probably damaging |
Het |
Rpgrip1 |
A |
T |
14: 52,378,601 (GRCm39) |
T509S |
possibly damaging |
Het |
Sh3pxd2a |
A |
G |
19: 47,255,622 (GRCm39) |
I1032T |
probably damaging |
Het |
Slc25a13 |
A |
T |
6: 6,109,277 (GRCm39) |
S362T |
probably benign |
Het |
Stk35 |
A |
T |
2: 129,642,488 (GRCm39) |
R10* |
probably null |
Het |
Tal1 |
A |
G |
4: 114,925,762 (GRCm39) |
D277G |
probably damaging |
Het |
Tecta |
G |
A |
9: 42,286,487 (GRCm39) |
T723I |
probably damaging |
Het |
Trp53bp1 |
A |
C |
2: 121,034,978 (GRCm39) |
V103G |
probably benign |
Het |
Trpv4 |
A |
G |
5: 114,774,518 (GRCm39) |
S189P |
probably benign |
Het |
Ttll5 |
T |
G |
12: 85,926,133 (GRCm39) |
|
probably benign |
Het |
Usp8 |
A |
G |
2: 126,584,143 (GRCm39) |
T451A |
probably benign |
Het |
Vac14 |
G |
A |
8: 111,363,584 (GRCm39) |
D340N |
probably benign |
Het |
Vars1 |
C |
A |
17: 35,217,042 (GRCm39) |
A471S |
probably benign |
Het |
Vars1 |
A |
T |
17: 35,229,595 (GRCm39) |
H404L |
probably damaging |
Het |
Vmn2r70 |
T |
C |
7: 85,215,252 (GRCm39) |
N94S |
probably damaging |
Het |
Vpreb1b |
T |
C |
16: 17,798,631 (GRCm39) |
L39P |
probably damaging |
Het |
Vps13a |
A |
T |
19: 16,618,174 (GRCm39) |
L693* |
probably null |
Het |
Wapl |
A |
G |
14: 34,455,751 (GRCm39) |
I176V |
probably benign |
Het |
Wdr31 |
G |
T |
4: 62,382,270 (GRCm39) |
L4I |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAAGGACATCTTCCTCCAGGAGAC -3'
(R):5'- TGACAATGCCAGTTGCCGTACC -3'
Sequencing Primer
(F):5'- TTCCTCCAGGAGACTGCTG -3'
(R):5'- TTACCTTCCAGGCACGTTGT -3'
|
Posted On |
2013-05-09 |