Incidental Mutation 'R6271:Atp12a'
ID |
507360 |
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 |
044379-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6271 (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 G
at 56615879 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 547
(D547G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000007340
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007340]
|
AlphaFold |
Q9Z1W8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000007340
AA Change: D547G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000007340 Gene: ENSMUSG00000022229 AA Change: D547G
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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahdc1 |
G |
T |
4: 132,792,035 (GRCm39) |
C1092F |
possibly damaging |
Het |
Aplf |
T |
C |
6: 87,623,230 (GRCm39) |
E304G |
possibly damaging |
Het |
B3gat2 |
T |
C |
1: 23,854,342 (GRCm39) |
L212P |
probably damaging |
Het |
Babam2 |
G |
T |
5: 32,158,706 (GRCm39) |
A219S |
probably damaging |
Het |
Ccdc18 |
A |
C |
5: 108,322,753 (GRCm39) |
S618R |
possibly damaging |
Het |
Ces2c |
G |
A |
8: 105,578,748 (GRCm39) |
G342D |
probably damaging |
Het |
Cfap57 |
A |
C |
4: 118,452,956 (GRCm39) |
D582E |
probably benign |
Het |
Cisd2 |
T |
C |
3: 135,114,627 (GRCm39) |
N115D |
possibly damaging |
Het |
Cyp17a1 |
A |
G |
19: 46,661,159 (GRCm39) |
F42L |
probably benign |
Het |
Fam234a |
T |
C |
17: 26,437,211 (GRCm39) |
D156G |
probably benign |
Het |
Fer1l6 |
T |
A |
15: 58,513,767 (GRCm39) |
I1554K |
probably benign |
Het |
Fv1 |
A |
G |
4: 147,954,474 (GRCm39) |
T347A |
possibly damaging |
Het |
Gm5134 |
T |
A |
10: 75,831,643 (GRCm39) |
C361S |
probably benign |
Het |
Grin3a |
T |
C |
4: 49,792,516 (GRCm39) |
I406V |
probably benign |
Het |
Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
Ifna13 |
A |
C |
4: 88,562,082 (GRCm39) |
L181V |
possibly damaging |
Het |
Irx4 |
A |
G |
13: 73,414,713 (GRCm39) |
|
probably null |
Het |
Kcna3 |
T |
A |
3: 106,944,922 (GRCm39) |
M395K |
probably damaging |
Het |
Kcnma1 |
A |
T |
14: 23,559,957 (GRCm39) |
V347D |
probably damaging |
Het |
Kng2 |
A |
T |
16: 22,822,698 (GRCm39) |
V218E |
probably benign |
Het |
Krt36 |
G |
A |
11: 99,995,298 (GRCm39) |
Q167* |
probably null |
Het |
Lama2 |
T |
C |
10: 26,899,325 (GRCm39) |
D2457G |
possibly damaging |
Het |
Ldah |
G |
A |
12: 8,318,599 (GRCm39) |
|
probably null |
Het |
Lhfpl3 |
G |
T |
5: 22,951,242 (GRCm39) |
A18S |
probably benign |
Het |
Lrrk1 |
A |
G |
7: 65,956,851 (GRCm39) |
|
probably null |
Het |
Ltv1 |
T |
C |
10: 13,055,445 (GRCm39) |
Y352C |
probably damaging |
Het |
Lyst |
G |
T |
13: 13,833,339 (GRCm39) |
M1720I |
probably benign |
Het |
Mkx |
A |
T |
18: 6,937,059 (GRCm39) |
|
probably null |
Het |
Myo18a |
A |
G |
11: 77,711,635 (GRCm39) |
H626R |
probably damaging |
Het |
Nop9 |
A |
C |
14: 55,991,198 (GRCm39) |
Q618H |
probably damaging |
Het |
Or12k5 |
T |
C |
2: 36,895,554 (GRCm39) |
Q24R |
probably damaging |
Het |
Or4c12b |
T |
C |
2: 89,646,906 (GRCm39) |
S73P |
probably damaging |
Het |
Or7g32 |
A |
G |
9: 19,389,337 (GRCm39) |
S67P |
probably damaging |
Het |
Or8c9 |
T |
C |
9: 38,241,578 (GRCm39) |
S232P |
probably benign |
Het |
Otog |
C |
A |
7: 45,901,464 (GRCm39) |
Q388K |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Oxct2b |
T |
G |
4: 123,011,508 (GRCm39) |
V476G |
probably damaging |
Het |
Parp10 |
T |
C |
15: 76,126,202 (GRCm39) |
T329A |
probably benign |
Het |
Pcdhga5 |
T |
C |
18: 37,829,735 (GRCm39) |
S728P |
probably benign |
Het |
Piezo1 |
G |
T |
8: 123,221,671 (GRCm39) |
H574Q |
probably damaging |
Het |
Pnpla1 |
G |
A |
17: 29,100,342 (GRCm39) |
G403E |
probably benign |
Het |
Preb |
C |
A |
5: 31,115,395 (GRCm39) |
V255F |
probably damaging |
Het |
Prmt9 |
A |
G |
8: 78,304,092 (GRCm39) |
N725S |
probably damaging |
Het |
Ric1 |
A |
T |
19: 29,544,765 (GRCm39) |
|
probably null |
Het |
Semp2l1 |
T |
A |
1: 32,584,572 (GRCm39) |
D446V |
probably damaging |
Het |
Serinc3 |
G |
C |
2: 163,472,896 (GRCm39) |
L245V |
probably benign |
Het |
Sgce |
T |
C |
6: 4,730,015 (GRCm39) |
K70E |
possibly damaging |
Het |
Simc1 |
T |
G |
13: 54,687,537 (GRCm39) |
V102G |
probably damaging |
Het |
Slc66a3 |
T |
C |
12: 17,047,704 (GRCm39) |
D76G |
probably damaging |
Het |
Smyd2 |
A |
G |
1: 189,616,049 (GRCm39) |
Y362H |
probably damaging |
Het |
Sptbn1 |
G |
T |
11: 30,050,660 (GRCm39) |
H2310N |
probably benign |
Het |
Syne1 |
T |
C |
10: 5,184,652 (GRCm39) |
Y4077C |
probably damaging |
Het |
Syne2 |
C |
A |
12: 75,937,155 (GRCm39) |
A251E |
probably damaging |
Het |
Taok1 |
A |
T |
11: 77,464,609 (GRCm39) |
L159Q |
probably damaging |
Het |
Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
Timeless |
T |
C |
10: 128,086,593 (GRCm39) |
L1043P |
probably damaging |
Het |
Tmprss3 |
T |
C |
17: 31,405,536 (GRCm39) |
E352G |
probably damaging |
Het |
Trav6-4 |
A |
T |
14: 53,692,039 (GRCm39) |
T46S |
probably benign |
Het |
Ubiad1 |
A |
T |
4: 148,521,083 (GRCm39) |
Y180* |
probably null |
Het |
Usp47 |
A |
G |
7: 111,686,263 (GRCm39) |
E627G |
probably damaging |
Het |
Vmn2r124 |
A |
G |
17: 18,283,145 (GRCm39) |
T280A |
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 |
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'- GCTAACCTGCCCAATCCATG -3'
(R):5'- TGGAATCAACCCCATTCTCTTCAG -3'
Sequencing Primer
(F):5'- AATCCATGCCCTCCCAGCTC -3'
(R):5'- AGATTGAGCCCAGGACCTC -3'
|
Posted On |
2018-03-15 |