Incidental Mutation 'R5481:Atp12a'
| ID |
434350 |
| 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 |
043042-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5481 (G1)
|
| Quality Score |
194 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
56602525-56626007 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 56610846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 330
(D330V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007340]
|
| AlphaFold |
Q9Z1W8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000007340
AA Change: D330V
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000007340
Gene: ENSMUSG00000022229
AA Change: D330V
| 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: 97.6%
- 10x: 95.1%
- 20x: 90.0%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522H14Rik |
A |
G |
4: 109,362,759 (GRCm39) |
S187P |
probably damaging |
Het |
| Aass |
C |
A |
6: 23,113,475 (GRCm39) |
V282L |
probably benign |
Het |
| Adh6a |
G |
T |
3: 138,031,719 (GRCm39) |
V204F |
probably damaging |
Het |
| Adrm1b |
A |
G |
3: 92,336,658 (GRCm39) |
S15P |
possibly damaging |
Het |
| Aspm |
A |
G |
1: 139,384,799 (GRCm39) |
K148E |
possibly damaging |
Het |
| Barhl1 |
A |
G |
2: 28,805,352 (GRCm39) |
Y114H |
probably damaging |
Het |
| BC106179 |
T |
A |
16: 23,042,918 (GRCm39) |
|
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,570,900 (GRCm39) |
L792P |
probably benign |
Het |
| Calcoco2 |
A |
G |
11: 95,998,369 (GRCm39) |
V18A |
probably damaging |
Het |
| Chpf2 |
A |
T |
5: 24,794,340 (GRCm39) |
H170L |
probably damaging |
Het |
| Chrna1 |
T |
A |
2: 73,397,270 (GRCm39) |
I340F |
possibly damaging |
Het |
| Ckap5 |
A |
T |
2: 91,402,792 (GRCm39) |
I690F |
possibly damaging |
Het |
| Col10a1 |
A |
G |
10: 34,271,660 (GRCm39) |
H544R |
probably benign |
Het |
| Cyp2b19 |
A |
C |
7: 26,466,246 (GRCm39) |
T350P |
probably damaging |
Het |
| Dgkq |
A |
G |
5: 108,796,676 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
A |
G |
14: 31,030,828 (GRCm39) |
V443A |
possibly damaging |
Het |
| Erbb3 |
T |
C |
10: 128,408,349 (GRCm39) |
D855G |
probably damaging |
Het |
| Fam3c |
T |
C |
6: 22,321,357 (GRCm39) |
D138G |
probably benign |
Het |
| Fen1 |
A |
G |
19: 10,178,022 (GRCm39) |
C141R |
probably damaging |
Het |
| Flnc |
G |
A |
6: 29,441,216 (GRCm39) |
G390D |
probably damaging |
Het |
| Fnip1 |
C |
A |
11: 54,393,470 (GRCm39) |
D635E |
probably benign |
Het |
| Fry |
A |
T |
5: 150,183,784 (GRCm39) |
L17F |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,810,230 (GRCm39) |
I2183T |
probably benign |
Het |
| Gfpt1 |
T |
A |
6: 87,027,951 (GRCm39) |
I19N |
probably damaging |
Het |
| Hus1b |
T |
C |
13: 31,130,942 (GRCm39) |
D239G |
probably benign |
Het |
| Kif1a |
T |
C |
1: 92,987,966 (GRCm39) |
K546R |
probably benign |
Het |
| Kmt2d |
A |
G |
15: 98,759,886 (GRCm39) |
V1124A |
unknown |
Het |
| Krtap16-1 |
A |
G |
11: 99,876,153 (GRCm39) |
I417T |
probably damaging |
Het |
| Manba |
A |
T |
3: 135,230,317 (GRCm39) |
N297Y |
possibly damaging |
Het |
| Mblac1 |
A |
G |
5: 138,193,078 (GRCm39) |
D140G |
probably damaging |
Het |
| Mlh1 |
T |
C |
9: 111,058,905 (GRCm39) |
|
probably null |
Het |
| Morc1 |
T |
A |
16: 48,381,848 (GRCm39) |
|
probably null |
Het |
| Morc3 |
C |
A |
16: 93,659,543 (GRCm39) |
P449Q |
probably damaging |
Het |
| Mtr |
T |
C |
13: 12,203,041 (GRCm39) |
|
probably null |
Het |
| Mylk |
T |
A |
16: 34,741,974 (GRCm39) |
C829S |
probably benign |
Het |
| Myo1d |
A |
G |
11: 80,553,921 (GRCm39) |
I520T |
possibly damaging |
Het |
| Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
| Nos1 |
A |
T |
5: 118,005,819 (GRCm39) |
I180F |
probably benign |
Het |
| Ntsr1 |
C |
T |
2: 180,183,313 (GRCm39) |
T341M |
possibly damaging |
Het |
| Or8b51 |
A |
T |
9: 38,568,916 (GRCm39) |
F257L |
probably benign |
Het |
| P2rx7 |
A |
G |
5: 122,818,883 (GRCm39) |
D435G |
possibly damaging |
Het |
| Peli2 |
C |
A |
14: 48,490,090 (GRCm39) |
N136K |
probably damaging |
Het |
| Pigt |
C |
A |
2: 164,348,342 (GRCm39) |
P429H |
probably damaging |
Het |
| Pik3r2 |
T |
C |
8: 71,222,408 (GRCm39) |
I515V |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,422,042 (GRCm39) |
Y3104C |
probably damaging |
Het |
| Ppp1r16a |
A |
C |
15: 76,575,221 (GRCm39) |
E43A |
probably damaging |
Het |
| Ptpn18 |
T |
C |
1: 34,510,744 (GRCm39) |
L260P |
possibly damaging |
Het |
| Scaf11 |
A |
T |
15: 96,318,498 (GRCm39) |
S355R |
probably damaging |
Het |
| Sema4a |
A |
T |
3: 88,360,347 (GRCm39) |
Y77* |
probably null |
Het |
| Serpinb9b |
T |
C |
13: 33,222,076 (GRCm39) |
V230A |
possibly damaging |
Het |
| Sfswap |
T |
A |
5: 129,591,882 (GRCm39) |
S300T |
probably damaging |
Het |
| Slc22a30 |
T |
C |
19: 8,314,201 (GRCm39) |
N495S |
probably benign |
Het |
| Srcap |
G |
A |
7: 127,131,369 (GRCm39) |
G836D |
probably damaging |
Het |
| Stard4 |
A |
C |
18: 33,338,298 (GRCm39) |
C137W |
probably benign |
Het |
| Stat6 |
A |
G |
10: 127,483,695 (GRCm39) |
|
probably null |
Het |
| Steap3 |
T |
C |
1: 120,169,454 (GRCm39) |
D243G |
probably benign |
Het |
| Taf1c |
A |
G |
8: 120,325,979 (GRCm39) |
S628P |
probably damaging |
Het |
| Unkl |
C |
T |
17: 25,420,146 (GRCm39) |
Q13* |
probably null |
Het |
| Usp38 |
A |
G |
8: 81,719,952 (GRCm39) |
S426P |
possibly damaging |
Het |
| Vmn2r8 |
T |
C |
5: 108,949,636 (GRCm39) |
T404A |
probably benign |
Het |
| Washc1 |
T |
C |
17: 66,425,860 (GRCm39) |
V425A |
probably benign |
Het |
| Zfyve9 |
A |
G |
4: 108,501,546 (GRCm39) |
I590T |
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 |
|
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 |
|
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'- AAATGTCTTCTTCCCTGCAGGTAC -3'
(R):5'- AAACAGGCCCATAGTGGTCTC -3'
Sequencing Primer
(F):5'- TGGCATTGTCATCAACACGG -3'
(R):5'- AGGCCCATAGTGGTCTCTGGAG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation