Incidental Mutation 'R0656:Atp12a'
| ID |
226153 |
| 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 |
038841-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0656 (G1)
|
| Quality Score |
53 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
56602525-56626007 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 56611938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 371
(N371Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007340]
|
| AlphaFold |
Q9Z1W8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007340
AA Change: N371Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000007340
Gene: ENSMUSG00000022229
AA Change: N371Y
| 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 |
0.9219 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.2%
|
| Validation Efficiency |
98% (92/94) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533K18Rik |
T |
A |
10: 70,704,630 (GRCm39) |
|
noncoding transcript |
Het |
| Alox5 |
A |
G |
6: 116,400,291 (GRCm39) |
|
probably benign |
Het |
| Anxa11 |
T |
A |
14: 25,874,421 (GRCm39) |
D203E |
probably damaging |
Het |
| Bloc1s6 |
A |
G |
2: 122,584,543 (GRCm39) |
I39M |
probably benign |
Het |
| Celsr3 |
A |
C |
9: 108,711,854 (GRCm39) |
I1688L |
possibly damaging |
Het |
| Cgn |
T |
C |
3: 94,682,204 (GRCm39) |
|
probably benign |
Het |
| Chd4 |
A |
T |
6: 125,079,930 (GRCm39) |
I453F |
probably damaging |
Het |
| Dbnl |
A |
G |
11: 5,747,321 (GRCm39) |
T247A |
probably benign |
Het |
| Dpysl3 |
T |
C |
18: 43,571,136 (GRCm39) |
E46G |
possibly damaging |
Het |
| Dsg1a |
T |
C |
18: 20,468,949 (GRCm39) |
|
probably benign |
Het |
| Fbp1 |
C |
T |
13: 63,019,099 (GRCm39) |
E150K |
probably benign |
Het |
| Flnb |
T |
A |
14: 7,927,352 (GRCm38) |
L1854Q |
probably damaging |
Het |
| Gcn1 |
C |
T |
5: 115,727,362 (GRCm39) |
T714M |
probably benign |
Het |
| Gm12216 |
A |
T |
11: 53,704,162 (GRCm39) |
|
probably benign |
Het |
| Gpr82 |
T |
C |
X: 13,531,829 (GRCm39) |
S126P |
probably benign |
Het |
| Hmbs |
T |
A |
9: 44,248,657 (GRCm39) |
H256L |
probably benign |
Het |
| Ibsp |
A |
T |
5: 104,457,886 (GRCm39) |
|
probably null |
Het |
| Ints13 |
A |
G |
6: 146,453,959 (GRCm39) |
V240A |
probably benign |
Het |
| Iqca1l |
C |
T |
5: 24,754,760 (GRCm39) |
V337M |
possibly damaging |
Het |
| Kalrn |
T |
C |
16: 33,852,837 (GRCm39) |
D343G |
probably damaging |
Het |
| Kin |
T |
C |
2: 10,090,531 (GRCm39) |
|
probably benign |
Het |
| Klhdc1 |
T |
C |
12: 69,304,804 (GRCm39) |
V192A |
probably benign |
Het |
| Lpar3 |
T |
A |
3: 145,946,426 (GRCm39) |
C35S |
possibly damaging |
Het |
| Lrrtm4 |
A |
G |
6: 79,998,953 (GRCm39) |
I122V |
possibly damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Mgat4c |
T |
C |
10: 102,224,452 (GRCm39) |
M222T |
probably damaging |
Het |
| Muc4 |
C |
A |
16: 32,570,488 (GRCm39) |
S516Y |
possibly damaging |
Het |
| Myo1e |
A |
T |
9: 70,274,956 (GRCm39) |
Q703L |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,115,570 (GRCm39) |
|
probably benign |
Het |
| Necab3 |
T |
G |
2: 154,388,223 (GRCm39) |
E239A |
probably null |
Het |
| Npr1 |
G |
T |
3: 90,368,676 (GRCm39) |
N461K |
probably benign |
Het |
| Or4k44 |
T |
C |
2: 111,367,972 (GRCm39) |
I221V |
probably damaging |
Het |
| Pcdhb2 |
A |
G |
18: 37,428,543 (GRCm39) |
Y172C |
probably damaging |
Het |
| Pcdhb7 |
A |
G |
18: 37,474,954 (GRCm39) |
D30G |
probably benign |
Het |
| Phf12 |
A |
C |
11: 77,920,158 (GRCm39) |
Q898P |
probably benign |
Het |
| Plekhn1 |
T |
C |
4: 156,309,821 (GRCm39) |
E132G |
possibly damaging |
Het |
| Ptpn3 |
A |
G |
4: 57,270,075 (GRCm39) |
V29A |
probably benign |
Het |
| Rundc3b |
T |
A |
5: 8,619,529 (GRCm39) |
I143F |
probably damaging |
Het |
| Ryr3 |
T |
G |
2: 112,478,651 (GRCm39) |
|
probably benign |
Het |
| Sash1 |
A |
G |
10: 8,626,901 (GRCm39) |
|
probably null |
Het |
| Slc4a2 |
A |
G |
5: 24,636,257 (GRCm39) |
D201G |
probably benign |
Het |
| Tecpr1 |
T |
A |
5: 144,150,871 (GRCm39) |
|
probably null |
Het |
| Timm21 |
T |
C |
18: 84,967,326 (GRCm39) |
H150R |
probably damaging |
Het |
| Tmem79 |
T |
C |
3: 88,240,241 (GRCm39) |
T236A |
probably damaging |
Het |
| Usp34 |
G |
T |
11: 23,422,967 (GRCm39) |
V3095F |
probably damaging |
Het |
| Vmn1r8 |
A |
T |
6: 57,013,573 (GRCm39) |
Q208L |
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 |
|
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'- CATTGCATGAGTTGTCTTTGCTGCC -3'
(R):5'- GGTTTGGATGCTCCACAAAACTCAC -3'
Sequencing Primer
(F):5'- CTGCCTGTAGACTTCCAGAG -3'
(R):5'- TCCACAAAACTCACTTGTCTGG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation