Incidental Mutation 'R6667:Atp12a'
| ID |
527038 |
| 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 |
044787-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6667 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
56602525-56626007 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56621645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 760
(V760A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007340]
|
| AlphaFold |
Q9Z1W8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000007340
AA Change: V760A
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000007340
Gene: ENSMUSG00000022229
AA Change: V760A
| 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 |
0.6704 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
| Validation Efficiency |
98% (41/42) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3100002H09Rik |
G |
T |
4: 124,504,435 (GRCm39) |
A39E |
probably damaging |
Het |
| Agtr1b |
T |
A |
3: 20,369,913 (GRCm39) |
N231I |
possibly damaging |
Het |
| Alpk2 |
T |
C |
18: 65,440,811 (GRCm39) |
E661G |
probably damaging |
Het |
| Ankrd26 |
C |
T |
6: 118,484,749 (GRCm39) |
S1496N |
probably benign |
Het |
| Asah2 |
T |
C |
19: 31,972,758 (GRCm39) |
N659S |
probably benign |
Het |
| Casp2 |
T |
C |
6: 42,256,770 (GRCm39) |
C343R |
probably damaging |
Het |
| Cblb |
T |
A |
16: 51,973,007 (GRCm39) |
M446K |
possibly damaging |
Het |
| Cipc |
T |
C |
12: 87,008,864 (GRCm39) |
V241A |
probably benign |
Het |
| Ddit4l |
A |
G |
3: 137,331,882 (GRCm39) |
K83E |
probably benign |
Het |
| Eif1ad10 |
A |
T |
12: 88,216,475 (GRCm39) |
D132E |
unknown |
Het |
| Epc2 |
A |
G |
2: 49,412,681 (GRCm39) |
T220A |
probably damaging |
Het |
| Epha5 |
T |
C |
5: 84,219,050 (GRCm39) |
D741G |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,109,068 (GRCm39) |
R365S |
possibly damaging |
Het |
| Ggn |
A |
T |
7: 28,872,093 (GRCm39) |
H491L |
possibly damaging |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Ighv6-4 |
A |
G |
12: 114,370,152 (GRCm39) |
V100A |
probably benign |
Het |
| Invs |
A |
T |
4: 48,402,870 (GRCm39) |
Y501F |
possibly damaging |
Het |
| Iqcm |
G |
T |
8: 76,479,980 (GRCm39) |
G313W |
probably damaging |
Het |
| Jph2 |
A |
G |
2: 163,218,206 (GRCm39) |
S157P |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,874,004 (GRCm39) |
E1596G |
probably damaging |
Het |
| Mllt6 |
T |
A |
11: 97,567,760 (GRCm39) |
L759Q |
probably damaging |
Het |
| Nalcn |
A |
G |
14: 123,558,735 (GRCm39) |
L837P |
probably damaging |
Het |
| Neb |
G |
A |
2: 52,037,201 (GRCm39) |
T6836I |
probably damaging |
Het |
| Nol12 |
T |
A |
15: 78,824,280 (GRCm39) |
D133E |
probably benign |
Het |
| Or5w13 |
A |
G |
2: 87,523,914 (GRCm39) |
V104A |
probably benign |
Het |
| Oxtr |
C |
A |
6: 112,454,060 (GRCm39) |
|
probably benign |
Het |
| Pcmt1 |
A |
G |
10: 7,538,913 (GRCm39) |
L38P |
probably damaging |
Het |
| Pik3r2 |
T |
C |
8: 71,221,817 (GRCm39) |
Y617C |
probably damaging |
Het |
| Potefam3b |
T |
C |
8: 21,161,955 (GRCm39) |
S267P |
probably benign |
Het |
| Prl7a2 |
T |
C |
13: 27,845,024 (GRCm39) |
N121D |
probably benign |
Het |
| Pvr |
G |
T |
7: 19,639,727 (GRCm39) |
Q380K |
probably benign |
Het |
| Rtn2 |
A |
G |
7: 19,021,184 (GRCm39) |
E188G |
probably benign |
Het |
| Setd4 |
C |
A |
16: 93,386,918 (GRCm39) |
R260L |
probably benign |
Het |
| Six5 |
A |
G |
7: 18,830,494 (GRCm39) |
N374D |
probably benign |
Het |
| Slc9b1 |
T |
C |
3: 135,077,726 (GRCm39) |
I140T |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,409,520 (GRCm39) |
F797L |
probably damaging |
Het |
| Tbata |
T |
C |
10: 61,021,142 (GRCm39) |
L262P |
probably damaging |
Het |
| Tti1 |
A |
T |
2: 157,850,347 (GRCm39) |
C297* |
probably null |
Het |
| Ush1c |
C |
A |
7: 45,875,048 (GRCm39) |
G139C |
probably damaging |
Het |
| Vmn1r1 |
C |
T |
1: 181,985,342 (GRCm39) |
V108I |
probably benign |
Het |
| Vmn2r116 |
C |
T |
17: 23,620,066 (GRCm39) |
T600I |
probably damaging |
Het |
| Zfp764l1 |
A |
G |
7: 126,992,595 (GRCm39) |
M5T |
probably benign |
Het |
| Zfp873 |
A |
G |
10: 81,896,423 (GRCm39) |
T422A |
probably benign |
Het |
| Zfp943 |
G |
A |
17: 22,211,889 (GRCm39) |
C325Y |
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 |
|
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 |
|
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'- AGGAATAGGGGTATGCTTCCTG -3'
(R):5'- GCTCAGCGATGTTCTTTGTCAG -3'
Sequencing Primer
(F):5'- ATGCTTCCTGGTGGACCTG -3'
(R):5'- CAGGGTGTAAGCAATGGTCTTC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation