Incidental Mutation 'R7173:Atp12a'
ID |
558451 |
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 |
045265-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7173 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
56602525-56626007 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 56621837 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 794
(N794I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000007340
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007340]
|
AlphaFold |
Q9Z1W8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000007340
AA Change: N794I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000007340 Gene: ENSMUSG00000022229 AA Change: N794I
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (79/79) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5031439G07Rik |
C |
T |
15: 84,833,848 (GRCm39) |
V403I |
possibly damaging |
Het |
Actn1 |
G |
A |
12: 80,224,033 (GRCm39) |
R475C |
possibly damaging |
Het |
Adam11 |
T |
C |
11: 102,662,757 (GRCm39) |
L191P |
possibly damaging |
Het |
Adam21 |
G |
T |
12: 81,606,008 (GRCm39) |
Q585K |
probably benign |
Het |
Akap3 |
T |
C |
6: 126,841,729 (GRCm39) |
V116A |
probably benign |
Het |
Alpk1 |
A |
T |
3: 127,478,024 (GRCm39) |
Y74* |
probably null |
Het |
Alx4 |
G |
T |
2: 93,473,202 (GRCm39) |
G67C |
possibly damaging |
Het |
Ankrd17 |
A |
T |
5: 90,407,976 (GRCm39) |
C1414S |
possibly damaging |
Het |
Ankrd44 |
T |
C |
1: 54,805,550 (GRCm39) |
D170G |
probably damaging |
Het |
Arpc2 |
T |
A |
1: 74,303,531 (GRCm39) |
M266K |
probably damaging |
Het |
Cabin1 |
A |
G |
10: 75,582,396 (GRCm39) |
L340P |
probably benign |
Het |
Ccer1 |
A |
T |
10: 97,529,217 (GRCm39) |
|
probably benign |
Het |
Cfap73 |
A |
T |
5: 120,772,279 (GRCm39) |
Y8N |
probably damaging |
Het |
Cfhr4 |
C |
A |
1: 139,659,415 (GRCm39) |
E705* |
probably null |
Het |
Cln3 |
T |
C |
7: 126,178,589 (GRCm39) |
T173A |
probably damaging |
Het |
Cxcl3 |
A |
T |
5: 90,934,008 (GRCm39) |
|
probably benign |
Het |
Cyp2c66 |
G |
C |
19: 39,159,401 (GRCm39) |
C284S |
probably benign |
Het |
Dnajc22 |
T |
C |
15: 98,999,187 (GRCm39) |
V124A |
probably benign |
Het |
Dync1h1 |
C |
G |
12: 110,568,173 (GRCm39) |
D45E |
probably benign |
Het |
Elmod3 |
A |
T |
6: 72,554,235 (GRCm39) |
|
probably null |
Het |
Enpp3 |
A |
C |
10: 24,649,945 (GRCm39) |
V827G |
probably damaging |
Het |
Esyt2 |
T |
C |
12: 116,327,154 (GRCm39) |
I574T |
probably benign |
Het |
Ext2 |
A |
T |
2: 93,643,957 (GRCm39) |
I108N |
probably damaging |
Het |
Fam186a |
T |
C |
15: 99,843,531 (GRCm39) |
I904M |
unknown |
Het |
Fmnl2 |
T |
C |
2: 53,004,202 (GRCm39) |
I638T |
unknown |
Het |
Fndc3c1 |
G |
C |
X: 105,478,679 (GRCm39) |
L724V |
possibly damaging |
Het |
Fras1 |
G |
T |
5: 96,925,937 (GRCm39) |
A3714S |
probably damaging |
Het |
Fsd1 |
C |
A |
17: 56,303,696 (GRCm39) |
R479S |
possibly damaging |
Het |
Gaa |
C |
T |
11: 119,169,817 (GRCm39) |
L624F |
probably damaging |
Het |
Galnt2 |
G |
A |
8: 125,032,292 (GRCm39) |
V86I |
probably benign |
Het |
Gdap1l1 |
T |
G |
2: 163,280,608 (GRCm39) |
V48G |
probably damaging |
Het |
Gm10549 |
A |
G |
18: 33,597,462 (GRCm39) |
T83A |
unknown |
Het |
Gm11437 |
T |
G |
11: 84,055,374 (GRCm39) |
T81P |
probably benign |
Het |
Gm16253 |
T |
C |
3: 96,487,979 (GRCm39) |
|
probably null |
Het |
Gprc6a |
A |
T |
10: 51,504,595 (GRCm39) |
M83K |
probably benign |
Het |
Grik5 |
T |
C |
7: 24,767,587 (GRCm39) |
D31G |
probably damaging |
Het |
Hcrtr2 |
A |
G |
9: 76,167,013 (GRCm39) |
L108P |
probably damaging |
Het |
Herc2 |
T |
A |
7: 55,853,575 (GRCm39) |
L3689Q |
probably damaging |
Het |
Igf2bp1 |
T |
C |
11: 95,859,290 (GRCm39) |
M407V |
probably benign |
Het |
Irgq |
A |
T |
7: 24,233,185 (GRCm39) |
E342V |
probably damaging |
Het |
Itih2 |
A |
T |
2: 10,109,974 (GRCm39) |
I593N |
probably damaging |
Het |
Ivd |
G |
T |
2: 118,701,870 (GRCm39) |
G101C |
probably damaging |
Het |
Jakmip1 |
G |
A |
5: 37,248,708 (GRCm39) |
G123S |
probably damaging |
Het |
Kif14 |
T |
A |
1: 136,406,908 (GRCm39) |
I580N |
probably damaging |
Het |
Kmt2e |
A |
T |
5: 23,669,855 (GRCm39) |
Y114F |
probably damaging |
Het |
Ly6g5b |
C |
A |
17: 35,333,680 (GRCm39) |
C99F |
probably damaging |
Het |
Map3k20 |
C |
T |
2: 72,271,758 (GRCm39) |
P629S |
probably benign |
Het |
Mpl |
A |
G |
4: 118,305,741 (GRCm39) |
|
probably null |
Het |
Muc4 |
T |
C |
16: 32,582,862 (GRCm39) |
F476L |
probably damaging |
Het |
Mup18 |
T |
C |
4: 61,590,199 (GRCm39) |
T110A |
probably benign |
Het |
Nlrp9a |
A |
G |
7: 26,257,603 (GRCm39) |
D407G |
probably benign |
Het |
Nmur1 |
G |
A |
1: 86,314,190 (GRCm39) |
R359C |
probably benign |
Het |
Or5ac24 |
T |
C |
16: 59,165,510 (GRCm39) |
T185A |
probably benign |
Het |
Or5p64 |
C |
T |
7: 107,854,955 (GRCm39) |
C130Y |
possibly damaging |
Het |
Panx3 |
A |
T |
9: 37,572,596 (GRCm39) |
M318K |
probably damaging |
Het |
Pcnx1 |
T |
C |
12: 81,999,777 (GRCm39) |
|
probably null |
Het |
Pcsk5 |
T |
C |
19: 17,455,241 (GRCm39) |
Y1063C |
possibly damaging |
Het |
Psme3ip1 |
A |
T |
8: 95,315,486 (GRCm39) |
F15L |
probably damaging |
Het |
Rere |
G |
A |
4: 150,553,195 (GRCm39) |
R129H |
probably damaging |
Het |
Rpgrip1 |
A |
G |
14: 52,349,633 (GRCm39) |
Y7C |
possibly damaging |
Het |
Serpina6 |
T |
C |
12: 103,613,253 (GRCm39) |
N349S |
possibly damaging |
Het |
Slc10a1 |
T |
G |
12: 81,002,750 (GRCm39) |
E296A |
probably damaging |
Het |
Slc2a9 |
A |
T |
5: 38,610,214 (GRCm39) |
|
probably null |
Het |
Sptan1 |
T |
A |
2: 29,873,221 (GRCm39) |
M138K |
probably benign |
Het |
Tbl3 |
T |
C |
17: 24,924,233 (GRCm39) |
T175A |
probably benign |
Het |
Tbrg4 |
T |
C |
11: 6,570,810 (GRCm39) |
T221A |
possibly damaging |
Het |
Tenm2 |
T |
C |
11: 35,932,378 (GRCm39) |
T1739A |
probably damaging |
Het |
Tmed5 |
T |
C |
5: 108,280,187 (GRCm39) |
D35G |
probably benign |
Het |
Tnfsf15 |
A |
T |
4: 63,647,889 (GRCm39) |
S250R |
probably damaging |
Het |
Tnpo2 |
G |
T |
8: 85,781,707 (GRCm39) |
V830F |
probably benign |
Het |
Ttbk2 |
G |
T |
2: 120,570,592 (GRCm39) |
S1187Y |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,625,029 (GRCm39) |
T15183M |
possibly damaging |
Het |
Tubgcp3 |
T |
C |
8: 12,689,259 (GRCm39) |
|
probably null |
Het |
Vmn1r38 |
T |
C |
6: 66,753,278 (GRCm39) |
I279M |
possibly damaging |
Het |
Vmn1r49 |
A |
T |
6: 90,049,250 (GRCm39) |
Y251N |
possibly damaging |
Het |
Vmn1r66 |
C |
T |
7: 10,008,482 (GRCm39) |
V184I |
probably benign |
Het |
Vmn2r26 |
T |
A |
6: 124,038,255 (GRCm39) |
M610K |
probably benign |
Het |
Xrn2 |
C |
T |
2: 146,884,013 (GRCm39) |
P591S |
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 |
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 |
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'- TTCTGATGCTGCTAAGAATGCAG -3'
(R):5'- CCAACGATACAGAAGGCTCTTG -3'
Sequencing Primer
(F):5'- GACATGGTCTTGCTCGATGACAAC -3'
(R):5'- CTCTTGGCAGCAATAGGTATGAC -3'
|
Posted On |
2019-06-26 |