Incidental Mutation 'R6791:Atp12a'
ID |
532610 |
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 |
044904-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6791 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
56602525-56626007 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to A
at 56624439 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000007340
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007340]
|
AlphaFold |
Q9Z1W8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000007340
|
SMART Domains |
Protein: ENSMUSP00000007340 Gene: ENSMUSG00000022229
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 |
|
Meta Mutation Damage Score |
0.9493 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.7%
|
Validation Efficiency |
100% (52/52) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,328,504 (GRCm39) |
C3526S |
probably damaging |
Het |
Adgrf2 |
T |
C |
17: 43,021,774 (GRCm39) |
N350S |
probably benign |
Het |
AW551984 |
T |
G |
9: 39,511,955 (GRCm39) |
S19R |
probably damaging |
Het |
Bet1l |
A |
G |
7: 140,434,418 (GRCm39) |
I77T |
possibly damaging |
Het |
Cfap206 |
T |
C |
4: 34,711,414 (GRCm39) |
I494M |
possibly damaging |
Het |
Cog3 |
A |
G |
14: 75,968,118 (GRCm39) |
I415T |
probably damaging |
Het |
Col15a1 |
C |
T |
4: 47,300,518 (GRCm39) |
P1060S |
probably damaging |
Het |
Ctrb1 |
A |
G |
8: 112,415,981 (GRCm39) |
V71A |
possibly damaging |
Het |
Ddhd2 |
T |
C |
8: 26,242,242 (GRCm39) |
Y211C |
probably benign |
Het |
Fbxl20 |
T |
C |
11: 98,000,336 (GRCm39) |
T128A |
probably benign |
Het |
Fdps |
A |
G |
3: 89,002,659 (GRCm39) |
|
probably null |
Het |
Gm4302 |
TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA |
TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA |
10: 100,177,361 (GRCm39) |
|
probably benign |
Het |
Gm8369 |
T |
A |
19: 11,489,200 (GRCm39) |
|
probably benign |
Het |
Grm6 |
T |
C |
11: 50,750,601 (GRCm39) |
V588A |
possibly damaging |
Het |
Heatr6 |
T |
C |
11: 83,649,167 (GRCm39) |
L174S |
probably benign |
Het |
Kif1a |
G |
A |
1: 92,993,859 (GRCm39) |
P364S |
probably damaging |
Het |
Klk7 |
A |
G |
7: 43,462,684 (GRCm39) |
D163G |
probably benign |
Het |
Kmt2e |
TGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
5: 23,704,474 (GRCm39) |
|
probably benign |
Het |
Lamb3 |
T |
C |
1: 193,017,169 (GRCm39) |
S787P |
possibly damaging |
Het |
Lrp5 |
C |
T |
19: 3,650,753 (GRCm39) |
C1227Y |
probably damaging |
Het |
Mgst1 |
G |
A |
6: 138,118,805 (GRCm39) |
|
probably benign |
Het |
Mllt6 |
T |
C |
11: 97,571,428 (GRCm39) |
S1022P |
probably damaging |
Het |
Mtmr2 |
T |
C |
9: 13,716,678 (GRCm39) |
I521T |
probably benign |
Het |
Naalad2 |
T |
C |
9: 18,296,426 (GRCm39) |
T75A |
possibly damaging |
Het |
Nadsyn1 |
A |
T |
7: 143,372,845 (GRCm39) |
I83N |
probably damaging |
Het |
Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
Neurl4 |
T |
A |
11: 69,799,336 (GRCm39) |
L904Q |
probably damaging |
Het |
Ngp |
A |
C |
9: 110,249,017 (GRCm39) |
I30L |
probably benign |
Het |
Or5af1 |
T |
C |
11: 58,722,903 (GRCm39) |
Y308H |
probably benign |
Het |
Or6c5c |
G |
A |
10: 129,299,023 (GRCm39) |
M159I |
probably benign |
Het |
Orm2 |
A |
T |
4: 63,282,196 (GRCm39) |
M125L |
probably benign |
Het |
Pax2 |
A |
T |
19: 44,777,260 (GRCm39) |
D151V |
possibly damaging |
Het |
Polg |
A |
G |
7: 79,109,857 (GRCm39) |
V382A |
probably benign |
Het |
Ppargc1b |
C |
A |
18: 61,440,747 (GRCm39) |
G724W |
probably damaging |
Het |
Pramel11 |
T |
A |
4: 143,622,252 (GRCm39) |
I368F |
probably benign |
Het |
Prss16 |
A |
T |
13: 22,190,237 (GRCm39) |
V307E |
probably damaging |
Het |
Prss54 |
T |
G |
8: 96,291,283 (GRCm39) |
|
probably null |
Het |
Rspo1 |
A |
G |
4: 124,900,976 (GRCm39) |
H108R |
probably benign |
Het |
Sh3bp5l |
C |
A |
11: 58,237,098 (GRCm39) |
H352N |
probably damaging |
Het |
Skor1 |
T |
C |
9: 63,047,636 (GRCm39) |
|
probably null |
Het |
Smad6 |
A |
G |
9: 63,919,509 (GRCm39) |
Y289H |
probably benign |
Het |
Spart |
G |
A |
3: 55,034,982 (GRCm39) |
G456D |
probably damaging |
Het |
Spg11 |
T |
C |
2: 121,923,924 (GRCm39) |
E799G |
probably damaging |
Het |
Tbc1d4 |
T |
G |
14: 101,845,695 (GRCm39) |
K68Q |
probably damaging |
Het |
Treml2 |
A |
G |
17: 48,616,247 (GRCm39) |
M296V |
probably benign |
Het |
Ugt2b1 |
C |
A |
5: 87,067,116 (GRCm39) |
D436Y |
probably damaging |
Het |
Usp9y |
A |
T |
Y: 1,325,042 (GRCm39) |
|
probably null |
Homo |
Vmn2r6 |
T |
C |
3: 64,445,580 (GRCm39) |
Y626C |
probably damaging |
Het |
Xpc |
G |
A |
6: 91,483,839 (GRCm39) |
A169V |
probably benign |
Het |
Zfp131 |
A |
G |
13: 120,228,129 (GRCm39) |
V506A |
probably damaging |
Het |
Zfp74 |
A |
G |
7: 29,633,860 (GRCm39) |
I616T |
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 |
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 |
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'- AGAGAGGGTCAGGTTTCCAC -3'
(R):5'- ACGCAACGATGATCTGCGAG -3'
Sequencing Primer
(F):5'- GGTTTCCACCAGGGTCTTATTTGC -3'
(R):5'- ATGATCTGCGAGATGATCCCC -3'
|
Posted On |
2018-08-29 |