Incidental Mutation 'R8376:Atp12a'
| ID |
646702 |
| 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 |
067744-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8376 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not 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 T
at 56612083 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
C |
8: 25,409,936 (GRCm39) |
I173S |
possibly damaging |
Het |
| Ahctf1 |
T |
C |
1: 179,610,520 (GRCm39) |
D599G |
probably damaging |
Het |
| Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
| Ankrd40 |
G |
T |
11: 94,225,662 (GRCm39) |
G231V |
probably damaging |
Het |
| Apba2 |
T |
A |
7: 64,345,341 (GRCm39) |
V177D |
probably benign |
Het |
| Birc6 |
C |
T |
17: 74,896,635 (GRCm39) |
T1027M |
probably benign |
Het |
| Bmpr2 |
G |
A |
1: 59,906,515 (GRCm39) |
R536H |
probably damaging |
Het |
| Brms1l |
C |
A |
12: 55,888,414 (GRCm39) |
N67K |
probably benign |
Het |
| Cachd1 |
G |
A |
4: 100,832,073 (GRCm39) |
R745H |
probably damaging |
Het |
| Cacnb4 |
G |
A |
2: 52,354,665 (GRCm39) |
Q238* |
probably null |
Het |
| Cdc42 |
G |
A |
4: 137,056,205 (GRCm39) |
T102I |
probably benign |
Het |
| Cfhr1 |
A |
C |
1: 139,475,549 (GRCm39) |
C307W |
unknown |
Het |
| Ddb1 |
G |
A |
19: 10,596,669 (GRCm39) |
V463M |
probably damaging |
Het |
| Dhx30 |
G |
A |
9: 109,917,707 (GRCm39) |
R365C |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 31,023,303 (GRCm39) |
F1005L |
probably damaging |
Het |
| Elp4 |
A |
G |
2: 105,672,653 (GRCm39) |
V144A |
probably benign |
Het |
| Enpp2 |
T |
A |
15: 54,773,491 (GRCm39) |
N77Y |
probably damaging |
Het |
| Fsip1 |
C |
T |
2: 118,063,519 (GRCm39) |
V317I |
possibly damaging |
Het |
| Gc |
G |
A |
5: 89,586,118 (GRCm39) |
Q341* |
probably null |
Het |
| Gpt2 |
A |
T |
8: 86,219,694 (GRCm39) |
I47F |
probably benign |
Het |
| Ino80 |
A |
T |
2: 119,272,968 (GRCm39) |
S503T |
probably benign |
Het |
| Kcnn4 |
C |
A |
7: 24,077,051 (GRCm39) |
T200K |
possibly damaging |
Het |
| Krtap4-7 |
A |
G |
11: 99,534,753 (GRCm39) |
S37P |
unknown |
Het |
| Lrrc4b |
T |
C |
7: 44,112,018 (GRCm39) |
V630A |
probably benign |
Het |
| Man2a2 |
C |
T |
7: 80,010,671 (GRCm39) |
W773* |
probably null |
Het |
| Mgrn1 |
T |
A |
16: 4,733,630 (GRCm39) |
L192Q |
probably damaging |
Het |
| Mtx1 |
A |
G |
3: 89,121,478 (GRCm39) |
V52A |
probably benign |
Het |
| Myc |
A |
T |
15: 61,859,395 (GRCm39) |
N24Y |
possibly damaging |
Het |
| Nbea |
G |
A |
3: 55,551,076 (GRCm39) |
S2696L |
possibly damaging |
Het |
| Nox4 |
A |
G |
7: 87,023,592 (GRCm39) |
N493D |
probably damaging |
Het |
| Or52w1 |
C |
A |
7: 105,017,847 (GRCm39) |
P105T |
probably benign |
Het |
| Osbpl10 |
G |
A |
9: 115,052,661 (GRCm39) |
G403D |
probably damaging |
Het |
| Pdcd6ip |
A |
T |
9: 113,518,684 (GRCm39) |
L192Q |
probably damaging |
Het |
| Pde3a |
A |
G |
6: 141,426,947 (GRCm39) |
I703V |
possibly damaging |
Het |
| Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
| Pkd1l3 |
CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA |
CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA |
8: 110,350,420 (GRCm39) |
|
probably benign |
Het |
| Plcb3 |
A |
G |
19: 6,944,071 (GRCm39) |
S36P |
probably damaging |
Het |
| Plk5 |
T |
C |
10: 80,196,179 (GRCm39) |
F279L |
probably damaging |
Het |
| Prl7a1 |
T |
G |
13: 27,821,638 (GRCm39) |
E99D |
probably benign |
Het |
| Rnf4 |
C |
T |
5: 34,508,701 (GRCm39) |
R188W |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGAGGCGGCGG |
7: 97,229,124 (GRCm39) |
|
probably benign |
Het |
| Scel |
A |
G |
14: 103,809,451 (GRCm39) |
S264G |
probably benign |
Het |
| Sdk1 |
A |
G |
5: 142,144,376 (GRCm39) |
Q1712R |
possibly damaging |
Het |
| Slc15a1 |
A |
G |
14: 121,718,115 (GRCm39) |
Y255H |
probably benign |
Het |
| Syne1 |
C |
T |
10: 4,993,615 (GRCm39) |
G525D |
probably benign |
Het |
| Taldo1 |
T |
C |
7: 140,981,788 (GRCm39) |
V214A |
probably damaging |
Het |
| Tbc1d12 |
A |
G |
19: 38,889,853 (GRCm39) |
T428A |
probably damaging |
Het |
| Tlr6 |
T |
C |
5: 65,112,455 (GRCm39) |
K151E |
probably benign |
Het |
| Ubr2 |
T |
A |
17: 47,253,721 (GRCm39) |
D1468V |
probably benign |
Het |
| Ubtf |
A |
C |
11: 102,199,737 (GRCm39) |
Y463D |
probably damaging |
Het |
| Uroc1 |
A |
T |
6: 90,314,697 (GRCm39) |
M106L |
probably damaging |
Het |
| Vmn1r55 |
T |
A |
7: 5,149,869 (GRCm39) |
I185L |
probably benign |
Het |
| Vmn2r93 |
T |
A |
17: 18,525,230 (GRCm39) |
V296D |
probably damaging |
Het |
| Zfp65 |
A |
C |
13: 67,857,037 (GRCm39) |
Y81D |
probably damaging |
Het |
| Zw10 |
A |
T |
9: 48,988,783 (GRCm39) |
Y683F |
possibly 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 |
|
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 |
|
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'- GCTAGGTTACCCTGTCACTGAC -3'
(R):5'- TCTGCTCGGTTACACAGTG -3'
Sequencing Primer
(F):5'- TGTCACTGACGGCAAAGC -3'
(R):5'- TTATCTTGGACAAGGAAGCCC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation