Incidental Mutation 'R2567:Atp12a'
| ID |
254582 |
| 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 |
040426-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2567 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
56602525-56626007 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 56624384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 944
(D944V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007340]
|
| AlphaFold |
Q9Z1W8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007340
AA Change: D944V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000007340
Gene: ENSMUSG00000022229
AA Change: D944V
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
A |
G |
3: 59,836,475 (GRCm39) |
|
probably benign |
Het |
| Aebp1 |
A |
G |
11: 5,820,251 (GRCm39) |
D409G |
probably benign |
Het |
| Akap10 |
A |
G |
11: 61,784,175 (GRCm39) |
|
probably benign |
Het |
| Akap6 |
G |
T |
12: 52,985,156 (GRCm39) |
S863I |
probably damaging |
Het |
| Ap1s3 |
T |
C |
1: 79,602,921 (GRCm39) |
K29E |
possibly damaging |
Het |
| Atm |
T |
A |
9: 53,368,770 (GRCm39) |
I2341L |
possibly damaging |
Het |
| Baz2b |
A |
T |
2: 59,744,255 (GRCm39) |
S1417T |
possibly damaging |
Het |
| Cacna1a |
T |
A |
8: 85,276,354 (GRCm39) |
M613K |
probably damaging |
Het |
| Ccdc191 |
A |
C |
16: 43,764,330 (GRCm39) |
|
probably null |
Het |
| Cd209d |
T |
A |
8: 3,926,327 (GRCm39) |
N96I |
probably damaging |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cdk4 |
T |
G |
10: 126,900,145 (GRCm39) |
V14G |
probably benign |
Het |
| Chrna10 |
C |
A |
7: 101,761,276 (GRCm39) |
M438I |
probably benign |
Het |
| Clec10a |
T |
C |
11: 70,060,358 (GRCm39) |
|
probably null |
Het |
| Cog3 |
A |
G |
14: 75,991,730 (GRCm39) |
V40A |
probably benign |
Het |
| Creb3l3 |
T |
C |
10: 80,921,883 (GRCm39) |
H315R |
probably benign |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Cubn |
A |
G |
2: 13,283,167 (GRCm39) |
|
probably null |
Het |
| Cygb |
T |
C |
11: 116,540,692 (GRCm39) |
D98G |
probably damaging |
Het |
| Dmbx1 |
T |
C |
4: 115,777,489 (GRCm39) |
K120E |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,551,920 (GRCm39) |
I2800F |
possibly damaging |
Het |
| Dntt |
G |
T |
19: 41,029,775 (GRCm39) |
R245L |
possibly damaging |
Het |
| Dock1 |
T |
G |
7: 134,747,213 (GRCm39) |
V1508G |
probably damaging |
Het |
| Enpp4 |
A |
C |
17: 44,412,736 (GRCm39) |
I266R |
probably damaging |
Het |
| Fhl4 |
T |
C |
10: 84,934,644 (GRCm39) |
I46V |
possibly damaging |
Het |
| Fn1 |
G |
A |
1: 71,636,895 (GRCm39) |
Q1995* |
probably null |
Het |
| Foxl3 |
A |
G |
5: 138,805,940 (GRCm39) |
S36G |
probably null |
Het |
| Foxo1 |
T |
A |
3: 52,176,755 (GRCm39) |
L178H |
probably damaging |
Het |
| Galnt18 |
C |
T |
7: 111,153,823 (GRCm39) |
R267H |
probably damaging |
Het |
| Gm1110 |
T |
C |
9: 26,831,992 (GRCm39) |
D53G |
probably benign |
Het |
| Gm7104 |
A |
T |
12: 88,252,242 (GRCm39) |
|
noncoding transcript |
Het |
| H2-M11 |
C |
T |
17: 36,859,042 (GRCm39) |
T194I |
possibly damaging |
Het |
| Haus6 |
C |
A |
4: 86,504,122 (GRCm39) |
E501* |
probably null |
Het |
| Ifna5 |
T |
C |
4: 88,754,147 (GRCm39) |
V129A |
probably benign |
Het |
| Kdelr3 |
A |
G |
15: 79,407,032 (GRCm39) |
I38V |
probably benign |
Het |
| Lamb1 |
A |
G |
12: 31,319,054 (GRCm39) |
|
probably null |
Het |
| Larp7-ps |
T |
C |
4: 92,079,560 (GRCm39) |
E87G |
probably benign |
Het |
| Mgat4c |
T |
A |
10: 102,214,123 (GRCm39) |
F35L |
probably benign |
Het |
| Mmab |
A |
T |
5: 114,571,378 (GRCm39) |
M166K |
probably benign |
Het |
| Mrpl2 |
A |
G |
17: 46,958,427 (GRCm39) |
T70A |
probably benign |
Het |
| Naa11 |
C |
T |
5: 97,539,618 (GRCm39) |
G180D |
probably benign |
Het |
| Npy6r |
T |
C |
18: 44,408,888 (GRCm39) |
V103A |
possibly damaging |
Het |
| Nup188 |
A |
T |
2: 30,231,794 (GRCm39) |
R1463W |
possibly damaging |
Het |
| Nusap1 |
T |
A |
2: 119,474,311 (GRCm39) |
S336R |
possibly damaging |
Het |
| Or8b12c |
T |
A |
9: 37,715,509 (GRCm39) |
F101I |
probably damaging |
Het |
| Pabpc4 |
T |
A |
4: 123,191,744 (GRCm39) |
L589Q |
probably damaging |
Het |
| Pcdh12 |
T |
A |
18: 38,415,149 (GRCm39) |
N659Y |
probably damaging |
Het |
| Perm1 |
T |
C |
4: 156,301,575 (GRCm39) |
S40P |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,637,322 (GRCm39) |
T114A |
probably damaging |
Het |
| Pirt |
C |
T |
11: 66,816,985 (GRCm39) |
L99F |
probably damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,716,995 (GRCm39) |
R360G |
probably benign |
Het |
| Rhpn2 |
G |
A |
7: 35,080,957 (GRCm39) |
|
probably null |
Het |
| Rpusd2 |
T |
A |
2: 118,867,556 (GRCm39) |
I268N |
probably damaging |
Het |
| Sds |
G |
T |
5: 120,619,646 (GRCm39) |
W185L |
probably damaging |
Het |
| Serpinb5 |
A |
G |
1: 106,802,876 (GRCm39) |
K137R |
probably benign |
Het |
| Sh3pxd2a |
A |
G |
19: 47,413,008 (GRCm39) |
V25A |
possibly damaging |
Het |
| Slc1a2 |
C |
T |
2: 102,597,355 (GRCm39) |
T454I |
probably damaging |
Het |
| Slc25a40 |
T |
C |
5: 8,480,459 (GRCm39) |
C70R |
probably damaging |
Het |
| Smoc1 |
G |
A |
12: 81,214,364 (GRCm39) |
E260K |
probably damaging |
Het |
| Sparcl1 |
A |
T |
5: 104,232,954 (GRCm39) |
F616I |
probably damaging |
Het |
| Ssc5d |
A |
T |
7: 4,939,334 (GRCm39) |
D590V |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trpm2 |
C |
T |
10: 77,777,008 (GRCm39) |
V430M |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,574,672 (GRCm39) |
D25407G |
probably damaging |
Het |
| Vmn2r68 |
T |
C |
7: 84,883,803 (GRCm39) |
I101V |
probably benign |
Het |
| Xrcc4 |
A |
T |
13: 90,210,261 (GRCm39) |
M61K |
probably damaging |
Het |
| Zfp648 |
A |
G |
1: 154,080,695 (GRCm39) |
T285A |
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 |
|
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'- TGGAAGTAAGCCAACAGCC -3'
(R):5'- AATTTCCAAGGCCATGCACC -3'
Sequencing Primer
(F):5'- GCCACAATGGGGCAATATAAATTAC -3'
(R):5'- GGCCATGCACCCAACAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation