Incidental Mutation 'R0140:Atp4a'
| ID |
22252 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp4a
|
| Ensembl Gene |
ENSMUSG00000005553 |
| Gene Name |
ATPase, H+/K+ exchanging, gastric, alpha polypeptide |
| Synonyms |
H+K+-transporting alpha 1, H+/K+-ATPase alpha |
| MMRRC Submission |
038425-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R0140 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
7 |
| Chromosomal Location |
30411634-30424959 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 30419526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 659
(R659G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005692]
[ENSMUST00000170371]
[ENSMUST00000171014]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005692
AA Change: R659G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000005692
Gene: ENSMUSG00000005553
AA Change: R659G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:H-K_ATPase_N
|
2 |
42 |
5.4e-23 |
PFAM |
|
Cation_ATPase_N
|
52 |
126 |
2.26e-18 |
SMART |
|
Pfam:E1-E2_ATPase
|
144 |
375 |
1.1e-57 |
PFAM |
|
Pfam:Hydrolase
|
380 |
739 |
5.3e-16 |
PFAM |
|
Pfam:HAD
|
383 |
736 |
1.9e-18 |
PFAM |
|
Pfam:Cation_ATPase
|
436 |
531 |
1.6e-24 |
PFAM |
|
Pfam:Cation_ATPase_C
|
809 |
1019 |
4.8e-43 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165410
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167761
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170371
AA Change: R659G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000131964
Gene: ENSMUSG00000005553
AA Change: R659G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:H-K_ATPase_N
|
2 |
42 |
4.9e-28 |
PFAM |
|
Cation_ATPase_N
|
52 |
126 |
2.26e-18 |
SMART |
|
Pfam:E1-E2_ATPase
|
145 |
376 |
1e-62 |
PFAM |
|
Pfam:Hydrolase
|
380 |
730 |
9.3e-25 |
PFAM |
|
Pfam:HAD
|
383 |
727 |
2.1e-15 |
PFAM |
|
Pfam:Hydrolase_like2
|
436 |
531 |
4e-25 |
PFAM |
|
Pfam:Cation_ATPase_C
|
800 |
1010 |
1.5e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171014
|
| Meta Mutation Damage Score |
0.0961 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
98% (79/81) |
| 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 a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes a catalytic alpha subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in achlorhydria, hypergastrinemia, and abnormalities of the parietal cells. Mice homozygous for an ENU-induced allele exhibit iron-deficiency anemia. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted, knock-out(1) Targeted, other(2) |
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
C |
9: 124,057,789 (GRCm39) |
|
probably benign |
Het |
| 9330161L09Rik |
T |
C |
12: 103,373,587 (GRCm39) |
|
probably benign |
Het |
| Abca2 |
T |
G |
2: 25,328,097 (GRCm39) |
|
probably null |
Het |
| Adgrf3 |
T |
C |
5: 30,401,379 (GRCm39) |
K13R |
probably benign |
Het |
| Arhgap15 |
C |
A |
2: 44,212,779 (GRCm39) |
F416L |
probably damaging |
Het |
| Arhgef26 |
C |
G |
3: 62,355,666 (GRCm39) |
T746R |
probably benign |
Het |
| Aspm |
C |
T |
1: 139,408,379 (GRCm39) |
T2422I |
probably benign |
Het |
| AY358078 |
T |
A |
14: 52,063,399 (GRCm39) |
D348E |
probably benign |
Het |
| Blnk |
A |
T |
19: 40,928,668 (GRCm39) |
S285T |
probably damaging |
Het |
| Calr3 |
C |
T |
8: 73,188,732 (GRCm39) |
|
probably benign |
Het |
| Camsap2 |
A |
T |
1: 136,208,120 (GRCm39) |
V1124D |
probably benign |
Het |
| Ccdc40 |
G |
A |
11: 119,155,125 (GRCm39) |
G1122S |
probably benign |
Het |
| Ccdc69 |
C |
A |
11: 54,941,325 (GRCm39) |
C196F |
possibly damaging |
Het |
| Cdhr3 |
T |
G |
12: 33,130,412 (GRCm39) |
N141T |
probably benign |
Het |
| Cdk4 |
T |
C |
10: 126,900,214 (GRCm39) |
V37A |
probably damaging |
Het |
| Celsr2 |
C |
T |
3: 108,305,249 (GRCm39) |
R2110K |
probably benign |
Het |
| Clcn7 |
A |
G |
17: 25,372,728 (GRCm39) |
Y437C |
probably damaging |
Het |
| Col6a6 |
A |
G |
9: 105,579,474 (GRCm39) |
F1917S |
probably damaging |
Het |
| Cps1 |
T |
G |
1: 67,219,275 (GRCm39) |
S872A |
probably benign |
Het |
| Crebbp |
G |
T |
16: 3,935,363 (GRCm39) |
T842N |
probably damaging |
Het |
| Dennd2d |
G |
A |
3: 106,399,799 (GRCm39) |
V234I |
probably benign |
Het |
| Fam227b |
T |
C |
2: 125,966,523 (GRCm39) |
M130V |
possibly damaging |
Het |
| Fbxw24 |
G |
T |
9: 109,434,482 (GRCm39) |
L373I |
possibly damaging |
Het |
| Fubp3 |
T |
C |
2: 31,498,196 (GRCm39) |
Y359H |
probably damaging |
Het |
| Gm19684 |
T |
C |
17: 36,438,319 (GRCm39) |
|
probably benign |
Het |
| Hrnr |
C |
T |
3: 93,238,800 (GRCm39) |
Q3013* |
probably null |
Het |
| Il12rb1 |
T |
C |
8: 71,272,415 (GRCm39) |
|
probably benign |
Het |
| Lepr |
A |
T |
4: 101,625,264 (GRCm39) |
D473V |
probably damaging |
Het |
| Myof |
A |
T |
19: 37,940,004 (GRCm39) |
Y820* |
probably null |
Het |
| Nfil3 |
G |
A |
13: 53,121,681 (GRCm39) |
Q408* |
probably null |
Het |
| Nolc1 |
G |
A |
19: 46,069,817 (GRCm39) |
|
probably benign |
Het |
| Npbwr1 |
A |
C |
1: 5,986,840 (GRCm39) |
Y225D |
probably damaging |
Het |
| Nrip3 |
T |
C |
7: 109,361,022 (GRCm39) |
|
probably benign |
Het |
| Ntrk1 |
A |
C |
3: 87,685,875 (GRCm39) |
L749R |
probably damaging |
Het |
| Or10ag53 |
A |
G |
2: 87,082,969 (GRCm39) |
I229M |
probably damaging |
Het |
| Or2b11 |
A |
G |
11: 59,461,804 (GRCm39) |
L254P |
probably damaging |
Het |
| Or4c126 |
T |
A |
2: 89,824,463 (GRCm39) |
V242D |
probably damaging |
Het |
| Or52a24 |
A |
G |
7: 103,381,349 (GRCm39) |
D72G |
probably damaging |
Het |
| Or6c211 |
G |
T |
10: 129,505,557 (GRCm39) |
T277N |
probably damaging |
Het |
| Paox |
A |
T |
7: 139,713,971 (GRCm39) |
T244S |
probably damaging |
Het |
| Pcdhb9 |
T |
A |
18: 37,536,014 (GRCm39) |
D669E |
possibly damaging |
Het |
| Pggt1b |
A |
G |
18: 46,391,150 (GRCm39) |
|
probably null |
Het |
| Phkg1 |
T |
A |
5: 129,893,449 (GRCm39) |
I334F |
probably benign |
Het |
| Phtf1 |
A |
T |
3: 103,894,876 (GRCm39) |
R208W |
probably null |
Het |
| Pnliprp2 |
A |
T |
19: 58,754,795 (GRCm39) |
I280F |
probably benign |
Het |
| Pnma8a |
A |
G |
7: 16,694,147 (GRCm39) |
M1V |
probably null |
Het |
| Prcp |
A |
G |
7: 92,577,819 (GRCm39) |
T328A |
probably damaging |
Het |
| Pxdn |
A |
G |
12: 30,032,753 (GRCm39) |
E179G |
probably benign |
Het |
| Racgap1 |
A |
T |
15: 99,521,532 (GRCm39) |
N541K |
probably benign |
Het |
| Rnf103 |
T |
A |
6: 71,486,315 (GRCm39) |
F315L |
possibly damaging |
Het |
| Septin2 |
A |
G |
1: 93,429,361 (GRCm39) |
R237G |
probably damaging |
Het |
| Setd6 |
T |
A |
8: 96,442,737 (GRCm39) |
L58Q |
probably damaging |
Het |
| Sipa1l1 |
G |
A |
12: 82,442,974 (GRCm39) |
V755I |
probably damaging |
Het |
| Slc16a12 |
G |
T |
19: 34,650,104 (GRCm39) |
|
probably benign |
Het |
| Slk |
G |
A |
19: 47,610,774 (GRCm39) |
D815N |
probably damaging |
Het |
| Stx1a |
T |
C |
5: 135,074,439 (GRCm39) |
|
probably benign |
Het |
| Tbc1d15 |
T |
A |
10: 115,056,124 (GRCm39) |
I283F |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,545,259 (GRCm39) |
I2425T |
possibly damaging |
Het |
| Tle1 |
G |
A |
4: 72,038,422 (GRCm39) |
H702Y |
probably damaging |
Het |
| Tmc6 |
A |
G |
11: 117,657,077 (GRCm39) |
|
probably benign |
Het |
| Tmem268 |
G |
A |
4: 63,496,096 (GRCm39) |
R179H |
possibly damaging |
Het |
| Tmem9 |
A |
G |
1: 135,961,900 (GRCm39) |
K165R |
probably damaging |
Het |
| Trpm6 |
A |
G |
19: 18,796,558 (GRCm39) |
|
probably null |
Het |
| Tufm |
C |
T |
7: 126,089,003 (GRCm39) |
P88S |
probably damaging |
Het |
| Ubqln1 |
A |
G |
13: 58,341,103 (GRCm39) |
I216T |
probably damaging |
Het |
| Urad |
T |
G |
5: 147,259,141 (GRCm39) |
M1L |
probably benign |
Het |
| Utp6 |
A |
G |
11: 79,847,551 (GRCm39) |
|
probably benign |
Het |
| Vav2 |
C |
T |
2: 27,163,688 (GRCm39) |
|
probably benign |
Het |
| Vmn2r55 |
G |
T |
7: 12,402,104 (GRCm39) |
Q395K |
possibly damaging |
Het |
| Wwox |
T |
G |
8: 115,433,027 (GRCm39) |
V231G |
probably damaging |
Het |
| Zfp646 |
T |
A |
7: 127,482,678 (GRCm39) |
N1618K |
probably benign |
Het |
| Zzef1 |
G |
A |
11: 72,790,377 (GRCm39) |
M2110I |
possibly damaging |
Het |
|
| Other mutations in Atp4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00339:Atp4a
|
APN |
7 |
30,412,629 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01327:Atp4a
|
APN |
7 |
30,412,675 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL01510:Atp4a
|
APN |
7 |
30,420,216 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01763:Atp4a
|
APN |
7 |
30,414,943 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02061:Atp4a
|
APN |
7 |
30,414,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02435:Atp4a
|
APN |
7 |
30,416,482 (GRCm39) |
missense |
probably benign |
|
|
IGL02903:Atp4a
|
APN |
7 |
30,415,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03181:Atp4a
|
APN |
7 |
30,424,129 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03350:Atp4a
|
APN |
7 |
30,420,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
atypical
|
UTSW |
7 |
30,414,781 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
sublytic
|
UTSW |
7 |
30,415,225 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL03097:Atp4a
|
UTSW |
7 |
30,422,462 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0095:Atp4a
|
UTSW |
7 |
30,420,160 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0121:Atp4a
|
UTSW |
7 |
30,419,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0241:Atp4a
|
UTSW |
7 |
30,416,560 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0437:Atp4a
|
UTSW |
7 |
30,419,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0624:Atp4a
|
UTSW |
7 |
30,418,424 (GRCm39) |
missense |
probably benign |
|
|
R1164:Atp4a
|
UTSW |
7 |
30,417,117 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2105:Atp4a
|
UTSW |
7 |
30,419,793 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2272:Atp4a
|
UTSW |
7 |
30,414,925 (GRCm39) |
nonsense |
probably null |
|
|
R2327:Atp4a
|
UTSW |
7 |
30,419,666 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2881:Atp4a
|
UTSW |
7 |
30,419,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2990:Atp4a
|
UTSW |
7 |
30,419,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2992:Atp4a
|
UTSW |
7 |
30,419,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2993:Atp4a
|
UTSW |
7 |
30,419,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3123:Atp4a
|
UTSW |
7 |
30,419,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3125:Atp4a
|
UTSW |
7 |
30,419,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3441:Atp4a
|
UTSW |
7 |
30,419,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3442:Atp4a
|
UTSW |
7 |
30,419,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3686:Atp4a
|
UTSW |
7 |
30,419,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3687:Atp4a
|
UTSW |
7 |
30,419,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3845:Atp4a
|
UTSW |
7 |
30,416,540 (GRCm39) |
missense |
probably null |
0.99 |
|
R4027:Atp4a
|
UTSW |
7 |
30,424,377 (GRCm39) |
splice site |
probably null |
|
|
R4072:Atp4a
|
UTSW |
7 |
30,414,757 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4433:Atp4a
|
UTSW |
7 |
30,419,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4454:Atp4a
|
UTSW |
7 |
30,419,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4457:Atp4a
|
UTSW |
7 |
30,419,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4458:Atp4a
|
UTSW |
7 |
30,419,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4510:Atp4a
|
UTSW |
7 |
30,423,678 (GRCm39) |
nonsense |
probably null |
|
|
R4511:Atp4a
|
UTSW |
7 |
30,423,678 (GRCm39) |
nonsense |
probably null |
|
|
R4576:Atp4a
|
UTSW |
7 |
30,417,147 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4656:Atp4a
|
UTSW |
7 |
30,419,373 (GRCm39) |
intron |
probably benign |
|
|
R4661:Atp4a
|
UTSW |
7 |
30,419,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4662:Atp4a
|
UTSW |
7 |
30,419,650 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4852:Atp4a
|
UTSW |
7 |
30,423,693 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4892:Atp4a
|
UTSW |
7 |
30,411,899 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4907:Atp4a
|
UTSW |
7 |
30,418,517 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5024:Atp4a
|
UTSW |
7 |
30,415,289 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5254:Atp4a
|
UTSW |
7 |
30,414,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5318:Atp4a
|
UTSW |
7 |
30,414,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5340:Atp4a
|
UTSW |
7 |
30,420,231 (GRCm39) |
missense |
probably benign |
|
|
R5484:Atp4a
|
UTSW |
7 |
30,420,097 (GRCm39) |
unclassified |
probably benign |
|
|
R5729:Atp4a
|
UTSW |
7 |
30,411,851 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5762:Atp4a
|
UTSW |
7 |
30,418,521 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5797:Atp4a
|
UTSW |
7 |
30,412,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Atp4a
|
UTSW |
7 |
30,421,941 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6030:Atp4a
|
UTSW |
7 |
30,421,941 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6077:Atp4a
|
UTSW |
7 |
30,415,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6243:Atp4a
|
UTSW |
7 |
30,415,382 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6346:Atp4a
|
UTSW |
7 |
30,414,781 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6459:Atp4a
|
UTSW |
7 |
30,411,887 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6515:Atp4a
|
UTSW |
7 |
30,411,903 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6773:Atp4a
|
UTSW |
7 |
30,414,802 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6854:Atp4a
|
UTSW |
7 |
30,414,433 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7215:Atp4a
|
UTSW |
7 |
30,416,785 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7271:Atp4a
|
UTSW |
7 |
30,421,944 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7340:Atp4a
|
UTSW |
7 |
30,416,155 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7457:Atp4a
|
UTSW |
7 |
30,420,192 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7593:Atp4a
|
UTSW |
7 |
30,424,105 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7712:Atp4a
|
UTSW |
7 |
30,414,978 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7762:Atp4a
|
UTSW |
7 |
30,419,461 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8714:Atp4a
|
UTSW |
7 |
30,420,013 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9324:Atp4a
|
UTSW |
7 |
30,415,207 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Atp4a
|
UTSW |
7 |
30,417,265 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Z1186:Atp4a
|
UTSW |
7 |
30,416,782 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGGGACATTGCTCTGATCTGAAGG -3'
(R):5'- CAATCACCAGCTTCTGCTGAGGAC -3'
Sequencing Primer
(F):5'- CTCTGATCTGAAGGGGTGAAG -3'
(R):5'- TCAGTCAGTGTGGGTTGCA -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation