Incidental Mutation 'R0121:Atp4a'
| ID |
21034 |
| 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 |
038406-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R0121 (G1)
|
| Quality Score |
224 |
|
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: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 89.8%
|
| Validation Efficiency |
100% (63/63) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,298,945 (GRCm39) |
|
probably null |
Het |
| Adgra3 |
T |
C |
5: 50,183,128 (GRCm39) |
|
probably benign |
Het |
| Anxa7 |
A |
T |
14: 20,510,227 (GRCm39) |
L386M |
probably damaging |
Het |
| Ap2b1 |
A |
G |
11: 83,212,793 (GRCm39) |
M58V |
possibly damaging |
Het |
| Arfip2 |
A |
G |
7: 105,285,578 (GRCm39) |
L224P |
probably damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,750,251 (GRCm39) |
N373S |
possibly damaging |
Het |
| Asph |
T |
C |
4: 9,635,918 (GRCm39) |
D73G |
probably damaging |
Het |
| Atp1a2 |
T |
A |
1: 172,116,909 (GRCm39) |
E236V |
probably damaging |
Het |
| Atp2a1 |
A |
G |
7: 126,057,116 (GRCm39) |
S170P |
probably damaging |
Het |
| B4galnt3 |
C |
T |
6: 120,191,999 (GRCm39) |
R578H |
probably benign |
Het |
| Ccdc178 |
C |
A |
18: 21,978,081 (GRCm39) |
|
probably null |
Het |
| Ccnh |
T |
A |
13: 85,354,312 (GRCm39) |
M252K |
probably damaging |
Het |
| Clec4b2 |
A |
G |
6: 123,181,131 (GRCm39) |
D172G |
probably benign |
Het |
| Col1a1 |
A |
G |
11: 94,828,895 (GRCm39) |
E79G |
unknown |
Het |
| Csf3r |
A |
G |
4: 125,923,642 (GRCm39) |
N51D |
probably benign |
Het |
| Cul7 |
C |
T |
17: 46,974,299 (GRCm39) |
L1489F |
probably damaging |
Het |
| Cyp2b13 |
G |
A |
7: 25,786,010 (GRCm39) |
C309Y |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,001,327 (GRCm39) |
|
probably benign |
Het |
| Edn1 |
A |
G |
13: 42,458,741 (GRCm39) |
T135A |
probably benign |
Het |
| Ephb2 |
A |
G |
4: 136,498,368 (GRCm39) |
I237T |
probably damaging |
Het |
| Fam111a |
T |
A |
19: 12,561,444 (GRCm39) |
F12L |
probably benign |
Het |
| Foxi2 |
C |
A |
7: 135,013,640 (GRCm39) |
A290E |
probably benign |
Het |
| Gabra6 |
A |
G |
11: 42,205,798 (GRCm39) |
S353P |
probably benign |
Het |
| Gm4847 |
T |
C |
1: 166,469,857 (GRCm39) |
D72G |
probably damaging |
Het |
| Grhl3 |
A |
G |
4: 135,279,860 (GRCm39) |
I398T |
probably damaging |
Het |
| Gtdc1 |
T |
C |
2: 44,455,550 (GRCm39) |
|
probably benign |
Het |
| Kel |
A |
C |
6: 41,678,998 (GRCm39) |
|
probably benign |
Het |
| L3mbtl3 |
C |
T |
10: 26,189,768 (GRCm39) |
D499N |
unknown |
Het |
| Lama1 |
T |
A |
17: 68,105,508 (GRCm39) |
|
probably benign |
Het |
| Mamdc2 |
T |
A |
19: 23,288,223 (GRCm39) |
E605V |
probably benign |
Het |
| Nolc1 |
G |
A |
19: 46,069,817 (GRCm39) |
|
probably benign |
Het |
| Nudt12 |
A |
T |
17: 59,314,634 (GRCm39) |
S317T |
possibly damaging |
Het |
| Optn |
C |
T |
2: 5,028,926 (GRCm39) |
G526R |
probably damaging |
Het |
| Or4k35 |
A |
T |
2: 111,100,659 (GRCm39) |
C18S |
probably benign |
Het |
| Or5w20 |
A |
G |
2: 87,727,434 (GRCm39) |
K297R |
possibly damaging |
Het |
| Or8g23 |
T |
A |
9: 38,971,056 (GRCm39) |
K302M |
probably damaging |
Het |
| Or8k38 |
A |
G |
2: 86,488,163 (GRCm39) |
V213A |
probably benign |
Het |
| Pbld1 |
C |
T |
10: 62,907,282 (GRCm39) |
|
probably benign |
Het |
| Prl8a9 |
T |
G |
13: 27,744,589 (GRCm39) |
N84T |
probably benign |
Het |
| Psph |
T |
A |
5: 129,868,633 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
A |
G |
7: 110,088,426 (GRCm39) |
|
probably null |
Het |
| Senp6 |
A |
G |
9: 80,023,952 (GRCm39) |
D405G |
probably benign |
Het |
| Serpinb1a |
T |
A |
13: 33,032,754 (GRCm39) |
|
probably benign |
Het |
| Slc2a9 |
T |
C |
5: 38,556,086 (GRCm39) |
I287V |
probably benign |
Het |
| Sptbn2 |
T |
C |
19: 4,795,321 (GRCm39) |
F1593S |
probably damaging |
Het |
| Tcf21 |
T |
C |
10: 22,695,706 (GRCm39) |
T33A |
probably benign |
Het |
| Tdrd3 |
A |
T |
14: 87,776,915 (GRCm39) |
Q727L |
probably damaging |
Het |
| Tecpr1 |
C |
T |
5: 144,147,017 (GRCm39) |
E450K |
probably benign |
Het |
| Tenm3 |
G |
A |
8: 48,795,694 (GRCm39) |
T532I |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,612,630 (GRCm39) |
Q396L |
probably benign |
Het |
| Tmtc3 |
A |
G |
10: 100,294,770 (GRCm39) |
|
probably benign |
Het |
| Twnk |
T |
C |
19: 44,997,704 (GRCm39) |
|
probably benign |
Het |
| Ubac1 |
A |
G |
2: 25,898,871 (GRCm39) |
|
probably null |
Het |
| Ubn2 |
T |
C |
6: 38,429,793 (GRCm39) |
|
probably benign |
Het |
| Zfp944 |
T |
A |
17: 22,558,249 (GRCm39) |
T333S |
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 |
|
R0140: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 |
2013-04-11 |
Incidental Mutation