Incidental Mutation 'R5024:Atp4a'
ID |
391227 |
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 |
042615-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.085)
|
Stock # |
R5024 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
30411634-30424959 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 30415289 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 303
(D303A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131964
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005692]
[ENSMUST00000170371]
[ENSMUST00000171014]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005692
AA Change: D303A
PolyPhen 2
Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000005692 Gene: ENSMUSG00000005553 AA Change: D303A
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: ENSMUST00000167761
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170371
AA Change: D303A
PolyPhen 2
Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000131964 Gene: ENSMUSG00000005553 AA Change: D303A
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 |
0.4875 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
Validation Efficiency |
99% (95/96) |
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: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrd1 |
A |
G |
5: 129,248,959 (GRCm39) |
N575S |
probably damaging |
Het |
Akap6 |
C |
T |
12: 53,189,345 (GRCm39) |
T2253M |
probably benign |
Het |
Arhgef37 |
A |
C |
18: 61,639,511 (GRCm39) |
N289K |
probably damaging |
Het |
Atad2b |
A |
C |
12: 4,987,534 (GRCm39) |
T121P |
probably benign |
Het |
Calu |
A |
T |
6: 29,374,518 (GRCm39) |
|
probably benign |
Het |
Ccdc141 |
A |
C |
2: 76,885,047 (GRCm39) |
N531K |
probably benign |
Het |
Ccdc146 |
T |
C |
5: 21,604,612 (GRCm39) |
|
probably null |
Het |
Cd207 |
G |
A |
6: 83,651,301 (GRCm39) |
T218I |
probably damaging |
Het |
Cd2ap |
A |
C |
17: 43,116,236 (GRCm39) |
|
probably null |
Het |
Ceacam23 |
A |
G |
7: 17,644,607 (GRCm39) |
I575V |
probably benign |
Het |
Clip3 |
G |
A |
7: 29,991,644 (GRCm39) |
|
probably benign |
Het |
Clstn1 |
G |
A |
4: 149,719,751 (GRCm39) |
R432H |
possibly damaging |
Het |
Csmd2 |
A |
G |
4: 128,215,141 (GRCm39) |
Y521C |
possibly damaging |
Het |
Dnah8 |
A |
T |
17: 30,955,070 (GRCm39) |
E2033V |
probably damaging |
Het |
Eng |
T |
G |
2: 32,563,404 (GRCm39) |
V319G |
probably benign |
Het |
Erp44 |
C |
T |
4: 48,241,296 (GRCm39) |
W57* |
probably null |
Het |
Etv1 |
T |
A |
12: 38,904,233 (GRCm39) |
|
probably null |
Het |
Eva1c |
T |
C |
16: 90,673,081 (GRCm39) |
|
probably null |
Het |
Fam221b |
T |
A |
4: 43,659,674 (GRCm39) |
N482I |
probably damaging |
Het |
Fam83h |
T |
C |
15: 75,876,991 (GRCm39) |
H202R |
probably damaging |
Het |
Fbxw13 |
T |
C |
9: 109,008,403 (GRCm39) |
T449A |
probably benign |
Het |
Fbxw25 |
A |
T |
9: 109,492,442 (GRCm39) |
|
probably null |
Het |
Frmd3 |
T |
A |
4: 74,016,381 (GRCm39) |
S99T |
probably benign |
Het |
Gm5174 |
G |
T |
10: 86,492,451 (GRCm39) |
|
noncoding transcript |
Het |
Gm815 |
C |
T |
19: 26,865,175 (GRCm39) |
Q49* |
probably null |
Het |
H2-DMa |
A |
T |
17: 34,357,461 (GRCm39) |
I245F |
possibly damaging |
Het |
Herc1 |
A |
T |
9: 66,377,608 (GRCm39) |
K3458M |
possibly damaging |
Het |
Hirip3 |
A |
G |
7: 126,463,661 (GRCm39) |
|
probably null |
Het |
Hjurp |
A |
T |
1: 88,202,772 (GRCm39) |
Y71N |
possibly damaging |
Het |
Hmcn1 |
T |
A |
1: 150,556,439 (GRCm39) |
E2449V |
possibly damaging |
Het |
Igll1 |
G |
T |
16: 16,681,657 (GRCm39) |
H33N |
probably benign |
Het |
Il6 |
T |
C |
5: 30,224,512 (GRCm39) |
L184P |
probably damaging |
Het |
Impg2 |
T |
A |
16: 56,080,463 (GRCm39) |
S756T |
probably damaging |
Het |
Insyn2a |
A |
G |
7: 134,520,207 (GRCm39) |
S108P |
probably damaging |
Het |
Kank4 |
T |
G |
4: 98,673,898 (GRCm39) |
D5A |
probably damaging |
Het |
Kcna7 |
G |
A |
7: 45,056,015 (GRCm39) |
R77H |
probably damaging |
Het |
Kcns2 |
A |
T |
15: 34,839,683 (GRCm39) |
T349S |
probably benign |
Het |
Keap1 |
A |
G |
9: 21,148,522 (GRCm39) |
Y162H |
probably damaging |
Het |
Kif9 |
T |
C |
9: 110,312,161 (GRCm39) |
F10L |
possibly damaging |
Het |
Klhdc8b |
ACACGCACGCACGCACGCACGCACGCACGCACGCACGCAC |
ACACGCACGCACGCACGCACGCACGCACGCACGCACGCACGCAC |
9: 108,326,184 (GRCm39) |
|
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lpar6 |
A |
G |
14: 73,476,809 (GRCm39) |
T257A |
probably damaging |
Het |
Lpin1 |
A |
T |
12: 16,604,007 (GRCm39) |
L608Q |
probably benign |
Het |
Lyst |
T |
C |
13: 13,808,989 (GRCm39) |
S220P |
probably benign |
Het |
M1ap |
A |
G |
6: 83,005,339 (GRCm39) |
|
probably benign |
Het |
Mbd6 |
C |
T |
10: 127,122,310 (GRCm39) |
V173I |
probably benign |
Het |
Myo5b |
A |
T |
18: 74,849,105 (GRCm39) |
T1115S |
possibly damaging |
Het |
Mysm1 |
C |
A |
4: 94,839,253 (GRCm39) |
V683F |
possibly damaging |
Het |
Nlrp4g |
T |
A |
9: 124,350,155 (GRCm38) |
|
noncoding transcript |
Het |
Odad2 |
T |
C |
18: 7,088,555 (GRCm39) |
M1005V |
probably benign |
Het |
Or14c39 |
A |
T |
7: 86,344,089 (GRCm39) |
M142L |
probably benign |
Het |
Or2ak5 |
T |
A |
11: 58,611,776 (GRCm39) |
I33F |
probably benign |
Het |
Or5al6 |
G |
T |
2: 85,976,877 (GRCm39) |
A67E |
probably damaging |
Het |
Or8j3c |
C |
T |
2: 86,253,805 (GRCm39) |
G72S |
possibly damaging |
Het |
Otud6b |
T |
A |
4: 14,826,293 (GRCm39) |
Q34L |
probably damaging |
Het |
Parp11 |
C |
T |
6: 127,448,599 (GRCm39) |
T72I |
probably damaging |
Het |
Pbx1 |
T |
A |
1: 168,011,158 (GRCm39) |
D343V |
possibly damaging |
Het |
Phf11 |
T |
C |
14: 59,495,932 (GRCm39) |
|
probably null |
Het |
Ppp1r12b |
G |
T |
1: 134,883,471 (GRCm39) |
A17E |
probably benign |
Het |
Pramel15 |
C |
A |
4: 144,099,878 (GRCm39) |
E296* |
probably null |
Het |
Ranbp9 |
A |
T |
13: 43,588,331 (GRCm39) |
I67N |
probably damaging |
Het |
Rasgrp4 |
A |
G |
7: 28,847,832 (GRCm39) |
E414G |
probably damaging |
Het |
Rbbp5 |
A |
G |
1: 132,418,226 (GRCm39) |
H15R |
possibly damaging |
Het |
Scd2 |
A |
G |
19: 44,289,710 (GRCm39) |
Y235C |
probably benign |
Het |
Sdr16c5 |
C |
T |
4: 4,010,365 (GRCm39) |
G170S |
probably damaging |
Het |
Sh3bp4 |
G |
T |
1: 89,073,317 (GRCm39) |
G722C |
probably damaging |
Het |
Shmt1 |
A |
T |
11: 60,688,305 (GRCm39) |
|
probably benign |
Het |
Slc12a1 |
A |
G |
2: 125,008,057 (GRCm39) |
I206V |
probably benign |
Het |
Slc26a3 |
A |
G |
12: 31,503,907 (GRCm39) |
D304G |
probably benign |
Het |
Slc26a7 |
T |
A |
4: 14,532,572 (GRCm39) |
D434V |
possibly damaging |
Het |
Slc6a16 |
G |
T |
7: 44,909,390 (GRCm39) |
M185I |
probably benign |
Het |
Stat4 |
A |
G |
1: 52,121,729 (GRCm39) |
I363V |
possibly damaging |
Het |
Tgfb1i1 |
G |
T |
7: 127,847,389 (GRCm39) |
M1I |
probably null |
Het |
Thoc2l |
A |
G |
5: 104,670,124 (GRCm39) |
K1549E |
possibly damaging |
Het |
Tmem225 |
T |
C |
9: 40,060,639 (GRCm39) |
V66A |
probably benign |
Het |
Tmtc4 |
T |
C |
14: 123,178,714 (GRCm39) |
|
probably null |
Het |
Trpc4 |
T |
A |
3: 54,102,217 (GRCm39) |
N38K |
probably benign |
Het |
Ttll12 |
A |
T |
15: 83,471,314 (GRCm39) |
Y218N |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,778,769 (GRCm39) |
|
probably null |
Het |
Tulp1 |
A |
C |
17: 28,570,969 (GRCm39) |
Y178* |
probably null |
Het |
Vmn2r58 |
A |
G |
7: 41,513,746 (GRCm39) |
V299A |
probably damaging |
Het |
Washc4 |
C |
A |
10: 83,419,200 (GRCm39) |
Q911K |
possibly damaging |
Het |
Wdr3 |
T |
C |
3: 100,062,252 (GRCm39) |
D221G |
probably benign |
Het |
Zan |
A |
T |
5: 137,460,155 (GRCm39) |
C1245* |
probably null |
Het |
Zfyve9 |
A |
C |
4: 108,548,866 (GRCm39) |
S773A |
probably benign |
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 |
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 |
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'- TATCACAGAGCACCTTTCTGG -3'
(R):5'- CTGGTGGGATGACTGAACAAGC -3'
Sequencing Primer
(F):5'- GTGCTGCCCACCTCACC -3'
(R):5'- GATGACTGAACAAGCAGCTCTCTG -3'
|
Posted On |
2016-06-06 |