Incidental Mutation 'R2105:Atp4a'
ID |
230871 |
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 |
040109-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.098)
|
Stock # |
R2105 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
30411634-30424959 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to A
at 30419793 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000005692
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005692]
[ENSMUST00000170371]
[ENSMUST00000171014]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000005692
|
SMART Domains |
Protein: ENSMUSP00000005692 Gene: ENSMUSG00000005553
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
|
SMART Domains |
Protein: ENSMUSP00000131964 Gene: ENSMUSG00000005553
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
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 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: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
C |
T |
6: 121,650,459 (GRCm39) |
P1189L |
probably benign |
Het |
Acbd4 |
G |
A |
11: 102,995,265 (GRCm39) |
D57N |
probably damaging |
Het |
Acot4 |
A |
T |
12: 84,085,516 (GRCm39) |
M78L |
probably damaging |
Het |
Ago1 |
A |
T |
4: 126,355,581 (GRCm39) |
M76K |
probably benign |
Het |
Agrn |
G |
T |
4: 156,261,756 (GRCm39) |
Y511* |
probably null |
Het |
Arhgef15 |
A |
T |
11: 68,838,507 (GRCm39) |
|
probably null |
Het |
Atp1a3 |
A |
T |
7: 24,689,278 (GRCm39) |
M594K |
probably damaging |
Het |
Bckdk |
T |
A |
7: 127,506,489 (GRCm39) |
I272N |
probably damaging |
Het |
Bod1l |
A |
G |
5: 41,989,622 (GRCm39) |
V367A |
probably benign |
Het |
C1galt1c1 |
T |
C |
X: 37,720,145 (GRCm39) |
M284V |
possibly damaging |
Het |
Cenpk |
T |
A |
13: 104,366,105 (GRCm39) |
C4* |
probably null |
Het |
Cfap53 |
T |
C |
18: 74,416,294 (GRCm39) |
V9A |
possibly damaging |
Het |
Chil3 |
T |
C |
3: 106,067,794 (GRCm39) |
I124V |
possibly damaging |
Het |
Creld2 |
G |
A |
15: 88,704,834 (GRCm39) |
W103* |
probably null |
Het |
Cyp2c67 |
T |
C |
19: 39,614,681 (GRCm39) |
Y282C |
probably benign |
Het |
D5Ertd579e |
C |
T |
5: 36,770,793 (GRCm39) |
A1201T |
probably benign |
Het |
Dock4 |
A |
G |
12: 40,742,988 (GRCm39) |
H381R |
probably benign |
Het |
Drc1 |
C |
T |
5: 30,513,785 (GRCm39) |
S447F |
probably benign |
Het |
Fam83g |
G |
T |
11: 61,594,284 (GRCm39) |
R606L |
probably benign |
Het |
Fmnl1 |
A |
C |
11: 103,085,518 (GRCm39) |
S688R |
probably benign |
Het |
Fryl |
C |
T |
5: 73,279,642 (GRCm39) |
V219I |
probably benign |
Het |
Golgb1 |
T |
A |
16: 36,735,026 (GRCm39) |
N1424K |
probably benign |
Het |
Gpr39 |
T |
C |
1: 125,605,621 (GRCm39) |
V183A |
possibly damaging |
Het |
H2-T22 |
A |
T |
17: 36,351,409 (GRCm39) |
Y274N |
probably benign |
Het |
Hif1a |
T |
A |
12: 73,984,519 (GRCm39) |
Y313N |
probably damaging |
Het |
Hip1r |
T |
A |
5: 124,138,267 (GRCm39) |
M787K |
probably damaging |
Het |
Hipk3 |
T |
C |
2: 104,269,737 (GRCm39) |
E484G |
probably damaging |
Het |
Hsh2d |
T |
A |
8: 72,954,490 (GRCm39) |
F291I |
probably benign |
Het |
Ino80 |
T |
C |
2: 119,262,410 (GRCm39) |
E692G |
probably null |
Het |
Itgam |
T |
A |
7: 127,680,884 (GRCm39) |
V271D |
probably damaging |
Het |
Kansl1 |
A |
C |
11: 104,226,385 (GRCm39) |
I924S |
probably damaging |
Het |
Kcnq2 |
A |
G |
2: 180,723,145 (GRCm39) |
C628R |
probably benign |
Het |
Krt78 |
A |
C |
15: 101,855,849 (GRCm39) |
V654G |
possibly damaging |
Het |
Lrit2 |
A |
G |
14: 36,793,913 (GRCm39) |
T326A |
probably damaging |
Het |
Ltk |
T |
C |
2: 119,582,569 (GRCm39) |
E710G |
probably damaging |
Het |
Lysmd1 |
T |
C |
3: 95,042,285 (GRCm39) |
L53S |
probably damaging |
Het |
Mc4r |
T |
C |
18: 66,992,669 (GRCm39) |
Y148C |
probably damaging |
Het |
Mfn2 |
G |
A |
4: 147,973,162 (GRCm39) |
Q172* |
probably null |
Het |
Mknk2 |
A |
G |
10: 80,504,435 (GRCm39) |
L242P |
possibly damaging |
Het |
Mrpl45 |
A |
T |
11: 97,216,573 (GRCm39) |
H167L |
probably benign |
Het |
Myc |
T |
C |
15: 61,859,951 (GRCm39) |
V208A |
probably damaging |
Het |
Myh7b |
A |
G |
2: 155,471,377 (GRCm39) |
E1175G |
probably benign |
Het |
Myo18a |
A |
T |
11: 77,741,060 (GRCm39) |
M1456L |
probably benign |
Het |
Myocd |
G |
A |
11: 65,109,484 (GRCm39) |
Q96* |
probably null |
Het |
Nckap5 |
T |
A |
1: 125,954,255 (GRCm39) |
I766F |
probably damaging |
Het |
Ndst1 |
T |
C |
18: 60,824,325 (GRCm39) |
E784G |
probably benign |
Het |
Nf1 |
A |
T |
11: 79,360,652 (GRCm39) |
R1443S |
possibly damaging |
Het |
Nhlrc3 |
A |
G |
3: 53,361,072 (GRCm39) |
W228R |
probably damaging |
Het |
Nup107 |
G |
A |
10: 117,609,225 (GRCm39) |
T378I |
probably damaging |
Het |
Or14c40 |
A |
T |
7: 86,313,591 (GRCm39) |
K240N |
probably damaging |
Het |
Or1o3 |
A |
T |
17: 37,573,964 (GRCm39) |
M197K |
probably benign |
Het |
Or52d13 |
T |
A |
7: 103,109,480 (GRCm39) |
|
probably null |
Het |
Or5m3b |
C |
T |
2: 85,871,674 (GRCm39) |
T5I |
probably damaging |
Het |
Or5w11 |
A |
G |
2: 87,459,283 (GRCm39) |
T159A |
probably benign |
Het |
Or6b13 |
T |
A |
7: 139,782,656 (GRCm39) |
D9V |
probably benign |
Het |
Otop1 |
A |
G |
5: 38,457,801 (GRCm39) |
D520G |
probably benign |
Het |
Papln |
C |
T |
12: 83,827,010 (GRCm39) |
P712S |
probably benign |
Het |
Pcbd2 |
T |
A |
13: 55,880,846 (GRCm39) |
I34N |
probably damaging |
Het |
Pkd1l3 |
T |
A |
8: 110,374,205 (GRCm39) |
C29* |
probably null |
Het |
Pou5f1 |
G |
A |
17: 35,820,899 (GRCm39) |
V114M |
probably benign |
Het |
Pramel28 |
A |
T |
4: 143,692,390 (GRCm39) |
Y204N |
probably benign |
Het |
Prpf4b |
C |
A |
13: 35,068,214 (GRCm39) |
|
probably benign |
Het |
Prr23a1 |
C |
T |
9: 98,724,709 (GRCm39) |
P24S |
probably damaging |
Het |
Ptch1 |
T |
A |
13: 63,693,059 (GRCm39) |
M65L |
probably benign |
Het |
Rc3h2 |
A |
T |
2: 37,289,636 (GRCm39) |
I392K |
possibly damaging |
Het |
Reck |
G |
T |
4: 43,943,195 (GRCm39) |
D916Y |
probably damaging |
Het |
Rtf2 |
A |
G |
2: 172,287,285 (GRCm39) |
D68G |
probably damaging |
Het |
Ryr1 |
G |
T |
7: 28,789,575 (GRCm39) |
T1513K |
probably damaging |
Het |
Sacs |
A |
G |
14: 61,410,890 (GRCm39) |
D55G |
possibly damaging |
Het |
Scn9a |
A |
G |
2: 66,398,527 (GRCm39) |
S28P |
probably benign |
Het |
Scrn3 |
A |
G |
2: 73,160,196 (GRCm39) |
M280V |
probably damaging |
Het |
Snx29 |
C |
T |
16: 11,328,898 (GRCm39) |
T559I |
possibly damaging |
Het |
Spn |
C |
T |
7: 126,735,413 (GRCm39) |
E109K |
probably damaging |
Het |
Sra1 |
C |
T |
18: 36,808,121 (GRCm39) |
R369H |
probably benign |
Het |
Srsf11 |
C |
T |
3: 157,724,982 (GRCm39) |
A64T |
probably damaging |
Het |
Stk17b |
A |
G |
1: 53,815,764 (GRCm39) |
S12P |
probably benign |
Het |
Sult1d1 |
C |
A |
5: 87,707,661 (GRCm39) |
G153V |
probably damaging |
Het |
Sycp2 |
A |
T |
2: 177,991,931 (GRCm39) |
|
probably null |
Het |
Tgfb3 |
T |
C |
12: 86,116,543 (GRCm39) |
E165G |
possibly damaging |
Het |
Tns2 |
C |
A |
15: 102,015,941 (GRCm39) |
H160N |
probably benign |
Het |
Ubn1 |
T |
A |
16: 4,895,088 (GRCm39) |
C711* |
probably null |
Het |
Usp13 |
A |
T |
3: 32,956,135 (GRCm39) |
D469V |
probably damaging |
Het |
Vmn1r231 |
A |
T |
17: 21,110,380 (GRCm39) |
H178Q |
possibly damaging |
Het |
Vwa1 |
A |
G |
4: 155,857,250 (GRCm39) |
S183P |
probably damaging |
Het |
Xpo7 |
A |
G |
14: 70,928,431 (GRCm39) |
I424T |
probably benign |
Het |
Zfp109 |
A |
G |
7: 23,936,041 (GRCm39) |
|
probably null |
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 |
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'- TGCAACCCACACTGACTGAG -3'
(R):5'- TTTTAGCAGCATCCGAGCC -3'
Sequencing Primer
(F):5'- TGACTGAGACCCCAGCAAG -3'
(R):5'- GCATCCGAGCCAGCAATG -3'
|
Posted On |
2014-09-18 |