Incidental Mutation 'R5762:Atp4a'
| ID |
446053 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp4a
|
| Ensembl Gene |
ENSMUSG00000005553 |
| Gene Name |
ATPase, H+/K+ exchanging, gastric, alpha polypeptide |
| Synonyms |
H+/K+-ATPase alpha, H+K+-transporting alpha 1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R5762 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
30712209-30725534 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30719096 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 603
(D603G)
|
| 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 damaging
Transcript: ENSMUST00000005692
AA Change: D603G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000005692
Gene: ENSMUSG00000005553
AA Change: D603G
| 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 damaging
Transcript: ENSMUST00000170371
AA Change: D603G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131964
Gene: ENSMUSG00000005553
AA Change: D603G
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 76,896,598 (GRCm38) |
D148E |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,581,665 (GRCm38) |
I4631V |
probably damaging |
Het |
| Adamts16 |
A |
T |
13: 70,738,498 (GRCm38) |
W1058R |
probably damaging |
Het |
| Adgrf5 |
A |
G |
17: 43,430,695 (GRCm38) |
I163V |
probably null |
Het |
| Ano1 |
T |
A |
7: 144,648,037 (GRCm38) |
Y338F |
probably damaging |
Het |
| B020031M17Rik |
T |
A |
13: 119,949,965 (GRCm38) |
Q35L |
probably benign |
Het |
| Bmp2k |
GGCCCGC |
GGC |
5: 97,087,191 (GRCm38) |
|
probably null |
Het |
| Brinp2 |
T |
C |
1: 158,246,586 (GRCm38) |
D655G |
probably benign |
Het |
| C3ar1 |
A |
G |
6: 122,850,362 (GRCm38) |
S299P |
probably benign |
Het |
| Calhm1 |
T |
A |
19: 47,143,619 (GRCm38) |
|
probably null |
Het |
| Ccdc187 |
G |
A |
2: 26,276,092 (GRCm38) |
P775L |
possibly damaging |
Het |
| Cd27 |
A |
G |
6: 125,236,598 (GRCm38) |
F48S |
probably damaging |
Het |
| Cfap52 |
A |
G |
11: 67,954,121 (GRCm38) |
Y41H |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 9,748,389 (GRCm38) |
S701P |
possibly damaging |
Het |
| Ctbp2 |
G |
T |
7: 132,995,359 (GRCm38) |
A665D |
probably damaging |
Het |
| Ctsd |
C |
A |
7: 142,383,529 (GRCm38) |
G81C |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,450,750 (GRCm38) |
D246H |
probably benign |
Het |
| Dpysl4 |
C |
T |
7: 139,091,937 (GRCm38) |
A67V |
probably benign |
Het |
| Dst |
C |
T |
1: 34,179,357 (GRCm38) |
T1626I |
probably damaging |
Het |
| Etfdh |
A |
C |
3: 79,615,954 (GRCm38) |
D217E |
probably null |
Het |
| Far1 |
T |
A |
7: 113,568,189 (GRCm38) |
Y494N |
probably damaging |
Het |
| Fndc1 |
G |
A |
17: 7,771,534 (GRCm38) |
T1110M |
unknown |
Het |
| Frmd4a |
G |
T |
2: 4,484,065 (GRCm38) |
D78Y |
probably damaging |
Het |
| Fsip2 |
G |
A |
2: 82,977,916 (GRCm38) |
M1526I |
probably benign |
Het |
| Ggn |
C |
T |
7: 29,172,352 (GRCm38) |
P399S |
probably damaging |
Het |
| Hap1 |
A |
G |
11: 100,355,774 (GRCm38) |
W102R |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 56,197,190 (GRCm38) |
S3629R |
possibly damaging |
Het |
| Hist1h2ac |
C |
T |
13: 23,683,905 (GRCm38) |
G5S |
probably damaging |
Het |
| Hyal4 |
A |
C |
6: 24,765,862 (GRCm38) |
Y405S |
possibly damaging |
Het |
| Ifi204 |
G |
A |
1: 173,752,759 (GRCm38) |
T395I |
probably damaging |
Het |
| Igsf9 |
A |
G |
1: 172,498,438 (GRCm38) |
E1147G |
probably damaging |
Het |
| Inpp5a |
T |
A |
7: 139,538,181 (GRCm38) |
I225N |
possibly damaging |
Het |
| Kcnv1 |
T |
C |
15: 45,109,122 (GRCm38) |
K455R |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,310,457 (GRCm38) |
D2796G |
probably benign |
Het |
| Ngp |
A |
T |
9: 110,422,333 (GRCm38) |
D143V |
probably benign |
Het |
| Nlrp5 |
T |
C |
7: 23,418,839 (GRCm38) |
C663R |
possibly damaging |
Het |
| Nup205 |
G |
T |
6: 35,227,680 (GRCm38) |
R1469L |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,230,548 (GRCm38) |
F1512I |
probably damaging |
Het |
| Nwd1 |
T |
C |
8: 72,670,914 (GRCm38) |
S594P |
probably damaging |
Het |
| Nxpe2 |
A |
C |
9: 48,319,575 (GRCm38) |
V498G |
probably benign |
Het |
| P3h4 |
G |
A |
11: 100,411,851 (GRCm38) |
R320C |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,179,255 (GRCm38) |
L2273P |
probably damaging |
Het |
| Ppp1r14b |
C |
T |
19: 6,976,583 (GRCm38) |
L100F |
probably damaging |
Het |
| Prlhr |
C |
T |
19: 60,467,068 (GRCm38) |
W353* |
probably null |
Het |
| Ralgps2 |
C |
T |
1: 156,832,664 (GRCm38) |
|
probably null |
Het |
| Rrp12 |
C |
T |
19: 41,880,152 (GRCm38) |
G584D |
possibly damaging |
Het |
| Scamp3 |
T |
C |
3: 89,181,197 (GRCm38) |
F237L |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,635,441 (GRCm38) |
|
probably null |
Het |
| Sh3bp5 |
C |
A |
14: 31,377,495 (GRCm38) |
R265L |
probably benign |
Het |
| Shroom1 |
A |
T |
11: 53,463,991 (GRCm38) |
D246V |
probably benign |
Het |
| Snapc4 |
T |
A |
2: 26,378,606 (GRCm38) |
E14D |
probably damaging |
Het |
| Spag5 |
A |
T |
11: 78,304,146 (GRCm38) |
Q93L |
probably benign |
Het |
| Tle1 |
C |
T |
4: 72,120,135 (GRCm38) |
|
probably null |
Het |
| Ttll10 |
G |
A |
4: 156,034,981 (GRCm38) |
P683S |
possibly damaging |
Het |
| Unc13c |
A |
C |
9: 73,812,367 (GRCm38) |
D1006E |
probably benign |
Het |
| Unc80 |
A |
T |
1: 66,693,796 (GRCm38) |
K3101N |
possibly damaging |
Het |
| Vdac1 |
A |
G |
11: 52,387,453 (GRCm38) |
Y247C |
possibly damaging |
Het |
| Vmn2r1 |
G |
A |
3: 64,090,053 (GRCm38) |
V377I |
probably benign |
Het |
| Vmn2r23 |
A |
G |
6: 123,733,393 (GRCm38) |
T552A |
probably damaging |
Het |
| Xrcc3 |
C |
T |
12: 111,804,610 (GRCm38) |
R295Q |
probably damaging |
Het |
| Zfp780b |
T |
C |
7: 27,964,818 (GRCm38) |
N104S |
probably benign |
Het |
| Zkscan17 |
A |
G |
11: 59,487,571 (GRCm38) |
V262A |
possibly damaging |
Het |
|
| Other mutations in Atp4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00339:Atp4a
|
APN |
7 |
30,713,204 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01327:Atp4a
|
APN |
7 |
30,713,250 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
IGL01510:Atp4a
|
APN |
7 |
30,720,791 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL01763:Atp4a
|
APN |
7 |
30,715,518 (GRCm38) |
missense |
probably benign |
0.20 |
|
IGL02061:Atp4a
|
APN |
7 |
30,715,029 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02435:Atp4a
|
APN |
7 |
30,717,057 (GRCm38) |
missense |
probably benign |
|
|
IGL02903:Atp4a
|
APN |
7 |
30,715,919 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03181:Atp4a
|
APN |
7 |
30,724,704 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL03350:Atp4a
|
APN |
7 |
30,720,867 (GRCm38) |
missense |
probably damaging |
1.00 |
|
atypical
|
UTSW |
7 |
30,715,356 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
sublytic
|
UTSW |
7 |
30,715,800 (GRCm38) |
missense |
probably benign |
0.32 |
|
IGL03097:Atp4a
|
UTSW |
7 |
30,723,037 (GRCm38) |
missense |
probably benign |
0.14 |
|
R0095:Atp4a
|
UTSW |
7 |
30,720,735 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0121:Atp4a
|
UTSW |
7 |
30,720,101 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0140:Atp4a
|
UTSW |
7 |
30,720,101 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0241:Atp4a
|
UTSW |
7 |
30,717,135 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0437:Atp4a
|
UTSW |
7 |
30,720,101 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0624:Atp4a
|
UTSW |
7 |
30,718,999 (GRCm38) |
missense |
probably benign |
|
|
R1164:Atp4a
|
UTSW |
7 |
30,717,692 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2105:Atp4a
|
UTSW |
7 |
30,720,368 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2272:Atp4a
|
UTSW |
7 |
30,715,500 (GRCm38) |
nonsense |
probably null |
|
|
R2327:Atp4a
|
UTSW |
7 |
30,720,241 (GRCm38) |
missense |
probably benign |
0.16 |
|
R2881:Atp4a
|
UTSW |
7 |
30,720,225 (GRCm38) |
missense |
probably benign |
0.16 |
|
R2990:Atp4a
|
UTSW |
7 |
30,720,225 (GRCm38) |
missense |
probably benign |
0.16 |
|
R2992:Atp4a
|
UTSW |
7 |
30,720,225 (GRCm38) |
missense |
probably benign |
0.16 |
|
R2993:Atp4a
|
UTSW |
7 |
30,720,225 (GRCm38) |
missense |
probably benign |
0.16 |
|
R3123:Atp4a
|
UTSW |
7 |
30,720,225 (GRCm38) |
missense |
probably benign |
0.16 |
|
R3125:Atp4a
|
UTSW |
7 |
30,720,225 (GRCm38) |
missense |
probably benign |
0.16 |
|
R3441:Atp4a
|
UTSW |
7 |
30,720,225 (GRCm38) |
missense |
probably benign |
0.16 |
|
R3442:Atp4a
|
UTSW |
7 |
30,720,225 (GRCm38) |
missense |
probably benign |
0.16 |
|
R3686:Atp4a
|
UTSW |
7 |
30,720,225 (GRCm38) |
missense |
probably benign |
0.16 |
|
R3687:Atp4a
|
UTSW |
7 |
30,720,225 (GRCm38) |
missense |
probably benign |
0.16 |
|
R3845:Atp4a
|
UTSW |
7 |
30,717,115 (GRCm38) |
missense |
probably null |
0.99 |
|
R4027:Atp4a
|
UTSW |
7 |
30,724,952 (GRCm38) |
splice site |
probably null |
|
|
R4072:Atp4a
|
UTSW |
7 |
30,715,332 (GRCm38) |
missense |
probably benign |
0.09 |
|
R4433:Atp4a
|
UTSW |
7 |
30,720,225 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4454:Atp4a
|
UTSW |
7 |
30,720,225 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4457:Atp4a
|
UTSW |
7 |
30,720,225 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4458:Atp4a
|
UTSW |
7 |
30,720,225 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4510:Atp4a
|
UTSW |
7 |
30,724,253 (GRCm38) |
nonsense |
probably null |
|
|
R4511:Atp4a
|
UTSW |
7 |
30,724,253 (GRCm38) |
nonsense |
probably null |
|
|
R4576:Atp4a
|
UTSW |
7 |
30,717,722 (GRCm38) |
missense |
probably benign |
0.25 |
|
R4656:Atp4a
|
UTSW |
7 |
30,719,948 (GRCm38) |
intron |
probably benign |
|
|
R4661:Atp4a
|
UTSW |
7 |
30,720,225 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4662:Atp4a
|
UTSW |
7 |
30,720,225 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4852:Atp4a
|
UTSW |
7 |
30,724,268 (GRCm38) |
missense |
probably benign |
0.10 |
|
R4892:Atp4a
|
UTSW |
7 |
30,712,474 (GRCm38) |
missense |
probably benign |
0.07 |
|
R4907:Atp4a
|
UTSW |
7 |
30,719,092 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R5024:Atp4a
|
UTSW |
7 |
30,715,864 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5254:Atp4a
|
UTSW |
7 |
30,715,530 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5318:Atp4a
|
UTSW |
7 |
30,715,329 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5340:Atp4a
|
UTSW |
7 |
30,720,806 (GRCm38) |
missense |
probably benign |
|
|
R5484:Atp4a
|
UTSW |
7 |
30,720,672 (GRCm38) |
unclassified |
probably benign |
|
|
R5729:Atp4a
|
UTSW |
7 |
30,712,426 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R5797:Atp4a
|
UTSW |
7 |
30,712,649 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6030:Atp4a
|
UTSW |
7 |
30,722,516 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6030:Atp4a
|
UTSW |
7 |
30,722,516 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6077:Atp4a
|
UTSW |
7 |
30,715,919 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6243:Atp4a
|
UTSW |
7 |
30,715,957 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R6346:Atp4a
|
UTSW |
7 |
30,715,356 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R6459:Atp4a
|
UTSW |
7 |
30,712,462 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6515:Atp4a
|
UTSW |
7 |
30,712,478 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R6773:Atp4a
|
UTSW |
7 |
30,715,377 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6854:Atp4a
|
UTSW |
7 |
30,715,008 (GRCm38) |
missense |
probably benign |
0.29 |
|
R7215:Atp4a
|
UTSW |
7 |
30,717,360 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R7271:Atp4a
|
UTSW |
7 |
30,722,519 (GRCm38) |
missense |
probably benign |
0.16 |
|
R7340:Atp4a
|
UTSW |
7 |
30,716,730 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7457:Atp4a
|
UTSW |
7 |
30,720,767 (GRCm38) |
missense |
probably benign |
0.08 |
|
R7593:Atp4a
|
UTSW |
7 |
30,724,680 (GRCm38) |
missense |
probably benign |
0.08 |
|
R7712:Atp4a
|
UTSW |
7 |
30,715,553 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7762:Atp4a
|
UTSW |
7 |
30,720,036 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8714:Atp4a
|
UTSW |
7 |
30,720,588 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9324:Atp4a
|
UTSW |
7 |
30,715,782 (GRCm38) |
missense |
probably benign |
0.02 |
|
Z1177:Atp4a
|
UTSW |
7 |
30,717,840 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
Z1186:Atp4a
|
UTSW |
7 |
30,717,357 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGATTCAAGATCTGGCATCC -3'
(R):5'- CAAACAGCTTAGCCGGGAAG -3'
Sequencing Primer
(F):5'- GGCATCCAGGGACCTGATTATTTC -3'
(R):5'- TTAGCCGGGAAGCATCCTTC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation