Incidental Mutation 'R2992:Atp4a'
| ID |
257935 |
| 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: 0.098)
|
| Stock # |
R2992 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
30712209-30725534 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 30720225 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 671
(R671Q)
|
| 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: R671Q
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000005692
Gene: ENSMUSG00000005553
AA Change: R671Q
| 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: R671Q
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000131964
Gene: ENSMUSG00000005553
AA Change: R671Q
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 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: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Baat |
A |
T |
4: 49,499,675 |
Y210* |
probably null |
Het |
| Cdh15 |
G |
A |
8: 122,862,024 |
R279Q |
probably damaging |
Het |
| Cep295 |
T |
A |
9: 15,332,747 |
K1471I |
probably damaging |
Het |
| Cpne4 |
A |
T |
9: 105,022,365 |
I416F |
probably damaging |
Het |
| Cul7 |
C |
G |
17: 46,651,600 |
D52E |
probably benign |
Het |
| Isg20 |
C |
T |
7: 78,919,884 |
A201V |
probably benign |
Het |
| Kdm6b |
ACTGCTGCTGCTGCTGCTGCTGCTG |
ACTGCTGCTGCTGCTGCTGCTG |
11: 69,406,307 |
|
probably benign |
Het |
| Mmp16 |
G |
T |
4: 18,011,657 |
G191C |
probably damaging |
Het |
| Olfr1158 |
T |
C |
2: 87,990,777 |
V222A |
probably benign |
Het |
| Olfr611 |
C |
T |
7: 103,517,770 |
V205M |
probably damaging |
Het |
| Olfr769 |
C |
A |
10: 129,111,535 |
E297* |
probably null |
Het |
| Patl2 |
T |
C |
2: 122,125,754 |
S210G |
probably damaging |
Het |
| Plekha6 |
T |
C |
1: 133,294,658 |
I994T |
probably damaging |
Het |
| Rap1gap2 |
C |
A |
11: 74,407,322 |
A491S |
possibly damaging |
Het |
| Rhobtb2 |
A |
G |
14: 69,798,323 |
S100P |
probably damaging |
Het |
| Snx13 |
T |
C |
12: 35,105,191 |
L418P |
probably damaging |
Het |
| Spink5 |
A |
C |
18: 43,996,629 |
E429A |
probably damaging |
Het |
|
| Other mutations in Atp4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00339:Atp4a
|
APN |
7 |
30713204 |
missense |
possibly damaging |
0.95 |
|
IGL01327:Atp4a
|
APN |
7 |
30713250 |
missense |
possibly damaging |
0.96 |
|
IGL01510:Atp4a
|
APN |
7 |
30720791 |
missense |
probably benign |
0.02 |
|
IGL01763:Atp4a
|
APN |
7 |
30715518 |
missense |
probably benign |
0.20 |
|
IGL02061:Atp4a
|
APN |
7 |
30715029 |
missense |
probably damaging |
1.00 |
|
IGL02435:Atp4a
|
APN |
7 |
30717057 |
missense |
probably benign |
|
|
IGL02903:Atp4a
|
APN |
7 |
30715919 |
missense |
probably benign |
0.00 |
|
IGL03181:Atp4a
|
APN |
7 |
30724704 |
missense |
probably benign |
0.02 |
|
IGL03350:Atp4a
|
APN |
7 |
30720867 |
missense |
probably damaging |
1.00 |
|
atypical
|
UTSW |
7 |
30715356 |
missense |
possibly damaging |
0.84 |
|
sublytic
|
UTSW |
7 |
30715800 |
missense |
probably benign |
0.32 |
|
IGL03097:Atp4a
|
UTSW |
7 |
30723037 |
missense |
probably benign |
0.14 |
|
R0095:Atp4a
|
UTSW |
7 |
30720735 |
missense |
probably damaging |
0.99 |
|
R0121:Atp4a
|
UTSW |
7 |
30720101 |
missense |
probably benign |
0.00 |
|
R0140:Atp4a
|
UTSW |
7 |
30720101 |
missense |
probably benign |
0.00 |
|
R0241:Atp4a
|
UTSW |
7 |
30717135 |
missense |
probably benign |
0.00 |
|
R0437:Atp4a
|
UTSW |
7 |
30720101 |
missense |
probably benign |
0.00 |
|
R0624:Atp4a
|
UTSW |
7 |
30718999 |
missense |
probably benign |
|
|
R1164:Atp4a
|
UTSW |
7 |
30717692 |
missense |
probably benign |
0.00 |
|
R2105:Atp4a
|
UTSW |
7 |
30720368 |
critical splice donor site |
probably null |
|
|
R2272:Atp4a
|
UTSW |
7 |
30715500 |
nonsense |
probably null |
|
|
R2327:Atp4a
|
UTSW |
7 |
30720241 |
missense |
probably benign |
0.16 |
|
R2881:Atp4a
|
UTSW |
7 |
30720225 |
missense |
probably benign |
0.16 |
|
R2990:Atp4a
|
UTSW |
7 |
30720225 |
missense |
probably benign |
0.16 |
|
R2993:Atp4a
|
UTSW |
7 |
30720225 |
missense |
probably benign |
0.16 |
|
R3123:Atp4a
|
UTSW |
7 |
30720225 |
missense |
probably benign |
0.16 |
|
R3125:Atp4a
|
UTSW |
7 |
30720225 |
missense |
probably benign |
0.16 |
|
R3441:Atp4a
|
UTSW |
7 |
30720225 |
missense |
probably benign |
0.16 |
|
R3442:Atp4a
|
UTSW |
7 |
30720225 |
missense |
probably benign |
0.16 |
|
R3686:Atp4a
|
UTSW |
7 |
30720225 |
missense |
probably benign |
0.16 |
|
R3687:Atp4a
|
UTSW |
7 |
30720225 |
missense |
probably benign |
0.16 |
|
R3845:Atp4a
|
UTSW |
7 |
30717115 |
missense |
probably null |
0.99 |
|
R4027:Atp4a
|
UTSW |
7 |
30724952 |
splice site |
probably null |
|
|
R4072:Atp4a
|
UTSW |
7 |
30715332 |
missense |
probably benign |
0.09 |
|
R4433:Atp4a
|
UTSW |
7 |
30720225 |
missense |
probably benign |
0.16 |
|
R4454:Atp4a
|
UTSW |
7 |
30720225 |
missense |
probably benign |
0.16 |
|
R4457:Atp4a
|
UTSW |
7 |
30720225 |
missense |
probably benign |
0.16 |
|
R4458:Atp4a
|
UTSW |
7 |
30720225 |
missense |
probably benign |
0.16 |
|
R4510:Atp4a
|
UTSW |
7 |
30724253 |
nonsense |
probably null |
|
|
R4511:Atp4a
|
UTSW |
7 |
30724253 |
nonsense |
probably null |
|
|
R4576:Atp4a
|
UTSW |
7 |
30717722 |
missense |
probably benign |
0.25 |
|
R4656:Atp4a
|
UTSW |
7 |
30719948 |
intron |
probably benign |
|
|
R4661:Atp4a
|
UTSW |
7 |
30720225 |
missense |
probably benign |
0.16 |
|
R4662:Atp4a
|
UTSW |
7 |
30720225 |
missense |
probably benign |
0.16 |
|
R4852:Atp4a
|
UTSW |
7 |
30724268 |
missense |
probably benign |
0.10 |
|
R4892:Atp4a
|
UTSW |
7 |
30712474 |
missense |
probably benign |
0.07 |
|
R4907:Atp4a
|
UTSW |
7 |
30719092 |
missense |
possibly damaging |
0.66 |
|
R5024:Atp4a
|
UTSW |
7 |
30715864 |
missense |
possibly damaging |
0.82 |
|
R5254:Atp4a
|
UTSW |
7 |
30715530 |
missense |
probably damaging |
1.00 |
|
R5318:Atp4a
|
UTSW |
7 |
30715329 |
missense |
probably damaging |
1.00 |
|
R5340:Atp4a
|
UTSW |
7 |
30720806 |
missense |
probably benign |
|
|
R5484:Atp4a
|
UTSW |
7 |
30720672 |
unclassified |
probably benign |
|
|
R5729:Atp4a
|
UTSW |
7 |
30712426 |
missense |
possibly damaging |
0.48 |
|
R5762:Atp4a
|
UTSW |
7 |
30719096 |
missense |
probably damaging |
0.99 |
|
R5797:Atp4a
|
UTSW |
7 |
30712649 |
missense |
probably damaging |
1.00 |
|
R6030:Atp4a
|
UTSW |
7 |
30722516 |
missense |
probably damaging |
0.99 |
|
R6030:Atp4a
|
UTSW |
7 |
30722516 |
missense |
probably damaging |
0.99 |
|
R6077:Atp4a
|
UTSW |
7 |
30715919 |
missense |
probably benign |
0.00 |
|
R6243:Atp4a
|
UTSW |
7 |
30715957 |
missense |
possibly damaging |
0.68 |
|
R6346:Atp4a
|
UTSW |
7 |
30715356 |
missense |
possibly damaging |
0.84 |
|
R6459:Atp4a
|
UTSW |
7 |
30712462 |
missense |
probably benign |
0.00 |
|
R6515:Atp4a
|
UTSW |
7 |
30712478 |
missense |
possibly damaging |
0.78 |
|
R6773:Atp4a
|
UTSW |
7 |
30715377 |
missense |
probably damaging |
0.98 |
|
R6854:Atp4a
|
UTSW |
7 |
30715008 |
missense |
probably benign |
0.29 |
|
R7215:Atp4a
|
UTSW |
7 |
30717360 |
missense |
possibly damaging |
0.61 |
|
R7271:Atp4a
|
UTSW |
7 |
30722519 |
missense |
probably benign |
0.16 |
|
R7340:Atp4a
|
UTSW |
7 |
30716730 |
missense |
possibly damaging |
0.94 |
|
R7457:Atp4a
|
UTSW |
7 |
30720767 |
missense |
probably benign |
0.08 |
|
R7593:Atp4a
|
UTSW |
7 |
30724680 |
missense |
probably benign |
0.08 |
|
R7712:Atp4a
|
UTSW |
7 |
30715553 |
missense |
probably damaging |
0.96 |
|
R7762:Atp4a
|
UTSW |
7 |
30720036 |
missense |
probably damaging |
0.96 |
|
R8714:Atp4a
|
UTSW |
7 |
30720588 |
missense |
probably damaging |
0.99 |
|
R9324:Atp4a
|
UTSW |
7 |
30715782 |
missense |
probably benign |
0.02 |
|
Z1177:Atp4a
|
UTSW |
7 |
30717840 |
missense |
possibly damaging |
0.47 |
|
Z1186:Atp4a
|
UTSW |
7 |
30717357 |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCGTGGGTATCATCTCAGAG -3'
(R):5'- TCCATGGTTAGAAAGACAGCC -3'
Sequencing Primer
(F):5'- TATCATCTCAGAGGGCAGCG -3'
(R):5'- GACAGCCCAGCCCATCTG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation