Incidental Mutation 'R1164:Atp4a'
ID 100822
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 039237-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R1164 (G1)
Quality Score 199
Status Not validated
Chromosome 7
Chromosomal Location 30411634-30424959 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30417117 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 500 (L500Q)
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: L500Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000005692
Gene: ENSMUSG00000005553
AA Change: L500Q

DomainStartEndE-ValueType
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: L500Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000131964
Gene: ENSMUSG00000005553
AA Change: L500Q

DomainStartEndE-ValueType
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: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.8%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,621,305 (GRCm39) M1055K probably damaging Het
Adprh A T 16: 38,270,702 (GRCm39) D34E probably benign Het
Aldh1a1 A T 19: 20,595,310 (GRCm39) M80L probably benign Het
Arap2 T A 5: 62,840,820 (GRCm39) D682V probably damaging Het
Atp6v1c2 T C 12: 17,358,317 (GRCm39) E10G probably damaging Het
B4galt2 G A 4: 117,734,141 (GRCm39) R299W possibly damaging Het
Bltp3a T C 17: 28,114,354 (GRCm39) probably null Het
Brinp1 A C 4: 68,716,928 (GRCm39) S307A probably benign Het
Cacna2d1 G A 5: 16,566,874 (GRCm39) probably null Het
Ccdc3 T C 2: 5,146,077 (GRCm39) V137A possibly damaging Het
Ccnb1ip1 T C 14: 51,029,594 (GRCm39) K156R possibly damaging Het
Cfap77 A T 2: 28,852,700 (GRCm39) W191R probably damaging Het
Chga A G 12: 102,529,304 (GRCm39) E427G probably damaging Het
Chrnd A T 1: 87,120,267 (GRCm39) Y32F probably benign Het
Cks1b C A 3: 89,323,249 (GRCm39) probably benign Het
Creld2 G A 15: 88,704,834 (GRCm39) W103* probably null Het
Dip2a C A 10: 76,112,231 (GRCm39) R1098L possibly damaging Het
Dmbx1 T A 4: 115,775,455 (GRCm39) H275L probably damaging Het
Dmrt2 A G 19: 25,655,357 (GRCm39) M319V possibly damaging Het
Dock8 A G 19: 25,067,391 (GRCm39) Y345C probably benign Het
Dpp6 A G 5: 27,926,103 (GRCm39) T668A probably benign Het
Eef1d A G 15: 75,774,526 (GRCm39) probably null Het
Epb41l3 A G 17: 69,581,762 (GRCm39) T568A possibly damaging Het
Erc2 A G 14: 28,024,929 (GRCm39) R603G probably damaging Het
Fam83d T C 2: 158,625,170 (GRCm39) S254P probably damaging Het
Fcgr4 A T 1: 170,856,739 (GRCm39) H202L possibly damaging Het
Gm4922 C T 10: 18,659,469 (GRCm39) A418T possibly damaging Het
Kmo A G 1: 175,486,125 (GRCm39) H416R probably benign Het
Lao1 A G 4: 118,822,602 (GRCm39) N174S probably benign Het
Lrwd1 A T 5: 136,159,844 (GRCm39) H406Q probably benign Het
Magoh A G 4: 107,744,459 (GRCm39) I143V probably benign Het
Mpz A G 1: 170,986,008 (GRCm39) H49R possibly damaging Het
Nav1 T C 1: 135,400,148 (GRCm39) N474S probably benign Het
Ndufb10 T G 17: 24,941,757 (GRCm39) E68D probably benign Het
Obscn T C 11: 58,926,913 (GRCm39) D5534G possibly damaging Het
Or13c7d T C 4: 43,770,991 (GRCm39) T7A probably benign Het
Or14j5 T A 17: 38,161,575 (GRCm39) F31I probably damaging Het
Or1j16 A T 2: 36,530,132 (GRCm39) Y27F probably benign Het
Or4d10 A T 19: 12,051,605 (GRCm39) Y130* probably null Het
Or52l1 A T 7: 104,830,040 (GRCm39) F160Y probably benign Het
Or8k30 C A 2: 86,339,028 (GRCm39) T75K probably damaging Het
Padi1 A T 4: 140,559,640 (GRCm39) V79E possibly damaging Het
Pdha2 A G 3: 140,917,260 (GRCm39) Y83H probably damaging Het
Phpt1 A G 2: 25,464,727 (GRCm39) I42T probably damaging Het
Pot1b A C 17: 55,981,085 (GRCm39) S310A probably benign Het
Ptpn13 G A 5: 103,637,639 (GRCm39) V176I probably damaging Het
Ptprf A G 4: 118,114,689 (GRCm39) S189P probably damaging Het
Rere A T 4: 150,619,341 (GRCm39) Q381L unknown Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Scn8a G A 15: 100,938,043 (GRCm39) C1804Y probably benign Het
Sema3c G A 5: 17,883,312 (GRCm39) D307N probably benign Het
Siah2 T C 3: 58,583,737 (GRCm39) E183G probably benign Het
Smarca5 G A 8: 81,437,260 (GRCm39) L699F probably damaging Het
Smo T A 6: 29,754,718 (GRCm39) S263T probably benign Het
Sox2 A G 3: 34,704,848 (GRCm39) E95G probably damaging Het
T T C 17: 8,658,771 (GRCm39) S171P probably benign Het
Tmc7 G T 7: 118,141,247 (GRCm39) A628D probably benign Het
Tmem45a2 A G 16: 56,869,789 (GRCm39) S52P probably damaging Het
Tubb3 C T 8: 124,148,186 (GRCm39) A373V probably damaging Het
Upp2 A G 2: 58,653,716 (GRCm39) Y69C probably damaging Het
Utp4 A G 8: 107,627,476 (GRCm39) probably null Het
Vmn1r59 T A 7: 5,457,410 (GRCm39) M117L probably benign Het
Xkr8 T C 4: 132,459,722 (GRCm39) S19G probably benign Het
Zbed6 G A 1: 133,586,941 (GRCm39) T132I probably damaging Het
Zbtb24 T C 10: 41,340,523 (GRCm39) Y518H probably damaging Het
Zfp324 T C 7: 12,705,551 (GRCm39) I580T probably benign Het
Zfp995 G A 17: 22,098,960 (GRCm39) H425Y probably damaging Het
Other mutations in Atp4a
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Posted On 2014-01-15