Incidental Mutation 'R4400:Atp4b'
ID 326590
Institutional Source Beutler Lab
Gene Symbol Atp4b
Ensembl Gene ENSMUSG00000031449
Gene Name ATPase, H+/K+ exchanging, beta polypeptide
Synonyms H+,K+-ATPase, H,K-ATPase-Beta, H+/K+-ATPase beta
MMRRC Submission 041131-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4400 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 13386205-13396825 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13388810 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 189 (F189L)
Ref Sequence ENSEMBL: ENSMUSP00000033826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033826]
AlphaFold P50992
Predicted Effect probably damaging
Transcript: ENSMUST00000033826
AA Change: F189L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033826
Gene: ENSMUSG00000031449
AA Change: F189L

Pfam:Na_K-ATPase 7 288 5.7e-108 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210491
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211331
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.3%
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 the beta subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are superficially normal but have hypertrophied stomach mucosa, neutral luminal pH in the stomach, and hypergastrinemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a1 A T 5: 67,764,878 (GRCm38) Y372N probably benign Het
Bves T C 10: 45,369,293 (GRCm38) V354A probably benign Het
Cd79b A T 11: 106,312,010 (GRCm38) Y195* probably null Het
Cog6 A C 3: 53,012,941 (GRCm38) D131E probably benign Het
Elp3 C T 14: 65,548,090 (GRCm38) E421K possibly damaging Het
Fbxw28 A T 9: 109,328,310 (GRCm38) F237Y probably damaging Het
Fezf1 T C 6: 23,247,710 (GRCm38) N122S probably benign Het
Galnt2 A G 8: 124,324,303 (GRCm38) K157E probably damaging Het
Git2 T C 5: 114,733,909 (GRCm38) E141G possibly damaging Het
Gm26888 T C 11: 119,154,027 (GRCm38) silent Het
Gnrhr T C 5: 86,182,249 (GRCm38) probably null Het
Hoxd13 A T 2: 74,670,015 (GRCm38) D300V probably damaging Het
Hspg2 G A 4: 137,548,122 (GRCm38) A2748T probably benign Het
Hyal2 A G 9: 107,570,853 (GRCm38) N235S probably damaging Het
Itgam T G 7: 128,081,658 (GRCm38) L253R probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 52,725,906 (GRCm38) 74 probably benign Het
Matr3 A T 18: 35,583,916 (GRCm38) K591N possibly damaging Het
Mep1a T A 17: 43,475,006 (GRCm38) I731F possibly damaging Het
Mkl1 G A 15: 81,020,923 (GRCm38) Q103* probably null Het
Muc5b A G 7: 141,861,387 (GRCm38) D2690G possibly damaging Het
Nlrc5 A G 8: 94,494,353 (GRCm38) Q1140R probably benign Het
Olfr205 C T 16: 59,328,598 (GRCm38) V304I probably benign Het
Olfr292 A G 7: 86,694,590 (GRCm38) I45V probably benign Het
Olfr711 A G 7: 106,972,002 (GRCm38) L114P probably damaging Het
Plcl1 T C 1: 55,715,577 (GRCm38) F1028L probably damaging Het
Plpp2 A G 10: 79,527,493 (GRCm38) V106A possibly damaging Het
Prpf8 A G 11: 75,490,702 (GRCm38) T255A possibly damaging Het
Shoc2 A G 19: 54,031,229 (GRCm38) I568V probably benign Het
Spopl C T 2: 23,517,945 (GRCm38) V241M probably damaging Het
Ssrp1 A T 2: 85,037,941 (GRCm38) D9V probably damaging Het
Strn3 A T 12: 51,648,100 (GRCm38) D293E possibly damaging Het
Tbx3 G T 5: 119,680,571 (GRCm38) D404Y probably damaging Het
Tdrd7 T C 4: 46,005,540 (GRCm38) S416P possibly damaging Het
Trim60 G T 8: 65,001,212 (GRCm38) Y128* probably null Het
Tspoap1 T C 11: 87,775,603 (GRCm38) S947P probably damaging Het
Ttn A T 2: 76,782,395 (GRCm38) S17113R probably damaging Het
Ubqln1 T A 13: 58,193,388 (GRCm38) N183I probably damaging Het
Ubr4 A G 4: 139,461,856 (GRCm38) N3917D possibly damaging Het
Ucp2 A G 7: 100,499,350 (GRCm38) *310W probably null Het
Wdr76 A G 2: 121,528,833 (GRCm38) M218V probably damaging Het
Zranb3 A C 1: 127,956,655 (GRCm38) L998R possibly damaging Het
Zxdc G A 6: 90,369,810 (GRCm38) G51E probably damaging Het
Other mutations in Atp4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Atp4b APN 8 13,389,679 (GRCm38) missense probably damaging 1.00
IGL02596:Atp4b APN 8 13,393,471 (GRCm38) missense possibly damaging 0.87
R0558:Atp4b UTSW 8 13,393,523 (GRCm38) missense possibly damaging 0.62
R0829:Atp4b UTSW 8 13,390,098 (GRCm38) missense probably damaging 1.00
R0963:Atp4b UTSW 8 13,390,014 (GRCm38) missense probably benign 0.00
R1528:Atp4b UTSW 8 13,389,693 (GRCm38) missense possibly damaging 0.78
R1605:Atp4b UTSW 8 13,393,489 (GRCm38) missense probably damaging 1.00
R2022:Atp4b UTSW 8 13,387,477 (GRCm38) missense possibly damaging 0.88
R3824:Atp4b UTSW 8 13,393,549 (GRCm38) missense probably damaging 1.00
R3825:Atp4b UTSW 8 13,393,549 (GRCm38) missense probably damaging 1.00
R4108:Atp4b UTSW 8 13,396,640 (GRCm38) critical splice donor site probably null
R4606:Atp4b UTSW 8 13,389,998 (GRCm38) missense probably damaging 1.00
R4681:Atp4b UTSW 8 13,389,700 (GRCm38) missense probably benign 0.01
R6056:Atp4b UTSW 8 13,388,782 (GRCm38) missense probably damaging 1.00
R7485:Atp4b UTSW 8 13,386,732 (GRCm38) missense probably benign
R7888:Atp4b UTSW 8 13,389,811 (GRCm38) missense probably damaging 0.98
R8743:Atp4b UTSW 8 13,393,489 (GRCm38) missense probably damaging 1.00
R8896:Atp4b UTSW 8 13,387,514 (GRCm38) missense probably benign 0.00
R9523:Atp4b UTSW 8 13,386,746 (GRCm38) missense probably damaging 0.99
R9742:Atp4b UTSW 8 13,390,097 (GRCm38) missense probably damaging 1.00
Z1177:Atp4b UTSW 8 13,396,684 (GRCm38) small deletion probably benign
Z1177:Atp4b UTSW 8 13,389,794 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-07-07