Incidental Mutation 'R4606:Atp4b'
ID 346020
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 041817-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4606 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 13386205-13396825 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13389998 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 116 (F116S)
Ref Sequence ENSEMBL: ENSMUSP00000033826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033826]
AlphaFold P50992
Predicted Effect probably damaging
Transcript: ENSMUST00000033826
AA Change: F116S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033826
Gene: ENSMUSG00000031449
AA Change: F116S

DomainStartEndE-ValueType
Pfam:Na_K-ATPase 7 288 5.7e-108 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210491
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211331
Meta Mutation Damage Score 0.9074 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 96% (69/72)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik A T 8: 79,210,745 W178R probably benign Het
Abcb5 T C 12: 118,932,610 probably null Het
Akr1b3 C A 6: 34,306,664 probably benign Het
Arid1a A G 4: 133,687,323 F1199S unknown Het
Atp6v1b1 T C 6: 83,752,461 S127P probably damaging Het
Blk C T 14: 63,374,203 V428I probably benign Het
C87414 A T 5: 93,636,602 D137E probably damaging Het
Ccser1 T C 6: 61,311,584 S244P probably damaging Het
Ceacam1 T A 7: 25,474,526 I235F probably damaging Het
Cyp2g1 T A 7: 26,814,154 Y173N possibly damaging Het
Ddr2 T A 1: 170,001,852 I278F probably benign Het
Degs1 T C 1: 182,276,823 D299G probably damaging Het
Dip2b G A 15: 100,215,329 V1542I possibly damaging Het
Dmxl1 T A 18: 49,962,181 S2942R probably damaging Het
Dpf1 T A 7: 29,316,590 probably benign Het
Ephb6 A G 6: 41,616,574 Y518C probably benign Het
Eps15l1 A T 8: 72,373,916 F606I possibly damaging Het
Extl1 A G 4: 134,371,379 S114P probably damaging Het
Extl1 A C 4: 134,371,380 D113E probably benign Het
Fat1 T C 8: 44,950,683 V157A possibly damaging Het
Fcho1 A T 8: 71,712,480 D444E probably benign Het
Fgd3 T A 13: 49,296,560 D71V probably damaging Het
Fgd5 T A 6: 91,988,209 D316E possibly damaging Het
Gys2 A T 6: 142,454,484 F334I possibly damaging Het
Ik G T 18: 36,753,555 R360L possibly damaging Het
Kazn A C 4: 142,118,288 probably null Het
Kmt2d A T 15: 98,839,716 probably benign Het
Krr1 T C 10: 111,975,677 probably benign Het
Krt83 C T 15: 101,487,049 E389K probably benign Het
Lrrc4c T C 2: 97,630,313 V428A probably benign Het
Lvrn C A 18: 46,864,765 T260K possibly damaging Het
Mcc C T 18: 44,468,421 E614K probably damaging Het
Msrb3 A T 10: 120,849,997 V81D probably damaging Het
Muc19 C T 15: 91,934,383 noncoding transcript Het
Myadm T A 7: 3,297,400 L226* probably null Het
Myof C T 19: 37,967,099 V526M probably damaging Het
Nckap5l A G 15: 99,429,323 probably benign Het
Olfr1010 T A 2: 85,753,940 probably benign Het
Olfr1260 C A 2: 89,978,006 A76D possibly damaging Het
Olfr1270 G T 2: 90,148,816 probably benign Het
Olfr398 A G 11: 73,983,892 S239P probably damaging Het
Pars2 T C 4: 106,654,050 V307A probably benign Het
Pcdhb1 T G 18: 37,265,528 Y177* probably null Het
Pcdhb4 T A 18: 37,308,652 D338E probably damaging Het
Pik3r2 G A 8: 70,772,136 R199* probably null Het
Pla2g4f C T 2: 120,313,986 R24Q probably benign Het
Pnma2 T C 14: 66,916,232 I35T probably benign Het
Podn C A 4: 108,017,867 A568S probably benign Het
Pou3f1 A T 4: 124,658,836 E377V probably damaging Het
Ppfia1 T C 7: 144,485,192 D494G probably damaging Het
Ptpn9 A T 9: 57,022,211 T71S possibly damaging Het
Ptprz1 C T 6: 23,001,487 P1192L possibly damaging Het
Rnd2 C T 11: 101,468,999 L57F probably damaging Het
Rnf217 T A 10: 31,517,476 K370* probably null Het
Rpap2 G A 5: 107,601,795 V62I possibly damaging Het
Scaper A T 9: 55,655,903 probably null Het
Sos2 T C 12: 69,614,606 probably benign Het
Sptbn5 C T 2: 120,067,446 probably null Het
Sumo1 A G 1: 59,644,509 probably benign Het
Syne2 C A 12: 75,989,253 N3771K probably damaging Het
Tbx18 T C 9: 87,730,769 I26V possibly damaging Het
Trpm3 T A 19: 22,978,624 M1140K probably benign Het
Usp29 G A 7: 6,963,357 probably null Het
Wdr7 C T 18: 63,779,945 Q946* probably null Het
Ythdf1 T C 2: 180,912,182 D46G probably damaging Het
Zfp217 T C 2: 170,119,750 N219S possibly damaging Het
Zkscan3 A G 13: 21,393,783 I256T probably benign Het
Other mutations in Atp4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Atp4b APN 8 13389679 missense probably damaging 1.00
IGL02596:Atp4b APN 8 13393471 missense possibly damaging 0.87
R0558:Atp4b UTSW 8 13393523 missense possibly damaging 0.62
R0829:Atp4b UTSW 8 13390098 missense probably damaging 1.00
R0963:Atp4b UTSW 8 13390014 missense probably benign 0.00
R1528:Atp4b UTSW 8 13389693 missense possibly damaging 0.78
R1605:Atp4b UTSW 8 13393489 missense probably damaging 1.00
R2022:Atp4b UTSW 8 13387477 missense possibly damaging 0.88
R3824:Atp4b UTSW 8 13393549 missense probably damaging 1.00
R3825:Atp4b UTSW 8 13393549 missense probably damaging 1.00
R4108:Atp4b UTSW 8 13396640 critical splice donor site probably null
R4400:Atp4b UTSW 8 13388810 missense probably damaging 1.00
R4681:Atp4b UTSW 8 13389700 missense probably benign 0.01
R6056:Atp4b UTSW 8 13388782 missense probably damaging 1.00
R7485:Atp4b UTSW 8 13386732 missense probably benign
R7888:Atp4b UTSW 8 13389811 missense probably damaging 0.98
R8743:Atp4b UTSW 8 13393489 missense probably damaging 1.00
R8896:Atp4b UTSW 8 13387514 missense probably benign 0.00
R9523:Atp4b UTSW 8 13386746 missense probably damaging 0.99
R9742:Atp4b UTSW 8 13390097 missense probably damaging 1.00
Z1177:Atp4b UTSW 8 13389794 missense probably benign 0.00
Z1177:Atp4b UTSW 8 13396684 small deletion probably benign
Predicted Primers PCR Primer
(F):5'- GCAAAGCTCTCCTGGAAGAAG -3'
(R):5'- TGCTTACGGGAGTCTCAACAAC -3'

Sequencing Primer
(F):5'- GCTCTCCTGGAAGAAGTACTTTTCAG -3'
(R):5'- TTACGGGAGTCTCAACAACCTCAG -3'
Posted On 2015-09-25