Incidental Mutation 'R0963:Atp4b'
ID 81376
Institutional Source Beutler Lab
Gene Symbol Atp4b
Ensembl Gene ENSMUSG00000031449
Gene Name ATPase, H+/K+ exchanging, beta polypeptide
Synonyms H+/K+-ATPase beta, H,K-ATPase-Beta, H+,K+-ATPase
MMRRC Submission 039092-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0963 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 13436209-13446778 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 13440014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 111 (H111N)
Ref Sequence ENSEMBL: ENSMUSP00000033826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033826]
AlphaFold P50992
Predicted Effect probably benign
Transcript: ENSMUST00000033826
AA Change: H111N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000033826
Gene: ENSMUSG00000031449
AA Change: H111N

DomainStartEndE-ValueType
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: 99.4%
  • 3x: 98.8%
  • 10x: 97.1%
  • 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb2 A G 13: 8,722,451 (GRCm39) D369G probably damaging Het
Adcy7 T C 8: 89,038,893 (GRCm39) V303A probably damaging Het
Afap1l1 A T 18: 61,870,001 (GRCm39) Y610N probably damaging Het
Agr3 T A 12: 35,984,433 (GRCm39) H53Q probably benign Het
Akr1d1 A G 6: 37,507,209 (GRCm39) I10M probably damaging Het
Bbs7 G T 3: 36,667,412 (GRCm39) A8E probably benign Het
Bsn C T 9: 107,989,006 (GRCm39) V2249M possibly damaging Het
Cpt1a T C 19: 3,431,634 (GRCm39) S685P probably damaging Het
Dhx57 A T 17: 80,582,956 (GRCm39) H163Q probably benign Het
Duox2 A C 2: 122,117,653 (GRCm39) C894G probably benign Het
Ecm1 T C 3: 95,643,900 (GRCm39) T209A possibly damaging Het
Glo1 T C 17: 30,819,085 (GRCm39) N79S probably benign Het
Htra1 T A 7: 130,584,009 (GRCm39) M388K possibly damaging Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Jag2 C T 12: 112,878,934 (GRCm39) E496K probably damaging Het
Kcnh2 C T 5: 24,527,670 (GRCm39) R894H probably damaging Het
Khdc1c A G 1: 21,439,833 (GRCm39) N128S probably benign Het
Lamc1 T C 1: 153,119,132 (GRCm39) N829S probably benign Het
Leprotl1 T C 8: 34,606,189 (GRCm39) Y33C probably damaging Het
Lypd11 A T 7: 24,423,047 (GRCm39) D90E probably benign Het
Map3k3 T A 11: 106,014,618 (GRCm39) S130T probably benign Het
Mip C T 10: 128,061,854 (GRCm39) A35V probably benign Het
Ms4a19 T C 19: 11,118,921 (GRCm39) T63A possibly damaging Het
Myh15 A G 16: 48,952,512 (GRCm39) R861G probably damaging Het
Myom1 A C 17: 71,384,762 (GRCm39) I718L possibly damaging Het
Naip6 C T 13: 100,452,983 (GRCm39) R26H probably benign Het
Or52e4 G A 7: 104,706,179 (GRCm39) C242Y probably damaging Het
Pde6b A G 5: 108,578,534 (GRCm39) E824G probably benign Het
Pramel24 T A 4: 143,453,678 (GRCm39) I262N possibly damaging Het
Rbm19 T G 5: 120,268,799 (GRCm39) S476A possibly damaging Het
Rpl39l T A 16: 9,992,162 (GRCm39) probably null Het
Sec24b A G 3: 129,834,554 (GRCm39) S79P probably benign Het
Slc15a2 G A 16: 36,594,935 (GRCm39) A146V probably damaging Het
Slmap T C 14: 26,189,675 (GRCm39) Y161C probably damaging Het
Smc4 T A 3: 68,933,259 (GRCm39) C652S probably damaging Het
Stab1 A G 14: 30,869,231 (GRCm39) I1499T probably damaging Het
Tnnt1 A G 7: 4,510,594 (GRCm39) L209P probably damaging Het
Trim52 T G 14: 106,344,973 (GRCm39) S210R probably benign Het
Tsc22d1 T A 14: 76,656,039 (GRCm39) N82K possibly damaging Het
Wdr75 T C 1: 45,856,470 (GRCm39) Y498H probably benign Het
Zfp955a C T 17: 33,462,726 (GRCm39) S56N probably benign Het
Other mutations in Atp4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Atp4b APN 8 13,439,679 (GRCm39) missense probably damaging 1.00
IGL02596:Atp4b APN 8 13,443,471 (GRCm39) missense possibly damaging 0.87
R0558:Atp4b UTSW 8 13,443,523 (GRCm39) missense possibly damaging 0.62
R0829:Atp4b UTSW 8 13,440,098 (GRCm39) missense probably damaging 1.00
R1528:Atp4b UTSW 8 13,439,693 (GRCm39) missense possibly damaging 0.78
R1605:Atp4b UTSW 8 13,443,489 (GRCm39) missense probably damaging 1.00
R2022:Atp4b UTSW 8 13,437,477 (GRCm39) missense possibly damaging 0.88
R3824:Atp4b UTSW 8 13,443,549 (GRCm39) missense probably damaging 1.00
R3825:Atp4b UTSW 8 13,443,549 (GRCm39) missense probably damaging 1.00
R4108:Atp4b UTSW 8 13,446,640 (GRCm39) critical splice donor site probably null
R4400:Atp4b UTSW 8 13,438,810 (GRCm39) missense probably damaging 1.00
R4606:Atp4b UTSW 8 13,439,998 (GRCm39) missense probably damaging 1.00
R4681:Atp4b UTSW 8 13,439,700 (GRCm39) missense probably benign 0.01
R6056:Atp4b UTSW 8 13,438,782 (GRCm39) missense probably damaging 1.00
R7485:Atp4b UTSW 8 13,436,732 (GRCm39) missense probably benign
R7888:Atp4b UTSW 8 13,439,811 (GRCm39) missense probably damaging 0.98
R8743:Atp4b UTSW 8 13,443,489 (GRCm39) missense probably damaging 1.00
R8896:Atp4b UTSW 8 13,437,514 (GRCm39) missense probably benign 0.00
R9523:Atp4b UTSW 8 13,436,746 (GRCm39) missense probably damaging 0.99
R9742:Atp4b UTSW 8 13,440,097 (GRCm39) missense probably damaging 1.00
Z1177:Atp4b UTSW 8 13,446,684 (GRCm39) small deletion probably benign
Z1177:Atp4b UTSW 8 13,439,794 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCTGCAAAGCTCTCCTGGAAGAAG -3'
(R):5'- CCAAGTGTCACTATTGCTGGGCTG -3'

Sequencing Primer
(F):5'- CAGATGTACAGTTGATGCTGTCC -3'
(R):5'- TGCTTACGGGAGTCTCAAC -3'
Posted On 2013-11-07