Incidental Mutation 'R3811:Atp1b1'
ID 275184
Institutional Source Beutler Lab
Gene Symbol Atp1b1
Ensembl Gene ENSMUSG00000026576
Gene Name ATPase, Na+/K+ transporting, beta 1 polypeptide
Synonyms Atpb-1, Atpb, sodium/potassium ATPase beta subunit
MMRRC Submission 040767-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.739) question?
Stock # R3811 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 164264678-164285924 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 164270874 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 35 (R35H)
Ref Sequence ENSEMBL: ENSMUSP00000141777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027863] [ENSMUST00000193367]
AlphaFold P14094
Predicted Effect probably benign
Transcript: ENSMUST00000027863
AA Change: R91H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000027863
Gene: ENSMUSG00000026576
AA Change: R91H

Pfam:Na_K-ATPase 3 298 1.1e-100 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193367
AA Change: R35H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000141777
Gene: ENSMUSG00000026576
AA Change: R35H

Pfam:Na_K-ATPase 1 132 2.7e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193980
Meta Mutation Damage Score 0.0654 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 97% (36/37)
MGI Phenotype FUNCTION: This gene encodes an integral membrane protein that comprises a subunit of an ATP-metabolizing enzyme responsible for transporting sodium and potassium ions across the plasma membrane. This enzyme regulates the electrochemical gradient of these ions in cells, and plays a central role in osmoregulation and signal transmission in nerves and muscles, among other biological processes. The encoded protein is the non-catalytic beta subunit; it works together with a catalytic alpha subunit and a gamma subunit. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a conditional allele activated in cardiac tissue exhibit age-related cardiac hypertrophy and reduced cardiac function, insensitivity to ouabain, and increased heart dysfunction following aortic constriction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl3 G T 6: 34,776,664 (GRCm39) S385I probably damaging Het
Arhgap28 G A 17: 68,203,088 (GRCm39) P122S probably benign Het
Arid2 T C 15: 96,186,967 (GRCm39) V73A probably benign Het
Cacybp T C 1: 160,031,222 (GRCm39) D202G probably benign Het
Chsy3 C G 18: 59,309,242 (GRCm39) P165R probably benign Het
Creb3 C T 4: 43,565,501 (GRCm39) Q227* probably null Het
Crnkl1 C A 2: 145,773,226 (GRCm39) R140L probably damaging Het
Cyth4 A G 15: 78,488,849 (GRCm39) E39G probably damaging Het
Dnah6 T C 6: 73,168,481 (GRCm39) T481A probably benign Het
Dock4 T A 12: 40,829,123 (GRCm39) I1003N possibly damaging Het
Galntl5 T C 5: 25,391,178 (GRCm39) F26L probably benign Het
Glrx5 C G 12: 104,999,147 (GRCm39) C63W probably damaging Het
Gm9602 T A 14: 15,932,645 (GRCm39) I28N probably damaging Het
Hivep2 A G 10: 14,006,101 (GRCm39) T900A probably benign Het
Hmcn1 A G 1: 150,525,328 (GRCm39) probably null Het
Ighv1-24 G T 12: 114,736,685 (GRCm39) L72I probably benign Het
Ilvbl G A 10: 78,414,869 (GRCm39) C244Y probably benign Het
Kat7 A G 11: 95,182,441 (GRCm39) probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Lamc1 A T 1: 153,138,454 (GRCm39) probably null Het
Mall T A 2: 127,550,774 (GRCm39) I129F probably damaging Het
Mdn1 A T 4: 32,693,506 (GRCm39) K1044* probably null Het
Med23 A T 10: 24,768,490 (GRCm39) R77* probably null Het
Med23 G A 10: 24,768,491 (GRCm39) probably null Het
Metap2 A T 10: 93,706,026 (GRCm39) L252* probably null Het
Or8k28 A T 2: 86,285,691 (GRCm39) V308E probably benign Het
Psmd1 T A 1: 86,060,437 (GRCm39) V828D probably damaging Het
Psmd9 C T 5: 123,372,653 (GRCm39) probably benign Het
Rbbp5 T C 1: 132,420,325 (GRCm39) V59A probably damaging Het
Sco2 T C 15: 89,257,882 (GRCm39) probably benign Het
Slc32a1 G T 2: 158,456,656 (GRCm39) C437F possibly damaging Het
Spem2 T C 11: 69,707,990 (GRCm39) E325G possibly damaging Het
Steap4 A G 5: 8,027,017 (GRCm39) T327A probably benign Het
Tsc2 T C 17: 24,848,011 (GRCm39) D70G probably benign Het
Txndc5 T C 13: 38,707,381 (GRCm39) K99E probably benign Het
Other mutations in Atp1b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01642:Atp1b1 APN 1 164,285,330 (GRCm39) missense probably benign 0.34
IGL01801:Atp1b1 APN 1 164,265,918 (GRCm39) missense probably damaging 1.00
R0941:Atp1b1 UTSW 1 164,270,829 (GRCm39) missense probably benign
R1034:Atp1b1 UTSW 1 164,281,057 (GRCm39) critical splice donor site probably null
R1597:Atp1b1 UTSW 1 164,265,889 (GRCm39) missense probably damaging 1.00
R2202:Atp1b1 UTSW 1 164,281,084 (GRCm39) missense probably benign 0.01
R3817:Atp1b1 UTSW 1 164,270,874 (GRCm39) missense probably benign 0.00
R3819:Atp1b1 UTSW 1 164,270,874 (GRCm39) missense probably benign 0.00
R3880:Atp1b1 UTSW 1 164,270,874 (GRCm39) missense probably benign 0.00
R4420:Atp1b1 UTSW 1 164,281,127 (GRCm39) missense probably damaging 1.00
R4945:Atp1b1 UTSW 1 164,265,867 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-04-02