Incidental Mutation 'R4420:Atp1b1'
ID 327029
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 041141-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.739) question?
Stock # R4420 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 164264678-164285924 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 164281127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 53 (T53A)
Ref Sequence ENSEMBL: ENSMUSP00000027863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027863] [ENSMUST00000193367]
AlphaFold P14094
Predicted Effect probably damaging
Transcript: ENSMUST00000027863
AA Change: T53A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027863
Gene: ENSMUSG00000026576
AA Change: T53A

DomainStartEndE-ValueType
Pfam:Na_K-ATPase 3 298 1.1e-100 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192522
Predicted Effect probably benign
Transcript: ENSMUST00000193367
SMART Domains Protein: ENSMUSP00000141777
Gene: ENSMUSG00000026576

DomainStartEndE-ValueType
Pfam:Na_K-ATPase 1 132 2.7e-48 PFAM
Meta Mutation Damage Score 0.4025 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 96% (53/55)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef17 G A 7: 100,531,515 (GRCm39) probably benign Het
Carmil3 A G 14: 55,731,045 (GRCm39) Q104R probably damaging Het
Casz1 T G 4: 149,033,375 (GRCm39) N1382K possibly damaging Het
Chfr T A 5: 110,318,746 (GRCm39) C585* probably null Het
Chp2 T C 7: 121,821,161 (GRCm39) F174S probably damaging Het
Dclre1c A T 2: 3,434,782 (GRCm39) probably null Het
Dnah6 A G 6: 73,168,462 (GRCm39) V487A probably benign Het
Dnah9 T C 11: 66,009,575 (GRCm39) R771G probably benign Het
Duox1 G A 2: 122,157,607 (GRCm39) A578T probably benign Het
Elp3 G A 14: 65,818,240 (GRCm39) A140V probably damaging Het
Fbrsl1 T C 5: 110,526,852 (GRCm39) H387R possibly damaging Het
Gnat3 T C 5: 18,204,799 (GRCm39) S151P probably damaging Het
Gucy1a2 T A 9: 3,634,640 (GRCm39) L228H probably damaging Het
Gzmn A T 14: 56,403,463 (GRCm39) H215Q probably benign Het
Heg1 A T 16: 33,547,805 (GRCm39) E864V probably benign Het
Hoxb9 T C 11: 96,162,807 (GRCm39) V147A probably benign Het
Hsf5 T G 11: 87,548,130 (GRCm39) H604Q probably benign Het
Hus1 T C 11: 8,950,133 (GRCm39) E196G probably damaging Het
Il12rb2 G T 6: 67,293,394 (GRCm39) probably null Het
Irs1 T C 1: 82,266,171 (GRCm39) S682G possibly damaging Het
Jcad T C 18: 4,676,032 (GRCm39) S1265P probably benign Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Matk A G 10: 81,098,291 (GRCm39) S361G possibly damaging Het
Mroh5 TGGAG TG 15: 73,654,923 (GRCm39) probably benign Het
Nceh1 A G 3: 27,295,798 (GRCm39) D353G probably damaging Het
Nqo1 C T 8: 108,118,749 (GRCm39) probably null Het
Or5t7 A G 2: 86,507,263 (GRCm39) V138A possibly damaging Het
Pcdh7 T C 5: 58,286,512 (GRCm39) I1196T probably benign Het
Pla2g4d A G 2: 120,114,644 (GRCm39) V29A probably benign Het
Ppfibp1 T A 6: 146,927,736 (GRCm39) Y794* probably null Het
Prdx5 C A 19: 6,885,332 (GRCm39) probably null Het
Psme4 C T 11: 30,762,028 (GRCm39) T456I possibly damaging Het
Ptprd A T 4: 75,957,614 (GRCm39) S923R possibly damaging Het
Samd12 G A 15: 53,723,655 (GRCm39) R13W probably damaging Het
Slc35f4 A T 14: 49,551,034 (GRCm39) probably benign Het
Smc1b A G 15: 84,997,031 (GRCm39) Y530H probably damaging Het
Spata2l T C 8: 123,960,768 (GRCm39) T174A possibly damaging Het
Sugct C T 13: 17,627,130 (GRCm39) C241Y probably damaging Het
Tarbp1 G T 8: 127,173,819 (GRCm39) A965D possibly damaging Het
Tas1r3 A G 4: 155,946,789 (GRCm39) V272A probably damaging Het
Tas2r117 T A 6: 132,780,312 (GRCm39) L150* probably null Het
Trip10 C T 17: 57,562,448 (GRCm39) P322L probably benign Het
Wdfy3 A C 5: 102,058,850 (GRCm39) H1487Q probably damaging Het
Wdr95 G A 5: 149,456,131 (GRCm39) V8M probably damaging Het
Zc3h15 C A 2: 83,488,356 (GRCm39) A98E probably damaging Het
Zfp763 T G 17: 33,237,455 (GRCm39) K563N probably benign Het
Zmym2 G A 14: 57,194,335 (GRCm39) D1198N probably damaging Het
Zp1 C T 19: 10,892,124 (GRCm39) probably null 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
R3811:Atp1b1 UTSW 1 164,270,874 (GRCm39) missense probably benign 0.00
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
R4945:Atp1b1 UTSW 1 164,265,867 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ACCCCAGAACTGTGTAGGAC -3'
(R):5'- AGCCCTTCAGCCACCTTAAG -3'

Sequencing Primer
(F):5'- AGCAGAGGTCCTGAGTCCTC -3'
(R):5'- CCCTCTTTTGATTACTGAGAGAAAC -3'
Posted On 2015-07-07