Incidental Mutation 'R2226:Atp1b3'
ID 239735
Institutional Source Beutler Lab
Gene Symbol Atp1b3
Ensembl Gene ENSMUSG00000032412
Gene Name ATPase, Na+/K+ transporting, beta 3 polypeptide
Synonyms
MMRRC Submission 040227-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.917) question?
Stock # R2226 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 96214708-96246368 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96225329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 113 (F113S)
Ref Sequence ENSEMBL: ENSMUSP00000034983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034983]
AlphaFold P97370
Predicted Effect probably damaging
Transcript: ENSMUST00000034983
AA Change: F113S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034983
Gene: ENSMUSG00000032412
AA Change: F113S

DomainStartEndE-ValueType
Pfam:Na_K-ATPase 6 272 1.9e-97 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187341
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190045
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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 the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 3 subunit. This gene encodes a beta 3 subunit. A pseudogene exists for this gene, and it is located on chromosome 2. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A T 4: 144,190,295 (GRCm39) V2E possibly damaging Het
Aen C A 7: 78,552,199 (GRCm39) T15K probably benign Het
Aggf1 A G 13: 95,507,354 (GRCm39) S144P probably damaging Het
Ar T A X: 97,194,937 (GRCm39) M517K probably benign Het
Ascc3 A G 10: 50,630,148 (GRCm39) T1746A probably benign Het
Atg9b A G 5: 24,591,393 (GRCm39) V735A possibly damaging Het
Cacna1h T C 17: 25,604,917 (GRCm39) N1132S probably benign Het
Ccdc150 A G 1: 54,404,084 (GRCm39) I943V probably null Het
Cntnap4 A G 8: 113,542,120 (GRCm39) D751G probably damaging Het
Dgkk T A X: 6,741,487 (GRCm39) D102E probably damaging Het
Efhb A T 17: 53,769,457 (GRCm39) probably null Het
Elfn2 A G 15: 78,558,443 (GRCm39) W35R probably damaging Het
Emcn T C 3: 137,109,778 (GRCm39) I140T possibly damaging Het
Epha2 G A 4: 141,048,548 (GRCm39) R569H probably damaging Het
Gabrg2 A T 11: 41,862,735 (GRCm39) F116L probably damaging Het
Gm11555 T G 11: 99,540,585 (GRCm39) R141S unknown Het
Hectd3 T C 4: 116,852,886 (GRCm39) I96T possibly damaging Het
Hnrnpul2 T A 19: 8,802,349 (GRCm39) N405K probably damaging Het
Iigp1 A T 18: 60,522,960 (GRCm39) K26I possibly damaging Het
Kirrel2 T C 7: 30,153,579 (GRCm39) K260R probably damaging Het
Kpna1 G A 16: 35,851,591 (GRCm39) A392T probably damaging Het
Krt19 T C 11: 100,032,401 (GRCm39) E260G probably damaging Het
Marchf7 A G 2: 60,060,190 (GRCm39) R106G probably benign Het
Mthfd2l G T 5: 91,096,693 (GRCm39) E105* probably null Het
Mtus1 C T 8: 41,535,812 (GRCm39) V635M probably damaging Het
Ndufaf5 T C 2: 140,030,780 (GRCm39) V222A probably benign Het
Nkpd1 A T 7: 19,253,745 (GRCm39) Y37F probably benign Het
Nsun7 T A 5: 66,418,562 (GRCm39) Y97* probably null Het
Nxph3 T C 11: 95,404,990 (GRCm39) Y17C probably benign Het
Or2l5 T C 16: 19,333,996 (GRCm39) H130R probably benign Het
Or4k1 A G 14: 50,378,076 (GRCm39) S7P probably damaging Het
Or51a5 A G 7: 102,771,115 (GRCm39) M292T probably benign Het
Or5aq1 A C 2: 86,966,590 (GRCm39) V25G possibly damaging Het
Or7g19 A T 9: 18,856,177 (GRCm39) I78F probably damaging Het
P2rx2 A G 5: 110,490,745 (GRCm39) F26S probably damaging Het
Pank1 A T 19: 34,804,763 (GRCm39) L131Q probably damaging Het
Pcx T C 19: 4,668,026 (GRCm39) I516T possibly damaging Het
Pkhd1l1 T C 15: 44,376,188 (GRCm39) I950T possibly damaging Het
Ppwd1 A G 13: 104,353,753 (GRCm39) L335P probably damaging Het
Ptch1 A G 13: 63,661,485 (GRCm39) S1218P probably damaging Het
Ptpn4 C T 1: 119,610,515 (GRCm39) R664Q probably damaging Het
Semp2l1 A T 1: 32,584,934 (GRCm39) H325Q probably damaging Het
Sfxn1 A G 13: 54,239,536 (GRCm39) T20A possibly damaging Het
Sgsm3 A G 15: 80,888,069 (GRCm39) E53G probably damaging Het
Slc22a19 C T 19: 7,661,215 (GRCm39) V320M possibly damaging Het
Slc25a33 A T 4: 149,838,306 (GRCm39) I122N probably benign Het
Spata31d1a T A 13: 59,851,529 (GRCm39) I200L probably benign Het
Spin2g A T X: 33,656,599 (GRCm39) I171N possibly damaging Het
Srsf6 G A 2: 162,773,619 (GRCm39) S10N probably damaging Het
Tesl2 T A X: 23,825,173 (GRCm39) M1L probably null Het
Thoc2l T A 5: 104,667,286 (GRCm39) Y603N probably damaging Het
Ttc12 A G 9: 49,353,135 (GRCm39) probably null Het
Vmn2r100 A G 17: 19,742,634 (GRCm39) K336R probably benign Het
Vmn2r108 A T 17: 20,701,295 (GRCm39) Y68* probably null Het
Zfp738 A G 13: 67,818,431 (GRCm39) F520S probably damaging Het
Other mutations in Atp1b3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Atp1b3 APN 9 96,215,756 (GRCm39) splice site probably benign
R0164:Atp1b3 UTSW 9 96,220,762 (GRCm39) missense possibly damaging 0.87
R0164:Atp1b3 UTSW 9 96,220,762 (GRCm39) missense possibly damaging 0.87
R1513:Atp1b3 UTSW 9 96,246,206 (GRCm39) start codon destroyed probably null 1.00
R1590:Atp1b3 UTSW 9 96,225,402 (GRCm39) missense probably benign 0.06
R8289:Atp1b3 UTSW 9 96,215,602 (GRCm39) missense probably benign 0.06
R8883:Atp1b3 UTSW 9 96,246,122 (GRCm39) missense probably damaging 1.00
R9438:Atp1b3 UTSW 9 96,215,631 (GRCm39) missense possibly damaging 0.46
R9521:Atp1b3 UTSW 9 96,227,911 (GRCm39) missense probably damaging 1.00
R9578:Atp1b3 UTSW 9 96,220,754 (GRCm39) missense probably benign
R9624:Atp1b3 UTSW 9 96,222,293 (GRCm39) missense probably benign 0.06
Z1177:Atp1b3 UTSW 9 96,215,613 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATACGACACAGATTTGGCTTCATTC -3'
(R):5'- CTGCAACATCTGTGAACACACG -3'

Sequencing Primer
(F):5'- GGCTTCATTCTTACATCTAACTGAG -3'
(R):5'- TCTGTGAACACACGGCCCTTAAG -3'
Posted On 2014-10-15