Incidental Mutation 'R9578:Atp1b3'
ID 722417
Institutional Source Beutler Lab
Gene Symbol Atp1b3
Ensembl Gene ENSMUSG00000032412
Gene Name ATPase, Na+/K+ transporting, beta 3 polypeptide
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.917) question?
Stock # R9578 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 96214708-96246368 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 96220754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 180 (D180E)
Ref Sequence ENSEMBL: ENSMUSP00000034983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034983]
AlphaFold P97370
Predicted Effect probably benign
Transcript: ENSMUST00000034983
AA Change: D180E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034983
Gene: ENSMUSG00000032412
AA Change: D180E

DomainStartEndE-ValueType
Pfam:Na_K-ATPase 6 272 1.9e-97 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik G A 8: 106,436,505 (GRCm39) G234S probably damaging Het
Aipl1 C T 11: 71,928,253 (GRCm39) G11D probably damaging Het
Aldh8a1 A G 10: 21,253,281 (GRCm39) I14M probably damaging Het
Arhgap11a A G 2: 113,670,125 (GRCm39) S333P possibly damaging Het
B3gnt8 T C 7: 25,328,089 (GRCm39) L173P probably damaging Het
Cabin1 A G 10: 75,590,185 (GRCm39) F37S probably damaging Het
Carmil3 G T 14: 55,741,293 (GRCm39) probably null Het
Cfi G T 3: 129,659,024 (GRCm39) M327I probably benign Het
Cltc G A 11: 86,593,237 (GRCm39) S1542F probably benign Het
Col7a1 G A 9: 108,789,350 (GRCm39) G854D unknown Het
Cux1 A T 5: 136,282,919 (GRCm39) probably null Het
Dcdc2c G T 12: 28,602,234 (GRCm39) N23K probably damaging Het
Dclre1a A G 19: 56,528,734 (GRCm39) I807T probably damaging Het
Dnah14 T C 1: 181,502,007 (GRCm39) F1770L probably benign Het
Dnajc13 A G 9: 104,115,726 (GRCm39) F28L probably benign Het
Dtna A G 18: 23,728,612 (GRCm39) D269G probably damaging Het
Dusp4 G T 8: 35,274,822 (GRCm39) probably benign Het
Ece1 T C 4: 137,641,133 (GRCm39) S19P probably benign Het
Gas1 T C 13: 60,323,905 (GRCm39) D243G possibly damaging Het
Ggnbp2 A G 11: 84,744,989 (GRCm39) C178R probably benign Het
Gm12185 T A 11: 48,806,408 (GRCm39) N261I probably benign Het
Grm4 A T 17: 27,669,183 (GRCm39) F362I possibly damaging Het
Icos T A 1: 61,032,871 (GRCm39) N23K probably benign Het
Kcnk2 CAAA CAA 1: 188,988,891 (GRCm39) probably null Het
Krt5 T C 15: 101,620,153 (GRCm39) K188R probably damaging Het
Mindy3 C T 2: 12,361,715 (GRCm39) probably null Het
Ncdn C T 4: 126,645,795 (GRCm39) R38H probably damaging Het
Nol9 A G 4: 152,125,706 (GRCm39) K219R probably benign Het
Opalin A T 19: 41,060,668 (GRCm39) S2R probably damaging Het
Or8g35 A T 9: 39,381,201 (GRCm39) S274T probably damaging Het
Pask G A 1: 93,263,390 (GRCm39) S122L probably benign Het
Pcdha11 T C 18: 37,140,176 (GRCm39) S602P probably damaging Het
Pclo A G 5: 14,816,753 (GRCm39) K1271R Het
Piezo1 T C 8: 123,224,214 (GRCm39) H763R Het
Pigr A G 1: 130,777,350 (GRCm39) K719E probably benign Het
Piwil4 A T 9: 14,638,790 (GRCm39) V245E probably damaging Het
Plcb4 A G 2: 135,829,444 (GRCm39) M925V probably benign Het
Pomt1 G A 2: 32,133,543 (GRCm39) probably null Het
Pou2f2 C A 7: 24,796,569 (GRCm39) A302S probably benign Het
Rapgef4 A T 2: 72,026,052 (GRCm39) H359L probably damaging Het
Rfesd C T 13: 76,156,299 (GRCm39) V36I possibly damaging Het
Rims1 G A 1: 22,523,823 (GRCm39) T421M probably damaging Het
Serpinf2 T A 11: 75,327,615 (GRCm39) H150L probably benign Het
Syt10 A T 15: 89,675,122 (GRCm39) M408K possibly damaging Het
Tcea1 T A 1: 4,961,021 (GRCm39) probably null Het
Tia1 T C 6: 86,407,347 (GRCm39) *387R probably null Het
Top3a A C 11: 60,647,517 (GRCm39) V186G probably damaging Het
Upk3b T A 5: 136,067,736 (GRCm39) S27R unknown Het
Usp18 A G 6: 121,239,726 (GRCm39) S274G probably benign Het
Vmn1r230 C A 17: 21,067,163 (GRCm39) C117* probably null Het
Vmn1r72 T C 7: 11,404,347 (GRCm39) I34V probably benign Het
Vmn2r74 T C 7: 85,606,101 (GRCm39) D415G probably benign Het
Zfp54 A G 17: 21,655,186 (GRCm39) Y560C 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
R2226:Atp1b3 UTSW 9 96,225,329 (GRCm39) missense probably damaging 1.00
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
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'- GACACCTGGGGTTGTAATGC -3'
(R):5'- GGAGAGATAGCTGTGAACGTATTTTC -3'

Sequencing Primer
(F):5'- CACCTGGGGTTGTAATGCTAACTTC -3'
(R):5'- CAGCTGTGATCCCAGCGTTTG -3'
Posted On 2022-08-09