Incidental Mutation 'R9521:Atp1b3'
ID 718893
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 # R9521 (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 G at 96227911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 49 (F49L)
Ref Sequence ENSEMBL: ENSMUSP00000034983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034983]
AlphaFold P97370
Predicted Effect probably damaging
Transcript: ENSMUST00000034983
AA Change: F49L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034983
Gene: ENSMUSG00000032412
AA Change: F49L

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: 99.1%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,608,778 (GRCm39) probably null Het
A030005K14Rik C A 1: 83,036,980 (GRCm39) G17V unknown Het
Afap1l1 C T 18: 61,879,863 (GRCm39) A336T probably benign Het
Akap8 C T 17: 32,530,036 (GRCm39) R395H possibly damaging Het
Ankrd26 G A 6: 118,517,420 (GRCm39) A467V possibly damaging Het
Ano9 A T 7: 140,682,227 (GRCm39) S683T probably benign Het
Aox3 C A 1: 58,164,222 (GRCm39) A164E probably benign Het
Apc T C 18: 34,445,738 (GRCm39) I878T probably benign Het
Apcdd1 C T 18: 63,055,731 (GRCm39) probably benign Het
Atg9b T C 5: 24,593,107 (GRCm39) N432S probably benign Het
Cacnb2 A T 2: 14,609,138 (GRCm39) probably benign Het
Ccdc180 T A 4: 45,916,283 (GRCm39) L828Q probably null Het
Chd3 C T 11: 69,249,133 (GRCm39) R748Q probably benign Het
Chst13 G A 6: 90,286,506 (GRCm39) P152L probably damaging Het
Cldn18 T A 9: 99,581,028 (GRCm39) probably null Het
Cmklr1 C T 5: 113,752,480 (GRCm39) V174I probably benign Het
Cyp2d22 A T 15: 82,256,688 (GRCm39) V362D probably damaging Het
Dock10 T C 1: 80,501,763 (GRCm39) K1810R probably damaging Het
Duox1 T A 2: 122,159,216 (GRCm39) V661E possibly damaging Het
Ercc2 G A 7: 19,125,899 (GRCm39) R518Q probably damaging Het
Fam186a A G 15: 99,841,471 (GRCm39) L1591P probably damaging Het
Fam186b G T 15: 99,178,419 (GRCm39) D302E probably benign Het
Fap T C 2: 62,372,500 (GRCm39) D326G probably benign Het
Gm42669 T A 5: 107,655,892 (GRCm39) D135E Het
Keap1 A T 9: 21,143,136 (GRCm39) V463E probably damaging Het
Mga T C 2: 119,794,979 (GRCm39) S2888P probably damaging Het
Mgam A G 6: 40,722,118 (GRCm39) D403G probably damaging Het
Mios C T 6: 8,233,171 (GRCm39) T773I probably benign Het
Nav3 T C 10: 109,835,845 (GRCm39) D79G possibly damaging Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Or52d3 A G 7: 104,228,855 (GRCm39) M1V probably null Het
Or8k35 C A 2: 86,424,771 (GRCm39) V134F Het
Orc6 T C 8: 86,026,615 (GRCm39) V20A possibly damaging Het
Peli2 A G 14: 48,490,052 (GRCm39) K175E probably benign Het
Plec C G 15: 76,062,924 (GRCm39) R2382P possibly damaging Het
Ppp1r12b T A 1: 134,705,063 (GRCm39) D875V probably damaging Het
Pramel6 T A 2: 87,340,629 (GRCm39) C320* probably null Het
Qrich2 A T 11: 116,339,208 (GRCm39) M26K probably damaging Het
Rapgef1 A G 2: 29,624,291 (GRCm39) I1006V probably benign Het
Rasgrp3 T A 17: 75,821,158 (GRCm39) L455Q probably null Het
Scaf8 C T 17: 3,248,285 (GRCm39) R1203W probably damaging Het
Senp6 C T 9: 79,974,687 (GRCm39) probably benign Het
Senp7 A G 16: 55,992,144 (GRCm39) Y700C probably damaging Het
Siglec1 A G 2: 130,915,246 (GRCm39) probably null Het
Slc12a7 G A 13: 73,947,087 (GRCm39) V592I probably benign Het
Slfn3 T C 11: 83,103,825 (GRCm39) V232A probably benign Het
Tdp1 T C 12: 99,877,906 (GRCm39) V396A probably damaging Het
Ticam1 T C 17: 56,578,388 (GRCm39) T236A probably benign Het
Tob1 AGCAGCAGCAGCAGCAGCAGCCGTCATCATCCCAGCCGCCGCCTCCACTACCGCAGCAGCAGCAGCAGCAGCC AGCAGCAGCAGCAGCAGCAGCC 11: 94,105,205 (GRCm39) probably benign Het
Ttc21a C A 9: 119,787,181 (GRCm39) D729E probably damaging Het
Ubtd2 T C 11: 32,449,432 (GRCm39) I93T possibly damaging Het
Unc45b A G 11: 82,808,586 (GRCm39) D224G probably benign Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Vmn2r61 A G 7: 41,916,626 (GRCm39) E413G probably damaging Het
Zfp423 A T 8: 88,509,033 (GRCm39) L437Q probably damaging Het
Zfp810 A G 9: 22,190,227 (GRCm39) V227A possibly 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
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'- TGCTGTGATATAAAACTGCTCTGTG -3'
(R):5'- ACTTTGCTGGAAGAACAAGATG -3'

Sequencing Primer
(F):5'- CTGCTCTGTGGTAAAGACAAGC -3'
(R):5'- CCCTTACTTACTTAGGTAATGTGAGG -3'
Posted On 2022-07-18