Incidental Mutation 'R5342:Atp1b2'
ID 422397
Institutional Source Beutler Lab
Gene Symbol Atp1b2
Ensembl Gene ENSMUSG00000041329
Gene Name ATPase, Na+/K+ transporting, beta 2 polypeptide
Synonyms Amog, Atpb-2
MMRRC Submission 042921-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.879) question?
Stock # R5342 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 69490562-69496768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 69493654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 142 (V142I)
Ref Sequence ENSEMBL: ENSMUSP00000047353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047889] [ENSMUST00000138694]
AlphaFold P14231
Predicted Effect probably damaging
Transcript: ENSMUST00000047889
AA Change: V142I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000047353
Gene: ENSMUSG00000041329
AA Change: V142I

DomainStartEndE-ValueType
Pfam:Na_K-ATPase 7 283 1.1e-113 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130394
Predicted Effect probably benign
Transcript: ENSMUST00000138694
SMART Domains Protein: ENSMUSP00000116290
Gene: ENSMUSG00000041329

DomainStartEndE-ValueType
Pfam:Na_K-ATPase 1 130 1.3e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144425
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153198
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
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 2 subunit. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygotes for a null mutation exhibit lack of motor coordination, tremors, limb paralysis, enlarged ventricles, photoreceptor degeneration, vacuoles adjoining capillaries of brain stem, thalamus, striatum, and spinal cord, and death at 17-18 days of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb3 A C 8: 27,716,809 (GRCm39) Y392* probably null Het
Arap1 G A 7: 101,054,167 (GRCm39) E1330K probably benign Het
Atg2b G T 12: 105,625,175 (GRCm39) D600E possibly damaging Het
AW551984 A T 9: 39,505,847 (GRCm39) M450K probably damaging Het
Bcar3 A G 3: 122,220,298 (GRCm39) D65G probably damaging Het
Ccnt2 T C 1: 127,719,470 (GRCm39) silent Het
Cdca7l A G 12: 117,840,768 (GRCm39) Y430C probably damaging Het
Ces4a A G 8: 105,872,775 (GRCm39) T343A probably benign Het
Clec2g C T 6: 128,925,714 (GRCm39) A41V probably benign Het
Crybg3 A T 16: 59,342,512 (GRCm39) Y2708N probably damaging Het
Cspg4b T C 13: 113,502,803 (GRCm39) probably null Het
Dmxl1 A T 18: 50,084,302 (GRCm39) E2758V probably damaging Het
Eci2 C T 13: 35,162,707 (GRCm39) E283K probably benign Het
Edrf1 T A 7: 133,253,639 (GRCm39) probably null Het
Eif3b T C 5: 140,411,035 (GRCm39) L162P probably damaging Het
Ercc3 A G 18: 32,378,648 (GRCm39) I210V probably benign Het
Exoc1 A G 5: 76,714,861 (GRCm39) N739S probably damaging Het
Gm7334 A G 17: 51,005,782 (GRCm39) K23E probably benign Het
Gm7356 T G 17: 14,221,360 (GRCm39) D223A possibly damaging Het
Klhl26 A G 8: 70,908,215 (GRCm39) L47P probably damaging Het
Klhl42 C T 6: 146,993,784 (GRCm39) T252I possibly damaging Het
Morc1 G T 16: 48,438,872 (GRCm39) G756W probably damaging Het
Mroh2b G T 15: 4,943,615 (GRCm39) E384* probably null Het
Nol10 G A 12: 17,419,621 (GRCm39) probably null Het
Nxpe5 T C 5: 138,237,503 (GRCm39) L9P probably damaging Het
Or2r3 A G 6: 42,448,836 (GRCm39) I92T probably damaging Het
Or52z12 C T 7: 103,234,035 (GRCm39) R269C probably benign Het
Or7e166 A G 9: 19,624,333 (GRCm39) D70G probably damaging Het
Pak2 T C 16: 31,863,306 (GRCm39) E94G probably damaging Het
Pcdha7 A G 18: 37,107,724 (GRCm39) K250E possibly damaging Het
Pde8b T C 13: 95,178,498 (GRCm39) T541A probably damaging Het
Peg3 A T 7: 6,712,969 (GRCm39) I751N probably damaging Het
Prpsap2 T C 11: 61,622,396 (GRCm39) D269G probably damaging Het
Raver2 C A 4: 100,959,889 (GRCm39) T123K possibly damaging Het
Rpgrip1 G A 14: 52,382,666 (GRCm39) D600N possibly damaging Het
Scn2b A G 9: 45,036,816 (GRCm39) Y108C probably damaging Het
Sdr16c6 T C 4: 4,069,923 (GRCm39) E139G probably damaging Het
Sgpp2 A G 1: 78,336,825 (GRCm39) I68V probably benign Het
Sorbs2 T A 8: 46,249,050 (GRCm39) I687N probably damaging Het
Sorcs3 G A 19: 48,784,911 (GRCm39) probably null Het
Stk16 T A 1: 75,189,609 (GRCm39) C174S probably benign Het
Styxl2 T C 1: 165,937,819 (GRCm39) E80G probably benign Het
Ttll9 C A 2: 152,833,572 (GRCm39) N198K possibly damaging Het
Unc13c A T 9: 73,838,105 (GRCm39) D915E probably benign Het
Unc5b T A 10: 60,614,046 (GRCm39) K268* probably null Het
Vim T A 2: 13,584,824 (GRCm39) probably null Het
Xirp2 T A 2: 67,343,805 (GRCm39) N2015K probably damaging Het
Zfp160 T G 17: 21,240,995 (GRCm39) M21R possibly damaging Het
Other mutations in Atp1b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02043:Atp1b2 APN 11 69,496,102 (GRCm39) missense probably benign 0.30
R0190:Atp1b2 UTSW 11 69,492,388 (GRCm39) missense probably damaging 1.00
R1445:Atp1b2 UTSW 11 69,493,309 (GRCm39) critical splice acceptor site probably null
R1553:Atp1b2 UTSW 11 69,493,678 (GRCm39) missense probably damaging 1.00
R3085:Atp1b2 UTSW 11 69,493,705 (GRCm39) missense possibly damaging 0.58
R3699:Atp1b2 UTSW 11 69,496,095 (GRCm39) missense probably benign 0.09
R3916:Atp1b2 UTSW 11 69,493,901 (GRCm39) missense probably damaging 0.99
R3917:Atp1b2 UTSW 11 69,493,901 (GRCm39) missense probably damaging 0.99
R4201:Atp1b2 UTSW 11 69,494,295 (GRCm39) missense possibly damaging 0.65
R4627:Atp1b2 UTSW 11 69,492,160 (GRCm39) missense probably damaging 0.99
R4776:Atp1b2 UTSW 11 69,492,387 (GRCm39) missense probably damaging 1.00
R5115:Atp1b2 UTSW 11 69,494,299 (GRCm39) missense probably damaging 1.00
R5457:Atp1b2 UTSW 11 69,493,558 (GRCm39) missense probably damaging 1.00
R6618:Atp1b2 UTSW 11 69,494,289 (GRCm39) missense probably damaging 0.97
R9084:Atp1b2 UTSW 11 69,492,388 (GRCm39) missense probably damaging 1.00
Z1176:Atp1b2 UTSW 11 69,492,141 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- TAGTAAACAGATGGTGGCCCC -3'
(R):5'- TGTTCAGAAGCTCAACAAGTTC -3'

Sequencing Primer
(F):5'- GTGGCCCCAGCTCCCTC -3'
(R):5'- GCTCAACAAGTTCTTGGAACG -3'
Posted On 2016-08-04