Incidental Mutation 'R3699:Atp1b2'
ID 269924
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 040692-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.900) question?
Stock # R3699 (G1)
Quality Score 87
Status Validated
Chromosome 11
Chromosomal Location 69490562-69496768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 69496095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 35 (T35I)
Ref Sequence ENSEMBL: ENSMUSP00000047353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047889] [ENSMUST00000138694]
AlphaFold P14231
Predicted Effect probably benign
Transcript: ENSMUST00000047889
AA Change: T35I

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000047353
Gene: ENSMUSG00000041329
AA Change: T35I

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
Meta Mutation Damage Score 0.0640 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (33/33)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd29 G A 18: 12,387,757 (GRCm39) A275V possibly damaging Het
Baz1a A G 12: 54,963,831 (GRCm39) V751A probably benign Het
Cdh23 C A 10: 60,163,149 (GRCm39) probably null Het
Chd2 G T 7: 73,118,238 (GRCm39) L1127I probably benign Het
D7Ertd443e A G 7: 133,950,797 (GRCm39) L292P probably damaging Het
Dst T C 1: 34,252,155 (GRCm39) probably benign Het
Dync2i1 C T 12: 116,175,462 (GRCm39) W905* probably null Het
Gm8229 T A 14: 44,603,984 (GRCm39) S58T unknown Het
Gucy2c A T 6: 136,747,109 (GRCm39) C117S probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Klhl18 A G 9: 110,265,134 (GRCm39) Y291H probably benign Het
Lamc1 G T 1: 153,130,951 (GRCm39) S333R possibly damaging Het
Lbr T C 1: 181,646,485 (GRCm39) Y479C probably damaging Het
Nampt T C 12: 32,898,758 (GRCm39) probably benign Het
Or10am5 A G 7: 6,517,993 (GRCm39) M145T probably damaging Het
Pcnx3 G T 19: 5,722,493 (GRCm39) R1400S probably damaging Het
Pde4b C T 4: 102,458,742 (GRCm39) A466V probably damaging Het
Piezo1 C T 8: 123,221,642 (GRCm39) R584H probably damaging Het
Polq C A 16: 36,862,518 (GRCm39) S338Y probably damaging Het
Pramel26 A G 4: 143,536,922 (GRCm39) S470P probably benign Het
Rassf8 T C 6: 145,765,802 (GRCm39) probably benign Het
Rere A T 4: 150,561,819 (GRCm39) probably null Het
Rps6kb1 A G 11: 86,423,620 (GRCm39) F120S probably damaging Het
Scarf1 G T 11: 75,405,195 (GRCm39) C78F probably damaging Het
Tepsin C T 11: 119,982,579 (GRCm39) C491Y possibly damaging Het
Trpv4 A G 5: 114,772,861 (GRCm39) S243P probably damaging Het
Whrn A T 4: 63,379,649 (GRCm39) probably benign Het
Zfp521 G T 18: 13,979,330 (GRCm39) S361* probably null Het
Zfyve19 A G 2: 119,041,720 (GRCm39) T96A probably benign 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
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
R5342:Atp1b2 UTSW 11 69,493,654 (GRCm39) missense probably damaging 0.99
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'- AGAGATTAGACCGCTGATTCG -3'
(R):5'- ATATCTGACTGGAGTCTCCCTGC -3'

Sequencing Primer
(F):5'- TGATTCGGGGCCCCTCC -3'
(R):5'- TGCGTGGAGGGCTTCAGC -3'
Posted On 2015-03-18