Incidental Mutation 'R8002:Atp1a3'
ID 616405
Institutional Source Beutler Lab
Gene Symbol Atp1a3
Ensembl Gene ENSMUSG00000040907
Gene Name ATPase, Na+/K+ transporting, alpha 3 polypeptide
Synonyms Atpa-2
MMRRC Submission 046042-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8002 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 24677592-24705383 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 24700096 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 88 (G88V)
Ref Sequence ENSEMBL: ENSMUSP00000079691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080882] [ENSMUST00000102858] [ENSMUST00000196684]
AlphaFold Q6PIC6
Predicted Effect probably damaging
Transcript: ENSMUST00000080882
AA Change: G88V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000079691
Gene: ENSMUSG00000040907
AA Change: G88V

DomainStartEndE-ValueType
low complexity region 3 17 N/A INTRINSIC
Cation_ATPase_N 32 106 2.41e-22 SMART
Pfam:E1-E2_ATPase 125 356 6.3e-64 PFAM
Pfam:Hydrolase 360 719 2.6e-32 PFAM
Pfam:HAD 363 716 4.7e-18 PFAM
Pfam:Hydrolase_like2 416 511 5.7e-26 PFAM
Pfam:Cation_ATPase_C 789 998 3.5e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102858
AA Change: G88V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099922
Gene: ENSMUSG00000040907
AA Change: G88V

DomainStartEndE-ValueType
low complexity region 3 17 N/A INTRINSIC
Cation_ATPase_N 32 106 2.41e-22 SMART
Pfam:E1-E2_ATPase 124 355 4.6e-60 PFAM
Pfam:Hydrolase 360 719 5.7e-20 PFAM
Pfam:HAD 363 716 4.5e-19 PFAM
Pfam:Cation_ATPase 416 511 5.1e-25 PFAM
Pfam:Cation_ATPase_C 789 998 1.4e-46 PFAM
low complexity region 1030 1047 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000196684
AA Change: G101V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143735
Gene: ENSMUSG00000040907
AA Change: G101V

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
Cation_ATPase_N 45 119 1.9e-26 SMART
Pfam:E1-E2_ATPase 137 368 4e-58 PFAM
Pfam:Hydrolase 373 732 3.8e-18 PFAM
Pfam:HAD 376 729 3.8e-17 PFAM
Pfam:Cation_ATPase 429 524 5.2e-23 PFAM
Pfam:Cation_ATPase_C 802 1011 2.5e-44 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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 P-type cation transport ATPases, 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 catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a mutation in this gene display neonatal lethality. Heterozygous mice display hyperactivity, increased activity in responses to methamphetamine, and impaired spatial learning. Mice heterozygous for an ENU mutation exhibit convulsive and vestibular stress induced seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 C T 7: 119,172,480 (GRCm39) R133C possibly damaging Het
Adgrf4 T C 17: 42,978,683 (GRCm39) E220G probably benign Het
Alx3 T A 3: 107,508,055 (GRCm39) L188* probably null Het
Arhgef2 A T 3: 88,554,117 (GRCm39) I969F probably damaging Het
Atf6 A G 1: 170,646,823 (GRCm39) V350A probably benign Het
Brd8 T C 18: 34,741,609 (GRCm39) T360A probably benign Het
Casp1 C A 9: 5,303,164 (GRCm39) T206K possibly damaging Het
Ccdc150 A G 1: 54,311,656 (GRCm39) E214G probably damaging Het
Ccdc81 T C 7: 89,525,343 (GRCm39) E477G probably benign Het
Celsr2 G T 3: 108,311,285 (GRCm39) R1409S probably damaging Het
Chd6 T C 2: 160,832,241 (GRCm39) D977G probably damaging Het
Cpne3 A T 4: 19,528,232 (GRCm39) F342I probably damaging Het
Crot A C 5: 9,043,599 (GRCm39) S8A probably benign Het
Cyp11b2 T C 15: 74,727,881 (GRCm39) H67R probably damaging Het
Dnah1 A T 14: 31,020,679 (GRCm39) L1230H probably damaging Het
Dqx1 G A 6: 83,035,558 (GRCm39) D24N probably damaging Het
Gabrg3 T C 7: 56,384,716 (GRCm39) T282A possibly damaging Het
Gm13199 A G 2: 5,867,458 (GRCm39) S13P unknown Het
Gnptab A T 10: 88,276,130 (GRCm39) D1139V probably benign Het
Hdac1-ps T C 17: 78,799,716 (GRCm39) S236P probably damaging Het
Jtb T C 3: 90,141,251 (GRCm39) S76P probably benign Het
Klk1b27 T A 7: 43,705,445 (GRCm39) D172E probably benign Het
Lpcat4 G A 2: 112,074,699 (GRCm39) V307I probably benign Het
Ltn1 A C 16: 87,212,835 (GRCm39) S575R probably benign Het
Map3k13 A G 16: 21,723,878 (GRCm39) T287A probably benign Het
Marco T G 1: 120,422,509 (GRCm39) I58L probably benign Het
Nadk G T 4: 155,661,655 (GRCm39) probably null Het
Or11h7 A T 14: 50,891,314 (GRCm39) I207F probably damaging Het
Otof G A 5: 30,537,954 (GRCm39) T1215I probably benign Het
Pigw A T 11: 84,769,249 (GRCm39) C27S probably benign Het
Pla2g10 A T 16: 13,542,912 (GRCm39) M125K unknown Het
Rfx4 A C 10: 84,676,721 (GRCm39) M204L probably damaging Het
Septin1 T C 7: 126,815,074 (GRCm39) D209G probably damaging Het
Slc1a7 G A 4: 107,869,473 (GRCm39) V513M probably benign Het
Slc26a4 T C 12: 31,597,969 (GRCm39) D159G probably benign Het
Sptbn4 C A 7: 27,117,417 (GRCm39) S444I possibly damaging Het
Srebf2 C T 15: 82,062,966 (GRCm39) R468C probably damaging Het
Stard6 T A 18: 70,633,597 (GRCm39) D201E possibly damaging Het
Tas2r114 T C 6: 131,666,102 (GRCm39) T309A probably damaging Het
Tdrd6 C A 17: 43,940,710 (GRCm39) A113S probably damaging Het
Tigd2 T G 6: 59,187,494 (GRCm39) N120K probably damaging Het
Tomm70a A G 16: 56,957,097 (GRCm39) N224S probably damaging Het
Tspo T C 15: 83,455,640 (GRCm39) V9A probably benign Het
Vmn1r21 T A 6: 57,821,199 (GRCm39) I82L probably benign Het
Vmn2r103 T A 17: 20,019,511 (GRCm39) C532S probably damaging Het
Vmn2r76 T C 7: 85,879,271 (GRCm39) N343S probably benign Het
Wdr62 T C 7: 29,951,785 (GRCm39) K665E probably damaging Het
Xpc T A 6: 91,469,287 (GRCm39) N820I probably damaging Het
Zfp418 A G 7: 7,184,873 (GRCm39) T279A probably benign Het
Other mutations in Atp1a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02129:Atp1a3 APN 7 24,696,711 (GRCm39) missense probably damaging 0.98
IGL02736:Atp1a3 APN 7 24,679,534 (GRCm39) missense probably damaging 1.00
IGL02738:Atp1a3 APN 7 24,689,901 (GRCm39) missense possibly damaging 0.86
IGL02806:Atp1a3 APN 7 24,681,297 (GRCm39) missense probably damaging 1.00
borah UTSW 7 24,693,994 (GRCm39) missense probably damaging 1.00
Clonic UTSW 7 24,687,410 (GRCm39) missense probably benign 0.37
Littlewolf UTSW 7 24,681,216 (GRCm39) missense probably damaging 1.00
R0003:Atp1a3 UTSW 7 24,688,989 (GRCm39) splice site probably benign
R0254:Atp1a3 UTSW 7 24,680,937 (GRCm39) splice site probably benign
R0420:Atp1a3 UTSW 7 24,680,052 (GRCm39) missense probably benign
R0437:Atp1a3 UTSW 7 24,698,392 (GRCm39) missense probably benign 0.36
R0666:Atp1a3 UTSW 7 24,689,974 (GRCm39) missense probably benign 0.01
R0932:Atp1a3 UTSW 7 24,687,401 (GRCm39) critical splice donor site probably null
R1586:Atp1a3 UTSW 7 24,678,808 (GRCm39) missense probably damaging 0.97
R1981:Atp1a3 UTSW 7 24,700,400 (GRCm39) missense probably benign 0.19
R2105:Atp1a3 UTSW 7 24,689,278 (GRCm39) missense probably damaging 1.00
R3076:Atp1a3 UTSW 7 24,679,498 (GRCm39) missense possibly damaging 0.48
R3110:Atp1a3 UTSW 7 24,694,119 (GRCm39) missense probably damaging 1.00
R3112:Atp1a3 UTSW 7 24,694,119 (GRCm39) missense probably damaging 1.00
R4223:Atp1a3 UTSW 7 24,700,355 (GRCm39) missense probably benign 0.09
R4327:Atp1a3 UTSW 7 24,687,056 (GRCm39) intron probably benign
R4598:Atp1a3 UTSW 7 24,678,766 (GRCm39) missense probably damaging 0.99
R4626:Atp1a3 UTSW 7 24,698,193 (GRCm39) missense possibly damaging 0.75
R4789:Atp1a3 UTSW 7 24,698,389 (GRCm39) missense probably damaging 1.00
R4963:Atp1a3 UTSW 7 24,694,051 (GRCm39) missense probably damaging 0.97
R5243:Atp1a3 UTSW 7 24,693,994 (GRCm39) missense probably damaging 1.00
R5294:Atp1a3 UTSW 7 24,687,473 (GRCm39) missense probably damaging 0.98
R5668:Atp1a3 UTSW 7 24,678,294 (GRCm39) intron probably benign
R5704:Atp1a3 UTSW 7 24,696,736 (GRCm39) missense probably damaging 0.98
R5870:Atp1a3 UTSW 7 24,697,003 (GRCm39) missense probably benign 0.03
R5934:Atp1a3 UTSW 7 24,678,299 (GRCm39) intron probably benign
R6183:Atp1a3 UTSW 7 24,681,177 (GRCm39) missense probably damaging 1.00
R6492:Atp1a3 UTSW 7 24,678,729 (GRCm39) missense probably damaging 1.00
R6996:Atp1a3 UTSW 7 24,697,051 (GRCm39) missense probably damaging 1.00
R7165:Atp1a3 UTSW 7 24,678,390 (GRCm39) missense probably benign 0.13
R7229:Atp1a3 UTSW 7 24,687,410 (GRCm39) missense probably benign 0.37
R7239:Atp1a3 UTSW 7 24,700,129 (GRCm39) missense probably damaging 1.00
R7301:Atp1a3 UTSW 7 24,689,940 (GRCm39) missense probably benign 0.00
R7330:Atp1a3 UTSW 7 24,700,577 (GRCm39) nonsense probably null
R7348:Atp1a3 UTSW 7 24,678,251 (GRCm39) missense unknown
R7432:Atp1a3 UTSW 7 24,705,300 (GRCm39) unclassified probably benign
R7490:Atp1a3 UTSW 7 24,686,895 (GRCm39) missense probably damaging 1.00
R7556:Atp1a3 UTSW 7 24,680,991 (GRCm39) missense probably benign 0.02
R7860:Atp1a3 UTSW 7 24,681,216 (GRCm39) missense probably damaging 1.00
R7861:Atp1a3 UTSW 7 24,700,573 (GRCm39) missense unknown
R7993:Atp1a3 UTSW 7 24,700,406 (GRCm39) critical splice acceptor site probably null
R8010:Atp1a3 UTSW 7 24,680,070 (GRCm39) missense possibly damaging 0.90
R8430:Atp1a3 UTSW 7 24,698,437 (GRCm39) missense probably damaging 1.00
R8780:Atp1a3 UTSW 7 24,680,979 (GRCm39) missense probably damaging 0.96
R8837:Atp1a3 UTSW 7 24,677,980 (GRCm39) missense probably damaging 1.00
R9031:Atp1a3 UTSW 7 24,689,212 (GRCm39) critical splice donor site probably null
R9220:Atp1a3 UTSW 7 24,696,625 (GRCm39) nonsense probably null
R9259:Atp1a3 UTSW 7 24,696,956 (GRCm39) missense probably damaging 1.00
R9600:Atp1a3 UTSW 7 24,700,027 (GRCm39) missense probably benign 0.00
Z1176:Atp1a3 UTSW 7 24,698,113 (GRCm39) missense probably benign 0.00
Z1177:Atp1a3 UTSW 7 24,679,544 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AGGCAATTGTGACAGTTGGATG -3'
(R):5'- GCCGGAAATACAATACTGACTGC -3'

Sequencing Primer
(F):5'- CAATTGTGACAGTTGGATGATGGGAG -3'
(R):5'- AGGGCTCTGGGTACTCGAG -3'
Posted On 2020-01-23