Incidental Mutation 'R0666:Atp1a3'
ID 62019
Institutional Source Beutler Lab
Gene Symbol Atp1a3
Ensembl Gene ENSMUSG00000040907
Gene Name ATPase, Na+/K+ transporting, alpha 3 polypeptide
Synonyms Atpa-2
MMRRC Submission 038851-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0666 (G1)
Quality Score 132
Status Validated
Chromosome 7
Chromosomal Location 24677592-24705383 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24689974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 482 (I482V)
Ref Sequence ENSEMBL: ENSMUSP00000099922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080882] [ENSMUST00000102858] [ENSMUST00000196684]
AlphaFold Q6PIC6
Predicted Effect probably benign
Transcript: ENSMUST00000080882
AA Change: I482V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000079691
Gene: ENSMUSG00000040907
AA Change: I482V

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 benign
Transcript: ENSMUST00000102858
AA Change: I482V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000099922
Gene: ENSMUSG00000040907
AA Change: I482V

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 noncoding transcript
Transcript: ENSMUST00000146595
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184595
Predicted Effect probably benign
Transcript: ENSMUST00000196684
AA Change: I495V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000143735
Gene: ENSMUSG00000040907
AA Change: I495V

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
Meta Mutation Damage Score 0.0675 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.7%
Validation Efficiency 100% (89/89)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 T A 12: 52,958,591 (GRCm39) V782E probably damaging Het
Atg9a A G 1: 75,161,734 (GRCm39) L604P probably damaging Het
Bltp2 T G 11: 78,178,813 (GRCm39) M2026R probably damaging Het
Bltp2 T A 11: 78,168,038 (GRCm39) L1491* probably null Het
Ccdc18 T G 5: 108,311,530 (GRCm39) V412G probably benign Het
Ccn6 T C 10: 39,027,285 (GRCm39) R316G probably benign Het
Cct6a A G 5: 129,871,449 (GRCm39) noncoding transcript Het
Clpx A G 9: 65,217,507 (GRCm39) N25S probably damaging Het
Cnpy2 T A 10: 128,162,894 (GRCm39) C171* probably null Het
Cntnap3 C T 13: 64,905,211 (GRCm39) D857N probably damaging Het
Col5a1 A G 2: 27,922,697 (GRCm39) Y255C probably damaging Het
Coro7 A T 16: 4,449,775 (GRCm39) F638Y possibly damaging Het
Cpd A G 11: 76,673,153 (GRCm39) F1331L probably damaging Het
Csmd1 A T 8: 16,119,063 (GRCm39) I1842N possibly damaging Het
Dgkg T A 16: 22,381,480 (GRCm39) D490V probably damaging Het
Dnah9 A T 11: 65,976,284 (GRCm39) M1255K probably benign Het
E2f1 A G 2: 154,402,849 (GRCm39) V306A probably benign Het
Entpd1 A G 19: 40,648,350 (GRCm39) probably benign Het
Esrrb T A 12: 86,552,676 (GRCm39) I222N probably benign Het
Flt4 G T 11: 49,516,274 (GRCm39) A126S possibly damaging Het
Galnt11 C T 5: 25,457,145 (GRCm39) T237I possibly damaging Het
Galnt2l A T 8: 122,997,727 (GRCm39) probably benign Het
Gbf1 A G 19: 46,250,983 (GRCm39) probably benign Het
H2-T9 T C 17: 36,438,726 (GRCm39) T222A possibly damaging Het
Herc1 T A 9: 66,392,170 (GRCm39) probably benign Het
Hsph1 T C 5: 149,554,967 (GRCm39) Y105C probably damaging Het
Il23r T C 6: 67,411,664 (GRCm39) T358A probably benign Het
Il2ra C T 2: 11,647,884 (GRCm39) probably benign Het
Kbtbd4 G T 2: 90,744,459 (GRCm39) probably benign Het
Kcnt1 A G 2: 25,781,255 (GRCm39) probably benign Het
Kng2 A G 16: 22,815,872 (GRCm39) probably benign Het
Lap3 C T 5: 45,669,270 (GRCm39) T473I possibly damaging Het
Lrrk2 T C 15: 91,641,273 (GRCm39) probably null Het
Map1s A G 8: 71,366,696 (GRCm39) N534D possibly damaging Het
Mtg1 G A 7: 139,724,257 (GRCm39) V122I probably benign Het
Myadm T A 7: 3,345,865 (GRCm39) I209K probably damaging Het
Ntsr2 G A 12: 16,703,981 (GRCm39) V75I probably benign Het
Or4b1b A T 2: 90,112,212 (GRCm39) S236T probably damaging Het
Or8u10 G A 2: 85,915,557 (GRCm39) A188V probably benign Het
Pfn1 T C 11: 70,545,192 (GRCm39) T39A probably benign Het
Pipox T A 11: 77,774,651 (GRCm39) K144M probably benign Het
Plekhh1 G A 12: 79,115,889 (GRCm39) E811K probably damaging Het
Pnpla3 T A 15: 84,063,506 (GRCm39) W295R probably benign Het
Prkacb T A 3: 146,457,273 (GRCm39) T136S probably damaging Het
Ralbp1 T A 17: 66,161,124 (GRCm39) N473I probably benign Het
Rbp4 G A 19: 38,106,908 (GRCm39) T127M probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rps3a1 G A 3: 86,045,424 (GRCm39) probably benign Het
Scg3 G T 9: 75,551,222 (GRCm39) Y429* probably null Het
Shisal2b G T 13: 104,994,862 (GRCm39) T95K possibly damaging Het
Spag5 T C 11: 78,204,222 (GRCm39) S492P probably damaging Het
St7 T A 6: 17,934,238 (GRCm39) M540K probably damaging Het
Stxbp3 C A 3: 108,712,618 (GRCm39) V281F possibly damaging Het
Sun5 A G 2: 153,700,968 (GRCm39) V242A possibly damaging Het
Susd5 G T 9: 113,924,852 (GRCm39) R245L possibly damaging Het
Syne2 A G 12: 75,969,787 (GRCm39) E954G probably damaging Het
Synpo2 A T 3: 122,907,708 (GRCm39) V536E probably damaging Het
Tas2r140 T C 6: 133,032,405 (GRCm39) I118V probably benign Het
Tbx18 C A 9: 87,606,462 (GRCm39) V228L probably benign Het
Tdrd9 T A 12: 111,974,014 (GRCm39) probably benign Het
Tektl1 C A 10: 78,586,381 (GRCm39) L223F probably benign Het
Tg T C 15: 66,609,370 (GRCm39) M310T probably benign Het
Ticam2 T A 18: 46,693,718 (GRCm39) D123V probably damaging Het
Timm23 A G 14: 31,920,993 (GRCm39) probably benign Het
Tinag C T 9: 76,912,969 (GRCm39) R280H probably benign Het
Topbp1 G A 9: 103,186,011 (GRCm39) R51K probably benign Het
Tor1b A G 2: 30,843,925 (GRCm39) I121V probably damaging Het
Tpmt C A 13: 47,185,930 (GRCm39) G148V probably damaging Het
Tubb1 A G 2: 174,299,548 (GRCm39) E410G probably damaging Het
Ubash3b C A 9: 40,958,360 (GRCm39) V7L possibly damaging Het
Ube2o C T 11: 116,433,661 (GRCm39) E686K probably damaging Het
Unc13d T A 11: 115,960,318 (GRCm39) probably benign Het
Vmn1r183 A T 7: 23,754,601 (GRCm39) M135L probably benign Het
Xkr8 T C 4: 132,459,649 (GRCm39) Y43C probably damaging Het
Zc3h4 T A 7: 16,168,697 (GRCm39) N935K unknown Het
Zc3h7a G A 16: 10,974,167 (GRCm39) probably benign Het
Zfp84 C T 7: 29,476,276 (GRCm39) H323Y probably damaging Het
Zfp873 G T 10: 81,896,595 (GRCm39) S442I possibly damaging Het
Zfp938 A G 10: 82,061,606 (GRCm39) L338P probably damaging 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
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
R8002:Atp1a3 UTSW 7 24,700,096 (GRCm39) missense probably damaging 1.00
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'- TCATGGTGCATTCTGACCCCAAC -3'
(R):5'- GCTGAATATCAACTCCTGCCAAGACAG -3'

Sequencing Primer
(F):5'- AGCTCAACCTGTTCCTGC -3'
(R):5'- ATGTCATCCAAGGGCAGC -3'
Posted On 2013-07-30