Incidental Mutation 'R2897:Atp1a4'
ID 260822
Institutional Source Beutler Lab
Gene Symbol Atp1a4
Ensembl Gene ENSMUSG00000007107
Gene Name ATPase, Na+/K+ transporting, alpha 4 polypeptide
Synonyms
MMRRC Submission 040485-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2897 (G1)
Quality Score 194
Status Validated
Chromosome 1
Chromosomal Location 172051080-172085981 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 172074257 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 332 (I332N)
Ref Sequence ENSEMBL: ENSMUSP00000106874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111243]
AlphaFold Q9WV27
Predicted Effect probably damaging
Transcript: ENSMUST00000111243
AA Change: I332N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106874
Gene: ENSMUSG00000007107
AA Change: I332N

DomainStartEndE-ValueType
low complexity region 33 50 N/A INTRINSIC
Cation_ATPase_N 51 125 1.22e-14 SMART
Pfam:E1-E2_ATPase 144 375 2.6e-59 PFAM
Pfam:Hydrolase 380 738 8.1e-19 PFAM
Pfam:HAD 383 735 1.6e-17 PFAM
Pfam:Cation_ATPase 437 531 9.2e-25 PFAM
Pfam:Cation_ATPase_C 808 1017 1.2e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193316
Meta Mutation Damage Score 0.7195 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 99% (72/73)
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 4 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Male mice homozygous for a knock-out allele exhibit infertility associated with asthenozoospermia and teratozoospermia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,471,640 (GRCm39) V1015A probably benign Het
4930480E11Rik C T X: 77,413,868 (GRCm39) Q198* probably null Het
Acap3 G C 4: 155,989,388 (GRCm39) probably null Het
Adamts14 T C 10: 61,040,689 (GRCm39) D879G probably damaging Het
Akap1 A T 11: 88,735,605 (GRCm39) C352* probably null Het
Ankk1 T A 9: 49,333,122 (GRCm39) T121S probably benign Het
Ankrd6 T C 4: 32,860,438 (GRCm39) S2G probably damaging Het
Anks1 G T 17: 28,204,337 (GRCm39) probably null Het
Apob G A 12: 8,060,356 (GRCm39) G2946D probably damaging Het
Atm A C 9: 53,419,105 (GRCm39) C782W probably damaging Het
Bnc2 T C 4: 84,211,152 (GRCm39) I406V probably damaging Het
Cdh20 A T 1: 104,875,199 (GRCm39) D327V probably damaging Het
Cep192 T A 18: 67,988,341 (GRCm39) probably null Het
Chd5 T C 4: 152,456,572 (GRCm39) F970L probably damaging Het
Coq9 T C 8: 95,579,752 (GRCm39) Y236H probably damaging Het
Csn1s2a A G 5: 87,929,680 (GRCm39) H93R unknown Het
Cxcr2 T C 1: 74,198,130 (GRCm39) V208A probably benign Het
Cyp1b1 G A 17: 80,021,160 (GRCm39) T194M probably benign Het
Dbt T A 3: 116,317,061 (GRCm39) V79E probably damaging Het
Dcx A G X: 142,706,428 (GRCm39) probably benign Het
Dnm3 G A 1: 162,113,643 (GRCm39) probably benign Het
Erbin C T 13: 104,022,705 (GRCm39) E45K probably damaging Het
Fastkd1 A G 2: 69,532,960 (GRCm39) L469P probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm10271 A G 10: 116,808,495 (GRCm39) L7S probably damaging Het
Gm5087 T C 14: 13,158,805 (GRCm38) noncoding transcript Het
Hid1 A G 11: 115,241,356 (GRCm39) S645P probably benign Het
Hmcn1 C T 1: 150,678,624 (GRCm39) C499Y probably damaging Het
Ifna1 C A 4: 88,768,450 (GRCm39) Q43K probably benign Het
Ikbkb G T 8: 23,159,693 (GRCm39) Q432K possibly damaging Het
Inpp4a A T 1: 37,405,675 (GRCm39) H148L probably benign Het
Itpr2 C T 6: 146,074,839 (GRCm39) R2338Q probably benign Het
Itpr2 A T 6: 146,224,667 (GRCm39) I1441N probably damaging Het
Krt78 T C 15: 101,855,541 (GRCm39) R757G probably benign Het
Lmx1a T A 1: 167,658,109 (GRCm39) probably benign Het
Lpxn T A 19: 12,796,722 (GRCm39) S81T probably benign Het
Lrriq1 T C 10: 103,063,111 (GRCm39) N65S probably damaging Het
Mis18bp1 T C 12: 65,180,360 (GRCm39) D981G probably benign Het
Mpp4 T C 1: 59,183,853 (GRCm39) I296V probably benign Het
Mtrf1l T C 10: 5,767,565 (GRCm39) R184G probably benign Het
Muc19 T C 15: 91,822,550 (GRCm39) noncoding transcript Het
Myo6 T A 9: 80,176,893 (GRCm39) probably null Het
Myom1 A G 17: 71,408,215 (GRCm39) probably benign Het
Ndrg4 A G 8: 96,405,014 (GRCm39) probably null Het
Neu2 A G 1: 87,522,782 (GRCm39) S72G probably benign Het
Nlrc4 T A 17: 74,755,040 (GRCm39) M59L probably benign Het
Nuak2 A T 1: 132,252,791 (GRCm39) H115L probably damaging Het
Oog1 T A 12: 87,655,178 (GRCm39) I272K probably damaging Het
Or10aa1 T C 1: 173,869,699 (GRCm39) F61S probably damaging Het
Or52a20 A T 7: 103,366,749 (GRCm39) Y316F probably benign Het
Pcdhb1 A G 18: 37,399,516 (GRCm39) Y489C probably damaging Het
Pde5a T C 3: 122,572,651 (GRCm39) I344T probably benign Het
Pip5kl1 C A 2: 32,473,359 (GRCm39) A332D probably benign Het
Pja1 T C X: 98,510,754 (GRCm39) E385G probably benign Het
Psma6 A T 12: 55,454,829 (GRCm39) I53L probably benign Het
Ric8b T G 10: 84,783,761 (GRCm39) D206E probably benign Het
Sardh T C 2: 27,079,559 (GRCm39) D911G probably benign Het
Serpinb8 A G 1: 107,534,776 (GRCm39) T32A unknown Het
Shroom2 G T X: 151,443,035 (GRCm39) T710K probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc38a7 A G 8: 96,572,424 (GRCm39) probably benign Het
Stk36 T A 1: 74,671,984 (GRCm39) S895T probably null Het
Sycp3 G A 10: 88,308,544 (GRCm39) E205K possibly damaging Het
Tbc1d16 A T 11: 119,048,654 (GRCm39) I333N probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Tmeff1 T A 4: 48,658,831 (GRCm39) Y101* probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Ttn T A 2: 76,549,500 (GRCm39) T23399S probably damaging Het
Vipas39 A G 12: 87,289,297 (GRCm39) V389A possibly damaging Het
Vps41 T C 13: 18,994,598 (GRCm39) probably benign Het
Zfp329 A T 7: 12,544,413 (GRCm39) H370Q probably damaging Het
Zfp37 C T 4: 62,110,014 (GRCm39) G350D probably damaging Het
Other mutations in Atp1a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00419:Atp1a4 APN 1 172,067,373 (GRCm39) missense probably damaging 1.00
IGL00924:Atp1a4 APN 1 172,074,339 (GRCm39) missense probably damaging 1.00
IGL01288:Atp1a4 APN 1 172,085,474 (GRCm39) missense possibly damaging 0.77
IGL01665:Atp1a4 APN 1 172,074,291 (GRCm39) missense probably benign
IGL02156:Atp1a4 APN 1 172,085,529 (GRCm39) missense probably benign
IGL02170:Atp1a4 APN 1 172,062,103 (GRCm39) missense possibly damaging 0.94
IGL02228:Atp1a4 APN 1 172,082,452 (GRCm39) missense possibly damaging 0.69
IGL02505:Atp1a4 APN 1 172,062,642 (GRCm39) missense probably damaging 1.00
IGL02653:Atp1a4 APN 1 172,078,973 (GRCm39) missense possibly damaging 0.81
IGL02792:Atp1a4 APN 1 172,054,866 (GRCm39) critical splice donor site probably null
IGL02794:Atp1a4 APN 1 172,071,653 (GRCm39) missense probably benign 0.13
IGL03102:Atp1a4 APN 1 172,058,718 (GRCm39) missense probably damaging 1.00
R0046:Atp1a4 UTSW 1 172,067,664 (GRCm39) missense probably benign 0.09
R0046:Atp1a4 UTSW 1 172,067,664 (GRCm39) missense probably benign 0.09
R0276:Atp1a4 UTSW 1 172,085,468 (GRCm39) missense probably damaging 1.00
R0309:Atp1a4 UTSW 1 172,062,554 (GRCm39) missense probably damaging 1.00
R0525:Atp1a4 UTSW 1 172,067,255 (GRCm39) splice site probably benign
R0615:Atp1a4 UTSW 1 172,059,627 (GRCm39) splice site probably benign
R0730:Atp1a4 UTSW 1 172,067,774 (GRCm39) splice site probably benign
R1412:Atp1a4 UTSW 1 172,059,576 (GRCm39) missense probably damaging 0.97
R1652:Atp1a4 UTSW 1 172,082,470 (GRCm39) missense probably damaging 1.00
R1898:Atp1a4 UTSW 1 172,062,615 (GRCm39) missense probably damaging 0.99
R1968:Atp1a4 UTSW 1 172,067,731 (GRCm39) missense probably benign
R2291:Atp1a4 UTSW 1 172,072,473 (GRCm39) missense probably damaging 1.00
R2908:Atp1a4 UTSW 1 172,062,044 (GRCm39) missense probably benign
R3119:Atp1a4 UTSW 1 172,067,393 (GRCm39) missense probably damaging 0.99
R3731:Atp1a4 UTSW 1 172,061,528 (GRCm39) missense probably damaging 1.00
R4447:Atp1a4 UTSW 1 172,061,998 (GRCm39) missense probably damaging 0.99
R4602:Atp1a4 UTSW 1 172,067,332 (GRCm39) missense probably damaging 1.00
R4670:Atp1a4 UTSW 1 172,062,567 (GRCm39) missense probably benign 0.07
R4674:Atp1a4 UTSW 1 172,085,223 (GRCm39) missense possibly damaging 0.81
R4675:Atp1a4 UTSW 1 172,085,223 (GRCm39) missense possibly damaging 0.81
R4785:Atp1a4 UTSW 1 172,081,677 (GRCm39) nonsense probably null
R4958:Atp1a4 UTSW 1 172,058,718 (GRCm39) missense probably damaging 1.00
R5015:Atp1a4 UTSW 1 172,081,649 (GRCm39) missense probably damaging 1.00
R5149:Atp1a4 UTSW 1 172,059,572 (GRCm39) missense probably damaging 1.00
R5234:Atp1a4 UTSW 1 172,054,737 (GRCm39) missense possibly damaging 0.73
R5501:Atp1a4 UTSW 1 172,074,399 (GRCm39) missense probably damaging 1.00
R5682:Atp1a4 UTSW 1 172,081,730 (GRCm39) missense probably damaging 0.99
R5872:Atp1a4 UTSW 1 172,071,975 (GRCm39) missense probably damaging 1.00
R5933:Atp1a4 UTSW 1 172,059,841 (GRCm39) missense possibly damaging 0.91
R6722:Atp1a4 UTSW 1 172,085,617 (GRCm39) unclassified probably benign
R7087:Atp1a4 UTSW 1 172,074,269 (GRCm39) missense probably damaging 1.00
R7122:Atp1a4 UTSW 1 172,059,503 (GRCm39) missense possibly damaging 0.47
R7381:Atp1a4 UTSW 1 172,067,682 (GRCm39) missense possibly damaging 0.70
R7431:Atp1a4 UTSW 1 172,078,474 (GRCm39) missense probably benign 0.31
R8269:Atp1a4 UTSW 1 172,059,892 (GRCm39) missense probably damaging 1.00
R8400:Atp1a4 UTSW 1 172,062,061 (GRCm39) missense probably damaging 1.00
R8559:Atp1a4 UTSW 1 172,078,897 (GRCm39) missense probably damaging 1.00
R8680:Atp1a4 UTSW 1 172,078,566 (GRCm39) missense probably damaging 1.00
R8777:Atp1a4 UTSW 1 172,059,869 (GRCm39) missense probably damaging 1.00
R8777-TAIL:Atp1a4 UTSW 1 172,059,869 (GRCm39) missense probably damaging 1.00
R8867:Atp1a4 UTSW 1 172,072,491 (GRCm39) missense probably damaging 0.99
R8869:Atp1a4 UTSW 1 172,054,690 (GRCm39) missense probably benign
R9260:Atp1a4 UTSW 1 172,074,359 (GRCm39) missense probably damaging 1.00
R9300:Atp1a4 UTSW 1 172,067,398 (GRCm39) missense probably damaging 1.00
R9545:Atp1a4 UTSW 1 172,078,464 (GRCm39) missense probably benign 0.35
Z1176:Atp1a4 UTSW 1 172,059,521 (GRCm39) missense probably benign 0.44
Predicted Primers PCR Primer
(F):5'- TCTGACGCTTCTATGTATCTCAGG -3'
(R):5'- GAACAGCTCGGGGTATTGTG -3'

Sequencing Primer
(F):5'- GGATACCCCTCACTTCAGATG -3'
(R):5'- TGTGATTGCTACAGGAGACTACAC -3'
Posted On 2015-01-23