Incidental Mutation 'IGL02999:Atp8a2'
ID 407245
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp8a2
Ensembl Gene ENSMUSG00000021983
Gene Name ATPase, aminophospholipid transporter-like, class I, type 8A, member 2
Synonyms Ib, wl, agil
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.348) question?
Stock # IGL02999
Quality Score
Status
Chromosome 14
Chromosomal Location 59884980-60324363 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 60162571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 717 (E717*)
Ref Sequence ENSEMBL: ENSMUSP00000079238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080368]
AlphaFold P98200
Predicted Effect probably null
Transcript: ENSMUST00000080368
AA Change: E717*
SMART Domains Protein: ENSMUSP00000079238
Gene: ENSMUSG00000021983
AA Change: E717*

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_N 14 80 2.3e-27 PFAM
Pfam:E1-E2_ATPase 85 348 6.7e-15 PFAM
Pfam:HAD 385 790 3.2e-22 PFAM
Pfam:Cation_ATPase 465 564 3.2e-14 PFAM
Pfam:PhoLip_ATPase_C 807 1059 2.8e-79 PFAM
Coding Region Coverage
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 is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ). In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygotes for spontaneous mutations have abnormal gait and tremors, with axonal degeneration in central and peripheral neurons. Symptoms progress to immobility and death by 1-month of age. Heterozygotes show subtle locomotor abnormalities and are hyporesponsive to tail pinching. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T A 10: 78,903,424 (GRCm39) R297S possibly damaging Het
Abca13 G A 11: 9,531,757 (GRCm39) probably benign Het
Acot12 T A 13: 91,908,100 (GRCm39) V94D probably damaging Het
Adgrv1 C T 13: 81,726,973 (GRCm39) A460T probably benign Het
Brinp3 A T 1: 146,577,587 (GRCm39) probably null Het
Camk1d C A 2: 5,359,516 (GRCm39) V177L probably benign Het
Chst11 A G 10: 83,027,538 (GRCm39) I322V possibly damaging Het
Cobl T C 11: 12,293,869 (GRCm39) T296A possibly damaging Het
Dcc A C 18: 71,511,749 (GRCm39) F869V possibly damaging Het
Dock2 G T 11: 34,583,086 (GRCm39) T609K probably damaging Het
Ercc5 A G 1: 44,206,814 (GRCm39) T576A probably benign Het
Faf1 A G 4: 109,719,090 (GRCm39) I399V probably benign Het
Fndc3b T G 3: 27,592,388 (GRCm39) E170A probably damaging Het
Ggt7 C A 2: 155,344,633 (GRCm39) V237L probably benign Het
Hectd1 G T 12: 51,874,205 (GRCm39) Q24K possibly damaging Het
Krt19 T C 11: 100,032,235 (GRCm39) probably benign Het
Lilrb4a T C 10: 51,370,239 (GRCm39) L259P probably damaging Het
Limd1 T C 9: 123,345,864 (GRCm39) Y548H probably damaging Het
Lingo2 A G 4: 35,708,744 (GRCm39) I412T probably damaging Het
Lrrc34 T A 3: 30,688,782 (GRCm39) Q173L probably damaging Het
Lrrn3 A T 12: 41,502,750 (GRCm39) N522K probably benign Het
Mgat4e A C 1: 134,468,928 (GRCm39) L372R probably damaging Het
Nedd4l A G 18: 65,331,778 (GRCm39) D638G probably damaging Het
Olfm3 T C 3: 114,916,397 (GRCm39) M423T probably damaging Het
Or8g54 T C 9: 39,706,752 (GRCm39) L27P probably damaging Het
Pcsk7 T A 9: 45,838,897 (GRCm39) I603N possibly damaging Het
Ptpn2 A G 18: 67,814,580 (GRCm39) V143A probably damaging Het
Rabgap1 C A 2: 37,373,838 (GRCm39) D283E possibly damaging Het
Reln G A 5: 22,200,363 (GRCm39) S1379F probably damaging Het
Rpap2 T A 5: 107,749,697 (GRCm39) F74I possibly damaging Het
Sel1l2 T C 2: 140,072,724 (GRCm39) E637G probably damaging Het
Slc28a2b T C 2: 122,344,995 (GRCm39) probably benign Het
St18 T A 1: 6,887,829 (GRCm39) V466E probably benign Het
Stac C A 9: 111,433,198 (GRCm39) G207C probably damaging Het
Stra6 T A 9: 58,042,396 (GRCm39) N8K probably benign Het
Sytl4 C T X: 132,838,727 (GRCm39) R649Q probably benign Het
Tas1r3 A G 4: 155,946,816 (GRCm39) V263A probably damaging Het
Tprg1 T C 16: 25,136,218 (GRCm39) Y70H probably damaging Het
Other mutations in Atp8a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01289:Atp8a2 APN 14 59,928,910 (GRCm39) missense probably benign 0.00
IGL01505:Atp8a2 APN 14 60,265,512 (GRCm39) missense probably benign 0.00
IGL01614:Atp8a2 APN 14 60,282,437 (GRCm39) missense probably damaging 0.99
IGL01621:Atp8a2 APN 14 60,253,317 (GRCm39) splice site probably benign
IGL01634:Atp8a2 APN 14 60,235,511 (GRCm39) missense probably benign 0.01
IGL01672:Atp8a2 APN 14 59,928,982 (GRCm39) missense probably benign 0.01
IGL01898:Atp8a2 APN 14 60,260,962 (GRCm39) missense probably damaging 1.00
IGL01945:Atp8a2 APN 14 60,263,609 (GRCm39) missense probably damaging 1.00
IGL02006:Atp8a2 APN 14 60,094,497 (GRCm39) missense possibly damaging 0.90
IGL02089:Atp8a2 APN 14 60,264,369 (GRCm39) splice site probably null
IGL02211:Atp8a2 APN 14 60,265,425 (GRCm39) missense probably benign 0.00
IGL02283:Atp8a2 APN 14 60,254,248 (GRCm39) missense possibly damaging 0.86
IGL02337:Atp8a2 APN 14 60,235,451 (GRCm39) missense probably benign 0.32
IGL02571:Atp8a2 APN 14 60,249,907 (GRCm39) splice site probably benign
IGL02795:Atp8a2 APN 14 60,271,191 (GRCm39) missense probably damaging 0.96
IGL02874:Atp8a2 APN 14 60,039,701 (GRCm39) missense probably damaging 1.00
IGL03307:Atp8a2 APN 14 60,253,321 (GRCm39) critical splice donor site probably null
IGL03345:Atp8a2 APN 14 60,011,460 (GRCm39) missense probably benign
PIT4431001:Atp8a2 UTSW 14 59,892,075 (GRCm39) missense probably benign
R0334:Atp8a2 UTSW 14 59,928,961 (GRCm39) missense probably damaging 1.00
R0368:Atp8a2 UTSW 14 60,097,661 (GRCm39) missense probably damaging 1.00
R0420:Atp8a2 UTSW 14 60,011,193 (GRCm39) missense probably damaging 1.00
R0684:Atp8a2 UTSW 14 60,260,593 (GRCm39) missense probably benign 0.00
R0755:Atp8a2 UTSW 14 60,247,330 (GRCm39) missense possibly damaging 0.96
R0853:Atp8a2 UTSW 14 60,097,719 (GRCm39) missense probably benign 0.01
R0908:Atp8a2 UTSW 14 60,097,719 (GRCm39) missense probably benign 0.01
R0991:Atp8a2 UTSW 14 60,031,378 (GRCm39) missense probably benign 0.33
R1025:Atp8a2 UTSW 14 60,097,719 (GRCm39) missense probably benign 0.01
R1190:Atp8a2 UTSW 14 60,097,719 (GRCm39) missense probably benign 0.01
R1387:Atp8a2 UTSW 14 60,097,719 (GRCm39) missense probably benign 0.01
R1426:Atp8a2 UTSW 14 60,097,719 (GRCm39) missense probably benign 0.01
R1442:Atp8a2 UTSW 14 60,097,772 (GRCm39) splice site probably benign
R1472:Atp8a2 UTSW 14 60,097,719 (GRCm39) missense probably benign 0.01
R1538:Atp8a2 UTSW 14 60,097,719 (GRCm39) missense probably benign 0.01
R1573:Atp8a2 UTSW 14 60,097,655 (GRCm39) missense probably benign 0.00
R1620:Atp8a2 UTSW 14 60,028,632 (GRCm39) missense probably benign
R1661:Atp8a2 UTSW 14 60,097,635 (GRCm39) missense possibly damaging 0.80
R1673:Atp8a2 UTSW 14 60,028,689 (GRCm39) missense probably benign 0.00
R1749:Atp8a2 UTSW 14 60,097,623 (GRCm39) nonsense probably null
R1796:Atp8a2 UTSW 14 60,258,207 (GRCm39) critical splice donor site probably null
R1815:Atp8a2 UTSW 14 60,324,073 (GRCm39) missense probably damaging 1.00
R1836:Atp8a2 UTSW 14 60,243,815 (GRCm39) missense possibly damaging 0.49
R1935:Atp8a2 UTSW 14 60,097,719 (GRCm39) missense probably benign 0.01
R1936:Atp8a2 UTSW 14 60,097,719 (GRCm39) missense probably benign 0.01
R1937:Atp8a2 UTSW 14 60,097,719 (GRCm39) missense probably benign 0.01
R2416:Atp8a2 UTSW 14 60,162,457 (GRCm39) missense probably damaging 1.00
R2760:Atp8a2 UTSW 14 60,097,641 (GRCm39) missense probably benign 0.43
R3029:Atp8a2 UTSW 14 59,928,914 (GRCm39) frame shift probably null
R3621:Atp8a2 UTSW 14 60,263,587 (GRCm39) splice site probably null
R3768:Atp8a2 UTSW 14 60,281,785 (GRCm39) missense probably benign 0.19
R3784:Atp8a2 UTSW 14 60,011,415 (GRCm39) missense probably damaging 1.00
R3896:Atp8a2 UTSW 14 60,263,589 (GRCm39) critical splice donor site probably null
R4009:Atp8a2 UTSW 14 60,265,434 (GRCm39) missense possibly damaging 0.54
R4591:Atp8a2 UTSW 14 59,892,078 (GRCm39) missense probably benign 0.03
R4866:Atp8a2 UTSW 14 59,928,916 (GRCm39) missense probably damaging 1.00
R4879:Atp8a2 UTSW 14 60,245,918 (GRCm39) nonsense probably null
R5059:Atp8a2 UTSW 14 59,928,986 (GRCm39) missense probably benign 0.00
R5529:Atp8a2 UTSW 14 60,031,314 (GRCm39) critical splice donor site probably null
R5788:Atp8a2 UTSW 14 60,258,242 (GRCm39) missense probably damaging 0.96
R6126:Atp8a2 UTSW 14 60,281,775 (GRCm39) missense probably benign
R6295:Atp8a2 UTSW 14 60,249,848 (GRCm39) nonsense probably null
R6393:Atp8a2 UTSW 14 60,011,204 (GRCm39) nonsense probably null
R6454:Atp8a2 UTSW 14 60,245,948 (GRCm39) splice site probably null
R6651:Atp8a2 UTSW 14 60,011,470 (GRCm39) missense probably benign 0.00
R6763:Atp8a2 UTSW 14 60,245,857 (GRCm39) missense probably benign 0.12
R6767:Atp8a2 UTSW 14 60,284,171 (GRCm39) missense probably damaging 1.00
R6912:Atp8a2 UTSW 14 60,249,859 (GRCm39) missense probably benign 0.33
R7032:Atp8a2 UTSW 14 60,255,289 (GRCm39) splice site probably null
R7243:Atp8a2 UTSW 14 59,885,291 (GRCm39) missense probably benign
R7352:Atp8a2 UTSW 14 60,028,653 (GRCm39) missense probably benign
R7355:Atp8a2 UTSW 14 60,282,453 (GRCm39) missense possibly damaging 0.65
R7382:Atp8a2 UTSW 14 59,892,043 (GRCm39) missense probably benign 0.00
R7451:Atp8a2 UTSW 14 60,028,630 (GRCm39) missense probably null 0.00
R7483:Atp8a2 UTSW 14 60,245,824 (GRCm39) missense probably benign 0.00
R7516:Atp8a2 UTSW 14 60,094,516 (GRCm39) missense probably damaging 1.00
R7831:Atp8a2 UTSW 14 60,011,202 (GRCm39) missense probably damaging 0.99
R8116:Atp8a2 UTSW 14 60,263,657 (GRCm39) missense probably damaging 1.00
R8171:Atp8a2 UTSW 14 60,283,493 (GRCm39) missense probably damaging 1.00
R8504:Atp8a2 UTSW 14 59,885,366 (GRCm39) nonsense probably null
R8516:Atp8a2 UTSW 14 59,928,921 (GRCm39) missense probably benign 0.00
R8552:Atp8a2 UTSW 14 60,011,431 (GRCm39) missense probably benign 0.00
R8852:Atp8a2 UTSW 14 60,162,545 (GRCm39) missense probably damaging 1.00
R9367:Atp8a2 UTSW 14 60,249,827 (GRCm39) critical splice donor site probably null
R9469:Atp8a2 UTSW 14 60,028,668 (GRCm39) missense probably benign 0.32
R9691:Atp8a2 UTSW 14 60,245,829 (GRCm39) missense probably damaging 0.96
R9709:Atp8a2 UTSW 14 60,271,187 (GRCm39) missense probably damaging 0.98
Z1088:Atp8a2 UTSW 14 60,265,419 (GRCm39) missense probably benign
Z1177:Atp8a2 UTSW 14 60,243,779 (GRCm39) missense possibly damaging 0.93
Posted On 2016-08-02