Incidental Mutation 'IGL02795:Atp8a2'
ID 359928
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 wl, Ib
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.339) question?
Stock # IGL02795
Quality Score
Status
Chromosome 14
Chromosomal Location 59638540-60197179 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 60033742 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 247 (V247M)
Ref Sequence ENSEMBL: ENSMUSP00000079238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080368] [ENSMUST00000145071]
AlphaFold P98200
Predicted Effect probably damaging
Transcript: ENSMUST00000080368
AA Change: V247M

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000079238
Gene: ENSMUSG00000021983
AA Change: V247M

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
Predicted Effect probably benign
Transcript: ENSMUST00000145071
SMART Domains Protein: ENSMUSP00000115592
Gene: ENSMUSG00000021983

DomainStartEndE-ValueType
SCOP:d1eula_ 21 129 1e-6 SMART
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,288,748 (GRCm38) L1391P probably damaging Het
Abcc3 G A 11: 94,361,642 (GRCm38) probably benign Het
Acvr1 A G 2: 58,462,952 (GRCm38) I332T probably damaging Het
Btn1a1 T C 13: 23,460,616 (GRCm38) probably null Het
Btnl9 A T 11: 49,174,867 (GRCm38) probably benign Het
Dbx1 T A 7: 49,636,577 (GRCm38) I47F probably benign Het
Dnaja3 A G 16: 4,690,073 (GRCm38) probably benign Het
Dnmt1 T C 9: 20,927,111 (GRCm38) S220G probably benign Het
Dock9 A T 14: 121,639,978 (GRCm38) M451K probably benign Het
Eml3 A G 19: 8,933,778 (GRCm38) Y257C probably benign Het
Fbxw19 C A 9: 109,495,818 (GRCm38) M10I possibly damaging Het
Flg2 C T 3: 93,203,613 (GRCm38) R983W unknown Het
Galnt5 C A 2: 58,027,871 (GRCm38) P707H probably damaging Het
Gba2 G T 4: 43,578,331 (GRCm38) P6Q probably damaging Het
Gm13199 A G 2: 5,862,673 (GRCm38) probably benign Het
Gpr45 C T 1: 43,032,493 (GRCm38) R99C possibly damaging Het
Hecw1 G A 13: 14,322,517 (GRCm38) S302L probably damaging Het
Hrg T C 16: 22,957,553 (GRCm38) probably benign Het
Kdelc2 A G 9: 53,392,105 (GRCm38) D99G probably damaging Het
Lama1 A G 17: 67,738,894 (GRCm38) probably null Het
Lgr4 T C 2: 110,008,210 (GRCm38) probably benign Het
Lrrc9 C T 12: 72,478,768 (GRCm38) T830M probably damaging Het
Mdga2 T C 12: 66,689,432 (GRCm38) T341A probably benign Het
Mms19 C T 19: 41,952,406 (GRCm38) probably null Het
Nectin1 A G 9: 43,803,552 (GRCm38) S362G probably benign Het
Nlrc3 G T 16: 3,965,285 (GRCm38) H87N probably damaging Het
Oit1 T A 14: 8,355,497 (GRCm38) M113L probably benign Het
Olfr1018 T A 2: 85,823,512 (GRCm38) C180* probably null Het
Olfr142 A G 2: 90,252,562 (GRCm38) L142P probably damaging Het
Olfr183 G T 16: 59,000,277 (GRCm38) L197F possibly damaging Het
Olfr23 G A 11: 73,940,929 (GRCm38) V228I probably benign Het
Olfr243 T A 7: 103,716,883 (GRCm38) F96L probably benign Het
Pcsk1 G T 13: 75,112,620 (GRCm38) G321C probably damaging Het
Prrc2c G T 1: 162,714,299 (GRCm38) P374T probably benign Het
Rusc1 A T 3: 89,091,950 (GRCm38) L175Q probably damaging Het
Ryr2 T C 13: 11,595,190 (GRCm38) N4250S probably benign Het
Scara5 A C 14: 65,730,680 (GRCm38) N134T possibly damaging Het
Sema4d T C 13: 51,703,411 (GRCm38) K595R probably benign Het
Serpinb6a A C 13: 33,931,593 (GRCm38) L15R probably damaging Het
Setdb1 A T 3: 95,327,373 (GRCm38) N1006K probably damaging Het
Slc18a2 G A 19: 59,274,490 (GRCm38) probably benign Het
Slc22a30 C T 19: 8,400,895 (GRCm38) C139Y probably damaging Het
Slc25a27 T A 17: 43,647,112 (GRCm38) Y269F probably damaging Het
Slc9c1 A T 16: 45,575,419 (GRCm38) D611V probably benign Het
Spag6 G T 2: 18,733,083 (GRCm38) V255F probably benign Het
St5 T C 7: 109,556,364 (GRCm38) Y393C probably damaging Het
Svep1 C A 4: 58,123,223 (GRCm38) G698W probably damaging Het
Syne2 T C 12: 75,966,549 (GRCm38) L2839P probably damaging Het
Tfb2m T C 1: 179,545,959 (GRCm38) E58G possibly damaging Het
Trim24 A T 6: 37,919,389 (GRCm38) E260D probably damaging Het
Ugt2b1 T A 5: 86,917,701 (GRCm38) D493V probably damaging Het
Vmn1r27 A G 6: 58,215,302 (GRCm38) V189A possibly damaging Het
Vmn2r91 A G 17: 18,085,277 (GRCm38) Q74R probably benign Het
Vps25 A G 11: 101,256,090 (GRCm38) Y64C probably damaging Het
Xirp2 G A 2: 67,509,136 (GRCm38) G574S probably damaging Het
Ythdc2 A G 18: 44,837,438 (GRCm38) E273G possibly damaging Het
Other mutations in Atp8a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01289:Atp8a2 APN 14 59,691,461 (GRCm38) missense probably benign 0.00
IGL01505:Atp8a2 APN 14 60,028,063 (GRCm38) missense probably benign 0.00
IGL01614:Atp8a2 APN 14 60,044,988 (GRCm38) missense probably damaging 0.99
IGL01621:Atp8a2 APN 14 60,015,868 (GRCm38) splice site probably benign
IGL01634:Atp8a2 APN 14 59,998,062 (GRCm38) missense probably benign 0.01
IGL01672:Atp8a2 APN 14 59,691,533 (GRCm38) missense probably benign 0.01
IGL01898:Atp8a2 APN 14 60,023,513 (GRCm38) missense probably damaging 1.00
IGL01945:Atp8a2 APN 14 60,026,160 (GRCm38) missense probably damaging 1.00
IGL02006:Atp8a2 APN 14 59,857,048 (GRCm38) missense possibly damaging 0.90
IGL02089:Atp8a2 APN 14 60,026,920 (GRCm38) splice site probably null
IGL02211:Atp8a2 APN 14 60,027,976 (GRCm38) missense probably benign 0.00
IGL02283:Atp8a2 APN 14 60,016,799 (GRCm38) missense possibly damaging 0.86
IGL02337:Atp8a2 APN 14 59,998,002 (GRCm38) missense probably benign 0.32
IGL02571:Atp8a2 APN 14 60,012,458 (GRCm38) splice site probably benign
IGL02874:Atp8a2 APN 14 59,802,252 (GRCm38) missense probably damaging 1.00
IGL02999:Atp8a2 APN 14 59,925,122 (GRCm38) nonsense probably null
IGL03307:Atp8a2 APN 14 60,015,872 (GRCm38) critical splice donor site probably null
IGL03345:Atp8a2 APN 14 59,774,011 (GRCm38) missense probably benign
PIT4431001:Atp8a2 UTSW 14 59,654,626 (GRCm38) missense probably benign
R0334:Atp8a2 UTSW 14 59,691,512 (GRCm38) missense probably damaging 1.00
R0368:Atp8a2 UTSW 14 59,860,212 (GRCm38) missense probably damaging 1.00
R0420:Atp8a2 UTSW 14 59,773,744 (GRCm38) missense probably damaging 1.00
R0684:Atp8a2 UTSW 14 60,023,144 (GRCm38) missense probably benign 0.00
R0755:Atp8a2 UTSW 14 60,009,881 (GRCm38) missense possibly damaging 0.96
R0853:Atp8a2 UTSW 14 59,860,270 (GRCm38) missense probably benign 0.01
R0908:Atp8a2 UTSW 14 59,860,270 (GRCm38) missense probably benign 0.01
R0991:Atp8a2 UTSW 14 59,793,929 (GRCm38) missense probably benign 0.33
R1025:Atp8a2 UTSW 14 59,860,270 (GRCm38) missense probably benign 0.01
R1190:Atp8a2 UTSW 14 59,860,270 (GRCm38) missense probably benign 0.01
R1387:Atp8a2 UTSW 14 59,860,270 (GRCm38) missense probably benign 0.01
R1426:Atp8a2 UTSW 14 59,860,270 (GRCm38) missense probably benign 0.01
R1442:Atp8a2 UTSW 14 59,860,323 (GRCm38) splice site probably benign
R1472:Atp8a2 UTSW 14 59,860,270 (GRCm38) missense probably benign 0.01
R1538:Atp8a2 UTSW 14 59,860,270 (GRCm38) missense probably benign 0.01
R1573:Atp8a2 UTSW 14 59,860,206 (GRCm38) missense probably benign 0.00
R1620:Atp8a2 UTSW 14 59,791,183 (GRCm38) missense probably benign
R1661:Atp8a2 UTSW 14 59,860,186 (GRCm38) missense possibly damaging 0.80
R1673:Atp8a2 UTSW 14 59,791,240 (GRCm38) missense probably benign 0.00
R1749:Atp8a2 UTSW 14 59,860,174 (GRCm38) nonsense probably null
R1796:Atp8a2 UTSW 14 60,020,758 (GRCm38) critical splice donor site probably null
R1815:Atp8a2 UTSW 14 60,086,624 (GRCm38) missense probably damaging 1.00
R1836:Atp8a2 UTSW 14 60,006,366 (GRCm38) missense possibly damaging 0.49
R1935:Atp8a2 UTSW 14 59,860,270 (GRCm38) missense probably benign 0.01
R1936:Atp8a2 UTSW 14 59,860,270 (GRCm38) missense probably benign 0.01
R1937:Atp8a2 UTSW 14 59,860,270 (GRCm38) missense probably benign 0.01
R2416:Atp8a2 UTSW 14 59,925,008 (GRCm38) missense probably damaging 1.00
R2760:Atp8a2 UTSW 14 59,860,192 (GRCm38) missense probably benign 0.43
R3029:Atp8a2 UTSW 14 59,691,465 (GRCm38) frame shift probably null
R3621:Atp8a2 UTSW 14 60,026,138 (GRCm38) splice site probably null
R3768:Atp8a2 UTSW 14 60,044,336 (GRCm38) missense probably benign 0.19
R3784:Atp8a2 UTSW 14 59,773,966 (GRCm38) missense probably damaging 1.00
R3896:Atp8a2 UTSW 14 60,026,140 (GRCm38) critical splice donor site probably null
R4009:Atp8a2 UTSW 14 60,027,985 (GRCm38) missense possibly damaging 0.54
R4591:Atp8a2 UTSW 14 59,654,629 (GRCm38) missense probably benign 0.03
R4866:Atp8a2 UTSW 14 59,691,467 (GRCm38) missense probably damaging 1.00
R4879:Atp8a2 UTSW 14 60,008,469 (GRCm38) nonsense probably null
R5059:Atp8a2 UTSW 14 59,691,537 (GRCm38) missense probably benign 0.00
R5529:Atp8a2 UTSW 14 59,793,865 (GRCm38) critical splice donor site probably null
R5788:Atp8a2 UTSW 14 60,020,793 (GRCm38) missense probably damaging 0.96
R6126:Atp8a2 UTSW 14 60,044,326 (GRCm38) missense probably benign
R6295:Atp8a2 UTSW 14 60,012,399 (GRCm38) nonsense probably null
R6393:Atp8a2 UTSW 14 59,773,755 (GRCm38) nonsense probably null
R6454:Atp8a2 UTSW 14 60,008,499 (GRCm38) splice site probably null
R6651:Atp8a2 UTSW 14 59,774,021 (GRCm38) missense probably benign 0.00
R6763:Atp8a2 UTSW 14 60,008,408 (GRCm38) missense probably benign 0.12
R6767:Atp8a2 UTSW 14 60,046,722 (GRCm38) missense probably damaging 1.00
R6912:Atp8a2 UTSW 14 60,012,410 (GRCm38) missense probably benign 0.33
R7032:Atp8a2 UTSW 14 60,017,840 (GRCm38) splice site probably null
R7243:Atp8a2 UTSW 14 59,647,842 (GRCm38) missense probably benign
R7352:Atp8a2 UTSW 14 59,791,204 (GRCm38) missense probably benign
R7355:Atp8a2 UTSW 14 60,045,004 (GRCm38) missense possibly damaging 0.65
R7382:Atp8a2 UTSW 14 59,654,594 (GRCm38) missense probably benign 0.00
R7451:Atp8a2 UTSW 14 59,791,181 (GRCm38) missense probably null 0.00
R7483:Atp8a2 UTSW 14 60,008,375 (GRCm38) missense probably benign 0.00
R7516:Atp8a2 UTSW 14 59,857,067 (GRCm38) missense probably damaging 1.00
R7831:Atp8a2 UTSW 14 59,773,753 (GRCm38) missense probably damaging 0.99
R8116:Atp8a2 UTSW 14 60,026,208 (GRCm38) missense probably damaging 1.00
R8171:Atp8a2 UTSW 14 60,046,044 (GRCm38) missense probably damaging 1.00
R8504:Atp8a2 UTSW 14 59,647,917 (GRCm38) nonsense probably null
R8516:Atp8a2 UTSW 14 59,691,472 (GRCm38) missense probably benign 0.00
R8552:Atp8a2 UTSW 14 59,773,982 (GRCm38) missense probably benign 0.00
R8852:Atp8a2 UTSW 14 59,925,096 (GRCm38) missense probably damaging 1.00
R9367:Atp8a2 UTSW 14 60,012,378 (GRCm38) critical splice donor site probably null
R9469:Atp8a2 UTSW 14 59,791,219 (GRCm38) missense probably benign 0.32
R9691:Atp8a2 UTSW 14 60,008,380 (GRCm38) missense probably damaging 0.96
R9709:Atp8a2 UTSW 14 60,033,738 (GRCm38) missense probably damaging 0.98
Z1088:Atp8a2 UTSW 14 60,027,970 (GRCm38) missense probably benign
Z1177:Atp8a2 UTSW 14 60,006,330 (GRCm38) missense possibly damaging 0.93
Posted On 2015-12-18