Incidental Mutation 'R6767:Atp8a2'
ID 532008
Institutional Source Beutler Lab
Gene Symbol Atp8a2
Ensembl Gene ENSMUSG00000021983
Gene Name ATPase, aminophospholipid transporter-like, class I, type 8A, member 2
Synonyms Ib, wl, agil
MMRRC Submission 044883-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.362) question?
Stock # R6767 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 59884980-60324363 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 60284171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 47 (F47S)
Ref Sequence ENSEMBL: ENSMUSP00000115592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080368] [ENSMUST00000131670] [ENSMUST00000145071]
AlphaFold P98200
Predicted Effect probably damaging
Transcript: ENSMUST00000080368
AA Change: F47S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000079238
Gene: ENSMUSG00000021983
AA Change: F47S

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 damaging
Transcript: ENSMUST00000131670
AA Change: F66S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000119395
Gene: ENSMUSG00000021983
AA Change: F66S

DomainStartEndE-ValueType
SCOP:d1eula_ 40 148 7e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000145071
AA Change: F47S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115592
Gene: ENSMUSG00000021983
AA Change: F47S

DomainStartEndE-ValueType
SCOP:d1eula_ 21 129 1e-6 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 95.9%
Validation Efficiency 100% (67/67)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l G A 8: 44,079,951 (GRCm39) T91I probably damaging Het
Ak7 A G 12: 105,732,866 (GRCm39) N537D probably damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
Cadps T A 14: 12,550,888 (GRCm38) T449S probably damaging Het
Ccdc33 C G 9: 57,940,527 (GRCm39) Q489H possibly damaging Het
Cd163 T G 6: 124,281,738 (GRCm39) S14A possibly damaging Het
Cemip G A 7: 83,647,832 (GRCm39) L83F probably damaging Het
Chrd C T 16: 20,557,376 (GRCm39) P665L probably benign Het
Cib4 T A 5: 30,691,589 (GRCm39) H44L probably benign Het
Clic1 T A 17: 35,272,029 (GRCm39) L99Q probably benign Het
Cnst C T 1: 179,437,519 (GRCm39) T361I possibly damaging Het
Dnah6 C A 6: 73,110,591 (GRCm39) V1613L probably benign Het
Dnajb8 T C 6: 88,199,634 (GRCm39) S57P probably damaging Het
Dyrk3 T C 1: 131,057,327 (GRCm39) H282R probably damaging Het
Fasn T C 11: 120,708,313 (GRCm39) I651V possibly damaging Het
Gas6 A G 8: 13,515,784 (GRCm39) S663P probably damaging Het
Gbp8 T C 5: 105,166,478 (GRCm39) M284V probably benign Het
Gm12695 T C 4: 96,650,933 (GRCm39) probably null Het
Gm6034 T A 17: 36,354,023 (GRCm39) M1K probably null Het
Gm9376 A G 14: 118,504,648 (GRCm39) T27A unknown Het
Grid2 A G 6: 63,907,999 (GRCm39) D213G probably benign Het
Gsdma3 A T 11: 98,528,710 (GRCm39) D388V possibly damaging Het
H4c2 T A 13: 23,941,005 (GRCm39) M1K probably null Het
Hdac9 T A 12: 34,337,528 (GRCm39) H716L probably damaging Het
Hivep1 T C 13: 42,308,203 (GRCm39) S148P probably damaging Het
Kctd1 T C 18: 15,195,232 (GRCm39) T464A possibly damaging Het
Kera A G 10: 97,445,034 (GRCm39) D131G possibly damaging Het
Kif2c C T 4: 117,035,385 (GRCm39) R21Q probably benign Het
Luc7l3 G T 11: 94,183,779 (GRCm39) D453E probably damaging Het
Mrpl9 A G 3: 94,357,528 (GRCm39) probably benign Het
Mtss1 T C 15: 58,825,430 (GRCm39) S257G probably benign Het
N4bp2 T C 5: 65,974,530 (GRCm39) F1467L probably damaging Het
Naa25 T C 5: 121,577,928 (GRCm39) V945A probably damaging Het
Nrg1 T C 8: 32,407,923 (GRCm39) I103M probably damaging Het
Or2w1b C T 13: 21,300,227 (GRCm39) R122C probably benign Het
Orm3 C T 4: 63,274,531 (GRCm39) T32I probably damaging Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Plch1 A T 3: 63,662,765 (GRCm39) M246K probably damaging Het
Pld4 A C 12: 112,730,549 (GRCm39) D144A possibly damaging Het
Prelp C A 1: 133,840,448 (GRCm39) V345L probably benign Het
Rnf121 A G 7: 101,672,619 (GRCm39) F238L probably damaging Het
Rnf40 A G 7: 127,195,757 (GRCm39) K667R possibly damaging Het
Scgb1b12 A T 7: 32,033,920 (GRCm39) N60I probably damaging Het
Serpina3n T G 12: 104,375,321 (GRCm39) V131G probably benign Het
Slc22a21 T C 11: 53,870,328 (GRCm39) Y119C probably damaging Het
Slc22a28 A G 19: 8,094,409 (GRCm39) F204S probably damaging Het
Smc6 T A 12: 11,321,821 (GRCm39) D29E possibly damaging Het
Smgc T A 15: 91,725,601 (GRCm39) F40Y possibly damaging Het
Sorcs3 G T 19: 48,702,010 (GRCm39) L630F probably damaging Het
Sphk1 A G 11: 116,426,982 (GRCm39) K306E possibly damaging Het
Spmip2 A T 3: 79,337,330 (GRCm39) D46V probably benign Het
Spsb1 C T 4: 149,991,301 (GRCm39) G89D probably damaging Het
Stat4 G T 1: 52,115,742 (GRCm39) M227I probably benign Het
Syngr4 A G 7: 45,536,915 (GRCm39) V116A possibly damaging Het
Tacc1 T C 8: 25,730,816 (GRCm39) M1V probably null Het
Tcf7l1 T G 6: 72,608,275 (GRCm39) K355Q probably damaging Het
Tmem192 T C 8: 65,416,888 (GRCm39) S36P probably damaging Het
Top3a G T 11: 60,641,579 (GRCm39) N368K possibly damaging Het
Tpk1 T A 6: 43,323,727 (GRCm39) I241F possibly damaging Het
Trappc10 A G 10: 78,029,345 (GRCm39) I1064T possibly damaging Het
Vmn1r18 T A 6: 57,367,206 (GRCm39) K116M probably damaging Het
Vmn2r40 A T 7: 8,923,139 (GRCm39) H407Q unknown Het
Vmn2r91 T A 17: 18,327,807 (GRCm39) L467H probably damaging Het
Wdr59 G T 8: 112,202,733 (GRCm39) S603R probably damaging Het
Wwc2 A G 8: 48,353,826 (GRCm39) Y103H possibly damaging Het
Zfp324 A C 7: 12,704,527 (GRCm39) K74N probably null Het
Zfyve16 A G 13: 92,644,707 (GRCm39) L1165P 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
IGL02999:Atp8a2 APN 14 60,162,571 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- ACCAAGATCAGGTCTGTCCC -3'
(R):5'- CCCATGGGAAAGTGGAATGTC -3'

Sequencing Primer
(F):5'- CCCCCTAGTGATAATTTGAGGAAG -3'
(R):5'- TCCATATCAAAGATTGAATTGCAAAC -3'
Posted On 2018-08-29