Incidental Mutation 'PIT4431001:Atp8a2'
ID 555274
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.348) question?
Stock # PIT4431001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 59884980-60324363 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59892075 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1091 (D1091G)
Ref Sequence ENSEMBL: ENSMUSP00000079238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080368]
AlphaFold P98200
Predicted Effect probably benign
Transcript: ENSMUST00000080368
AA Change: D1091G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000079238
Gene: ENSMUSG00000021983
AA Change: D1091G

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
  • 1x: 93.2%
  • 3x: 90.7%
  • 10x: 84.7%
  • 20x: 71.4%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449I24Rik A G 5: 146,439,322 (GRCm39) I29V probably benign Het
5730455P16Rik C A 11: 80,254,750 (GRCm39) C357F probably damaging Het
Actr1a A T 19: 46,370,731 (GRCm39) probably null Het
Adcy1 C G 11: 7,014,089 (GRCm39) Q164E possibly damaging Het
Arhgap35 A T 7: 16,295,536 (GRCm39) S1176R possibly damaging Het
Atad2b A G 12: 5,081,795 (GRCm39) T1235A possibly damaging Het
Atosb C A 4: 43,036,024 (GRCm39) G236C probably damaging Het
Bmp6 T C 13: 38,669,906 (GRCm39) S397P probably benign Het
C3 A T 17: 57,513,242 (GRCm39) N1468K probably benign Het
Ccnjl CGCG CGCGGCG 11: 43,470,534 (GRCm39) probably benign Het
Ccr1 T C 9: 123,764,231 (GRCm39) I100V probably benign Het
Cep162 T A 9: 87,126,398 (GRCm39) R171S probably benign Het
Chd8 T C 14: 52,455,706 (GRCm39) H994R probably damaging Het
Cntn3 T A 6: 102,441,527 (GRCm39) K6N probably benign Het
Cope A G 8: 70,765,417 (GRCm39) E289G probably damaging Het
Cpne8 T G 15: 90,436,178 (GRCm39) E279A probably damaging Het
Cyp11a1 A T 9: 57,923,555 (GRCm39) probably null Het
Dcp2 A G 18: 44,545,638 (GRCm39) K333R probably benign Het
Dpp6 G T 5: 27,836,496 (GRCm39) V329F probably benign Het
Drc1 T A 5: 30,504,417 (GRCm39) D186E probably damaging Het
Dsc2 G A 18: 20,179,334 (GRCm39) Q245* probably null Het
Eef1e1 T C 13: 38,842,938 (GRCm39) E11G probably damaging Het
Emilin2 G A 17: 71,562,990 (GRCm39) P915S probably benign Het
Fpgt A G 3: 154,792,422 (GRCm39) M535T possibly damaging Het
Fxyd3 G A 7: 30,770,780 (GRCm39) L37F probably damaging Het
Gal3st2c T A 1: 93,935,834 (GRCm39) I62N probably damaging Het
Gdpd3 T C 7: 126,365,647 (GRCm39) I2T probably benign Het
Gm9611 T C 14: 42,115,888 (GRCm39) M169V Het
Ints3 G A 3: 90,303,767 (GRCm39) T720I probably damaging Het
Itpr2 T G 6: 146,256,218 (GRCm39) M992L probably benign Het
L3mbtl2 T A 15: 81,560,508 (GRCm39) H256Q probably benign Het
Lama2 T C 10: 26,977,426 (GRCm39) T1918A probably damaging Het
Lpcat2b G A 5: 107,581,997 (GRCm39) G442D probably damaging Het
Lrp1b C T 2: 40,894,767 (GRCm39) V2268M Het
Macc1 T C 12: 119,410,246 (GRCm39) L338P probably benign Het
Mtmr2 T C 9: 13,704,475 (GRCm39) F201L probably benign Het
Mtr C T 13: 12,227,329 (GRCm39) V772M probably damaging Het
Mtus2 A G 5: 148,013,515 (GRCm39) T103A probably benign Het
Myo5c A G 9: 75,159,853 (GRCm39) I294V possibly damaging Het
Ncam1 A T 9: 49,709,993 (GRCm39) F13I probably benign Het
Or4a75 T C 2: 89,448,201 (GRCm39) I112V probably benign Het
Paqr6 A T 3: 88,273,084 (GRCm39) I52F possibly damaging Het
Pde2a T G 7: 101,151,104 (GRCm39) V271G probably damaging Het
Pde7b T C 10: 20,276,291 (GRCm39) H405R possibly damaging Het
Plxnb1 A G 9: 108,929,786 (GRCm39) Y214C probably damaging Het
Pmp22 T C 11: 63,042,067 (GRCm39) F101L probably benign Het
Pold1 A G 7: 44,188,318 (GRCm39) L520P probably damaging Het
Pramel1 A G 4: 143,124,960 (GRCm39) T295A possibly damaging Het
Psg20 A T 7: 18,408,475 (GRCm39) I415N probably damaging Het
Ptcd2 T A 13: 99,476,527 (GRCm39) R71* probably null Het
Ptgs1 A T 2: 36,130,692 (GRCm39) N197I probably damaging Het
Rbfox3 T C 11: 118,386,047 (GRCm39) D333G probably damaging Het
Rfx7 T A 9: 72,525,253 (GRCm39) H814Q probably benign Het
Rptn TGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGACAAGACCTGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTCCTCACCTGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCGGGGTCAGAAAGGCAGGCAAGACCAGAGTCCTCACCAGGGTCAGAAAGGCAG TGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGACAAGACCTGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTCCTCACCTGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCGGGGTCAGAAAGGCAGGCAAGACCAGAGTCCTCACCAGGGTCAGAAAGGCAG 3: 93,304,704 (GRCm39) probably benign Het
Serpina3i A T 12: 104,231,432 (GRCm39) H23L probably benign Het
Sipa1l1 T A 12: 82,443,290 (GRCm39) V860E probably benign Het
Slc12a1 T A 2: 125,032,124 (GRCm39) Y592N possibly damaging Het
Slco2a1 T C 9: 102,927,467 (GRCm39) F120S probably damaging Het
Smyd4 T C 11: 75,294,339 (GRCm39) F740S probably damaging Het
Sppl2a T C 2: 126,765,396 (GRCm39) Y242C probably damaging Het
Sqle A G 15: 59,195,509 (GRCm39) K288R probably benign Het
Tbc1d17 A G 7: 44,494,498 (GRCm39) S246P probably benign Het
Tenm3 G A 8: 48,688,642 (GRCm39) T2315M probably damaging Het
Tgfb1i1 C T 7: 127,848,353 (GRCm39) R191C probably damaging Het
Thumpd3 T A 6: 113,036,939 (GRCm39) N279K probably benign Het
Tmed5 T A 5: 108,277,887 (GRCm39) H95L possibly damaging Het
Tmem161a T C 8: 70,634,674 (GRCm39) L443P probably damaging Het
Ttc38 C A 15: 85,720,328 (GRCm39) Q97K probably benign Het
Unc13c C A 9: 73,656,829 (GRCm39) C1124F probably damaging Het
Vmn2r102 A G 17: 19,896,958 (GRCm39) T102A possibly damaging Het
Vwce G A 19: 10,641,946 (GRCm39) E891K possibly damaging Het
Xkr5 A T 8: 18,984,361 (GRCm39) S394T possibly damaging Het
Zan C T 5: 137,390,326 (GRCm39) C4747Y unknown Het
Zfp804a T C 2: 82,089,536 (GRCm39) F1122L probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GAAGTTCTCGTTCTTCCAGGTC -3'
(R):5'- GTTTGGGCTTCAACGGAGAG -3'

Sequencing Primer
(F):5'- TCTGGCAGCCATCCCTG -3'
(R):5'- TTGACTGGTAGGAAAAGGGTGTATG -3'
Posted On 2019-06-07