Incidental Mutation 'R9367:Atp8a2'
ID 709079
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.348) question?
Stock # R9367 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 59884980-60324363 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 60249827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000079238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080368]
AlphaFold P98200
Predicted Effect probably null
Transcript: ENSMUST00000080368
SMART Domains Protein: ENSMUSP00000079238
Gene: ENSMUSG00000021983

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
4930568D16Rik A T 2: 35,244,939 (GRCm39) Y138N probably benign Het
Abca4 T C 3: 121,838,197 (GRCm39) M1T probably null Het
Acer3 A G 7: 97,908,621 (GRCm39) V104A probably damaging Het
Agpat4 A G 17: 12,435,597 (GRCm39) E287G probably benign Het
Akip1 C T 7: 109,308,156 (GRCm39) A146V unknown Het
Ank2 T C 3: 126,738,678 (GRCm39) N2402S unknown Het
Arhgdig A T 17: 26,418,451 (GRCm39) Y177* probably null Het
Arhgef38 T A 3: 132,847,998 (GRCm39) T355S unknown Het
Atp8b4 A G 2: 126,216,430 (GRCm39) I672T probably damaging Het
Baat T A 4: 49,503,008 (GRCm39) D38V probably damaging Het
Bcl9 T C 3: 97,117,861 (GRCm39) S278G probably benign Het
Ccdc150 C T 1: 54,324,760 (GRCm39) L350F probably damaging Het
Ceacam20 T G 7: 19,705,533 (GRCm39) S175A probably damaging Het
Chd6 A T 2: 160,871,784 (GRCm39) I217K possibly damaging Het
Cnppd1 T C 1: 75,117,617 (GRCm39) I35V probably benign Het
Col15a1 T C 4: 47,245,603 (GRCm39) I118T probably damaging Het
Csmd3 A T 15: 47,567,564 (GRCm39) Y1289N Het
Dio2 T C 12: 90,696,587 (GRCm39) T134A probably benign Het
Dnaaf9 A T 2: 130,581,380 (GRCm39) N678K probably benign Het
Dnah17 A G 11: 117,987,464 (GRCm39) V1282A possibly damaging Het
Dnah17 A G 11: 118,012,212 (GRCm39) S517P possibly damaging Het
Dync2h1 C T 9: 7,125,730 (GRCm39) probably null Het
Echdc2 C A 4: 108,036,111 (GRCm39) P274Q probably damaging Het
Fam117a T A 11: 95,271,570 (GRCm39) C381S probably damaging Het
Fbxl12 A G 9: 20,550,130 (GRCm39) F122S probably damaging Het
Gen1 G A 12: 11,291,309 (GRCm39) Q892* probably null Het
Gimap4 A G 6: 48,667,746 (GRCm39) Y167C probably damaging Het
Gle1 T A 2: 29,839,014 (GRCm39) F476L probably damaging Het
Gpr135 A T 12: 72,117,473 (GRCm39) V98E possibly damaging Het
Greb1l A T 18: 10,522,130 (GRCm39) H742L probably benign Het
Habp2 G T 19: 56,304,781 (GRCm39) C392F probably damaging Het
Hapln3 G T 7: 78,771,455 (GRCm39) R145S probably damaging Het
Ikbkb A G 8: 23,171,711 (GRCm39) C179R probably damaging Het
Kat6a A T 8: 23,400,156 (GRCm39) I306L possibly damaging Het
Lmo3 A T 6: 138,342,958 (GRCm39) Y140* probably null Het
Lrrc32 T A 7: 98,148,937 (GRCm39) N572K probably damaging Het
Lrrn1 T A 6: 107,545,093 (GRCm39) M297K probably damaging Het
Magi2 G A 5: 20,766,308 (GRCm39) V676I probably damaging Het
Mdga1 T C 17: 30,051,282 (GRCm39) *957W probably null Het
Mip G T 10: 128,063,029 (GRCm39) G158V probably damaging Het
Mmp14 T C 14: 54,677,960 (GRCm39) I527T probably benign Het
Mmp27 G A 9: 7,573,550 (GRCm39) G188D probably damaging Het
Mylk4 A T 13: 32,960,236 (GRCm39) C17S possibly damaging Het
Naa50 T G 16: 43,977,554 (GRCm39) I94R probably damaging Het
Nyap1 A T 5: 137,734,248 (GRCm39) Y262N probably damaging Het
Obsl1 A G 1: 75,466,177 (GRCm39) V1517A probably benign Het
P4htm T A 9: 108,459,147 (GRCm39) M262L probably benign Het
Pappa2 T C 1: 158,784,542 (GRCm39) E156G probably benign Het
Pcdhb15 A T 18: 37,607,971 (GRCm39) Y401F possibly damaging Het
Pde2a G A 7: 101,160,361 (GRCm39) R845H probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Penk C T 4: 4,134,097 (GRCm39) M183I probably benign Het
Pole T C 5: 110,444,955 (GRCm39) V437A probably damaging Het
Ppp1r7 T C 1: 93,279,262 (GRCm39) I114T probably damaging Het
Prr27 C A 5: 87,990,994 (GRCm39) P202Q probably benign Het
Pwp2 G A 10: 78,014,827 (GRCm39) Q386* probably null Het
Rad17 A T 13: 100,769,720 (GRCm39) S280T possibly damaging Het
Rhebl1 C T 15: 98,776,414 (GRCm39) E128K possibly damaging Het
Sema3e G T 5: 14,291,084 (GRCm39) V615L probably benign Het
Slc22a2 A T 17: 12,824,837 (GRCm39) Y233F probably benign Het
Ssu2 A G 6: 112,357,975 (GRCm39) S123P probably damaging Het
Stk10 A G 11: 32,538,878 (GRCm39) E239G Het
Surf6 G T 2: 26,782,380 (GRCm39) Q316K probably damaging Het
Tcerg1 G A 18: 42,685,573 (GRCm39) D637N possibly damaging Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Tnxb C A 17: 34,931,993 (GRCm39) F2175L probably damaging Het
Trp53i11 G C 2: 93,029,273 (GRCm39) V91L probably benign Het
Tspan9 A G 6: 127,944,102 (GRCm39) V66A probably damaging Het
Usp16 C T 16: 87,261,669 (GRCm39) T95M probably benign Het
Usp9y A T Y: 1,324,982 (GRCm39) F1691Y probably damaging Het
Uty A T Y: 1,099,584 (GRCm39) L1204I possibly damaging Het
Vmn1r192 A T 13: 22,371,800 (GRCm39) V140D possibly damaging Het
Vps54 T C 11: 21,250,234 (GRCm39) V552A probably benign Het
Vps8 T C 16: 21,340,668 (GRCm39) V804A possibly damaging Het
Zfp869 A C 8: 70,161,057 (GRCm39) L33R 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
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
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'- GATTCTGTGTCCAAAGCTCACTC -3'
(R):5'- ACCTTGACATTTCTAGGCTGC -3'

Sequencing Primer
(F):5'- AAAGCTCACTCTTTGTCACTCTGTG -3'
(R):5'- ACCTTGACATTTCTAGGCTGCATATG -3'
Posted On 2022-04-18