Incidental Mutation 'R1573:Atp8a2'
ID 170992
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 039612-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.362) question?
Stock # R1573 (G1)
Quality Score 157
Status Validated
Chromosome 14
Chromosomal Location 59884980-60324363 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 60097655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 791 (T791K)
Ref Sequence ENSEMBL: ENSMUSP00000079238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080368]
AlphaFold P98200
Predicted Effect probably benign
Transcript: ENSMUST00000080368
AA Change: T791K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000079238
Gene: ENSMUSG00000021983
AA Change: T791K

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
Meta Mutation Damage Score 0.1217 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.6%
  • 20x: 87.1%
Validation Efficiency 98% (90/92)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 T C 11: 46,004,445 (GRCm39) probably benign Het
Add1 C G 5: 34,758,740 (GRCm39) A18G possibly damaging Het
Alk T C 17: 72,910,113 (GRCm39) K198E possibly damaging Het
Angptl1 T A 1: 156,684,740 (GRCm39) L303Q possibly damaging Het
Aox1 A T 1: 58,348,186 (GRCm39) I635L probably benign Het
Atp5mk T A 19: 47,074,634 (GRCm39) Q9L possibly damaging Het
Auts2 T C 5: 131,469,325 (GRCm39) K664R probably damaging Het
Birc6 T A 17: 74,967,685 (GRCm39) probably benign Het
Cacna1i C A 15: 80,277,869 (GRCm39) probably null Het
Cacna2d1 T C 5: 16,575,625 (GRCm39) F1077L probably damaging Het
Camkk1 C T 11: 72,918,307 (GRCm39) R52C probably damaging Het
Camkmt T A 17: 85,403,958 (GRCm39) V60E probably damaging Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Cbr2 A T 11: 120,622,791 (GRCm39) L3Q possibly damaging Het
Ccar1 A T 10: 62,586,434 (GRCm39) D920E unknown Het
Cdc20b A G 13: 113,192,478 (GRCm39) N57S probably benign Het
Cep83 G A 10: 94,624,525 (GRCm39) E601K probably damaging Het
Cldn10 A T 14: 119,111,080 (GRCm39) I176L probably benign Het
Cpeb2 T C 5: 43,441,273 (GRCm39) probably benign Het
Crb1 A G 1: 139,265,344 (GRCm39) S25P probably damaging Het
Cyp3a59 A T 5: 146,039,684 (GRCm39) Y319F probably damaging Het
Dst C T 1: 34,240,312 (GRCm39) S1561F probably damaging Het
Dxo C T 17: 35,057,270 (GRCm39) R221C probably damaging Het
Dynlt4 A T 4: 116,985,191 (GRCm39) T5S probably benign Het
Epc2 A G 2: 49,439,984 (GRCm39) T801A possibly damaging Het
Fndc3a C A 14: 72,806,384 (GRCm39) C373F probably damaging Het
Frmpd1 T C 4: 45,283,932 (GRCm39) S918P probably benign Het
Fuca2 A G 10: 13,381,587 (GRCm39) T84A possibly damaging Het
Garin4 G A 1: 190,896,682 (GRCm39) probably benign Het
Gmeb1 A T 4: 131,979,051 (GRCm39) N21K probably benign Het
Htt T C 5: 35,021,718 (GRCm39) probably benign Het
Igsf1 T C X: 48,880,863 (GRCm39) R251G possibly damaging Het
Itih4 A T 14: 30,619,504 (GRCm39) H720L probably benign Het
Kank4 A T 4: 98,663,073 (GRCm39) L705* probably null Het
Krt34 A T 11: 99,931,854 (GRCm39) S122T probably benign Het
L1td1 A G 4: 98,625,517 (GRCm39) T571A probably benign Het
Lag3 T C 6: 124,886,210 (GRCm39) T248A possibly damaging Het
Lgi1 T A 19: 38,272,629 (GRCm39) H133Q probably benign Het
Map1a A T 2: 121,134,607 (GRCm39) T1808S probably benign Het
Mcm9 T C 10: 53,424,752 (GRCm39) T613A probably damaging Het
Meaf6 A G 4: 124,983,931 (GRCm39) I111V probably benign Het
Mki67 G A 7: 135,296,845 (GRCm39) P2730S possibly damaging Het
Mlc1 A C 15: 88,842,350 (GRCm39) C337G probably damaging Het
Mrc2 T A 11: 105,227,482 (GRCm39) Y572N probably damaging Het
Mterf3 T C 13: 67,070,967 (GRCm39) N172S possibly damaging Het
Or3a1c T A 11: 74,046,196 (GRCm39) M72K probably benign Het
Or4b1 A T 2: 89,979,068 (GRCm39) probably benign Het
Or4c115 T A 2: 88,928,064 (GRCm39) D69V probably damaging Het
Or5ak4 A T 2: 85,161,687 (GRCm39) L185H probably damaging Het
Or6c6c T C 10: 129,541,487 (GRCm39) S247P probably damaging Het
Padi4 T G 4: 140,484,881 (GRCm39) T327P possibly damaging Het
Pga5 T A 19: 10,651,201 (GRCm39) I151F probably benign Het
Pkdrej G T 15: 85,702,275 (GRCm39) D1220E probably benign Het
Prokr2 T A 2: 132,215,684 (GRCm39) Q259L probably damaging Het
Ptbp2 C A 3: 119,546,754 (GRCm39) D43Y probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ralgps2 C T 1: 156,660,500 (GRCm39) R237Q possibly damaging Het
Rap1gds1 C A 3: 138,671,624 (GRCm39) probably null Het
Saa2 T A 7: 46,401,716 (GRCm39) M1K probably null Het
Samd9l T C 6: 3,375,426 (GRCm39) I612V probably damaging Het
Scn10a C T 9: 119,442,692 (GRCm39) V1518I probably benign Het
Serpina6 T C 12: 103,618,012 (GRCm39) D267G probably damaging Het
Sh2d4b A G 14: 40,564,329 (GRCm39) probably null Het
Sh3bp2 T C 5: 34,718,034 (GRCm39) V505A probably benign Het
Smad2 A G 18: 76,395,657 (GRCm39) E32G possibly damaging Het
Smn1 T G 13: 100,263,118 (GRCm39) D32E probably damaging Het
Spata31d1c T C 13: 65,182,883 (GRCm39) S142P possibly damaging Het
Stk39 A T 2: 68,221,293 (GRCm39) I210N probably damaging Het
Tcte2 A G 17: 13,937,899 (GRCm39) probably benign Het
Tctn3 C A 19: 40,597,361 (GRCm39) E230* probably null Het
Tenm2 A T 11: 35,937,896 (GRCm39) H1592Q probably damaging Het
Tescl A G 7: 24,032,668 (GRCm39) V219A probably damaging Het
Tgm6 C T 2: 129,993,660 (GRCm39) S633L probably benign Het
Tmcc1 C T 6: 116,110,924 (GRCm39) S123N probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ulk2 G A 11: 61,670,581 (GRCm39) R992C probably damaging Het
Vwa5b1 G A 4: 138,332,184 (GRCm39) H278Y probably damaging Het
Wwp2 C T 8: 108,275,121 (GRCm39) R373W probably damaging Het
Zfp24 A T 18: 24,150,399 (GRCm39) D170E possibly damaging Het
Zfp808 T C 13: 62,319,311 (GRCm39) I180T possibly damaging Het
Zfp820 T A 17: 22,037,737 (GRCm39) Q530H probably benign Het
Zfp975 A T 7: 42,311,507 (GRCm39) Y369N 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
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
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'- AGTCAGCAGGCACTTTCGGTTC -3'
(R):5'- CCTGGTAACCACCTTTGAATGCAGC -3'

Sequencing Primer
(F):5'- GCACTTTCGGTTCCTCTAGATG -3'
(R):5'- CCTTTGAATGCAGCCTGTGTG -3'
Posted On 2014-04-13