Incidental Mutation 'R4879:Atp8a2'
ID 375163
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 042488-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.348) question?
Stock # R4879 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 59884980-60324363 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 60245918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 591 (Y591*)
Ref Sequence ENSEMBL: ENSMUSP00000079238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080368]
AlphaFold P98200
Predicted Effect probably null
Transcript: ENSMUST00000080368
AA Change: Y591*
SMART Domains Protein: ENSMUSP00000079238
Gene: ENSMUSG00000021983
AA Change: Y591*

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 97% (86/89)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,110,526 (GRCm39) Y541F probably damaging Het
Acot12 T A 13: 91,911,083 (GRCm39) V136E probably benign Het
Aftph A G 11: 20,648,311 (GRCm39) probably null Het
Ambra1 C T 2: 91,603,039 (GRCm39) probably benign Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Ano9 T C 7: 140,690,415 (GRCm39) D73G probably benign Het
Asap3 G A 4: 135,969,975 (GRCm39) D778N probably benign Het
Blk T C 14: 63,613,414 (GRCm39) T365A probably benign Het
C4b G T 17: 34,962,621 (GRCm39) S27Y probably damaging Het
C6 G T 15: 4,833,129 (GRCm39) probably null Het
Ccdc33 T A 9: 57,974,839 (GRCm39) I345F possibly damaging Het
Cetn3 T A 13: 81,940,268 (GRCm39) probably benign Het
Cntn3 T A 6: 102,244,389 (GRCm39) I387L possibly damaging Het
Cog8 A G 8: 107,782,984 (GRCm39) C102R probably damaging Het
Cspg4b T C 13: 113,456,321 (GRCm39) I789T probably benign Het
Cyp2c55 CA C 19: 39,030,522 (GRCm39) probably null Het
Defa40 T A 8: 21,740,380 (GRCm39) L62Q probably damaging Het
Dmxl1 C T 18: 50,022,534 (GRCm39) A1624V probably damaging Het
Dnah1 T G 14: 31,022,705 (GRCm39) E1144A possibly damaging Het
Dnah12 T A 14: 26,439,201 (GRCm39) probably null Het
Dnah2 G A 11: 69,367,517 (GRCm39) T1794I probably damaging Het
Entrep1 T C 19: 23,953,019 (GRCm39) probably null Het
Erbin A T 13: 103,971,282 (GRCm39) M778K probably benign Het
Fbxw10 G T 11: 62,738,573 (GRCm39) A156S probably damaging Het
Flnc T A 6: 29,460,805 (GRCm39) F2632Y probably damaging Het
Frmd4a A G 2: 4,534,628 (GRCm39) K160E probably damaging Het
Glipr1l2 A G 10: 111,943,029 (GRCm39) K295E probably benign Het
Herc1 T A 9: 66,370,119 (GRCm39) C465* probably null Het
Hoxb4 A G 11: 96,211,014 (GRCm39) I205V probably damaging Het
Ikbke GCC G 1: 131,203,004 (GRCm39) probably null Het
Il36a A G 2: 24,106,032 (GRCm39) N29S probably benign Het
Ilk A G 7: 105,391,011 (GRCm39) S292G probably benign Het
Itgb5 G C 16: 33,696,348 (GRCm39) G180R probably damaging Het
Josd1-ps T C 7: 27,648,768 (GRCm39) noncoding transcript Het
Kcnip4 T C 5: 48,567,207 (GRCm39) D120G possibly damaging Het
Kin A G 2: 10,085,455 (GRCm39) D5G probably benign Het
Lrrtm2 C A 18: 35,346,372 (GRCm39) G310V probably damaging Het
Med1 T C 11: 98,046,186 (GRCm39) probably benign Het
Mepce C A 5: 137,783,544 (GRCm39) probably benign Het
Nckipsd T A 9: 108,691,114 (GRCm39) probably benign Het
Notch3 T A 17: 32,366,937 (GRCm39) Q866L probably benign Het
Or52b4 A T 7: 102,183,962 (GRCm39) T3S probably benign Het
Or5l14 A T 2: 87,793,040 (GRCm39) H65Q possibly damaging Het
Or8k20 A T 2: 86,106,107 (GRCm39) C241* probably null Het
Orai1 T C 5: 123,149,894 (GRCm39) probably benign Het
Pate12 G A 9: 36,344,089 (GRCm39) C24Y probably damaging Het
Pcdhb8 A T 18: 37,489,219 (GRCm39) E299V probably damaging Het
Pcnx4 G A 12: 72,613,959 (GRCm39) D635N probably damaging Het
Pex5 T C 6: 124,375,322 (GRCm39) I567V probably benign Het
Ppfibp2 T C 7: 107,328,390 (GRCm39) S485P probably benign Het
Sbno1 T C 5: 124,542,087 (GRCm39) Y356C probably damaging Het
Sdcbp T C 4: 6,381,056 (GRCm39) I67T possibly damaging Het
Slc5a7 A G 17: 54,583,679 (GRCm39) I537T probably benign Het
Slc66a1 A T 4: 139,029,095 (GRCm39) probably null Het
Smad4 A G 18: 73,774,974 (GRCm39) C442R probably damaging Het
Smpd5 A G 15: 76,179,070 (GRCm39) H146R possibly damaging Het
Snai2 A G 16: 14,524,605 (GRCm39) Y37C probably benign Het
Snapc4 C T 2: 26,256,004 (GRCm39) S840N possibly damaging Het
Stpg2 T C 3: 138,921,134 (GRCm39) I113T probably benign Het
Tbc1d32 T C 10: 55,925,125 (GRCm39) probably null Het
Tfg A T 16: 56,521,520 (GRCm39) S39R probably damaging Het
Thsd7b T A 1: 130,116,236 (GRCm39) S1330T possibly damaging Het
Tnfaip3 T C 10: 18,881,321 (GRCm39) T322A probably benign Het
Tpra1 A G 6: 88,888,691 (GRCm39) Y291C probably damaging Het
Trcg1 A G 9: 57,154,003 (GRCm39) D658G probably damaging Het
Trip4 C T 9: 65,782,304 (GRCm39) V143I probably benign Het
Trp53bp1 T C 2: 121,033,084 (GRCm39) K1691E probably damaging Het
Ttc8 T A 12: 98,908,562 (GRCm39) M77K possibly damaging Het
Tubb2a A T 13: 34,258,572 (GRCm39) M406K probably benign Het
Txnrd1 T A 10: 82,717,751 (GRCm39) probably null Het
Ugt2a3 C A 5: 87,479,144 (GRCm39) R268L probably benign Het
Usp34 T G 11: 23,323,410 (GRCm39) M982R possibly damaging Het
Vmn2r43 T A 7: 8,258,102 (GRCm39) K370N probably benign Het
Vopp1 A T 6: 57,739,355 (GRCm39) probably benign Het
Vps11 A C 9: 44,264,597 (GRCm39) C660G probably benign Het
Wnk1 T C 6: 119,926,338 (GRCm39) H1137R probably damaging Het
Wtap A G 17: 13,188,322 (GRCm39) Y193H probably damaging Het
Zfp462 T A 4: 55,009,444 (GRCm39) V470D 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
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
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'- CTAGAGAGAATGACAGTATCCCAAGAC -3'
(R):5'- CCTTTGTCGCTCTGTGAATG -3'

Sequencing Primer
(F):5'- ATTCCTATCCAAAGACTTTGCTCAAC -3'
(R):5'- CTGTGAATGTTAAGTTACAGGAACCC -3'
Posted On 2016-03-17