Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02874:Atp8a2'

362652

Institutional Source

Australian Phenomics Network (link to record)

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: 0.362) question?

Stock #

IGL02874

Quality Score

Status

Chromosome

Chromosomal Location

59884980-60324363 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60039701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 876 (Y876H)

Ref Sequence

ENSEMBL: ENSMUSP00000079238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080368]

AlphaFold

P98200

Predicted Effect

probably damaging
Transcript: ENSMUST00000080368
AA Change: Y876H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079238
Gene: ENSMUSG00000021983
AA Change: Y876H

Domain	Start	End	E-Value	Type
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

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cfap65	G	A	1: 74,950,267 (GRCm39)	Q1161*	probably null	Het
Chrd	C	T	16: 20,553,946 (GRCm39)	T282I	probably damaging	Het
Clasp1	T	C	1: 118,479,773 (GRCm39)	S749P	possibly damaging	Het
Clec4a3	T	A	6: 122,944,519 (GRCm39)	N188K	probably benign	Het
Dmpk	A	G	7: 18,820,926 (GRCm39)	M181V	possibly damaging	Het
Dnah7a	A	T	1: 53,644,973 (GRCm39)	M1021K	possibly damaging	Het
Exoc5	A	T	14: 49,288,903 (GRCm39)	N48K	probably benign	Het
Golga1	A	G	2: 38,929,104 (GRCm39)	L338P	probably damaging	Het
Hdc	T	A	2: 126,443,596 (GRCm39)	T334S	probably benign	Het
Idh2	A	G	7: 79,747,621 (GRCm39)	S300P	probably damaging	Het
Igkv4-78	T	C	6: 69,037,190 (GRCm39)	I7V	probably benign	Het
Impdh1	A	T	6: 29,203,155 (GRCm39)	M389K	probably damaging	Het
Kcnd2	T	A	6: 21,216,922 (GRCm39)	C209S	probably damaging	Het
Or11g25	G	T	14: 50,723,686 (GRCm39)	C257F	possibly damaging	Het
Or4q3	A	T	14: 50,583,583 (GRCm39)	H105Q	probably damaging	Het
Or56b2	C	A	7: 104,337,230 (GRCm39)	Q3K	probably benign	Het
Ovol1	T	C	19: 5,601,209 (GRCm39)	K194R	probably damaging	Het
Pcdh17	A	T	14: 84,685,680 (GRCm39)	I716F	possibly damaging	Het
Pck1	T	C	2: 172,997,042 (GRCm39)	I228T	probably damaging	Het
Pla2g2a	T	C	4: 138,562,159 (GRCm39)	F132L	probably benign	Het
Prex1	A	G	2: 166,426,967 (GRCm39)	V1086A	probably damaging	Het
Rasd2	T	C	8: 75,945,327 (GRCm39)	I52T	probably damaging	Het
Robo1	T	C	16: 72,809,806 (GRCm39)	Y1185H	probably damaging	Het
Sema6c	T	G	3: 95,077,688 (GRCm39)	V441G	probably damaging	Het
Slc9a4	A	T	1: 40,623,198 (GRCm39)	M146L	probably benign	Het
Thsd4	C	T	9: 60,160,013 (GRCm39)	V358I	probably damaging	Het
Ttbk1	T	C	17: 46,781,151 (GRCm39)	E474G	probably benign	Het
Ttbk2	T	A	2: 120,576,193 (GRCm39)	D928V	probably damaging	Het
Ttn	C	T	2: 76,641,522 (GRCm39)	G11779S	probably damaging	Het
Wfdc6b	T	C	2: 164,459,368 (GRCm39)		probably null	Het

Other mutations in Atp8a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2015-12-18