Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02089:Atp8a2'

279390

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: 0.348) question?

Stock #

IGL02089

Quality Score

Status

Chromosome

Chromosomal Location

59884980-60324363 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 60264369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000079238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080368] [ENSMUST00000145071]

AlphaFold

P98200

Predicted Effect

probably null
Transcript: ENSMUST00000080368

SMART Domains

Protein: ENSMUSP00000079238
Gene: ENSMUSG00000021983

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

Predicted Effect

probably benign
Transcript: ENSMUST00000145071

SMART Domains

Protein: ENSMUSP00000115592
Gene: ENSMUSG00000021983

Domain	Start	End	E-Value	Type
SCOP:d1eula_	21	129	1e-6	SMART

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330160F10Rik	C	T	11: 68,951,013 (GRCm39)		silent	Het
Adck1	G	T	12: 88,413,480 (GRCm39)	V271F	probably damaging	Het
Aggf1	T	C	13: 95,507,437 (GRCm39)	D116G	probably benign	Het
Anapc1	A	T	2: 128,505,853 (GRCm39)	V661E	probably damaging	Het
Apoa5	T	C	9: 46,180,437 (GRCm39)		probably null	Het
Bnipl	A	T	3: 95,157,577 (GRCm39)		probably benign	Het
Cbs	T	G	17: 31,834,519 (GRCm39)	D490A	probably benign	Het
Chrdl1	G	T	X: 142,086,510 (GRCm39)	H199N	possibly damaging	Het
Dcaf1	C	T	9: 106,740,310 (GRCm39)	T1232I	probably benign	Het
Ddx19b	T	C	8: 111,735,477 (GRCm39)		probably benign	Het
Ephb4	A	G	5: 137,369,024 (GRCm39)	K805E	probably damaging	Het
Ergic3	A	G	2: 155,852,395 (GRCm39)	N135D	probably benign	Het
Fbxw18	C	T	9: 109,530,390 (GRCm39)	V74I	probably benign	Het
Fmo4	G	T	1: 162,626,649 (GRCm39)	T299N	probably benign	Het
Gmeb1	T	C	4: 131,953,147 (GRCm39)	K540E	probably damaging	Het
H60c	T	A	10: 3,209,826 (GRCm39)	S154C	possibly damaging	Het
Herc1	T	C	9: 66,388,151 (GRCm39)	L3812S	probably damaging	Het
Hipk3	T	C	2: 104,261,724 (GRCm39)	D937G	probably damaging	Het
Ift122	A	G	6: 115,902,398 (GRCm39)	D1079G	probably benign	Het
Il6st	T	C	13: 112,631,774 (GRCm39)	W438R	probably benign	Het
Lypla2	C	T	4: 135,696,932 (GRCm39)	V117I	probably benign	Het
Mapk8ip1	T	C	2: 92,216,220 (GRCm39)	Y516C	probably damaging	Het
Mmp24	G	A	2: 155,654,213 (GRCm39)	G397D	probably damaging	Het
Muc4	G	A	16: 32,570,131 (GRCm39)	S397N	possibly damaging	Het
Muc5b	T	G	7: 141,416,987 (GRCm39)	V3311G	probably benign	Het
Naca	A	G	10: 127,872,358 (GRCm39)		probably benign	Het
Nrxn1	A	G	17: 91,395,829 (GRCm39)	V109A	probably benign	Het
Nup210	T	G	6: 91,053,680 (GRCm39)	D279A	probably benign	Het
Or10g6	A	T	9: 39,934,066 (GRCm39)	I126F	probably damaging	Het
Or8h7	A	G	2: 86,721,460 (GRCm39)	S20P	possibly damaging	Het
Pappa	T	A	4: 65,074,361 (GRCm39)	V305E	possibly damaging	Het
Pcdh19	A	T	X: 132,489,245 (GRCm39)	M977K	probably benign	Het
Pdzph1	T	A	17: 59,274,334 (GRCm39)	I837F	possibly damaging	Het
Phip	A	T	9: 82,753,372 (GRCm39)	L1791M	probably damaging	Het
Pkdrej	C	T	15: 85,700,489 (GRCm39)	V1816I	possibly damaging	Het
Ptprz1	G	A	6: 23,033,447 (GRCm39)	V1063M	probably damaging	Het
Qprt	A	T	7: 126,707,528 (GRCm39)	M220K	probably damaging	Het
R3hcc1	T	C	14: 69,937,475 (GRCm39)	K391E	possibly damaging	Het
Rbbp7	C	A	X: 161,554,052 (GRCm39)	P162Q	probably benign	Het
Rev3l	A	T	10: 39,701,095 (GRCm39)	N1864I	probably damaging	Het
Rims1	A	G	1: 22,669,556 (GRCm39)	I84T	possibly damaging	Het
Rnase2b	A	T	14: 51,400,240 (GRCm39)	K107I	probably benign	Het
Sbf1	C	A	15: 89,186,708 (GRCm39)	E864*	probably null	Het
Strip2	G	A	6: 29,917,179 (GRCm39)		probably benign	Het
Stx4a	T	C	7: 127,447,570 (GRCm39)	I238T	probably damaging	Het
Tbc1d2b	C	T	9: 90,104,412 (GRCm39)	V577I	possibly damaging	Het
Tex38	T	C	4: 115,637,591 (GRCm39)	T71A	possibly damaging	Het
Usp38	T	C	8: 81,712,343 (GRCm39)	E564G	possibly damaging	Het
Vmn2r72	A	T	7: 85,387,374 (GRCm39)	V730E	probably benign	Het
Wwp2	T	A	8: 108,280,689 (GRCm39)	L644Q	probably damaging	Het
Zfp267	T	C	3: 36,218,877 (GRCm39)	F300S	possibly damaging	Het
Zpld1	A	G	16: 55,071,974 (GRCm39)	I95T	probably benign	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
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
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

2015-04-16