Mutagenetix > Incidental Mutation

Incidental Mutation 'R6651:Atp8a2'

527807

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

044772-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.348) question?

Stock #

R6651 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59884980-60324363 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60011470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 946 (D946E)

Ref Sequence

ENSEMBL: ENSMUSP00000079238 (fasta)

Gene Model

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

AlphaFold

P98200

Predicted Effect

probably benign
Transcript: ENSMUST00000080368
AA Change: D946E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000079238
Gene: ENSMUSG00000021983
AA Change: D946E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.7%

Validation Efficiency

98% (50/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	C	7: 43,147,496 (GRCm39)	S198A	possibly damaging	Het
Adamts15	A	T	9: 30,833,448 (GRCm39)	I29N	probably damaging	Het
Ankrd61	A	T	5: 143,830,438 (GRCm39)	I33N	probably damaging	Het
Arl6ip1	C	T	7: 117,728,708 (GRCm39)	R7H	probably benign	Het
Cc2d2b	A	T	19: 40,766,573 (GRCm39)	Q114L	probably damaging	Het
Ccdc163	T	A	4: 116,566,261 (GRCm39)	S16R	possibly damaging	Het
Chil6	C	T	3: 106,311,576 (GRCm39)	C68Y	probably damaging	Het
Cngb3	G	T	4: 19,375,231 (GRCm39)	R287L	probably benign	Het
Crem	C	T	18: 3,325,428 (GRCm39)	R16H	probably benign	Het
Cyp4f16	C	T	17: 32,763,118 (GRCm39)	R188C	probably benign	Het
Dap	A	G	15: 31,273,353 (GRCm39)	D46G	probably damaging	Het
Dnah7c	C	A	1: 46,688,500 (GRCm39)	T1890K	probably benign	Het
Dnah7c	A	G	1: 46,688,511 (GRCm39)	S1894G	probably benign	Het
Enam	T	C	5: 88,650,776 (GRCm39)	Y687H	probably damaging	Het
Fzd4	A	T	7: 89,054,010 (GRCm39)	D39V	possibly damaging	Het
Ggta1	G	T	2: 35,292,306 (GRCm39)	H334N	probably benign	Het
Golga3	C	T	5: 110,365,996 (GRCm39)	R1254*	probably null	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Helz2	C	T	2: 180,881,350 (GRCm39)	W377*	probably null	Het
Hfm1	T	C	5: 106,995,553 (GRCm39)	D1286G	probably benign	Het
Hhatl	T	C	9: 121,613,768 (GRCm39)	R425G	probably damaging	Het
Hivep3	G	A	4: 119,980,146 (GRCm39)	R1728H	probably damaging	Het
Hyal1	A	G	9: 107,456,570 (GRCm39)	Y419C	probably damaging	Het
Ighv8-12	A	T	12: 115,611,644 (GRCm39)	D84E	possibly damaging	Het
Itln1	A	G	1: 171,345,940 (GRCm39)	F271L	possibly damaging	Het
Klra7	C	A	6: 130,206,908 (GRCm39)	L64F	probably benign	Het
Kmt2a	A	T	9: 44,740,108 (GRCm39)	C1878*	probably null	Het
Mia2	C	A	12: 59,201,148 (GRCm39)	Q825K	possibly damaging	Het
Mmp12	C	A	9: 7,355,345 (GRCm39)	P294Q	possibly damaging	Het
Nedd4	A	G	9: 72,638,553 (GRCm39)	N480S	possibly damaging	Het
Or4c12b	A	T	2: 89,647,240 (GRCm39)	E190V	probably benign	Het
Or4e5	C	T	14: 52,728,250 (GRCm39)	R57Q	probably benign	Het
Pax6	T	A	2: 105,516,175 (GRCm39)	M151K	probably benign	Het
Pgm2	A	G	5: 64,269,437 (GRCm39)	Y508C	probably benign	Het
Ptpn20	T	C	14: 33,354,897 (GRCm39)	F324S	probably damaging	Het
Recql	A	G	6: 142,310,160 (GRCm39)		probably null	Het
Rerg	A	G	6: 137,033,384 (GRCm39)	V97A	probably damaging	Het
Rffl	C	A	11: 82,703,605 (GRCm39)	C106F	probably damaging	Het
Scaper	T	G	9: 55,765,788 (GRCm39)	N499T	probably benign	Het
Sfxn3	G	A	19: 45,038,354 (GRCm39)		probably null	Het
Slc36a4	A	G	9: 15,634,874 (GRCm39)	S139G	probably benign	Het
Slco2b1	T	A	7: 99,316,376 (GRCm39)	M385L	probably benign	Het
Smg8	T	C	11: 86,977,372 (GRCm39)	T70A	probably benign	Het
Spats2l	A	T	1: 57,985,336 (GRCm39)	K463M	probably damaging	Het
Thbs4	T	C	13: 92,893,044 (GRCm39)	I715V	probably benign	Het
Tmem234	T	A	4: 129,501,264 (GRCm39)	M113K	possibly damaging	Het
Vmn2r10	T	C	5: 109,143,488 (GRCm39)	I821V	probably null	Het
Vmn2r116	A	T	17: 23,607,805 (GRCm39)	K458*	probably null	Het
Vmn2r76	T	A	7: 85,878,059 (GRCm39)	N446I	possibly damaging	Het
Vmn2r95	T	A	17: 18,660,622 (GRCm39)	Y345N	probably damaging	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
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
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'- AGCCTGAACTTCAAGGAATCC -3'
(R):5'- ACTGCTTGTTTTCCAGCCAG -3'

Sequencing Primer
(F):5'- TGAACTTCAAGGAATCCACAGC -3'
(R):5'- GCTTGTTTTCCAGCCAGACAAAAAG -3'

Posted On

2018-07-23