Mutagenetix > Incidental Mutation

Incidental Mutation 'R0684:Atp8a2'

61085

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

038869-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.362) question?

Stock #

R0684 (G1)

Quality Score

135

Status

Validated

Chromosome

Chromosomal Location

59884980-60324363 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60260593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 419 (E419G)

Ref Sequence

ENSEMBL: ENSMUSP00000079238 (fasta)

Gene Model

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

AlphaFold

P98200

Predicted Effect

probably benign
Transcript: ENSMUST00000080368
AA Change: E419G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000079238
Gene: ENSMUSG00000021983
AA Change: E419G

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

Meta Mutation Damage Score

0.0727

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.1%
20x: 88.8%

Validation Efficiency

100% (69/69)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,466,428 (GRCm39)	L731H	probably damaging	Het
Adora2b	C	T	11: 62,139,995 (GRCm39)	A23V	probably benign	Het
Ankrd17	T	C	5: 90,411,857 (GRCm39)	I1336V	probably damaging	Het
Asxl1	G	A	2: 153,239,442 (GRCm39)	R410H	probably damaging	Het
Atxn1l	A	T	8: 110,459,016 (GRCm39)	N415K	probably damaging	Het
Bcl2l12	T	A	7: 44,646,025 (GRCm39)	T65S	probably benign	Het
Bdh2	A	G	3: 134,996,774 (GRCm39)	I90V	probably benign	Het
Bsph1	T	A	7: 13,206,988 (GRCm39)	N121K	probably damaging	Het
Cd96	T	C	16: 45,938,153 (GRCm39)	Y104C	possibly damaging	Het
Chdh	T	C	14: 29,753,570 (GRCm39)	W160R	probably damaging	Het
Clock	A	G	5: 76,393,365 (GRCm39)	F193L	probably damaging	Het
Copz1	A	G	15: 103,204,958 (GRCm39)		probably null	Het
Cyp2c38	T	C	19: 39,379,500 (GRCm39)	T450A	probably damaging	Het
Cyp2d34	A	T	15: 82,501,751 (GRCm39)	I253K	probably benign	Het
Dhrs13	G	T	11: 77,927,789 (GRCm39)	A212S	probably damaging	Het
Ecsit	T	C	9: 21,987,796 (GRCm39)	N81S	probably benign	Het
Efl1	A	G	7: 82,301,094 (GRCm39)	T33A	probably damaging	Het
Emid1	T	C	11: 5,093,866 (GRCm39)	R92G	probably damaging	Het
Ermp1	A	G	19: 29,609,941 (GRCm39)		probably benign	Het
Fn1	A	T	1: 71,634,968 (GRCm39)		probably null	Het
Hps5	A	G	7: 46,432,893 (GRCm39)		probably null	Het
Hsd17b3	T	C	13: 64,236,882 (GRCm39)	M21V	probably benign	Het
Kat6b	T	C	14: 21,718,849 (GRCm39)	V1176A	probably benign	Het
Midn	A	G	10: 79,992,336 (GRCm39)	K463E	probably damaging	Het
Mier1	A	G	4: 102,996,631 (GRCm39)	E103G	probably damaging	Het
Muc15	A	G	2: 110,564,160 (GRCm39)	N232S	possibly damaging	Het
Ncoa2	T	A	1: 13,294,875 (GRCm39)	E15V	probably damaging	Het
Or10a5	A	T	7: 106,635,889 (GRCm39)	N176Y	probably damaging	Het
Or2n1d	A	G	17: 38,646,735 (GRCm39)	K229R	probably benign	Het
Or52n2b	T	A	7: 104,565,841 (GRCm39)	T221S	probably benign	Het
Pate14	C	T	9: 36,549,176 (GRCm39)	G28E	probably benign	Het
Pigf	A	T	17: 87,327,923 (GRCm39)	F115I	probably benign	Het
Prpsap1	A	T	11: 116,362,317 (GRCm39)	V355E	probably damaging	Het
Ptprk	G	T	10: 28,359,294 (GRCm39)		probably benign	Het
Rae1	G	A	2: 172,846,957 (GRCm39)	R67H	probably damaging	Het
Sema3a	G	A	5: 13,606,494 (GRCm39)		probably null	Het
Slc22a22	T	C	15: 57,126,758 (GRCm39)	T104A	probably benign	Het
Slc38a2	A	T	15: 96,593,168 (GRCm39)	L137*	probably null	Het
Smgc	A	G	15: 91,725,670 (GRCm39)		probably benign	Het
Syce3	A	G	15: 89,274,648 (GRCm39)		probably benign	Het
Syt9	T	A	7: 107,024,343 (GRCm39)	W79R	probably damaging	Het
Tgoln1	A	C	6: 72,592,974 (GRCm39)	S169A	probably benign	Het
Thnsl1	A	G	2: 21,216,477 (GRCm39)	D77G	probably benign	Het
Tsr1	T	A	11: 74,798,767 (GRCm39)	V712E	probably damaging	Het
Wdr12	C	T	1: 60,128,525 (GRCm39)		probably benign	Het
Xdh	T	A	17: 74,250,886 (GRCm39)	N22I	probably damaging	Het
Zfp3	T	A	11: 70,662,395 (GRCm39)	L118Q	probably benign	Het
Zfp592	A	G	7: 80,687,623 (GRCm39)	N883D	probably benign	Het
Zfp609	T	A	9: 65,638,483 (GRCm39)	M250L	probably benign	Het
Zfp94	A	T	7: 24,002,495 (GRCm39)	S316T	probably damaging	Het
Zfp955b	A	G	17: 33,521,947 (GRCm39)	N472S	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCCAGATGTACAAAGCCCTACAGTG -3'
(R):5'- TGTTTGCCAACTTCGGGAGACC -3'

Sequencing Primer
(F):5'- aaaataagtaaaaaaGTTGCAGGTGG -3'
(R):5'- GGGTTCCCCAGTGAATCTTTAAAC -3'

Posted On

2013-07-30