Mutagenetix > Incidental Mutation

Incidental Mutation 'R1620:Atp8a2'

174631

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

039657-MU

Accession Numbers

Essential gene?

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

Stock #

R1620 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59884980-60324363 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 60028632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 945 (H945L)

Ref Sequence

ENSEMBL: ENSMUSP00000079238 (fasta)

Gene Model

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

AlphaFold

P98200

Predicted Effect

probably benign
Transcript: ENSMUST00000080368
AA Change: H945L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000079238
Gene: ENSMUSG00000021983
AA Change: H945L

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

0.1769

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.6%
20x: 90.1%

Validation Efficiency

95% (58/61)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2c2	T	C	8: 120,475,865 (GRCm39)	V586A	probably benign	Het
Bfar	G	T	16: 13,506,710 (GRCm39)	V187F	probably damaging	Het
Capn2	A	T	1: 182,344,702 (GRCm39)	I73N	probably damaging	Het
Cfc1	C	A	1: 34,575,554 (GRCm39)	A76E	possibly damaging	Het
Chl1	T	C	6: 103,667,203 (GRCm39)	F398L	probably benign	Het
Cyp2u1	A	G	3: 131,096,350 (GRCm39)	S143P	probably damaging	Het
Dlgap4	T	A	2: 156,591,056 (GRCm39)	Y57*	probably null	Het
Epha4	T	A	1: 77,351,563 (GRCm39)	R897S	probably benign	Het
Fscn2	A	T	11: 120,257,511 (GRCm39)	T291S	probably damaging	Het
Gga1	G	A	15: 78,772,670 (GRCm39)	S267N	probably damaging	Het
Gigyf2	A	G	1: 87,376,850 (GRCm39)	T1287A	probably damaging	Het
Gm10845	C	A	14: 80,100,669 (GRCm39)		noncoding transcript	Het
Gm11559	T	A	11: 99,755,882 (GRCm39)	L177Q	unknown	Het
Itga9	A	G	9: 118,672,570 (GRCm39)	T195A	probably benign	Het
Krbox5	T	C	13: 67,991,109 (GRCm39)		probably benign	Het
Lama1	A	G	17: 68,074,028 (GRCm39)	T935A	probably benign	Het
Lrrk1	G	T	7: 66,031,286 (GRCm39)	T4K	probably benign	Het
Lrrn1	G	A	6: 107,545,327 (GRCm39)	C375Y	probably damaging	Het
Maip1	T	C	1: 57,449,144 (GRCm39)		probably null	Het
Mecom	A	T	3: 30,041,237 (GRCm39)	I119N	probably damaging	Het
Mrpl2	G	A	17: 46,958,425 (GRCm39)	R69H	probably benign	Het
Muc16	A	G	9: 18,421,773 (GRCm39)	V8246A	possibly damaging	Het
Myh3	C	T	11: 66,979,562 (GRCm39)		probably benign	Het
Myocd	A	G	11: 65,087,220 (GRCm39)	S236P	probably benign	Het
Myot	A	T	18: 44,470,125 (GRCm39)	Q34L	possibly damaging	Het
Nlrp5	A	G	7: 23,118,064 (GRCm39)	D596G	probably damaging	Het
Npas2	T	C	1: 39,372,993 (GRCm39)	S415P	possibly damaging	Het
Obox2	A	G	7: 15,130,966 (GRCm39)	E66G	probably benign	Het
Or4f59	G	T	2: 111,872,591 (GRCm39)	T262K	probably benign	Het
Pcdh9	G	A	14: 94,125,741 (GRCm39)	P143L	probably damaging	Het
Phactr1	G	T	13: 43,248,373 (GRCm39)	V356L	probably damaging	Het
Pparg	A	T	6: 115,450,242 (GRCm39)	I414L	probably benign	Het
Rapgef6	A	T	11: 54,517,420 (GRCm39)	I371L	possibly damaging	Het
Rc3h1	T	C	1: 160,782,543 (GRCm39)	V674A	probably benign	Het
Rps6ka4	T	C	19: 6,815,517 (GRCm39)	Y159C	probably damaging	Het
Sf3b6	T	C	12: 4,876,808 (GRCm39)	I67T	possibly damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Spata17	T	C	1: 186,915,412 (GRCm39)		probably benign	Het
Ston1	A	G	17: 88,943,244 (GRCm39)	T217A	probably benign	Het
Tank	A	G	2: 61,480,442 (GRCm39)	D326G	possibly damaging	Het
Tbc1d9	T	A	8: 83,976,224 (GRCm39)	N594K	probably damaging	Het
Tfpi2	T	A	6: 3,965,507 (GRCm39)	T102S	probably benign	Het
Ulk4	T	G	9: 121,033,871 (GRCm39)	E589D	possibly damaging	Het
Usp40	A	T	1: 87,921,947 (GRCm39)	H305Q	probably damaging	Het
Vmn1r170	A	G	7: 23,305,754 (GRCm39)	K52R	probably benign	Het
Vmn1r194	A	G	13: 22,429,133 (GRCm39)	D250G	probably damaging	Het
Wdr6	A	T	9: 108,451,854 (GRCm39)	D676E	possibly damaging	Het
Xirp2	T	A	2: 67,341,179 (GRCm39)	V1140E	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
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'- ATGCCCTCAGCAAACATGGGATGG -3'
(R):5'- TAGGAGCCTTCACAATGCCTTGCC -3'

Sequencing Primer
(F):5'- GGCATAAATGTTCCCTCAAGGTC -3'
(R):5'- GCCTATTGTAAGTTACACACAGAGAC -3'

Posted On

2014-04-24