Mutagenetix > Incidental Mutations

Incidental Mutation 'R3706:Atp8b2'

271755

Institutional Source

Beutler Lab

Gene Symbol

Atp8b2

Ensembl Gene

ENSMUSG00000060671

Gene Name

ATPase, class I, type 8B, member 2

Synonyms

MMRRC Submission

040699-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

R3706 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89939481-89963508 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89945152 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 866 (F866I)

Ref Sequence

ENSEMBL: ENSMUSP00000063384 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069805] [ENSMUST00000107396] [ENSMUST00000166502] [ENSMUST00000168276] [ENSMUST00000170739]

Predicted Effect

probably damaging
Transcript: ENSMUST00000069805
AA Change: F866I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000063384
Gene: ENSMUSG00000060671
AA Change: F866I

Domain	Start	End	E-Value	Type
low complexity region	30	44	N/A	INTRINSIC
low complexity region	80	96	N/A	INTRINSIC
Pfam:E1-E2_ATPase	103	374	5.6e-18	PFAM
Pfam:HAD	408	842	1.3e-17	PFAM
Pfam:Hydrolase_like2	491	590	1e-11	PFAM
Pfam:Hydrolase	590	845	7.9e-8	PFAM
low complexity region	1133	1147	N/A	INTRINSIC
low complexity region	1167	1190	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107396
AA Change: F871I

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000103019
Gene: ENSMUSG00000060671
AA Change: F871I

Domain	Start	End	E-Value	Type
Pfam:PhoLip_ATPase_N	15	81	1.3e-29	PFAM
Pfam:E1-E2_ATPase	81	351	2.7e-9	PFAM
Pfam:HAD	389	847	1.5e-17	PFAM
Pfam:Cation_ATPase	472	571	4.3e-12	PFAM
Pfam:PhoLip_ATPase_C	864	1118	2e-84	PFAM
low complexity region	1138	1152	N/A	INTRINSIC
low complexity region	1172	1195	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163152

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163354

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166347

Predicted Effect

probably benign
Transcript: ENSMUST00000166502

SMART Domains

Protein: ENSMUSP00000132201
Gene: ENSMUSG00000060671

Domain	Start	End	E-Value	Type
SCOP:d1eula_	2	95	5e-7	SMART
low complexity region	100	109	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167257

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167442

Predicted Effect

probably benign
Transcript: ENSMUST00000168276
AA Change: F847I

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000128423
Gene: ENSMUSG00000060671
AA Change: F847I

Domain	Start	End	E-Value	Type
low complexity region	8	25	N/A	INTRINSIC
low complexity region	61	77	N/A	INTRINSIC
Pfam:E1-E2_ATPase	84	355	2.5e-18	PFAM
Pfam:HAD	389	823	7.9e-18	PFAM
Pfam:Hydrolase_like2	472	571	3.6e-12	PFAM
Pfam:Hydrolase	571	826	6.5e-8	PFAM
low complexity region	1114	1128	N/A	INTRINSIC
low complexity region	1148	1171	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170324

Predicted Effect

probably benign
Transcript: ENSMUST00000170739

SMART Domains

Protein: ENSMUSP00000127720
Gene: ENSMUSG00000060671

Domain	Start	End	E-Value	Type
Pfam:Hydrolase_like2	1	82	1.4e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171818

Predicted Effect

probably benign
Transcript: ENSMUST00000171941

SMART Domains

Protein: ENSMUSP00000130545
Gene: ENSMUSG00000060671

Domain	Start	End	E-Value	Type
Pfam:HAD	2	158	3.3e-8	PFAM
Pfam:Hydrolase_3	124	167	1.7e-6	PFAM

Meta Mutation Damage Score

0.3242

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (41/41)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,259,816	S2917P	unknown	Het
Ahnak2	G	A	12: 112,773,651	P523L	possibly damaging	Het
Ampd1	A	G	3: 103,088,311		probably benign	Het
Anxa10	T	A	8: 62,064,287	K167M	probably damaging	Het
Atxn2	T	C	5: 121,785,868		probably null	Het
Card11	G	A	5: 140,887,135	R608C	probably damaging	Het
Cd4	T	C	6: 124,879,388	K47E	probably benign	Het
Cenpl	G	A	1: 161,078,415	V120M	probably damaging	Het
Cfap69	G	T	5: 5,613,843	Y461*	probably null	Het
Crct1	C	A	3: 93,014,707		probably benign	Het
Ddx24	A	T	12: 103,417,416	V592E	probably damaging	Het
Dmc1	G	C	15: 79,562,581	P264A	probably damaging	Het
Donson	A	G	16: 91,686,161		probably benign	Het
Elovl5	C	A	9: 77,979,837	A170E	probably null	Het
Emilin1	A	G	5: 30,917,822	E469G	possibly damaging	Het
Fam178b	A	G	1: 36,608,448	Y235H	probably damaging	Het
Fgfr2	T	C	7: 130,198,431	T358A	probably benign	Het
Fpgs	A	T	2: 32,687,996	I138N	probably damaging	Het
Glb1l2	A	G	9: 26,771,020		probably benign	Het
Hspa4l	A	T	3: 40,781,693	N582I	possibly damaging	Het
Immt	T	C	6: 71,862,362	M226T	probably benign	Het
Kif21b	A	G	1: 136,159,410	N875S	probably benign	Het
Lama2	T	C	10: 27,138,996	D1572G	probably damaging	Het
Lelp1	A	C	3: 92,135,407	C112G	unknown	Het
Mctp2	A	G	7: 72,214,111		probably benign	Het
Mettl2	T	A	11: 105,139,726	I376N	probably benign	Het
Mycbp2	A	T	14: 103,156,414	S2904T	probably benign	Het
Nwd1	A	G	8: 72,667,116	T377A	possibly damaging	Het
Olfr1445	C	T	19: 12,883,896	T5I	probably damaging	Het
Olfr1494	T	A	19: 13,749,112	L2Q	probably benign	Het
Pappa2	A	T	1: 158,834,918	Y1162*	probably null	Het
Phip	T	C	9: 82,900,743	E883G	probably benign	Het
Phox2b	T	C	5: 67,096,529		probably benign	Het
Pigc	T	A	1: 161,971,094	M215K	probably benign	Het
Rab11b	G	C	17: 33,747,766	H162D	probably benign	Het
Reln	T	C	5: 21,995,589		probably benign	Het
Sgo2b	T	C	8: 63,928,145	E551G	probably damaging	Het
Sucla2	A	G	14: 73,591,052	K336R	probably damaging	Het
Zfx	A	G	X: 94,098,807	V36A	possibly damaging	Het
Zim1	T	C	7: 6,677,291	I458V	probably damaging	Het

Other mutations in Atp8b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02313:Atp8b2	APN	3	89949853	missense	probably damaging	1.00
IGL02472:Atp8b2	APN	3	89954239	missense	probably damaging	1.00
IGL02651:Atp8b2	APN	3	89954589	unclassified	probably null
IGL03057:Atp8b2	APN	3	89944186	missense	probably damaging	1.00
IGL03349:Atp8b2	APN	3	89957817	missense	probably damaging	1.00
IGL03382:Atp8b2	APN	3	89948521	missense	probably benign	0.00
R0550:Atp8b2	UTSW	3	89959061	splice site	probably benign
R0784:Atp8b2	UTSW	3	89957073	missense	probably damaging	0.99
R1249:Atp8b2	UTSW	3	89947804	missense	possibly damaging	0.77
R1447:Atp8b2	UTSW	3	89944170	missense	probably damaging	1.00
R1568:Atp8b2	UTSW	3	89949848	missense	probably damaging	0.98
R1647:Atp8b2	UTSW	3	89941784	missense	probably benign	0.30
R1736:Atp8b2	UTSW	3	89952694	missense	probably damaging	0.98
R1907:Atp8b2	UTSW	3	89946276	missense	probably benign	0.28
R2656:Atp8b2	UTSW	3	89941758	missense	probably benign	0.05
R2888:Atp8b2	UTSW	3	89958293	missense	probably damaging	1.00
R3708:Atp8b2	UTSW	3	89945152	missense	probably damaging	0.99
R3740:Atp8b2	UTSW	3	89946031	missense	probably benign
R3741:Atp8b2	UTSW	3	89946031	missense	probably benign
R3742:Atp8b2	UTSW	3	89946031	missense	probably benign
R3896:Atp8b2	UTSW	3	89957319	missense	probably damaging	1.00
R3914:Atp8b2	UTSW	3	89954448	missense	probably damaging	0.98
R4536:Atp8b2	UTSW	3	89941784	missense	probably benign	0.30
R4770:Atp8b2	UTSW	3	89957067	missense	probably damaging	0.97
R4859:Atp8b2	UTSW	3	89945980	missense	probably benign
R4905:Atp8b2	UTSW	3	89949008	missense	probably benign
R4925:Atp8b2	UTSW	3	89946623	critical splice donor site	probably null
R4955:Atp8b2	UTSW	3	89952920	unclassified	probably benign
R5433:Atp8b2	UTSW	3	89952909	unclassified	probably benign
R5458:Atp8b2	UTSW	3	89946022	missense	probably benign	0.00
R5517:Atp8b2	UTSW	3	89946031	missense	probably benign
R5663:Atp8b2	UTSW	3	89941794	missense	probably benign	0.19
R6056:Atp8b2	UTSW	3	89946221	missense	possibly damaging	0.79
R6821:Atp8b2	UTSW	3	89948173	missense	probably damaging	0.99
R7069:Atp8b2	UTSW	3	89954571	missense	probably damaging	1.00
R7178:Atp8b2	UTSW	3	89943672	missense	possibly damaging	0.88
R7533:Atp8b2	UTSW	3	89945524	missense
R7552:Atp8b2	UTSW	3	89946764	missense	probably damaging	1.00
Z1088:Atp8b2	UTSW	3	89954568	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAACGCATGCTACCTGGG -3'
(R):5'- ACTCTGTAAGGTCTCAGAACCAG -3'

Sequencing Primer
(F):5'- CATGCTACCTGGGCTGAGAAAC -3'
(R):5'- TCTGTAAGGTCTCAGAACCAGAGAGG -3'

Posted On

2015-03-25