Mutagenetix > Incidental Mutation

Incidental Mutation 'R6821:Atp8b2'

537609

Institutional Source

Beutler Lab

Gene Symbol

Atp8b2

Ensembl Gene

ENSMUSG00000060671

Gene Name

ATPase, class I, type 8B, member 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

R6821 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89939481-89963508 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89948173 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 506 (F506I)

Ref Sequence

ENSEMBL: ENSMUSP00000128423 (fasta)

Gene Model

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

AlphaFold

P98199

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069805
AA Change: F525I

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000063384
Gene: ENSMUSG00000060671
AA Change: F525I

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 damaging
Transcript: ENSMUST00000107396
AA Change: F506I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103019
Gene: ENSMUSG00000060671
AA Change: F506I

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

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

probably damaging
Transcript: ENSMUST00000168276
AA Change: F506I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128423
Gene: ENSMUSG00000060671
AA Change: F506I

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

probably damaging
Transcript: ENSMUST00000170739
AA Change: F27I

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000127720
Gene: ENSMUSG00000060671
AA Change: F27I

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

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

0.2703

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (63/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	C	19: 55,288,836	I417T	probably benign	Het
Adamts12	A	C	15: 11,152,048	K208T	probably benign	Het
Adamts8	T	A	9: 30,956,626	L582Q	probably benign	Het
Aim2	C	G	1: 173,463,980	T317R	probably damaging	Het
Ano9	A	T	7: 141,107,256	F357I	possibly damaging	Het
Aox3	T	C	1: 58,150,388	V416A	probably benign	Het
Arhgap21	A	C	2: 20,848,848	F1901C	probably benign	Het
Atp9b	A	T	18: 80,847,248	L292H	probably damaging	Het
C2cd5	A	G	6: 143,017,986	V891A	probably damaging	Het
Ccnt2	T	C	1: 127,803,335	S650P	probably damaging	Het
Cdhr3	T	A	12: 33,035,045	N791Y	probably damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 104,309,702		probably null	Het
D630003M21Rik	A	C	2: 158,204,774	L761R	probably damaging	Het
Draxin	G	T	4: 148,115,691	Q101K	possibly damaging	Het
Dtx3l	A	T	16: 35,933,060	L392Q	probably damaging	Het
Eif3d	A	G	15: 77,961,655	S389P	possibly damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Epha4	T	C	1: 77,382,945	N757S	possibly damaging	Het
Fam228b	T	C	12: 4,763,083	I96V	probably benign	Het
Gars	A	G	6: 55,079,338	E728G	probably benign	Het
Gldn	T	C	9: 54,338,770	M535T	probably benign	Het
Gm13089	A	T	4: 143,699,304	L23*	probably null	Het
Gm47985	A	G	1: 151,183,036	T143A	possibly damaging	Het
Gpr6	T	C	10: 41,071,008	T193A	probably benign	Het
Grik5	C	T	7: 25,046,355	R431Q	possibly damaging	Het
Hecw1	T	A	13: 14,264,134	Y1315F	probably damaging	Het
Hs3st2	A	G	7: 121,500,522	D197G	possibly damaging	Het
Igsf9	T	C	1: 172,484,493	I2T	probably benign	Het
Ints9	A	G	14: 65,037,458	E621G	probably benign	Het
Itm2b	G	A	14: 73,366,467	P47S	probably benign	Het
Map10	A	G	8: 125,670,399	K177R	probably benign	Het
Mdh2	T	C	5: 135,789,671	F260S	possibly damaging	Het
Mtmr11	A	G	3: 96,170,407	T573A	probably benign	Het
Mycbp2	A	T	14: 103,139,409	I3812N	probably damaging	Het
Myo15	A	G	11: 60,524,475	N3403S	probably damaging	Het
Nvl	G	A	1: 181,126,970	Q343*	probably null	Het
Ocstamp	A	T	2: 165,397,922	S115T	probably benign	Het
Olfr632	A	T	7: 103,937,586	I69F	probably benign	Het
Otoa	G	A	7: 121,092,847		probably null	Het
Pcdhb20	A	T	18: 37,506,122	N567I	probably damaging	Het
Pgm5	A	T	19: 24,861,647	V48E	possibly damaging	Het
Phlpp1	T	A	1: 106,386,444	S1182R	probably damaging	Het
Pik3r4	T	A	9: 105,650,606	L386Q	probably damaging	Het
Pop1	A	G	15: 34,508,639	K287E	possibly damaging	Het
Rad54b	A	G	4: 11,612,777	D803G	probably damaging	Het
Rbm26	G	A	14: 105,116,964		probably benign	Het
Rspry1	C	T	8: 94,635,431	Q113*	probably null	Het
Siah2	T	A	3: 58,691,770	S16C	probably benign	Het
Sirpa	C	A	2: 129,630,097	D481E	probably damaging	Het
Slc38a7	A	C	8: 95,844,920	D227E	probably benign	Het
Smc5	A	G	19: 23,242,787	V438A	probably benign	Het
Spast	A	G	17: 74,351,962	E108G	probably benign	Het
Speg	A	G	1: 75,417,903	E1752G	possibly damaging	Het
Tanc2	T	G	11: 105,886,490		probably null	Het
Tgfbi	T	C	13: 56,626,137	I243T	possibly damaging	Het
Tlr12	T	C	4: 128,616,892	S522G	possibly damaging	Het
Trav14-3	A	G	14: 53,763,472	I47V	probably benign	Het
Tsc22d4	T	C	5: 137,762,644	V109A	possibly damaging	Het
Ttl	G	A	2: 129,068,915	R73H	probably damaging	Het
Usp34	C	T	11: 23,367,491	T850I	possibly damaging	Het
Vdac3	T	C	8: 22,580,475	Y140C	probably damaging	Het
Vmn2r120	T	C	17: 57,536,659	R62G	probably benign	Het
Vmn2r17	T	A	5: 109,429,465	Y461N	probably damaging	Het
Wt1	T	A	2: 105,172,267	F493I	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	splice site	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
R3706:Atp8b2	UTSW	3	89945152	missense	probably damaging	0.99
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
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
R8061:Atp8b2	UTSW	3	89946220	unclassified	probably benign
R8491:Atp8b2	UTSW	3	89958369	missense	probably damaging	1.00
R8827:Atp8b2	UTSW	3	89946000	missense
R8913:Atp8b2	UTSW	3	89945523	missense
R8996:Atp8b2	UTSW	3	89943389	missense	probably damaging	1.00
R9154:Atp8b2	UTSW	3	89958620	missense	possibly damaging	0.52
R9341:Atp8b2	UTSW	3	89948504	missense	possibly damaging	0.95
R9343:Atp8b2	UTSW	3	89948504	missense	possibly damaging	0.95
R9439:Atp8b2	UTSW	3	89944185	missense
R9466:Atp8b2	UTSW	3	89944177	missense	probably benign	0.33
R9590:Atp8b2	UTSW	3	89958386	nonsense	probably null
Z1088:Atp8b2	UTSW	3	89954568	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGATTCCGAACTGTGAATGGC -3'
(R):5'- ACACACGCACGAGTTCTTCC -3'

Sequencing Primer
(F):5'- CGACCAGGCCTATCTGCTGTC -3'
(R):5'- GTGTCACACTGTCATGTCAGAAG -3'

Posted On

2018-10-18