Mutagenetix > Incidental Mutation

Incidental Mutation 'R6056:Atp8b2'

484369

Institutional Source

Beutler Lab

Gene Symbol

Atp8b2

Ensembl Gene

ENSMUSG00000060671

Gene Name

ATPase, class I, type 8B, member 2

Synonyms

MMRRC Submission

044223-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.209) question?

Stock #

R6056 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89846795-89870645 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89853528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 719 (V719E)

Ref Sequence

ENSEMBL: ENSMUSP00000063384 (fasta)

Gene Model

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

AlphaFold

P98199

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069805
AA Change: V719E

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000063384
Gene: ENSMUSG00000060671
AA Change: V719E

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: V700E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000103019
Gene: ENSMUSG00000060671
AA Change: V700E

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

probably benign
Transcript: ENSMUST00000168276
AA Change: V700E

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000128423
Gene: ENSMUSG00000060671
AA Change: V700E

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

unknown
Transcript: ENSMUST00000171941
AA Change: V34E

SMART Domains

Protein: ENSMUSP00000130545
Gene: ENSMUSG00000060671
AA Change: V34E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167442

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171818

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.4%

Validation Efficiency

96% (99/103)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	T	4: 73,861,115 (GRCm39)	W162R	probably benign	Het
4930438A08Rik	C	A	11: 58,184,464 (GRCm39)	P394H	probably damaging	Het
Aggf1	C	T	13: 95,508,123 (GRCm39)	C81Y	probably benign	Het
Agxt2	A	T	15: 10,378,963 (GRCm39)	D188V	probably damaging	Het
Angpt2	T	C	8: 18,748,132 (GRCm39)	K376R	probably benign	Het
Anxa5	A	G	3: 36,504,840 (GRCm39)	S241P	probably damaging	Het
Aox3	A	T	1: 58,209,018 (GRCm39)	K850N	probably damaging	Het
Arid5a	T	C	1: 36,358,473 (GRCm39)	M415T	probably benign	Het
Aspa	T	A	11: 73,199,578 (GRCm39)	N233I	probably damaging	Het
Atp4b	C	T	8: 13,438,782 (GRCm39)	R198Q	probably damaging	Het
Bltp2	C	A	11: 78,162,210 (GRCm39)	L691I	possibly damaging	Het
Cacna1s	T	G	1: 136,033,574 (GRCm39)	V1017G	probably damaging	Het
Chrna4	G	T	2: 180,671,235 (GRCm39)	Q174K	probably damaging	Het
Chrnb1	A	T	11: 69,677,765 (GRCm39)	V329D	probably damaging	Het
Chst14	T	C	2: 118,758,214 (GRCm39)	L336P	probably damaging	Het
Clec2e	T	C	6: 129,077,772 (GRCm39)	D22G	probably benign	Het
Csrnp2	A	C	15: 100,380,263 (GRCm39)	S343A	probably benign	Het
Dapl1	C	A	2: 59,315,057 (GRCm39)	A2E	probably damaging	Het
Dlec1	G	T	9: 118,950,991 (GRCm39)	R519L	probably damaging	Het
Dmgdh	T	A	13: 93,845,251 (GRCm39)	F415I	possibly damaging	Het
Dmgdh	T	C	13: 93,888,834 (GRCm39)	V824A	probably damaging	Het
Dnah11	T	G	12: 117,892,191 (GRCm39)	T3661P	probably benign	Het
Dnah3	A	G	7: 119,629,254 (GRCm39)	F1434L	probably damaging	Het
Dnajc11	C	A	4: 152,062,583 (GRCm39)		probably benign	Het
Dot1l	A	G	10: 80,621,929 (GRCm39)	E527G	probably damaging	Het
Drc7	T	C	8: 95,801,679 (GRCm39)	L680P	probably damaging	Het
Dysf	T	C	6: 84,083,844 (GRCm39)	Y742H	probably benign	Het
Ece1	A	G	4: 137,688,958 (GRCm39)	Y665C	probably damaging	Het
Emc1	A	G	4: 139,081,533 (GRCm39)	K54E	possibly damaging	Het
Enoph1	C	T	5: 100,215,760 (GRCm39)	T247M	probably damaging	Het
Exoc2	T	C	13: 31,084,812 (GRCm39)	K383R	probably benign	Het
Fam227b	A	T	2: 125,962,972 (GRCm39)	H181Q	probably damaging	Het
Fsip2	A	T	2: 82,816,017 (GRCm39)	M3917L	probably benign	Het
Gtf3a	T	A	5: 146,892,338 (GRCm39)		probably benign	Het
Hgfac	T	A	5: 35,198,973 (GRCm39)	C11*	probably null	Het
Hmcn1	C	A	1: 150,539,660 (GRCm39)	A2944S	probably damaging	Het
Hps5	T	A	7: 46,416,521 (GRCm39)	Y947F	probably benign	Het
Ighv2-5	A	T	12: 113,649,120 (GRCm39)	I111K	probably benign	Het
Inpp5e	A	T	2: 26,297,860 (GRCm39)	L247*	probably null	Het
Kbtbd11	T	C	8: 15,077,577 (GRCm39)	S59P	probably benign	Het
Kctd19	G	A	8: 106,123,082 (GRCm39)	H111Y	probably damaging	Het
Kif1a	T	C	1: 92,952,370 (GRCm39)	D1303G	probably damaging	Het
Kif7	A	G	7: 79,363,842 (GRCm39)	V22A	possibly damaging	Het
Lrit3	A	T	3: 129,583,004 (GRCm39)	C328S	probably damaging	Het
Lrrc37a	G	T	11: 103,388,484 (GRCm39)	Q2314K	unknown	Het
LTO1	G	T	7: 144,469,023 (GRCm39)	V17L	possibly damaging	Het
Lurap1	G	T	4: 115,994,599 (GRCm39)	P211T	possibly damaging	Het
Mbd2	T	A	18: 70,713,874 (GRCm39)	N5K	possibly damaging	Het
Mbtps1	A	C	8: 120,242,341 (GRCm39)	L894V	probably benign	Het
Mefv	G	A	16: 3,525,906 (GRCm39)	S787F	possibly damaging	Het
Miip	T	A	4: 147,946,792 (GRCm39)	I289F	probably damaging	Het
Mogat2	T	A	7: 98,872,720 (GRCm39)	I155F	possibly damaging	Het
Mpp3	C	A	11: 101,902,515 (GRCm39)		probably null	Het
Mrrf	A	G	2: 36,067,233 (GRCm39)	K220E	probably damaging	Het
Mtmr6	C	T	14: 60,535,619 (GRCm39)	P485L	probably damaging	Het
Mtor	G	A	4: 148,621,892 (GRCm39)	R1896K	probably benign	Het
Myh3	C	T	11: 66,978,371 (GRCm39)	P453S	probably benign	Het
Nebl	A	G	2: 17,455,045 (GRCm39)	V112A	probably benign	Het
Nmnat2	G	A	1: 152,950,480 (GRCm39)	W55*	probably null	Het
Nprl3	A	G	11: 32,217,432 (GRCm39)	S37P	probably damaging	Het
Or4a73	T	C	2: 89,421,445 (GRCm39)	N5D	possibly damaging	Het
Pcdhga4	T	G	18: 37,819,383 (GRCm39)	S311A	probably benign	Het
Pcdhgb6	T	C	18: 37,876,165 (GRCm39)	V291A	probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Peg3	T	C	7: 6,712,570 (GRCm39)	E884G	probably damaging	Het
Pgpep1	G	A	8: 71,105,101 (GRCm39)	T53M	probably damaging	Het
Phf12	A	G	11: 77,900,341 (GRCm39)	T146A	probably benign	Het
Polr3k	C	G	2: 181,506,281 (GRCm39)	N10K	probably damaging	Het
Prickle4	C	A	17: 48,001,135 (GRCm39)	G144C	probably damaging	Het
Ptpn6	T	C	6: 124,709,398 (GRCm39)	Y25C	probably damaging	Het
Rad1	A	G	15: 10,488,160 (GRCm39)	I95V	probably damaging	Het
Rad23b	A	G	4: 55,382,540 (GRCm39)	T248A	probably benign	Het
Rapgef3	T	C	15: 97,656,742 (GRCm39)	D299G	probably damaging	Het
Rcc2	T	G	4: 140,444,335 (GRCm39)	V342G	possibly damaging	Het
Rgs3	G	T	4: 62,544,143 (GRCm39)	R136L	probably damaging	Het
Scube2	A	T	7: 109,432,220 (GRCm39)	C399*	probably null	Het
Serpinb3d	T	C	1: 107,007,452 (GRCm39)	Y178C	probably damaging	Het
Slc1a7	A	G	4: 107,869,458 (GRCm39)	T508A	probably benign	Het
Slc29a4	C	T	5: 142,705,832 (GRCm39)	R439C	probably damaging	Het
Sntg2	A	G	12: 30,362,560 (GRCm39)	I62T	probably benign	Het
Sowaha	G	A	11: 53,369,914 (GRCm39)	P274L	probably damaging	Het
Sptan1	A	G	2: 29,886,794 (GRCm39)	N869S	probably benign	Het
Stx18	C	A	5: 38,263,908 (GRCm39)	A64D	probably damaging	Het
Stxbp5	A	G	10: 9,646,430 (GRCm39)	V94A	probably benign	Het
Sult1a1	T	A	7: 126,275,624 (GRCm39)		probably null	Het
Susd1	G	T	4: 59,379,687 (GRCm39)	H313Q	possibly damaging	Het
Tdrd9	A	T	12: 111,951,475 (GRCm39)	K88N	probably damaging	Het
Tlr5	A	C	1: 182,801,603 (GRCm39)	R302S	possibly damaging	Het
Tnr	C	T	1: 159,714,479 (GRCm39)	T786I	probably damaging	Het
Tprg1l	A	G	4: 154,244,552 (GRCm39)	S148P	probably damaging	Het
Trpc4ap	T	A	2: 155,512,994 (GRCm39)	N127I	probably damaging	Het
Tulp2	T	A	7: 45,139,797 (GRCm39)		probably null	Het
Uggt2	C	T	14: 119,273,381 (GRCm39)		probably null	Het
Ulk4	T	A	9: 121,102,021 (GRCm39)	Y19F	probably damaging	Het
Upf1	T	C	8: 70,785,687 (GRCm39)	Y1053C	probably damaging	Het
Vars2	A	T	17: 35,976,680 (GRCm39)	H223Q	probably benign	Het
Vmn2r106	T	A	17: 20,487,806 (GRCm39)		probably null	Het
Ythdc2	T	A	18: 44,973,277 (GRCm39)	F305I	probably damaging	Het
Zfp281	T	C	1: 136,553,178 (GRCm39)	F52S	possibly damaging	Het
Zfp292	A	T	4: 34,809,784 (GRCm39)	C1087S	probably damaging	Het
Zfp335	A	T	2: 164,737,018 (GRCm39)		probably null	Het

Other mutations in Atp8b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02313:Atp8b2	APN	3	89,857,160 (GRCm39)	missense	probably damaging	1.00
IGL02472:Atp8b2	APN	3	89,861,546 (GRCm39)	missense	probably damaging	1.00
IGL02651:Atp8b2	APN	3	89,861,896 (GRCm39)	splice site	probably null
IGL03057:Atp8b2	APN	3	89,851,493 (GRCm39)	missense	probably damaging	1.00
IGL03349:Atp8b2	APN	3	89,865,124 (GRCm39)	missense	probably damaging	1.00
IGL03382:Atp8b2	APN	3	89,855,828 (GRCm39)	missense	probably benign	0.00
R0550:Atp8b2	UTSW	3	89,866,368 (GRCm39)	splice site	probably benign
R0784:Atp8b2	UTSW	3	89,864,380 (GRCm39)	missense	probably damaging	0.99
R1249:Atp8b2	UTSW	3	89,855,111 (GRCm39)	missense	possibly damaging	0.77
R1447:Atp8b2	UTSW	3	89,851,477 (GRCm39)	missense	probably damaging	1.00
R1568:Atp8b2	UTSW	3	89,857,155 (GRCm39)	missense	probably damaging	0.98
R1647:Atp8b2	UTSW	3	89,849,091 (GRCm39)	missense	probably benign	0.30
R1736:Atp8b2	UTSW	3	89,860,001 (GRCm39)	missense	probably damaging	0.98
R1907:Atp8b2	UTSW	3	89,853,583 (GRCm39)	missense	probably benign	0.28
R2656:Atp8b2	UTSW	3	89,849,065 (GRCm39)	missense	probably benign	0.05
R2888:Atp8b2	UTSW	3	89,865,600 (GRCm39)	missense	probably damaging	1.00
R3706:Atp8b2	UTSW	3	89,852,459 (GRCm39)	missense	probably damaging	0.99
R3708:Atp8b2	UTSW	3	89,852,459 (GRCm39)	missense	probably damaging	0.99
R3740:Atp8b2	UTSW	3	89,853,338 (GRCm39)	missense	probably benign
R3741:Atp8b2	UTSW	3	89,853,338 (GRCm39)	missense	probably benign
R3742:Atp8b2	UTSW	3	89,853,338 (GRCm39)	missense	probably benign
R3896:Atp8b2	UTSW	3	89,864,626 (GRCm39)	missense	probably damaging	1.00
R3914:Atp8b2	UTSW	3	89,861,755 (GRCm39)	missense	probably damaging	0.98
R4536:Atp8b2	UTSW	3	89,849,091 (GRCm39)	missense	probably benign	0.30
R4770:Atp8b2	UTSW	3	89,864,374 (GRCm39)	missense	probably damaging	0.97
R4859:Atp8b2	UTSW	3	89,853,287 (GRCm39)	missense	probably benign
R4905:Atp8b2	UTSW	3	89,856,315 (GRCm39)	missense	probably benign
R4925:Atp8b2	UTSW	3	89,853,930 (GRCm39)	critical splice donor site	probably null
R4955:Atp8b2	UTSW	3	89,860,227 (GRCm39)	unclassified	probably benign
R5433:Atp8b2	UTSW	3	89,860,216 (GRCm39)	unclassified	probably benign
R5458:Atp8b2	UTSW	3	89,853,329 (GRCm39)	missense	probably benign	0.00
R5517:Atp8b2	UTSW	3	89,853,338 (GRCm39)	missense	probably benign
R5663:Atp8b2	UTSW	3	89,849,101 (GRCm39)	missense	probably benign	0.19
R6821:Atp8b2	UTSW	3	89,855,480 (GRCm39)	missense	probably damaging	0.99
R7069:Atp8b2	UTSW	3	89,861,878 (GRCm39)	missense	probably damaging	1.00
R7178:Atp8b2	UTSW	3	89,850,979 (GRCm39)	missense	possibly damaging	0.88
R7533:Atp8b2	UTSW	3	89,852,831 (GRCm39)	missense
R7552:Atp8b2	UTSW	3	89,854,071 (GRCm39)	missense	probably damaging	1.00
R8061:Atp8b2	UTSW	3	89,853,527 (GRCm39)	unclassified	probably benign
R8491:Atp8b2	UTSW	3	89,865,676 (GRCm39)	missense	probably damaging	1.00
R8827:Atp8b2	UTSW	3	89,853,307 (GRCm39)	missense
R8913:Atp8b2	UTSW	3	89,852,830 (GRCm39)	missense
R8996:Atp8b2	UTSW	3	89,850,696 (GRCm39)	missense	probably damaging	1.00
R9154:Atp8b2	UTSW	3	89,865,927 (GRCm39)	missense	possibly damaging	0.52
R9341:Atp8b2	UTSW	3	89,855,811 (GRCm39)	missense	possibly damaging	0.95
R9343:Atp8b2	UTSW	3	89,855,811 (GRCm39)	missense	possibly damaging	0.95
R9439:Atp8b2	UTSW	3	89,851,492 (GRCm39)	missense
R9466:Atp8b2	UTSW	3	89,851,484 (GRCm39)	missense	probably benign	0.33
R9590:Atp8b2	UTSW	3	89,865,693 (GRCm39)	nonsense	probably null
R9651:Atp8b2	UTSW	3	89,865,603 (GRCm39)	missense	probably damaging	1.00
R9739:Atp8b2	UTSW	3	89,853,403 (GRCm39)	missense	probably benign
R9778:Atp8b2	UTSW	3	89,861,865 (GRCm39)	missense	possibly damaging	0.95
Z1088:Atp8b2	UTSW	3	89,861,875 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAGAAAGGTTCCCCTGGTAGG -3'
(R):5'- GACACACTGGTCCTATCGTACC -3'

Posted On

2017-07-14