Mutagenetix > Incidental Mutation

Incidental Mutation 'R4859:Atp8b2'

372302

Institutional Source

Beutler Lab

Gene Symbol

Atp8b2

Ensembl Gene

ENSMUSG00000060671

Gene Name

ATPase, class I, type 8B, member 2

Synonyms

MMRRC Submission

042470-MU

Accession Numbers

Essential gene?

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

Stock #

R4859 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89846795-89870645 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89853287 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 743 (T743S)

Ref Sequence

ENSEMBL: ENSMUSP00000128423 (fasta)

Gene Model

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

AlphaFold

P98199

Predicted Effect

probably benign
Transcript: ENSMUST00000069805
AA Change: T762S

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

SMART Domains

Protein: ENSMUSP00000063384
Gene: ENSMUSG00000060671
AA Change: T762S

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: T767S

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

SMART Domains

Protein: ENSMUSP00000103019
Gene: ENSMUSG00000060671
AA Change: T767S

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

unknown
Transcript: ENSMUST00000171941
AA Change: T77S

SMART Domains

Protein: ENSMUSP00000130545
Gene: ENSMUSG00000060671
AA Change: T77S

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

probably benign
Transcript: ENSMUST00000168276
AA Change: T743S

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

SMART Domains

Protein: ENSMUSP00000128423
Gene: ENSMUSG00000060671
AA Change: T743S

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: ENSMUST00000167442

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171818

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

Meta Mutation Damage Score

0.0708

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.5%
20x: 89.5%

Validation Efficiency

100% (112/112)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	T	A	8: 41,207,580 (GRCm39)	V282E	probably benign	Het
Adam26b	T	C	8: 43,973,296 (GRCm39)	T569A	possibly damaging	Het
Adam6a	A	G	12: 113,509,609 (GRCm39)	N661D	probably damaging	Het
Adck1	G	A	12: 88,407,865 (GRCm39)	A199T	probably benign	Het
Adhfe1	A	G	1: 9,628,438 (GRCm39)	Y270C	probably damaging	Het
Aldh16a1	C	T	7: 44,796,731 (GRCm39)	R256H	probably benign	Het
Ap5z1	T	C	5: 142,459,748 (GRCm39)	M466T	possibly damaging	Het
Aspm	C	T	1: 139,397,131 (GRCm39)	L908F	probably damaging	Het
Bag2	G	T	1: 33,786,022 (GRCm39)	T100K	probably damaging	Het
Camk2a	A	G	18: 61,076,246 (GRCm39)		probably benign	Het
Ccdc158	A	G	5: 92,781,262 (GRCm39)	Y848H	probably damaging	Het
Ccp110	T	G	7: 118,324,653 (GRCm39)	V725G	possibly damaging	Het
Cdh6	A	G	15: 13,051,418 (GRCm39)	V405A	probably benign	Het
Ces2g	T	C	8: 105,694,094 (GRCm39)		probably null	Het
Cfap157	A	G	2: 32,667,554 (GRCm39)	F510L	probably benign	Het
Chd3	A	T	11: 69,250,722 (GRCm39)	M669K	possibly damaging	Het
Cnot10	C	T	9: 114,456,532 (GRCm39)	A168T	probably damaging	Het
Crybg1	A	G	10: 43,868,565 (GRCm39)	V1371A	probably damaging	Het
Dars2	A	G	1: 160,872,560 (GRCm39)	L547P	probably damaging	Het
Dis3	A	G	14: 99,325,226 (GRCm39)	C483R	probably damaging	Het
Dnah7b	T	A	1: 46,395,762 (GRCm39)	L3888Q	probably damaging	Het
Dpysl2	A	T	14: 67,066,888 (GRCm39)	Y182N	probably damaging	Het
Eif4g1	T	A	16: 20,500,923 (GRCm39)	F509L	probably benign	Het
Evc	T	C	5: 37,458,253 (GRCm39)	T85A	probably damaging	Het
Farsb	T	C	1: 78,444,609 (GRCm39)	T283A	probably benign	Het
Fem1al	G	T	11: 29,775,178 (GRCm39)	A93E	probably damaging	Het
Fgf14	C	A	14: 124,429,845 (GRCm39)	R30L	possibly damaging	Het
Gbe1	T	C	16: 70,275,289 (GRCm39)	L363P	probably damaging	Het
Gcg	A	G	2: 62,307,189 (GRCm39)	V124A	probably damaging	Het
Glb1l	A	G	1: 75,176,963 (GRCm39)		probably benign	Het
Gm5431	T	C	11: 48,780,409 (GRCm39)	E449G	probably damaging	Het
Gon4l	T	C	3: 88,802,655 (GRCm39)	S1089P	probably benign	Het
Hgd	T	C	16: 37,409,111 (GRCm39)	L25P	probably damaging	Het
Hnf1a	T	C	5: 115,093,311 (GRCm39)	H318R	possibly damaging	Het
Hsd17b7	A	C	1: 169,794,826 (GRCm39)	V71G	possibly damaging	Het
Hydin	T	C	8: 111,233,126 (GRCm39)	S1742P	possibly damaging	Het
Insyn2b	A	G	11: 34,353,154 (GRCm39)	S399G	probably benign	Het
Kank2	T	C	9: 21,691,078 (GRCm39)	E552G	probably benign	Het
Kcnq4	C	A	4: 120,573,810 (GRCm39)	R217L	probably damaging	Het
Klrg2	T	C	6: 38,604,540 (GRCm39)	*201W	probably null	Het
Kndc1	T	C	7: 139,501,821 (GRCm39)	S953P	probably benign	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Lonp1	A	G	17: 56,933,587 (GRCm39)	V96A	probably benign	Het
Mgat4e	T	C	1: 134,469,478 (GRCm39)	K189E	possibly damaging	Het
Msantd5f8	A	G	4: 73,805,457 (GRCm39)	S351P	probably damaging	Het
Msh2	G	A	17: 88,026,187 (GRCm39)	V722I	possibly damaging	Het
Mtcl3	A	C	10: 29,026,390 (GRCm39)	M491L	probably benign	Het
N4bp2	T	C	5: 65,982,641 (GRCm39)	Y1632H	probably damaging	Het
Nlrc4	T	G	17: 74,743,032 (GRCm39)	K862T	probably damaging	Het
Notch4	A	T	17: 34,806,154 (GRCm39)	Q1750L	probably damaging	Het
Obscn	C	T	11: 58,972,849 (GRCm39)	V2066I	possibly damaging	Het
Or2v2	T	C	11: 49,003,993 (GRCm39)	K187E	probably damaging	Het
Or4c15	T	A	2: 88,760,627 (GRCm39)	I11L	probably benign	Het
Or4f14b	A	T	2: 111,775,156 (GRCm39)	I215N	probably damaging	Het
Or52d13	A	T	7: 103,110,243 (GRCm39)	Y57*	probably null	Het
Or5m8	T	C	2: 85,823,075 (GRCm39)	S305P	probably damaging	Het
Pde7a	T	A	3: 19,295,655 (GRCm39)		probably benign	Het
Pign	A	T	1: 105,575,892 (GRCm39)	Y249*	probably null	Het
Ppp1r17	A	T	6: 56,003,449 (GRCm39)	E87D	probably damaging	Het
Prss3	T	A	6: 41,350,857 (GRCm39)	Q211L	probably damaging	Het
Rapgef6	A	G	11: 54,526,989 (GRCm39)	E413G	probably benign	Het
Rnf150	A	G	8: 83,590,712 (GRCm39)	H25R	probably damaging	Het
Scamp2	T	C	9: 57,488,934 (GRCm39)		probably null	Het
Scap	T	A	9: 110,203,410 (GRCm39)		probably benign	Het
Sdc2	A	C	15: 33,032,602 (GRCm39)	K175N	probably damaging	Het
Serpinb6d	T	A	13: 33,851,547 (GRCm39)		probably null	Het
Sh3tc2	A	G	18: 62,146,164 (GRCm39)	N1181S	probably benign	Het
Slc44a2	T	C	9: 21,259,441 (GRCm39)	I46T	probably damaging	Het
Slfn8	A	G	11: 82,908,540 (GRCm39)	M1T	probably null	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Spata1	C	G	3: 146,175,529 (GRCm39)	D326H	probably damaging	Het
Tbck	T	G	3: 132,507,288 (GRCm39)	S753R	probably benign	Het
Tdp1	A	G	12: 99,876,070 (GRCm39)	I340M	probably benign	Het
Tmprss6	T	A	15: 78,330,877 (GRCm39)	Y50F	probably damaging	Het
Trank1	T	A	9: 111,194,078 (GRCm39)	S701T	probably benign	Het
Trbv17	A	T	6: 41,140,223 (GRCm39)	N26I	probably benign	Het
Trip12	A	T	1: 84,771,531 (GRCm39)	S248T	probably damaging	Het
Vmn2r53	T	G	7: 12,335,330 (GRCm39)	Q110P	probably damaging	Het
Vmn2r75	A	G	7: 85,797,611 (GRCm39)	V734A	probably benign	Het
Wfdc11	A	T	2: 164,507,415 (GRCm39)	M14K	probably null	Het
Xcr1	T	A	9: 123,685,712 (GRCm39)	M17L	probably benign	Het
Zbtb40	A	G	4: 136,716,070 (GRCm39)	I965T	probably damaging	Het
Zfp760	A	T	17: 21,942,511 (GRCm39)	H562L	probably damaging	Het
Zfp760	A	T	17: 21,942,516 (GRCm39)	R564*	probably null	Het
Znf41-ps	T	A	4: 145,555,283 (GRCm39)		noncoding transcript	Het
Zyg11a	A	T	4: 108,067,387 (GRCm39)	I41N	probably damaging	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
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
R6056:Atp8b2	UTSW	3	89,853,528 (GRCm39)	missense	possibly damaging	0.79
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'- AGAGCCCTTTCTGCCAAGAG -3'
(R):5'- TGTAGTCACAGGCCACACTG -3'

Sequencing Primer
(F):5'- CCTTTCTGCCAAGAGGGAAC -3'
(R):5'- GCTGCAGAACCAGAACTGTGC -3'

Posted On

2016-03-01