Mutagenetix > Incidental Mutation

Incidental Mutation 'R0550:Atp8b2'

45070

Institutional Source

Beutler Lab

Gene Symbol

Atp8b2

Ensembl Gene

ENSMUSG00000060671

Gene Name

ATPase, class I, type 8B, member 2

Synonyms

MMRRC Submission

038742-MU

Accession Numbers

Essential gene?

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

Stock #

R0550 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89846795-89870645 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 89866368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129641 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069805] [ENSMUST00000107396] [ENSMUST00000168276] [ENSMUST00000168880] [ENSMUST00000170696] [ENSMUST00000171422]

AlphaFold

P98199

Predicted Effect

probably benign
Transcript: ENSMUST00000069805

SMART Domains

Protein: ENSMUSP00000063384
Gene: ENSMUSG00000060671

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

SMART Domains

Protein: ENSMUSP00000103019
Gene: ENSMUSG00000060671

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: ENSMUST00000166347

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166705

Predicted Effect

probably benign
Transcript: ENSMUST00000168276

SMART Domains

Protein: ENSMUSP00000128423
Gene: ENSMUSG00000060671

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 benign
Transcript: ENSMUST00000168880

SMART Domains

Protein: ENSMUSP00000128726
Gene: ENSMUSG00000060671

Domain	Start	End	E-Value	Type
low complexity region	8	25	N/A	INTRINSIC
transmembrane domain	72	94	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170696

SMART Domains

Protein: ENSMUSP00000126142
Gene: ENSMUSG00000060671

Domain	Start	End	E-Value	Type
Pfam:E1-E2_ATPase	1	128	4.8e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171422

SMART Domains

Protein: ENSMUSP00000129641
Gene: ENSMUSG00000060671

Domain	Start	End	E-Value	Type
low complexity region	30	44	N/A	INTRINSIC

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 97.0%
20x: 94.2%

Validation Efficiency

99% (76/77)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,184,666 (GRCm39)	Y947N	probably damaging	Het
Acss3	C	A	10: 106,889,332 (GRCm39)	G163C	probably damaging	Het
Adcy10	A	G	1: 165,392,884 (GRCm39)	T1367A	probably benign	Het
Adcy2	A	T	13: 69,130,480 (GRCm39)	S136T	probably benign	Het
Ahdc1	G	A	4: 132,790,348 (GRCm39)	V530I	probably benign	Het
Aldh16a1	C	T	7: 44,795,653 (GRCm39)		probably null	Het
Ankrd36	T	C	11: 5,557,429 (GRCm39)		probably null	Het
Aqr	A	C	2: 113,963,457 (GRCm39)	N664K	probably damaging	Het
Atp6v1c1	T	C	15: 38,683,173 (GRCm39)		probably benign	Het
Bbx	T	C	16: 50,094,896 (GRCm39)		probably benign	Het
Bmper	T	A	9: 23,285,181 (GRCm39)	D243E	probably benign	Het
Casz1	GCCACCACCACCACCACCACCAC	GCCACCACCACCACCACCAC	4: 149,036,741 (GRCm39)		probably benign	Het
Catsperd	T	C	17: 56,970,427 (GRCm39)		probably null	Het
Ccdc92b	T	A	11: 74,520,771 (GRCm39)		probably null	Het
Cd2bp2	G	T	7: 126,792,996 (GRCm39)	T342K	probably damaging	Het
Clrn3	T	A	7: 135,130,154 (GRCm39)	I27F	possibly damaging	Het
Cnih3	TTGACGAG	T	1: 181,234,042 (GRCm39)		probably null	Het
Cntnap3	T	C	13: 64,909,814 (GRCm39)	T764A	possibly damaging	Het
Cttnbp2	T	G	6: 18,435,308 (GRCm39)	K183N	possibly damaging	Het
Cwc27	G	A	13: 104,941,457 (GRCm39)	P155L	probably damaging	Het
Dcaf10	T	C	4: 45,372,753 (GRCm39)	S389P	probably benign	Het
Ddx18	T	C	1: 121,483,104 (GRCm39)	K561E	probably benign	Het
Dkk3	A	G	7: 111,757,452 (GRCm39)	F51L	probably damaging	Het
Dnai1	C	T	4: 41,596,274 (GRCm39)	R20*	probably null	Het
Dr1	G	A	5: 108,417,471 (GRCm39)	G6S	probably benign	Het
Dync2h1	A	T	9: 7,120,954 (GRCm39)		probably null	Het
Eif3l	A	G	15: 78,961,067 (GRCm39)	Y16C	probably damaging	Het
Epb41	A	G	4: 131,702,924 (GRCm39)	I464T	probably damaging	Het
Erc2	A	G	14: 27,993,608 (GRCm39)	K546E	possibly damaging	Het
F830045P16Rik	T	C	2: 129,305,429 (GRCm39)	D315G	probably damaging	Het
Fads6	A	G	11: 115,187,503 (GRCm39)	I64T	probably benign	Het
Fshr	T	C	17: 89,352,553 (GRCm39)	N107S	probably benign	Het
Gbp11	A	T	5: 105,491,616 (GRCm39)	N60K	probably benign	Het
Gm2a	C	T	11: 54,994,491 (GRCm39)	Q54*	probably null	Het
Hydin	A	G	8: 111,314,407 (GRCm39)	D4297G	probably benign	Het
Il6st	G	A	13: 112,611,648 (GRCm39)		probably null	Het
Inpp4b	T	A	8: 82,723,966 (GRCm39)	H499Q	probably benign	Het
Kif5c	A	G	2: 49,648,924 (GRCm39)	K956R	possibly damaging	Het
Krt74	G	A	15: 101,669,114 (GRCm39)		noncoding transcript	Het
Map3k9	A	T	12: 81,772,555 (GRCm39)	L649Q	probably damaging	Het
Mdn1	A	G	4: 32,730,479 (GRCm39)	D2871G	probably benign	Het
Mylk4	T	C	13: 32,900,649 (GRCm39)	T294A	probably benign	Het
Nbeal2	C	T	9: 110,471,226 (GRCm39)	V252I	probably benign	Het
Nectin3	A	G	16: 46,279,183 (GRCm39)	I265T	possibly damaging	Het
Opn1sw	A	T	6: 29,380,203 (GRCm39)	L71Q	probably damaging	Het
Or4c12	A	G	2: 89,773,733 (GRCm39)	I242T	probably damaging	Het
Or52m1	G	A	7: 102,290,157 (GRCm39)	E235K	possibly damaging	Het
Or5aq6	G	T	2: 86,923,473 (GRCm39)	H89Q	probably benign	Het
Or5b97	A	T	19: 12,879,164 (GRCm39)		probably null	Het
Or5k17	A	G	16: 58,746,748 (GRCm39)	F62S	probably damaging	Het
Or8b46	T	A	9: 38,450,676 (GRCm39)	C162S	probably damaging	Het
Or8k27	A	T	2: 86,276,220 (GRCm39)	Y35*	probably null	Het
Pced1a	G	A	2: 130,261,553 (GRCm39)	P367S	probably benign	Het
Pkhd1	A	T	1: 20,417,447 (GRCm39)	M2568K	probably null	Het
Pla2r1	A	G	2: 60,255,694 (GRCm39)		probably null	Het
Plpp1	T	C	13: 112,971,519 (GRCm39)	I62T	probably benign	Het
Polr3g	G	A	13: 81,842,892 (GRCm39)	T41I	probably damaging	Het
Ptch2	T	C	4: 116,953,630 (GRCm39)		probably benign	Het
Sema4g	A	T	19: 44,986,104 (GRCm39)	H315L	probably benign	Het
Setd1b	G	T	5: 123,295,723 (GRCm39)	S1097I	unknown	Het
Sfxn4	A	G	19: 60,839,383 (GRCm39)		probably benign	Het
Sh3tc1	T	C	5: 35,857,128 (GRCm39)	E1237G	probably damaging	Het
Slc25a38	A	T	9: 119,952,709 (GRCm39)	N287I	probably benign	Het
Slc25a48	A	G	13: 56,596,811 (GRCm39)	T31A	probably benign	Het
Slc6a12	G	A	6: 121,333,877 (GRCm39)	V238I	probably damaging	Het
Slc8b1	A	G	5: 120,669,220 (GRCm39)		probably benign	Het
Slco4c1	A	C	1: 96,795,584 (GRCm39)	V158G	probably damaging	Het
Sptbn4	T	C	7: 27,063,803 (GRCm39)	T2208A	probably benign	Het
Srebf1	G	A	11: 60,092,502 (GRCm39)	T843I	probably benign	Het
Srl	A	G	16: 4,305,429 (GRCm39)	W101R	probably damaging	Het
St6galnac4	T	A	2: 32,484,031 (GRCm39)	C76*	probably null	Het
Tdrd3	C	A	14: 87,723,656 (GRCm39)	T290K	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trpm3	A	G	19: 22,965,176 (GRCm39)	E1547G	probably damaging	Het
Ubn1	A	G	16: 4,880,484 (GRCm39)		probably null	Het
Usp10	T	A	8: 120,674,540 (GRCm39)	I456K	probably damaging	Het
Usp6nl	A	G	2: 6,405,134 (GRCm39)		probably benign	Het
Vit	T	A	17: 78,932,222 (GRCm39)	V443E	possibly damaging	Het
Whamm	G	A	7: 81,235,972 (GRCm39)	V392I	possibly damaging	Het
Zfhx4	A	G	3: 5,465,554 (GRCm39)	K1904R	probably damaging	Het
Zfp352	A	T	4: 90,112,927 (GRCm39)	T356S	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
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
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'- CCTAACAGCAGATGGAAACTGGGC -3'
(R):5'- TCCTGGAGAATGACCTTGATGGGTG -3'

Sequencing Primer
(F):5'- CAGATGGAAACTGGGCAAAAAAAC -3'
(R):5'- CACAGTGAGACTTTTATCTCAGAGGG -3'

Posted On

2013-06-11