Mutagenetix > Incidental Mutations

Incidental Mutation 'R5433:Atp8b2'

428139

Institutional Source

Beutler Lab

Gene Symbol

Atp8b2

Ensembl Gene

ENSMUSG00000060671

Gene Name

ATPase, class I, type 8B, member 2

Synonyms

MMRRC Submission

042998-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

R5433 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89939481-89963508 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 89952909 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127720 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069805] [ENSMUST00000107396] [ENSMUST00000168276] [ENSMUST00000170696] [ENSMUST00000170739]

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: ENSMUST00000163354

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166347

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166705

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167257

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: 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: 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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

100% (58/58)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019D03Rik	T	C	1: 52,925,498	S24G	probably damaging	Het
1810064F22Rik	A	G	9: 22,207,743		noncoding transcript	Het
Aacs	A	T	5: 125,515,014	M589L	probably benign	Het
Adamts8	A	C	9: 30,961,716	H739P	probably benign	Het
BC030500	A	G	8: 58,913,009		probably benign	Het
Btnl9	T	A	11: 49,176,003		probably benign	Het
Cd74	G	T	18: 60,807,921	A31S	probably benign	Het
Ceacam3	G	A	7: 17,159,883	A440T	possibly damaging	Het
Ces1d	G	A	8: 93,186,036	T258I	probably benign	Het
Col10a1	A	G	10: 34,390,739		probably benign	Het
Coro1b	C	T	19: 4,153,450	A430V	probably benign	Het
Cyp2c65	A	T	19: 39,093,484	I485L	probably benign	Het
Dio1	A	T	4: 107,306,780		probably benign	Het
Dmxl1	G	A	18: 49,867,899		probably null	Het
Elp6	A	G	9: 110,315,783	Y136C	probably damaging	Het
Gm1966	T	A	7: 106,600,107		noncoding transcript	Het
Gon4l	A	T	3: 88,896,225	Q1382L	possibly damaging	Het
Guca1a	T	C	17: 47,400,370	E17G	probably damaging	Het
Gucy2d	G	A	7: 98,449,775	G267E	probably damaging	Het
Hspg2	T	A	4: 137,528,794		probably null	Het
Il1a	G	T	2: 129,307,901	D26E	possibly damaging	Het
Iltifb	T	A	10: 118,294,884	I36F	probably damaging	Het
Kcna1	A	T	6: 126,643,112	F82I	probably damaging	Het
Klhl18	G	C	9: 110,436,127	N335K	possibly damaging	Het
Lamtor5	T	G	3: 107,282,007	C120G	probably benign	Het
Lars	A	G	18: 42,251,298	C72R	possibly damaging	Het
Lrrfip1	T	G	1: 91,087,126		probably null	Het
Mapkapk3	T	C	9: 107,256,292	D349G	probably damaging	Het
Mknk2	A	T	10: 80,667,225	I421N	probably benign	Het
Myh6	A	G	14: 54,953,924	I820T	probably benign	Het
Notch2	T	G	3: 98,126,134	V1182G	probably damaging	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr30	C	T	11: 58,455,854	V32M	probably damaging	Het
Olfr366	T	G	2: 37,219,672	F61C	probably damaging	Het
Ppfia4	A	T	1: 134,317,894	S641T	probably damaging	Het
Prok1	T	A	3: 107,239,633	H6L	probably benign	Het
Ptprm	A	T	17: 66,693,473	V1172E	probably damaging	Het
Rasal3	C	T	17: 32,393,601	R762Q	probably benign	Het
Rgs20	G	T	1: 5,070,110	A23E	possibly damaging	Het
Rprd1a	T	C	18: 24,507,231	T163A	probably benign	Het
Rrm1	A	T	7: 102,465,767	N37I	probably damaging	Het
Shc4	T	A	2: 125,639,430	E520V	probably damaging	Het
Slc14a2	G	T	18: 78,208,928	P56Q	probably damaging	Het
Slc22a3	C	T	17: 12,458,490	G264S	probably damaging	Het
Svil	A	G	18: 5,059,294	E770G	probably damaging	Het
Svop	A	G	5: 114,060,125	V129A	probably damaging	Het
Szt2	A	T	4: 118,375,466		probably benign	Het
Tcof1	T	C	18: 60,818,033		probably benign	Het
Tctex1d1	A	G	4: 103,002,503	E84G	possibly damaging	Het
Tmem30a	T	A	9: 79,780,648	I80F	probably damaging	Het
Vmn2r16	G	T	5: 109,363,842	L638F	probably damaging	Het
Xkr7	T	A	2: 153,054,324	I366N	probably damaging	Het
Zer1	A	G	2: 30,100,986		probably benign	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
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
R8061:Atp8b2	UTSW	3	89946220	unclassified	probably benign
Z1088:Atp8b2	UTSW	3	89954568	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACAACGGTGTTGAGGATGATG -3'
(R):5'- TGCCTGCCTGTCATAGAATG -3'

Sequencing Primer
(F):5'- TGTTGAGGATGATGATATAGGACC -3'
(R):5'- TGCCTGCCTGTCATAGAATGAGAAC -3'

Posted On

2016-09-01