Mutagenetix > Incidental Mutations

Incidental Mutation 'R4536:Atp8b2'

333318

Institutional Source

Beutler Lab

Gene Symbol

Atp8b2

Ensembl Gene

ENSMUSG00000060671

Gene Name

ATPase, class I, type 8B, member 2

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

R4536 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89939481-89963508 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 89941784 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 1081 (A1081V)

Ref Sequence

ENSEMBL: ENSMUSP00000063384 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000069805
AA Change: A1081V

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000063384
Gene: ENSMUSG00000060671
AA Change: A1081V

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: A1086V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000103019
Gene: ENSMUSG00000060671
AA Change: A1086V

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

noncoding transcript
Transcript: ENSMUST00000167442

Predicted Effect

probably benign
Transcript: ENSMUST00000168276
AA Change: A1062V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000128423
Gene: ENSMUSG00000060671
AA Change: A1062V

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: 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

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

0.1148

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amot	A	G	X: 145,480,142	S398P	probably benign	Het
Arhgef17	G	C	7: 100,929,854	S629C	probably damaging	Het
Atpif1	A	C	4: 132,533,559	S4A	possibly damaging	Het
Atr	A	G	9: 95,874,418	D867G	probably benign	Het
C1qtnf3	G	A	15: 10,972,027	S206N	probably damaging	Het
Cep152	A	C	2: 125,602,947		probably null	Het
Cetn1	T	C	18: 9,618,998	E141G	probably damaging	Het
Erbb4	A	T	1: 68,346,622	N269K	probably damaging	Het
Exoc4	C	T	6: 33,277,244	R112C	probably damaging	Het
Frmd4b	T	A	6: 97,310,732	Q241L	possibly damaging	Het
Fyco1	A	G	9: 123,838,888	V91A	probably damaging	Het
Gls2	G	A	10: 128,200,937	V196I	probably benign	Het
Gm15448	T	A	7: 3,822,252	M464L	probably benign	Het
Gm5426	G	A	10: 96,136,702	A34T	probably benign	Het
Hormad1	T	C	3: 95,585,141	V343A	probably benign	Het
Incenp	T	C	19: 9,883,939	N450S	unknown	Het
Klhl1	A	C	14: 96,136,583		probably null	Het
Mettl4	C	A	17: 94,735,505	S301I	possibly damaging	Het
Mlxip	G	A	5: 123,450,503	D819N	probably damaging	Het
Olfr975	A	T	9: 39,950,435	L112Q	probably damaging	Het
Pam	T	A	1: 97,844,699	K440*	probably null	Het
Phldb2	T	C	16: 45,770,681	M996V	probably benign	Het
Rad51ap2	A	G	12: 11,457,849	S591G	possibly damaging	Het
Rfx6	A	G	10: 51,723,784	N542S	probably benign	Het
Slc44a4	T	A	17: 34,923,839	C254S	probably damaging	Het
Sptbn2	C	T	19: 4,732,602	A522V	probably damaging	Het
St5	A	T	7: 109,531,156	S879R	probably damaging	Het
Syt10	C	T	15: 89,782,622	D509N	probably damaging	Het
Tango2	A	G	16: 18,324,355		probably null	Het
Tfpi2	T	C	6: 3,968,044	N32S	possibly damaging	Het
Trafd1	T	C	5: 121,379,683		probably null	Het
Ttll2	A	T	17: 7,351,721	I269N	probably benign	Het
Tysnd1	G	A	10: 61,696,053	W161*	probably null	Het
Uggt2	A	T	14: 119,019,558	M1088K	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
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
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
R8491:Atp8b2	UTSW	3	89958369	missense	probably damaging	1.00
Z1088:Atp8b2	UTSW	3	89954568	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGTCACATTGCAGCTGCC -3'
(R):5'- TGGAGATTCCTTGACTGAGATG -3'

Sequencing Primer
(F):5'- TTCAGGCTAAGCCTGAGG -3'
(R):5'- CCTTGACTGAGATGGTTAAAGAAAC -3'

Posted On

2015-08-18