Mutagenetix > Incidental Mutation

Incidental Mutation 'R1568:Atp8b2'

175401

Institutional Source

Beutler Lab

Gene Symbol

Atp8b2

Ensembl Gene

ENSMUSG00000060671

Gene Name

ATPase, class I, type 8B, member 2

Synonyms

MMRRC Submission

039607-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.192) question?

Stock #

R1568 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89939481-89963508 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89949848 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 402 (M402V)

Ref Sequence

ENSEMBL: ENSMUSP00000128423 (fasta)

Gene Model

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

AlphaFold

P98199

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069805
AA Change: M421V

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000063384
Gene: ENSMUSG00000060671
AA Change: M421V

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 damaging
Transcript: ENSMUST00000107396
AA Change: M402V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103019
Gene: ENSMUSG00000060671
AA Change: M402V

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

noncoding transcript
Transcript: ENSMUST00000166705

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167257

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167442

Predicted Effect

probably damaging
Transcript: ENSMUST00000168276
AA Change: M402V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128423
Gene: ENSMUSG00000060671
AA Change: M402V

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: 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

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

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.9%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,589,971	K48E	probably damaging	Het
4931408C20Rik	T	C	1: 26,685,869	T77A	probably benign	Het
Adam18	T	G	8: 24,647,783		probably null	Het
Adgb	A	T	10: 10,442,665	Y138*	probably null	Het
Adra1d	T	C	2: 131,546,172	R488G	possibly damaging	Het
Ahnak	G	A	19: 9,002,375	G341E	probably damaging	Het
Ankmy1	T	C	1: 92,881,116	D690G	probably damaging	Het
Arhgef38	C	T	3: 133,132,464	E21K	probably damaging	Het
Atp8b4	G	T	2: 126,325,394	H1062N	probably benign	Het
Bdnf	A	G	2: 109,723,794	H131R	probably damaging	Het
Cblb	C	T	16: 52,135,829	T265M	probably damaging	Het
Cenpe	T	A	3: 135,239,758	M1011K	probably benign	Het
Clca2	A	T	3: 145,075,649	Y711*	probably null	Het
Clca4a	A	G	3: 144,952,929	Y842H	probably benign	Het
Clspn	T	A	4: 126,581,517	M1021K	probably benign	Het
Cpne8	G	T	15: 90,619,642	R107S	probably damaging	Het
D6Ertd527e	C	G	6: 87,111,524	T223S	unknown	Het
Dna2	C	T	10: 62,949,187	R28W	probably benign	Het
Dnah5	T	A	15: 28,409,177	N3580K	probably damaging	Het
Dsp	T	C	13: 38,175,147	I298T	probably damaging	Het
Dync2h1	T	C	9: 7,157,553	K858R	probably null	Het
Fasn	A	T	11: 120,813,249	V1448E	possibly damaging	Het
Ghdc	A	G	11: 100,768,505	I322T	probably benign	Het
Gins2	T	C	8: 120,582,200	D105G	probably damaging	Het
Insr	A	T	8: 3,165,576	D975E	probably benign	Het
Klrc3	T	C	6: 129,639,547	D169G	probably benign	Het
Krt76	T	A	15: 101,885,008	S532C	unknown	Het
Lamp3	A	T	16: 19,673,525	M323K	probably damaging	Het
Lgmn	T	C	12: 102,394,609	I423M	possibly damaging	Het
Lpgat1	A	T	1: 191,776,426	T359S	possibly damaging	Het
Lrguk	T	A	6: 34,086,438	I466N	probably damaging	Het
Magi3	A	C	3: 104,089,527	M234R	probably benign	Het
Myh14	G	A	7: 44,611,698	R1042*	probably null	Het
Nfia	T	G	4: 98,111,224	Y378D	possibly damaging	Het
Npffr1	T	A	10: 61,626,233	S383T	possibly damaging	Het
Olfr1308	C	A	2: 111,960,240	V278F	probably benign	Het
Olfr1410	T	C	1: 92,607,954	L39P	probably damaging	Het
Olfr1466	C	A	19: 13,342,175	P139Q	probably benign	Het
Olfr658	T	A	7: 104,644,770	I199F	probably benign	Het
Osr1	G	A	12: 9,579,798		probably null	Het
Pde4b	A	C	4: 102,597,699	R375S	probably damaging	Het
Pde8a	A	G	7: 81,292,263	E150G	probably damaging	Het
Pkhd1l1	A	T	15: 44,545,501		probably null	Het
Ppp3ca	A	G	3: 136,928,544	T422A	probably benign	Het
Proser1	T	C	3: 53,477,759	V354A	possibly damaging	Het
Rgs20	G	T	1: 5,020,827	R127S	probably benign	Het
Sec22a	T	C	16: 35,347,628	D171G	probably benign	Het
Secisbp2	A	G	13: 51,673,107	E417G	possibly damaging	Het
Serpinb6b	T	C	13: 32,974,912	L32S	probably damaging	Het
Sf3b1	C	G	1: 55,019,395	E12Q	possibly damaging	Het
Slc39a10	A	T	1: 46,826,215	S487T	probably benign	Het
Slc6a1	G	T	6: 114,307,770	G263V	probably damaging	Het
Spag6	A	G	2: 18,733,114	D265G	probably benign	Het
Sybu	G	T	15: 44,718,832	S132*	probably null	Het
Virma	T	C	4: 11,528,776	S1288P	probably damaging	Het
Vmn1r229	T	A	17: 20,814,805	V104D	probably damaging	Het
Vmn1r238	T	C	18: 3,123,358	T19A	probably benign	Het
Vmn2r86	C	T	10: 130,453,141	V164I	probably benign	Het
Wfdc13	G	T	2: 164,686,934	A64S	probably damaging	Het
Zfp873	C	A	10: 82,060,279	H318Q	probably damaging	Het
Zyg11a	A	G	4: 108,183,646		probably null	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
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
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
R8827:Atp8b2	UTSW	3	89946000	missense
R8913:Atp8b2	UTSW	3	89945523	missense
R8996:Atp8b2	UTSW	3	89943389	missense	probably damaging	1.00
R9154:Atp8b2	UTSW	3	89958620	missense	possibly damaging	0.52
R9341:Atp8b2	UTSW	3	89948504	missense	possibly damaging	0.95
R9343:Atp8b2	UTSW	3	89948504	missense	possibly damaging	0.95
R9439:Atp8b2	UTSW	3	89944185	missense
R9466:Atp8b2	UTSW	3	89944177	missense	probably benign	0.33
R9590:Atp8b2	UTSW	3	89958386	nonsense	probably null
R9651:Atp8b2	UTSW	3	89958296	missense	probably damaging	1.00
R9739:Atp8b2	UTSW	3	89946096	missense	probably benign
R9778:Atp8b2	UTSW	3	89954558	missense	possibly damaging	0.95
Z1088:Atp8b2	UTSW	3	89954568	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACGATTCCCCACTCAGGATGCAG -3'
(R):5'- TGTCAGTGGTACACAAGCAGCTC -3'

Sequencing Primer
(F):5'- ATGCAGAGCAGACCCTTG -3'
(R):5'- TCCCCTATGCAGTGTGGAAG -3'

Posted On

2014-04-24