Mutagenetix > Incidental Mutation

Incidental Mutation 'R8827:Atp8b2'

673518

Institutional Source

Beutler Lab

Gene Symbol

Atp8b2

Ensembl Gene

ENSMUSG00000060671

Gene Name

ATPase, class I, type 8B, member 2

Synonyms

MMRRC Submission

068658-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R8827 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89846795-89870645 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89853307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 70 (N70S)

Gene Model

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

AlphaFold

P98199

Predicted Effect

probably benign
Transcript: ENSMUST00000069805
AA Change: N755S

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

SMART Domains

Protein: ENSMUSP00000063384
Gene: ENSMUSG00000060671
AA Change: N755S

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: N760S

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

SMART Domains

Protein: ENSMUSP00000103019
Gene: ENSMUSG00000060671
AA Change: N760S

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

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

probably benign
Transcript: ENSMUST00000168276
AA Change: N736S

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

SMART Domains

Protein: ENSMUSP00000128423
Gene: ENSMUSG00000060671
AA Change: N736S

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: ENSMUST00000170739

SMART Domains

Protein: ENSMUSP00000127720
Gene: ENSMUSG00000060671

Domain	Start	End	E-Value	Type
Pfam:Hydrolase_like2	1	82	1.4e-7	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000130545
Gene: ENSMUSG00000060671
AA Change: N70S

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 89,839,324 (GRCm39)	I810V	probably benign	Het
Adcy7	T	C	8: 89,036,327 (GRCm39)	F128S	possibly damaging	Het
Ankhd1	C	T	18: 36,757,633 (GRCm39)	Q188*	probably null	Het
Asxl2	A	T	12: 3,550,501 (GRCm39)	I748L	probably benign	Het
Bmp1	A	G	14: 70,728,082 (GRCm39)	Y616H	probably damaging	Het
Brap	T	A	5: 121,810,261 (GRCm39)	D248E	probably benign	Het
Ccdc13	G	A	9: 121,645,765 (GRCm39)	S294L	probably benign	Het
Cdkl1	T	C	12: 69,794,123 (GRCm39)	Y338C	probably benign	Het
Cfap54	A	T	10: 92,774,110 (GRCm39)	S1993T	unknown	Het
Chl1	G	T	6: 103,670,111 (GRCm39)	M500I	probably benign	Het
Cntn3	G	C	6: 102,246,094 (GRCm39)	L352V	probably benign	Het
Cog6	T	C	3: 52,890,535 (GRCm39)	D635G	probably benign	Het
Col22a1	C	A	15: 71,774,665 (GRCm39)		probably null	Het
Cyp3a16	A	T	5: 145,387,008 (GRCm39)	D327E	probably benign	Het
D6Ertd527e	A	T	6: 87,088,226 (GRCm39)	S130C	unknown	Het
Dhodh	T	C	8: 110,334,928 (GRCm39)		probably benign	Het
Dync2li1	C	T	17: 84,955,079 (GRCm39)	S246L	possibly damaging	Het
Eif3c	A	T	7: 126,157,894 (GRCm39)	F316Y	probably damaging	Het
Esp34	A	T	17: 38,865,091 (GRCm39)		probably benign	Het
Fam98a	T	C	17: 75,851,824 (GRCm39)	M86V	possibly damaging	Het
Gm29394	G	T	15: 57,932,717 (GRCm39)	Q7K	probably damaging	Het
Gtf2i	C	T	5: 134,269,096 (GRCm39)		probably null	Het
H2bc27	C	T	11: 58,839,917 (GRCm39)	P51L	probably benign	Het
Hecw1	A	G	13: 14,438,720 (GRCm39)	Y888H	probably damaging	Het
Kcnma1	A	T	14: 23,417,548 (GRCm39)	W894R	probably damaging	Het
Klhl25	C	A	7: 75,516,391 (GRCm39)	D432E	possibly damaging	Het
Klhl7	G	A	5: 24,363,635 (GRCm39)		probably null	Het
Lamc1	A	T	1: 153,097,424 (GRCm39)	L1540Q	probably damaging	Het
Map3k5	T	A	10: 19,902,003 (GRCm39)	V358E	probably damaging	Het
Map4k5	C	T	12: 69,903,635 (GRCm39)	D57N	possibly damaging	Het
Mpped2	T	C	2: 106,691,928 (GRCm39)	M211T	possibly damaging	Het
Nat9	T	C	11: 115,075,339 (GRCm39)	T101A	probably benign	Het
Nprl3	A	T	11: 32,184,742 (GRCm39)	F447L	probably benign	Het
Nup50l	G	T	6: 96,142,293 (GRCm39)	N250K	probably benign	Het
Or4p22	T	C	2: 88,317,165 (GRCm39)	S30P	probably damaging	Het
Or5h24	G	A	16: 58,919,061 (GRCm39)	T98I	unknown	Het
Or5w16	C	T	2: 87,576,777 (GRCm39)	P79L	possibly damaging	Het
Orc3	A	T	4: 34,605,569 (GRCm39)	F104Y	probably benign	Het
Pcdha6	T	A	18: 37,102,802 (GRCm39)	V665E	probably damaging	Het
Pdpk1	T	C	17: 24,307,191 (GRCm39)	D380G	probably benign	Het
Phkg1	T	A	5: 129,893,894 (GRCm39)	E280D	probably benign	Het
Pkdrej	T	A	15: 85,699,732 (GRCm39)	Y2068F	possibly damaging	Het
Plekhg5	A	G	4: 152,191,462 (GRCm39)		probably benign	Het
Plekhh3	G	A	11: 101,058,380 (GRCm39)	P222L	probably damaging	Het
Prdm1	A	T	10: 44,334,476 (GRCm39)	V10E	probably benign	Het
Prdm6	G	T	18: 53,701,267 (GRCm39)	Q513H	probably damaging	Het
Pros1	T	C	16: 62,746,827 (GRCm39)	V593A	probably benign	Het
Radil	T	C	5: 142,493,859 (GRCm39)	H250R	probably damaging	Het
Rasa2	C	T	9: 96,434,403 (GRCm39)	R628Q	probably damaging	Het
Ryr2	T	C	13: 11,572,934 (GRCm39)	E4884G	possibly damaging	Het
Shh	A	G	5: 28,663,125 (GRCm39)	S348P	probably damaging	Het
Slc1a4	A	T	11: 20,270,237 (GRCm39)		probably benign	Het
Slc32a1	A	C	2: 158,453,274 (GRCm39)	D38A	probably damaging	Het
Slc35f3	TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,780 (GRCm39)		probably benign	Het
Slc45a4	A	T	15: 73,458,316 (GRCm39)	I411N	probably benign	Het
Slc49a4	A	T	16: 35,554,320 (GRCm39)	C274S	probably benign	Het
Slc7a10	C	A	7: 34,897,313 (GRCm39)	S248Y	probably damaging	Het
Smc3	T	A	19: 53,611,085 (GRCm39)	D258E	probably benign	Het
Spata31h1	T	A	10: 82,129,617 (GRCm39)	Q1131L	probably benign	Het
Sphk1	A	G	11: 116,426,590 (GRCm39)	D182G	probably damaging	Het
Srgap3	A	G	6: 112,716,302 (GRCm39)	Y633H	probably damaging	Het
Sspo	T	G	6: 48,434,606 (GRCm39)	F1033V	possibly damaging	Het
Syne2	T	C	12: 76,095,357 (GRCm39)	V488A	probably benign	Het
Tead1	A	C	7: 112,475,449 (GRCm39)	K299N	probably damaging	Het
Tmem150c	A	C	5: 100,240,654 (GRCm39)	S69R	probably damaging	Het
Tnfaip3	T	A	10: 18,880,795 (GRCm39)	K424M	probably damaging	Het
Trib3	A	G	2: 152,180,188 (GRCm39)	V335A	possibly damaging	Het
Ttc39c	G	A	18: 12,828,436 (GRCm39)	V199I	probably benign	Het
Vangl1	A	T	3: 102,070,736 (GRCm39)	F400Y	probably damaging	Het
Vmn2r106	A	T	17: 20,487,868 (GRCm39)	S844T	probably benign	Het
Wwtr1	A	G	3: 57,482,616 (GRCm39)	V77A	probably damaging	Het
Yju2b	T	A	8: 84,986,987 (GRCm39)	Q170L	possibly damaging	Het
Zc3h4	C	A	7: 16,163,123 (GRCm39)	P500T	unknown	Het
Zfand2a	C	T	5: 139,460,607 (GRCm39)		probably null	Het
Zfr2	A	G	10: 81,078,619 (GRCm39)	T284A	probably benign	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
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
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'- CCTTTCTGCCAAGAGGGAAC -3'
(R):5'- AGGTGTTTGTAGTCACAGGCC -3'

Sequencing Primer
(F):5'- ACCGAGGAGCTATGGGC -3'
(R):5'- GTTTGTAGTCACAGGCCACACTG -3'

Posted On

2021-07-15