Mutagenetix > Incidental Mutation

Incidental Mutation 'R1907:Atp8b2'

214436

Institutional Source

Beutler Lab

Gene Symbol

Atp8b2

Ensembl Gene

ENSMUSG00000060671

Gene Name

ATPase, class I, type 8B, member 2

Synonyms

MMRRC Submission

039926-MU

Accession Numbers

Essential gene?

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

Stock #

R1907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89846795-89870645 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 89853583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 682 (V682M)

Ref Sequence

ENSEMBL: ENSMUSP00000128423 (fasta)

Gene Model

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

AlphaFold

P98199

Predicted Effect

probably benign
Transcript: ENSMUST00000069805
AA Change: V701M

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000063384
Gene: ENSMUSG00000060671
AA Change: V701M

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: V682M

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000103019
Gene: ENSMUSG00000060671
AA Change: V682M

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

probably benign
Transcript: ENSMUST00000168276
AA Change: V682M

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000128423
Gene: ENSMUSG00000060671
AA Change: V682M

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

unknown
Transcript: ENSMUST00000171941
AA Change: V16M

SMART Domains

Protein: ENSMUSP00000130545
Gene: ENSMUSG00000060671
AA Change: V16M

Domain	Start	End	E-Value	Type
Pfam:HAD	2	158	3.3e-8	PFAM
Pfam:Hydrolase_3	124	167	1.7e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171818

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167442

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

Meta Mutation Damage Score

0.1416

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.4%

Validation Efficiency

98% (104/106)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	C	A	3: 121,862,661 (GRCm39)	S206R	probably damaging	Het
Abcc6	G	T	7: 45,663,593 (GRCm39)	A357E	probably benign	Het
Abhd13	T	A	8: 10,038,170 (GRCm39)	C256S	probably benign	Het
Actrt3	A	G	3: 30,652,716 (GRCm39)	V126A	probably damaging	Het
Adgrv1	A	G	13: 81,740,670 (GRCm39)		probably benign	Het
Alyref2	A	G	1: 171,331,838 (GRCm39)	D205G	probably damaging	Het
Amigo3	G	A	9: 107,930,835 (GRCm39)	R86Q	probably benign	Het
Ankrd50	G	C	3: 38,508,201 (GRCm39)	P1389A	probably damaging	Het
Aoah	A	G	13: 21,094,264 (GRCm39)	D183G	probably damaging	Het
Arap3	A	T	18: 38,129,724 (GRCm39)	S146T	probably benign	Het
Atp2c2	T	C	8: 120,476,615 (GRCm39)		probably benign	Het
Cacna1i	T	C	15: 80,259,465 (GRCm39)	I1245T	probably damaging	Het
Card14	A	G	11: 119,222,085 (GRCm39)	N460S	probably benign	Het
Ceacam5	A	G	7: 17,486,309 (GRCm39)	D602G	possibly damaging	Het
Cecr2	T	A	6: 120,738,121 (GRCm39)	H921Q	probably benign	Het
Cyb5d1	T	C	11: 69,285,566 (GRCm39)	D115G	probably benign	Het
Dbp	C	T	7: 45,357,744 (GRCm39)	T67I	possibly damaging	Het
Dennd5b	C	T	6: 148,943,074 (GRCm39)	V601I	probably benign	Het
Dnah11	G	A	12: 118,091,291 (GRCm39)	A947V	possibly damaging	Het
Dpysl3	T	A	18: 43,571,193 (GRCm39)	D27V	probably damaging	Het
Drd1	A	T	13: 54,207,271 (GRCm39)	D307E	possibly damaging	Het
Dscaml1	G	A	9: 45,651,778 (GRCm39)	G277D	probably damaging	Het
Eif4g3	C	T	4: 137,885,726 (GRCm39)	R842W	probably damaging	Het
Enam	C	T	5: 88,652,481 (GRCm39)	T1330I	possibly damaging	Het
Fabp6	T	C	11: 43,486,994 (GRCm39)		probably null	Het
Fcsk	A	T	8: 111,620,010 (GRCm39)	L289*	probably null	Het
Fhip1a	T	C	3: 85,579,940 (GRCm39)	D755G	probably benign	Het
Fsip2	C	T	2: 82,813,772 (GRCm39)	P3364S	possibly damaging	Het
Gad1	C	T	2: 70,409,482 (GRCm39)	S191F	possibly damaging	Het
Gcm1	A	C	9: 77,972,055 (GRCm39)	N332T	probably benign	Het
Gin1	G	A	1: 97,703,172 (GRCm39)		probably benign	Het
Gpr25	T	C	1: 136,188,538 (GRCm39)	D25G	probably benign	Het
Gstm4	T	C	3: 107,948,593 (GRCm39)	T172A	probably benign	Het
Hnrnpll	A	G	17: 80,342,758 (GRCm39)		probably null	Het
Il12rb2	T	A	6: 67,272,270 (GRCm39)	K339*	probably null	Het
Inpp1	A	G	1: 52,828,829 (GRCm39)	*397Q	probably null	Het
Kcp	G	T	6: 29,497,834 (GRCm39)		probably benign	Het
Kdm1b	G	A	13: 47,217,596 (GRCm39)	V352I	probably benign	Het
Klhdc2	G	T	12: 69,343,734 (GRCm39)		probably benign	Het
Krt75	T	A	15: 101,481,801 (GRCm39)	T156S	possibly damaging	Het
Lag3	T	A	6: 124,886,450 (GRCm39)	I168F	possibly damaging	Het
Lama4	T	G	10: 38,948,754 (GRCm39)	V839G	probably benign	Het
Lmtk2	G	T	5: 144,111,928 (GRCm39)	V883L	probably benign	Het
Lrrc37a	C	A	11: 103,347,982 (GRCm39)	K2904N	unknown	Het
Macf1	A	T	4: 123,266,192 (GRCm39)	I4775N	probably damaging	Het
Map2k3	T	G	11: 60,823,055 (GRCm39)	S3A	possibly damaging	Het
Mast1	G	A	8: 85,642,895 (GRCm39)	R967C	probably damaging	Het
Mettl2	T	G	11: 105,017,666 (GRCm39)	S59A	probably benign	Het
Mtr	G	A	13: 12,240,418 (GRCm39)	T530I	probably damaging	Het
Myo7b	A	T	18: 32,110,052 (GRCm39)	C1137S	possibly damaging	Het
Nacad	T	A	11: 6,552,540 (GRCm39)	H217L	probably benign	Het
Ncstn	A	T	1: 171,899,710 (GRCm39)	V324E	probably damaging	Het
Ndufaf7	C	A	17: 79,249,546 (GRCm39)	H148N	possibly damaging	Het
Or10a49	T	A	7: 108,467,705 (GRCm39)	I219F	possibly damaging	Het
Or52a24	T	A	7: 103,381,190 (GRCm39)	I19N	probably damaging	Het
Or52n2b	G	A	7: 104,566,272 (GRCm39)	T77I	probably damaging	Het
Or7g12	T	C	9: 18,899,737 (GRCm39)	I151T	possibly damaging	Het
Or8b12	T	G	9: 37,657,729 (GRCm39)	L100V	probably benign	Het
Or8k17	T	C	2: 86,066,454 (GRCm39)	K242E	possibly damaging	Het
Pcdh20	T	C	14: 88,706,140 (GRCm39)	I387V	probably benign	Het
Pclo	A	G	5: 14,728,525 (GRCm39)		probably benign	Het
Pcp2	G	A	8: 3,674,904 (GRCm39)		probably benign	Het
Pde1a	T	A	2: 79,698,651 (GRCm39)	D393V	probably damaging	Het
Pias4	T	C	10: 80,990,197 (GRCm39)	D421G	possibly damaging	Het
Pign	T	C	1: 105,565,940 (GRCm39)	T362A	possibly damaging	Het
Pik3c2g	A	C	6: 139,789,768 (GRCm39)	K304Q	probably damaging	Het
Pkd2	T	A	5: 104,634,672 (GRCm39)	W568R	probably damaging	Het
Pld2	T	A	11: 70,435,010 (GRCm39)	I306N	probably damaging	Het
Plppr3	T	C	10: 79,709,903 (GRCm39)	K9R	probably damaging	Het
Pramel11	T	A	4: 143,622,061 (GRCm39)	R431S	possibly damaging	Het
Psme4	T	C	11: 30,760,922 (GRCm39)	V397A	probably damaging	Het
Ptbp2	A	T	3: 119,555,398 (GRCm39)	S23R	probably damaging	Het
Ptpn13	A	G	5: 103,728,575 (GRCm39)	D2074G	probably null	Het
Rab34	T	A	11: 78,082,081 (GRCm39)	L166H	probably damaging	Het
Rabgap1l	T	A	1: 160,472,880 (GRCm39)	R519S	probably benign	Het
Rasa1	A	T	13: 85,374,691 (GRCm39)	L218*	probably null	Het
Reln	A	G	5: 22,249,960 (GRCm39)		probably null	Het
Rer1	T	C	4: 155,162,956 (GRCm39)	D94G	possibly damaging	Het
Rhpn1	T	C	15: 75,583,673 (GRCm39)	V386A	probably benign	Het
Samd3	T	A	10: 26,147,754 (GRCm39)	C476*	probably null	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sipa1l3	A	G	7: 29,038,592 (GRCm39)	S352P	possibly damaging	Het
Slc27a2	A	G	2: 126,428,262 (GRCm39)	Y549C	probably benign	Het
Slc7a9	A	G	7: 35,149,279 (GRCm39)	T7A	probably benign	Het
Slco4c1	C	T	1: 96,770,224 (GRCm39)	G280D	probably damaging	Het
Snx19	T	A	9: 30,344,872 (GRCm39)	V657E	probably damaging	Het
Spata31d1c	A	G	13: 65,183,690 (GRCm39)	M411V	probably benign	Het
Spice1	T	A	16: 44,178,193 (GRCm39)	L72*	probably null	Het
Stard9	G	T	2: 120,544,293 (GRCm39)	V4471L	probably damaging	Het
Syt14	A	G	1: 192,584,143 (GRCm39)	L707P	probably damaging	Het
Tab1	T	C	15: 80,037,869 (GRCm39)	I234T	probably damaging	Het
Tas2r107	T	C	6: 131,636,951 (GRCm39)	M33V	probably benign	Het
Tbx4	T	A	11: 85,805,349 (GRCm39)	S479R	possibly damaging	Het
Tssk5	C	T	15: 76,257,093 (GRCm39)	R263Q	probably benign	Het
Ttn	T	C	2: 76,701,200 (GRCm39)		probably benign	Het
Ugt2b5	T	A	5: 87,287,489 (GRCm39)	Q226L	probably benign	Het
Ush2a	C	T	1: 188,447,261 (GRCm39)	S2483L	probably benign	Het
Wdr95	A	G	5: 149,475,891 (GRCm39)	Y63C	probably damaging	Het
Xirp2	A	G	2: 67,346,700 (GRCm39)	I2980M	probably damaging	Het
Yeats4	G	A	10: 117,051,636 (GRCm39)	T207I	probably benign	Het
Ythdc1	A	G	5: 86,978,489 (GRCm39)	R561G	probably damaging	Het
Zbtb14	G	A	17: 69,694,385 (GRCm39)	E28K	possibly damaging	Het
Zfp931	A	T	2: 177,711,684 (GRCm39)	L21Q	probably damaging	Het
Zyg11b	A	C	4: 108,112,423 (GRCm39)	M415R	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
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
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'- ACAGCGTGGGAGGAATCTAC -3'
(R):5'- TGGCCAACATCAAGATTTGGG -3'

Sequencing Primer
(F):5'- GAGGAATCTACCATCTTCTTCCGGG -3'
(R):5'- CCAACATCAAGATTTGGGTGCTAAC -3'

Posted On

2014-07-14