Mutagenetix > Incidental Mutations

Incidental Mutation 'R1868:Atp2b1'

208970

Institutional Source

Beutler Lab

Gene Symbol

Atp2b1

Ensembl Gene

ENSMUSG00000019943

Gene Name

ATPase, Ca++ transporting, plasma membrane 1

Synonyms

PMCA1, 2810442I22Rik, E130111D10Rik

MMRRC Submission

039890-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1868 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98914406-99026143 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98996888 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 417 (V417A)

Ref Sequence

ENSEMBL: ENSMUSP00000151598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020107] [ENSMUST00000219624]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020107
AA Change: V417A

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020107
Gene: ENSMUSG00000019943
AA Change: V417A

Domain	Start	End	E-Value	Type
Cation_ATPase_N	50	126	1.8e-3	SMART
low complexity region	138	156	N/A	INTRINSIC
Pfam:E1-E2_ATPase	157	312	1.5e-28	PFAM
Pfam:E1-E2_ATPase	348	464	1.4e-13	PFAM
Pfam:HAD	472	806	6.9e-22	PFAM
Pfam:Cation_ATPase	492	614	8.8e-17	PFAM
Pfam:Hydrolase	605	809	5.8e-14	PFAM
Pfam:Hydrolase_3	764	842	7.2e-7	PFAM
transmembrane domain	855	877	N/A	INTRINSIC
Pfam:Cation_ATPase_C	879	1061	1.2e-47	PFAM
low complexity region	1079	1092	N/A	INTRINSIC
Pfam:ATP_Ca_trans_C	1103	1155	7.5e-31	PFAM
low complexity region	1176	1188	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000219090

Predicted Effect

probably damaging
Transcript: ENSMUST00000219624
AA Change: V417A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220358

Meta Mutation Damage Score

0.2288

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

97% (115/118)

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 primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	A	T	5: 66,000,217	M1K	probably null	Het
9330182L06Rik	T	A	5: 9,479,251	I1028K	probably damaging	Het
9930021J03Rik	A	T	19: 29,743,598	S743T	probably damaging	Het
A630073D07Rik	C	T	6: 132,626,494	E100K	unknown	Het
Abcc3	T	G	11: 94,364,063	D638A	probably benign	Het
Acadm	T	C	3: 153,930,252	I272V	probably benign	Het
Adam2	G	A	14: 66,077,658	T22I	probably damaging	Het
Aldh3b1	G	A	19: 3,921,271		probably benign	Het
Arfgef3	A	T	10: 18,661,387	I182K	probably benign	Het
Arhgef17	A	G	7: 100,878,977	S677P	probably benign	Het
Brca1	T	A	11: 101,498,013	H1675L	probably benign	Het
Btd	G	T	14: 31,667,309	G329V	probably benign	Het
Capsl	T	A	15: 9,461,830	L104*	probably null	Het
Cbx1	T	C	11: 96,802,728	S107P	probably benign	Het
Cd207	G	T	6: 83,671,701	Y326*	probably null	Het
Cenpp	T	C	13: 49,641,283	D136G	probably damaging	Het
Chsy3	A	G	18: 59,176,488		probably null	Het
Cntrl	T	A	2: 35,129,815	H551Q	probably benign	Het
Col14a1	T	A	15: 55,447,462		probably benign	Het
Cybrd1	T	A	2: 71,137,634	F183Y	possibly damaging	Het
D5Ertd577e	T	A	5: 95,482,899	Y212N	probably benign	Het
D5Ertd579e	G	A	5: 36,616,427	S208L	probably damaging	Het
Dlg2	A	T	7: 92,386,952	K719*	probably null	Het
Dppa1	A	T	11: 46,625,566		probably null	Het
Dse	A	G	10: 34,153,288	V602A	possibly damaging	Het
Elmo1	C	T	13: 20,589,653	A611V	possibly damaging	Het
Ets2	T	C	16: 95,715,074	S233P	probably benign	Het
Fam129a	A	G	1: 151,641,551	S104G	possibly damaging	Het
Fam160b1	T	C	19: 57,386,305	I704T	possibly damaging	Het
Fam198a	A	G	9: 121,965,427	T216A	possibly damaging	Het
Fchsd2	G	A	7: 101,250,438		probably benign	Het
Fkbp4	T	C	6: 128,432,490	R402G	probably benign	Het
G2e3	T	A	12: 51,353,629	D21E	probably benign	Het
Gck	A	T	11: 5,902,165	N391K	probably damaging	Het
Gm11077	T	A	6: 140,729,291	I3N	unknown	Het
Gm13762	T	C	2: 88,973,784	T36A	possibly damaging	Het
Gm6793	T	C	8: 112,014,456	M185V	probably benign	Het
Gucy2d	T	A	7: 98,454,061	L504H	probably damaging	Het
Hat1	T	A	2: 71,421,283	Y225*	probably null	Het
Iars2	A	T	1: 185,318,568	D441E	probably benign	Het
Ido2	C	A	8: 24,553,760	M92I	possibly damaging	Het
Ifne	T	C	4: 88,879,671	E170G	probably damaging	Het
Ints8	C	A	4: 11,241,684	C253F	probably damaging	Het
Intu	G	T	3: 40,664,335	G257V	probably damaging	Het
Jakmip3	A	G	7: 139,007,587	K140R	probably benign	Het
Kcnip3	T	C	2: 127,459,343	E237G	probably damaging	Het
Ksr2	A	C	5: 117,505,529	E121A	probably benign	Het
Lars	T	A	18: 42,214,837	I974F	probably benign	Het
Lce1b	A	G	3: 92,656,011	S72P	unknown	Het
Lhfpl4	T	A	6: 113,176,433	D125V	probably benign	Het
Luc7l	G	A	17: 26,280,056		probably benign	Het
Mei1	T	C	15: 82,124,953	L833P	probably damaging	Het
Mier2	A	G	10: 79,548,830	V150A	probably damaging	Het
Muc4	C	T	16: 32,756,341	R2072C	unknown	Het
Myh3	A	G	11: 67,085,026	K295E	probably benign	Het
Ndufaf5	A	G	2: 140,181,589	I115V	probably benign	Het
Neb	T	C	2: 52,326,744	K140E	probably damaging	Het
Npas2	A	G	1: 39,300,678	D103G	probably benign	Het
Ntrk3	A	T	7: 78,192,604	H825Q	possibly damaging	Het
Nup62	T	A	7: 44,829,048	S162R	possibly damaging	Het
Olfr1000	T	A	2: 85,608,065	I282F	probably damaging	Het
Olfr1086	G	A	2: 86,677,285	T16I	possibly damaging	Het
Olfr143	A	G	9: 38,253,690	E91G	probably damaging	Het
Orc4	A	G	2: 48,910,293	M281T	probably benign	Het
Osbpl5	C	A	7: 143,715,773	R22L	probably damaging	Het
Otos	A	G	1: 92,644,463	F47S	probably damaging	Het
Parp11	A	G	6: 127,470,777	T25A	probably damaging	Het
Pcdhb9	A	C	18: 37,402,084	D377A	probably damaging	Het
Pdgfra	C	T	5: 75,170,873	S348L	probably benign	Het
Pdlim5	C	A	3: 142,306,299		probably null	Het
Peg12	T	C	7: 62,463,668	H227R	probably benign	Het
Piezo2	T	C	18: 63,019,344	E2559G	probably damaging	Het
Pnisr	C	T	4: 21,874,086		probably benign	Het
Ppa2	A	T	3: 133,348,097	I183F	probably damaging	Het
Prl2a1	T	C	13: 27,804,940	L16P	probably damaging	Het
Rai14	C	A	15: 10,633,228	Q25H	probably damaging	Het
Rapgef6	TG	TGG	11: 54,546,397		probably null	Het
Rbm34	C	A	8: 126,970,881	A27S	probably benign	Het
Rchy1	T	C	5: 91,951,903	D192G	probably damaging	Het
Rexo1	T	C	10: 80,542,920	D1094G	probably damaging	Het
Rtl1	T	A	12: 109,590,536	D1623V	probably damaging	Het
Ryr2	C	T	13: 11,731,700	E1989K	probably benign	Het
Sema6c	A	G	3: 95,170,813	E500G	probably damaging	Het
Slc13a1	T	A	6: 24,118,000	Y246F	probably damaging	Het
Slc39a9	C	T	12: 80,679,523	L249F	probably damaging	Het
Slc6a21	C	T	7: 45,287,828	P261S	probably benign	Het
Slco2b1	C	T	7: 99,686,036	C179Y	probably damaging	Het
Sox6	T	C	7: 115,659,538	N252S	possibly damaging	Het
Spr-ps1	C	T	6: 85,155,903		noncoding transcript	Het
Sptbn1	C	A	11: 30,114,781	R1906L	possibly damaging	Het
Stac2	T	C	11: 98,052,945	D13G	probably benign	Het
Stat5a	G	T	11: 100,874,129	R226L	probably damaging	Het
Suz12	A	G	11: 80,013,599		probably null	Het
Tas2r144	C	A	6: 42,216,002	H225Q	probably benign	Het
Tdo2	T	A	3: 81,960,546	M331L	probably benign	Het
Tesk1	T	C	4: 43,447,201	W530R	probably damaging	Het
Tlr6	T	C	5: 64,954,829	N245S	probably benign	Het
Tnfrsf11a	G	T	1: 105,844,705	A573S	probably damaging	Het
Tpbpb	A	T	13: 60,902,530		probably benign	Het
Trim24	T	A	6: 37,951,512	S590T	probably damaging	Het
Ttll3	G	T	6: 113,392,764	A90S	possibly damaging	Het
Ubr5	A	T	15: 38,041,846	S169T	probably benign	Het
Usp28	T	C	9: 49,016,707	V363A	probably damaging	Het
Vcan	A	G	13: 89,690,871	S2185P	probably benign	Het
Vmn1r211	T	C	13: 22,851,609	H296R	probably benign	Het
Vmn2r3	G	A	3: 64,259,116	P865S	probably damaging	Het
Wapl	A	G	14: 34,692,458	T426A	probably benign	Het
Wdr37	G	T	13: 8,836,851	T300K	probably damaging	Het
Wrap53	A	T	11: 69,562,164	V439E	probably null	Het
Wrn	A	G	8: 33,257,221	S868P	probably benign	Het
Zfhx4	A	G	3: 5,412,714	E3463G	probably damaging	Het
Zfp189	T	A	4: 49,529,283	C129S	possibly damaging	Het
Zfp442	T	C	2: 150,408,180	K544E	probably damaging	Het
Zfp939	T	A	7: 39,473,304		noncoding transcript	Het
Zfyve26	T	C	12: 79,261,799	H228R	possibly damaging	Het

Other mutations in Atp2b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00897:Atp2b1	APN	10	99015020	missense	possibly damaging	0.84
IGL00972:Atp2b1	APN	10	99015044	missense	probably damaging	1.00
IGL00977:Atp2b1	APN	10	98986975	missense	possibly damaging	0.88
IGL01154:Atp2b1	APN	10	98996888	missense	probably damaging	1.00
IGL03073:Atp2b1	APN	10	98999851	missense	probably damaging	1.00
IGL03081:Atp2b1	APN	10	98994813	splice site	probably benign
PIT4453001:Atp2b1	UTSW	10	99016978	missense	probably benign	0.00
R0157:Atp2b1	UTSW	10	98999947	missense	probably damaging	0.99
R0200:Atp2b1	UTSW	10	98979814	nonsense	probably null
R0899:Atp2b1	UTSW	10	99017031	critical splice donor site	probably null
R0981:Atp2b1	UTSW	10	99015629	missense	probably damaging	1.00
R1163:Atp2b1	UTSW	10	98979851	missense	possibly damaging	0.91
R1569:Atp2b1	UTSW	10	98987326	missense	probably benign	0.02
R1572:Atp2b1	UTSW	10	98994675	missense	probably benign	0.10
R1574:Atp2b1	UTSW	10	98996948	missense	probably damaging	1.00
R1574:Atp2b1	UTSW	10	98996948	missense	probably damaging	1.00
R1721:Atp2b1	UTSW	10	98996888	missense	probably damaging	1.00
R1782:Atp2b1	UTSW	10	99003201	missense	probably benign	0.01
R1840:Atp2b1	UTSW	10	99022929	missense	probably benign	0.00
R1867:Atp2b1	UTSW	10	98996888	missense	probably damaging	1.00
R1944:Atp2b1	UTSW	10	99022931	missense	probably damaging	0.97
R1984:Atp2b1	UTSW	10	99014492	missense	possibly damaging	0.95
R2055:Atp2b1	UTSW	10	99014559	missense	probably damaging	1.00
R2325:Atp2b1	UTSW	10	99018895	nonsense	probably null
R2399:Atp2b1	UTSW	10	98999923	missense	probably benign	0.02
R2876:Atp2b1	UTSW	10	98999745	missense	probably damaging	0.96
R3762:Atp2b1	UTSW	10	99009489	missense	probably damaging	1.00
R3776:Atp2b1	UTSW	10	98979869	frame shift	probably null
R3808:Atp2b1	UTSW	10	99003148	missense	possibly damaging	0.74
R3978:Atp2b1	UTSW	10	98996933	unclassified	probably null
R4391:Atp2b1	UTSW	10	99003214	missense	probably benign	0.00
R4825:Atp2b1	UTSW	10	99009564	missense	probably damaging	1.00
R5755:Atp2b1	UTSW	10	99003170	missense	probably damaging	1.00
R5755:Atp2b1	UTSW	10	98994809	critical splice donor site	probably null
R6018:Atp2b1	UTSW	10	99010760	missense	probably damaging	1.00
R6179:Atp2b1	UTSW	10	99022829	missense	probably damaging	1.00
R6455:Atp2b1	UTSW	10	99016980	missense	possibly damaging	0.76
R6496:Atp2b1	UTSW	10	99003337	missense	probably damaging	0.98
R6786:Atp2b1	UTSW	10	99016959	missense	probably damaging	1.00
R6814:Atp2b1	UTSW	10	99023015	missense	possibly damaging	0.87
R7034:Atp2b1	UTSW	10	98987310	missense	probably damaging	1.00
R7036:Atp2b1	UTSW	10	98987310	missense	probably damaging	1.00
R7079:Atp2b1	UTSW	10	99018733	missense	probably benign	0.01
R7216:Atp2b1	UTSW	10	98986977	missense	probably benign	0.30
R7510:Atp2b1	UTSW	10	98993896	missense	probably benign	0.01
R7562:Atp2b1	UTSW	10	99022805	splice site	probably null
R7651:Atp2b1	UTSW	10	99016968	missense	probably damaging	0.99
R7739:Atp2b1	UTSW	10	99001365	missense	probably benign	0.01
R8005:Atp2b1	UTSW	10	98994799	missense	probably damaging	1.00
Z1177:Atp2b1	UTSW	10	99018848	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACAGAGTTGCAGTGGGTAGC -3'
(R):5'- AGTCCTGGAATCACTGCCTG -3'

Sequencing Primer
(F):5'- CGGCTGCTACATTTAAACAATTGTCC -3'
(R):5'- GGAATCACTGCCTGCATTTTTAAGG -3'

Posted On

2014-06-30