Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4453001:Atp2b1'

555337

Institutional Source

Beutler Lab

Gene Symbol

Atp2b1

Ensembl Gene

ENSMUSG00000019943

Gene Name

ATPase, Ca++ transporting, plasma membrane 1

Synonyms

PMCA1, 2810442I22Rik, E130111D10Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4453001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98914406-99026143 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99016978 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1039 (E1039G)

Ref Sequence

ENSEMBL: ENSMUSP00000020107 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020107] [ENSMUST00000220104]

Predicted Effect

probably benign
Transcript: ENSMUST00000020107
AA Change: E1039G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000020107
Gene: ENSMUSG00000019943
AA Change: E1039G

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: ENSMUST00000220104
AA Change: E107G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

Coding Region Coverage

1x: 93.3%
3x: 90.9%
10x: 85.6%
20x: 74.1%

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 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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	G	3: 122,105,316	I649S	probably damaging	Het
Abcc2	T	A	19: 43,803,782	L334*	probably null	Het
Adam28	A	T	14: 68,634,876	S306T	probably benign	Het
Adam34	T	A	8: 43,651,312	D432V	probably damaging	Het
Adcy7	A	G	8: 88,323,636	Y723C	probably benign	Het
Adgre5	T	A	8: 83,724,460	M713L	probably benign	Het
Aebp2	C	A	6: 140,637,686	C295*	probably null	Het
Amn1	G	T	6: 149,170,859	Q127K	probably benign	Het
Atcay	C	T	10: 81,210,549	V314M	probably damaging	Het
Atp1a1	T	C	3: 101,581,179	E847G	probably benign	Het
Caskin1	A	G	17: 24,499,292	Y292C	probably damaging	Het
Cftr	A	G	6: 18,214,106	T94A	probably damaging	Het
Ciart	T	A	3: 95,880,476	K182M	probably damaging	Het
Col1a2	A	C	6: 4,527,079	S603R	possibly damaging	Het
Cspp1	C	A	1: 10,074,872	S298R	possibly damaging	Het
Cul7	T	A	17: 46,651,820	C126S	probably damaging	Het
Cyp2c55	A	T	19: 39,011,791	I145F	probably damaging	Het
Cypt4	G	C	9: 24,625,474	A87P	probably damaging	Het
Disp2	G	A	2: 118,787,644	V224M	probably benign	Het
Dlgap5	TTC	T	14: 47,401,522		probably null	Het
Dock1	A	G	7: 135,152,300	K1602R	probably benign	Het
Ears2	T	C	7: 122,048,339	I241V	probably benign	Het
Eml6	T	C	11: 29,802,489	T975A	probably damaging	Het
Ephb2	T	C	4: 136,660,810	T660A	probably benign	Het
Fbxw7	G	A	3: 84,965,314	V268M		Het
Gart	A	G	16: 91,636,538	F289S	probably damaging	Het
Gmcl1	G	T	6: 86,704,538	N391K	probably benign	Het
Greb1l	A	C	18: 10,533,031	Q975P	probably damaging	Het
Greb1l	G	T	18: 10,533,032	Q975H	probably benign	Het
Grik5	C	A	7: 25,010,694	R872L	probably damaging	Het
Hmox2	T	A	16: 4,765,057	I218N	probably damaging	Het
Hook1	A	T	4: 96,014,852	D526V	probably damaging	Het
Ifna4	A	T	4: 88,841,954	N32Y	probably damaging	Het
Ighg2b	T	A	12: 113,306,872	N213Y	unknown	Het
Itih4	G	A	14: 30,901,170	V900I	probably benign	Het
Itpr2	A	T	6: 146,373,173	F837Y	probably damaging	Het
Kif3a	T	C	11: 53,579,114	V147A	probably benign	Het
Klra9	T	A	6: 130,191,321		probably benign	Het
Lamp3	G	T	16: 19,673,460	Q345K	probably benign	Het
Ltbp3	G	A	19: 5,757,794	E1188K	probably damaging	Het
Med1	T	A	11: 98,158,417	I518L	probably benign	Het
Mis18bp1	T	C	12: 65,158,673	T242A	probably damaging	Het
Nemp1	T	A	10: 127,696,254	F392Y	probably benign	Het
Obscn	C	A	11: 59,060,976	G3984W	probably damaging	Het
Obscn	T	A	11: 59,069,834	H3217L	possibly damaging	Het
Olfr1157	C	T	2: 87,962,458	V145M	possibly damaging	Het
Olfr1328	A	G	4: 118,934,626	M74T	probably benign	Het
Olfr1532-ps1	C	T	7: 106,914,929	H244Y	probably damaging	Het
Olfr709-ps1	T	C	7: 106,926,842	I206V	probably benign	Het
Olfr71	A	G	4: 43,706,464	Y35H	probably damaging	Het
P4ha1	G	T	10: 59,350,472	A258S	probably benign	Het
Parn	T	C	16: 13,607,281	I423V	probably benign	Het
Pcdh20	C	A	14: 88,467,308	S852I	probably damaging	Het
Pcnx3	A	G	19: 5,672,756		probably null	Het
Pcsk1	A	T	13: 75,112,650	I331F	probably damaging	Het
Pkd1l2	G	T	8: 117,022,022	S1803R	probably benign	Het
Pkd1l3	C	A	8: 109,660,801	N1792K	probably damaging	Het
Plekhg1	C	A	10: 3,963,469	Q1119K		Het
Prr30	T	A	14: 101,198,935	T64S	probably benign	Het
Rec114	T	C	9: 58,660,370	N111S	probably benign	Het
Reck	G	A	4: 43,895,850	V79I	probably benign	Het
Rexo1	A	G	10: 80,550,397	F276L	probably damaging	Het
Rgs6	T	C	12: 83,091,779	Y296H	probably damaging	Het
Sdk1	A	G	5: 142,212,038	R2149G	probably benign	Het
Slc20a2	C	A	8: 22,535,382	F33L	probably damaging	Het
Spopl	T	A	2: 23,545,449	T25S	probably damaging	Het
Srcap	A	T	7: 127,549,320	I1947F	possibly damaging	Het
Srek1	A	C	13: 103,744,783		probably null	Het
St8sia1	C	T	6: 142,829,252	W200*	probably null	Het
Tas2r106	A	T	6: 131,678,502	F129I	possibly damaging	Het
Tbrg4	A	T	11: 6,620,857	L205Q	probably damaging	Het
Tchh	C	A	3: 93,445,880	R876S	unknown	Het
Thap12	G	T	7: 98,715,038	A138S	probably benign	Het
Tjp1	C	T	7: 65,343,614		probably null	Het
Traf4	G	A	11: 78,161,534	P95L	probably benign	Het
Trappc9	ATCTC	ATCTCTC	15: 73,031,598		probably null	Het
Usp20	G	A	2: 31,017,486	V677M	possibly damaging	Het
Usp50	C	A	2: 126,783,316		probably benign	Het
Vmn1r21	T	C	6: 57,844,322	T46A	probably benign	Het
Vmn2r54	T	A	7: 12,629,742	H408L	probably benign	Het
Zfp266	T	C	9: 20,506,003	T30A	probably benign	Het
Zfp536	T	C	7: 37,479,757	H1141R	probably benign	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
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
R1868: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	splice site	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
R8111:Atp2b1	UTSW	10	98996924	missense	possibly damaging	0.95
Z1177:Atp2b1	UTSW	10	99018848	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGCGAGAACATACAGGTATTCC -3'
(R):5'- AAGCGCCATCTTGGACAAGC -3'

Sequencing Primer
(F):5'- GCGAGAACATACAGGTATTCCTTTGG -3'
(R):5'- ATCTTGGACAAGCCGCCTAG -3'

Posted On

2019-06-07