Mutagenetix > Incidental Mutation

Incidental Mutation 'R1867:Atp2b1'

208855

Institutional Source

Beutler Lab

Gene Symbol

Atp2b1

Ensembl Gene

ENSMUSG00000019943

Gene Name

ATPase, Ca++ transporting, plasma membrane 1

Synonyms

PMCA1, 2810442I22Rik, E130111D10Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1867 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98750268-98862005 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98832750 bp (GRCm39)

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]

AlphaFold

G5E829

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: 95.3%
20x: 92.8%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	A	T	5: 66,157,560 (GRCm39)	M1K	probably null	Het
Abca4	T	A	3: 121,899,010 (GRCm39)	I664N	probably damaging	Het
Acin1	T	C	14: 54,881,718 (GRCm39)	D335G	probably damaging	Het
Acoxl	A	G	2: 127,719,707 (GRCm39)	Y156C	probably damaging	Het
Adamts20	A	G	15: 94,236,340 (GRCm39)	F844L	probably benign	Het
Ago1	A	G	4: 126,335,029 (GRCm39)	Y398H	probably damaging	Het
Aldob	A	G	4: 49,543,835 (GRCm39)	V49A	possibly damaging	Het
Arhgap18	A	G	10: 26,722,026 (GRCm39)	E71G	probably damaging	Het
Asb12	G	T	X: 94,513,950 (GRCm39)	H307N	probably damaging	Het
AY358078	T	C	14: 52,037,504 (GRCm39)	M1T	probably null	Het
Bcl2l15	A	G	3: 103,745,914 (GRCm39)		probably null	Het
Brpf3	A	G	17: 29,026,342 (GRCm39)	M472V	probably benign	Het
Bsn	A	G	9: 107,983,918 (GRCm39)	S3379P	unknown	Het
Cap2	T	C	13: 46,793,555 (GRCm39)	V333A	probably damaging	Het
Cd207	T	A	6: 83,652,635 (GRCm39)	D165V	probably damaging	Het
Cfap210	A	T	2: 69,612,181 (GRCm39)		probably null	Het
Cmtr1	A	G	17: 29,893,148 (GRCm39)	T496A	probably benign	Het
Col14a1	T	A	15: 55,310,858 (GRCm39)		probably benign	Het
Cstb	A	G	10: 78,263,273 (GRCm39)	*99W	probably null	Het
Cstdc6	T	G	16: 36,142,148 (GRCm39)	D76A	possibly damaging	Het
Ddx11	G	A	17: 66,442,934 (GRCm39)		probably null	Het
Dip2c	T	C	13: 9,671,985 (GRCm39)	M990T	possibly damaging	Het
Epc2	A	G	2: 49,422,117 (GRCm39)	Y337C	probably damaging	Het
Fmn1	A	G	2: 113,539,783 (GRCm39)	E1326G	probably damaging	Het
Focad	A	T	4: 88,096,326 (GRCm39)	D236V	probably damaging	Het
Fsd1	G	A	17: 56,298,254 (GRCm39)	S193N	probably benign	Het
Gm4922	T	A	10: 18,660,211 (GRCm39)	R170S	possibly damaging	Het
Gm5129	T	C	5: 29,940,654 (GRCm39)		probably benign	Het
Gucy2d	T	A	7: 98,103,268 (GRCm39)	L504H	probably damaging	Het
Hspbap1	A	T	16: 35,621,934 (GRCm39)	Y93F	possibly damaging	Het
Iars2	A	T	1: 185,050,765 (GRCm39)	D441E	probably benign	Het
Il1rap	A	T	16: 26,541,676 (GRCm39)	H639L	probably damaging	Het
Inhbc	A	T	10: 127,193,416 (GRCm39)	V200E	probably benign	Het
Ints8	C	A	4: 11,241,684 (GRCm39)	C253F	probably damaging	Het
Intu	G	T	3: 40,618,765 (GRCm39)	G257V	probably damaging	Het
Kif23	C	A	9: 61,826,243 (GRCm39)	A929S	possibly damaging	Het
Kmt2b	A	T	7: 30,274,083 (GRCm39)	V2207E	possibly damaging	Het
Ksr2	A	C	5: 117,643,594 (GRCm39)	E121A	probably benign	Het
Lce1b	A	G	3: 92,563,318 (GRCm39)	S72P	unknown	Het
Lpl	TGG	TG	8: 69,349,254 (GRCm39)		probably null	Het
Mcmdc2	T	C	1: 10,001,030 (GRCm39)	V435A	probably damaging	Het
Mecom	A	G	3: 30,563,577 (GRCm39)		probably null	Het
Mier2	A	G	10: 79,384,664 (GRCm39)	V150A	probably damaging	Het
Mmp16	A	T	4: 18,116,013 (GRCm39)	D539V	probably benign	Het
Mpp1	A	G	X: 74,168,975 (GRCm39)		probably null	Het
Mpp2	C	T	11: 101,955,493 (GRCm39)	E86K	probably benign	Het
Mtor	T	A	4: 148,539,089 (GRCm39)	F195L	probably damaging	Het
Myo3a	T	C	2: 22,404,657 (GRCm39)	I663T	probably benign	Het
Nlrp5	G	A	7: 23,123,407 (GRCm39)	G756E	possibly damaging	Het
Nudt18	T	C	14: 70,817,335 (GRCm39)	L255P	probably damaging	Het
Nup62	T	A	7: 44,478,472 (GRCm39)	S162R	possibly damaging	Het
Oosp2	C	T	19: 11,626,959 (GRCm39)		probably null	Het
Or52n20	T	A	7: 104,320,524 (GRCm39)	I205N	possibly damaging	Het
Or6c66	A	T	10: 129,461,621 (GRCm39)	I103K	probably damaging	Het
Or7g20	G	A	9: 18,946,562 (GRCm39)	A48T	probably benign	Het
Or8h7	A	G	2: 86,720,956 (GRCm39)	S188P	probably damaging	Het
Pan2	A	G	10: 128,149,050 (GRCm39)	D506G	probably damaging	Het
Pcdh9	G	A	14: 94,125,471 (GRCm39)	S233L	probably damaging	Het
Pcdhgc5	T	G	18: 37,954,471 (GRCm39)	S582A	possibly damaging	Het
Pdik1l	T	C	4: 134,006,222 (GRCm39)	D70G	probably damaging	Het
Peg12	T	C	7: 62,113,416 (GRCm39)	H227R	probably benign	Het
Pms1	C	T	1: 53,228,546 (GRCm39)	V901I	probably benign	Het
Pnisr	C	T	4: 21,874,086 (GRCm39)		probably benign	Het
Pole	A	G	5: 110,482,063 (GRCm39)	E135G	probably benign	Het
Ppp6r2	C	A	15: 89,166,141 (GRCm39)	A715E	probably benign	Het
Prickle4	T	G	17: 48,001,044 (GRCm39)	H174P	possibly damaging	Het
Prl2a1	T	C	13: 27,988,923 (GRCm39)	L16P	probably damaging	Het
Prss32	C	T	17: 24,072,868 (GRCm39)	T33M	probably benign	Het
Psmd13	C	T	7: 140,463,430 (GRCm39)	T38I	probably damaging	Het
Rai14	C	A	15: 10,633,314 (GRCm39)	Q25H	probably damaging	Het
Rbbp6	T	C	7: 122,596,252 (GRCm39)	V598A	probably damaging	Het
Rbm34	C	A	8: 127,697,631 (GRCm39)	A27S	probably benign	Het
Rbm4b	A	G	19: 4,812,331 (GRCm39)	T247A	probably benign	Het
Riiad1	G	A	3: 94,380,176 (GRCm39)	P40S	possibly damaging	Het
Sema4f	T	C	6: 82,894,824 (GRCm39)	D457G	possibly damaging	Het
Sema6c	A	T	3: 95,078,099 (GRCm39)	I492F	probably damaging	Het
Serpina3a	A	T	12: 104,084,886 (GRCm39)	I94L	probably benign	Het
Skida1	TTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTG	2: 18,051,155 (GRCm39)		probably benign	Het
Slc38a1	G	A	15: 96,485,016 (GRCm39)	T221M	probably damaging	Het
Slc6a17	T	A	3: 107,379,492 (GRCm39)	M559L	probably damaging	Het
Sntg2	T	C	12: 30,286,650 (GRCm39)	N315D	probably benign	Het
Snx10	T	A	6: 51,552,890 (GRCm39)	V11E	probably damaging	Het
Spta1	A	G	1: 174,047,405 (GRCm39)	E1683G	probably benign	Het
Ssc5d	A	T	7: 4,931,506 (GRCm39)	R238W	probably damaging	Het
Ssh1	A	T	5: 114,081,512 (GRCm39)	F617L	probably damaging	Het
Taf1	T	G	X: 100,606,563 (GRCm39)	M1254R	probably damaging	Het
Tcirg1	A	G	19: 3,948,835 (GRCm39)	L450P	probably damaging	Het
Ticam1	C	A	17: 56,578,718 (GRCm39)	A126S	probably benign	Het
Tnxb	T	A	17: 34,890,821 (GRCm39)	V388E	probably damaging	Het
Tomm5	A	G	4: 45,107,939 (GRCm39)	L32P	probably damaging	Het
Ubr5	A	T	15: 38,042,090 (GRCm39)	S169T	probably benign	Het
Usp28	T	G	9: 48,920,494 (GRCm39)	D240E	probably benign	Het
Usp34	T	C	11: 23,311,593 (GRCm39)	Y462H	possibly damaging	Het
Utp14b	C	A	1: 78,643,148 (GRCm39)	Q349K	probably damaging	Het
Utp20	G	T	10: 88,585,305 (GRCm39)	D2586E	probably benign	Het
Vmn1r173	A	G	7: 23,402,660 (GRCm39)	I298M	unknown	Het
Vmn1r37	T	A	6: 66,708,461 (GRCm39)	I29K	probably benign	Het
Vmn2r23	G	A	6: 123,679,874 (GRCm39)	G32D	probably damaging	Het
Xpo7	A	T	14: 70,931,431 (GRCm39)	F296I	probably damaging	Het
Zfhx4	A	G	3: 5,477,774 (GRCm39)	E3463G	probably damaging	Het
Zfp455	G	T	13: 67,355,509 (GRCm39)	R194L	probably benign	Het
Zfp663	T	C	2: 165,194,651 (GRCm39)	T523A	possibly damaging	Het

Other mutations in Atp2b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00897:Atp2b1	APN	10	98,850,882 (GRCm39)	missense	possibly damaging	0.84
IGL00972:Atp2b1	APN	10	98,850,906 (GRCm39)	missense	probably damaging	1.00
IGL00977:Atp2b1	APN	10	98,822,837 (GRCm39)	missense	possibly damaging	0.88
IGL01154:Atp2b1	APN	10	98,832,750 (GRCm39)	missense	probably damaging	1.00
IGL03073:Atp2b1	APN	10	98,835,713 (GRCm39)	missense	probably damaging	1.00
IGL03081:Atp2b1	APN	10	98,830,675 (GRCm39)	splice site	probably benign
PIT4453001:Atp2b1	UTSW	10	98,852,840 (GRCm39)	missense	probably benign	0.00
R0157:Atp2b1	UTSW	10	98,835,809 (GRCm39)	missense	probably damaging	0.99
R0200:Atp2b1	UTSW	10	98,815,676 (GRCm39)	nonsense	probably null
R0899:Atp2b1	UTSW	10	98,852,893 (GRCm39)	critical splice donor site	probably null
R0981:Atp2b1	UTSW	10	98,851,491 (GRCm39)	missense	probably damaging	1.00
R1163:Atp2b1	UTSW	10	98,815,713 (GRCm39)	missense	possibly damaging	0.91
R1569:Atp2b1	UTSW	10	98,823,188 (GRCm39)	missense	probably benign	0.02
R1572:Atp2b1	UTSW	10	98,830,537 (GRCm39)	missense	probably benign	0.10
R1574:Atp2b1	UTSW	10	98,832,810 (GRCm39)	missense	probably damaging	1.00
R1574:Atp2b1	UTSW	10	98,832,810 (GRCm39)	missense	probably damaging	1.00
R1721:Atp2b1	UTSW	10	98,832,750 (GRCm39)	missense	probably damaging	1.00
R1782:Atp2b1	UTSW	10	98,839,063 (GRCm39)	missense	probably benign	0.01
R1840:Atp2b1	UTSW	10	98,858,791 (GRCm39)	missense	probably benign	0.00
R1868:Atp2b1	UTSW	10	98,832,750 (GRCm39)	missense	probably damaging	1.00
R1944:Atp2b1	UTSW	10	98,858,793 (GRCm39)	missense	probably damaging	0.97
R1984:Atp2b1	UTSW	10	98,850,354 (GRCm39)	missense	possibly damaging	0.95
R2055:Atp2b1	UTSW	10	98,850,421 (GRCm39)	missense	probably damaging	1.00
R2325:Atp2b1	UTSW	10	98,854,757 (GRCm39)	nonsense	probably null
R2399:Atp2b1	UTSW	10	98,835,785 (GRCm39)	missense	probably benign	0.02
R2876:Atp2b1	UTSW	10	98,835,607 (GRCm39)	missense	probably damaging	0.96
R3762:Atp2b1	UTSW	10	98,845,351 (GRCm39)	missense	probably damaging	1.00
R3776:Atp2b1	UTSW	10	98,815,731 (GRCm39)	frame shift	probably null
R3808:Atp2b1	UTSW	10	98,839,010 (GRCm39)	missense	possibly damaging	0.74
R3978:Atp2b1	UTSW	10	98,832,795 (GRCm39)	splice site	probably null
R4391:Atp2b1	UTSW	10	98,839,076 (GRCm39)	missense	probably benign	0.00
R4825:Atp2b1	UTSW	10	98,845,426 (GRCm39)	missense	probably damaging	1.00
R5755:Atp2b1	UTSW	10	98,830,671 (GRCm39)	critical splice donor site	probably null
R5755:Atp2b1	UTSW	10	98,839,032 (GRCm39)	missense	probably damaging	1.00
R6018:Atp2b1	UTSW	10	98,846,622 (GRCm39)	missense	probably damaging	1.00
R6179:Atp2b1	UTSW	10	98,858,691 (GRCm39)	missense	probably damaging	1.00
R6455:Atp2b1	UTSW	10	98,852,842 (GRCm39)	missense	possibly damaging	0.76
R6496:Atp2b1	UTSW	10	98,839,199 (GRCm39)	missense	probably damaging	0.98
R6786:Atp2b1	UTSW	10	98,852,821 (GRCm39)	missense	probably damaging	1.00
R6814:Atp2b1	UTSW	10	98,858,877 (GRCm39)	missense	possibly damaging	0.87
R7034:Atp2b1	UTSW	10	98,823,172 (GRCm39)	missense	probably damaging	1.00
R7036:Atp2b1	UTSW	10	98,823,172 (GRCm39)	missense	probably damaging	1.00
R7079:Atp2b1	UTSW	10	98,854,595 (GRCm39)	missense	probably benign	0.01
R7216:Atp2b1	UTSW	10	98,822,839 (GRCm39)	missense	probably benign	0.30
R7510:Atp2b1	UTSW	10	98,829,758 (GRCm39)	missense	probably benign	0.01
R7562:Atp2b1	UTSW	10	98,858,667 (GRCm39)	splice site	probably null
R7651:Atp2b1	UTSW	10	98,852,830 (GRCm39)	missense	probably damaging	0.99
R7739:Atp2b1	UTSW	10	98,837,227 (GRCm39)	missense	probably benign	0.01
R8005:Atp2b1	UTSW	10	98,830,661 (GRCm39)	missense	probably damaging	1.00
R8111:Atp2b1	UTSW	10	98,832,786 (GRCm39)	missense	possibly damaging	0.95
R8904:Atp2b1	UTSW	10	98,804,866 (GRCm39)	missense	possibly damaging	0.62
R9419:Atp2b1	UTSW	10	98,837,178 (GRCm39)	missense	possibly damaging	0.56
R9495:Atp2b1	UTSW	10	98,835,660 (GRCm39)	missense	probably damaging	0.99
R9506:Atp2b1	UTSW	10	98,858,862 (GRCm39)	missense	probably benign	0.01
R9682:Atp2b1	UTSW	10	98,815,662 (GRCm39)	missense	possibly damaging	0.90
Z1177:Atp2b1	UTSW	10	98,854,710 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

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

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

Posted On

2014-06-30