Mutagenetix > Incidental Mutation

Incidental Mutation 'R1944:Atp2b1'

216477

Institutional Source

Beutler Lab

Gene Symbol

Atp2b1

Ensembl Gene

ENSMUSG00000019943

Gene Name

ATPase, Ca++ transporting, plasma membrane 1

Synonyms

PMCA1, 2810442I22Rik, E130111D10Rik

MMRRC Submission

039962-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1944 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98750268-98862005 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98858793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1159 (I1159F)

Ref Sequence

ENSEMBL: ENSMUSP00000020107 (fasta)

Gene Model

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

AlphaFold

G5E829

Predicted Effect

probably damaging
Transcript: ENSMUST00000020107
AA Change: I1159F

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000020107
Gene: ENSMUSG00000019943
AA Change: I1159F

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

noncoding transcript
Transcript: ENSMUST00000218419

Predicted Effect

probably benign
Transcript: ENSMUST00000218948

Predicted Effect

probably benign
Transcript: ENSMUST00000220104
AA Change: I256F

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000220124

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

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
Abcb4	A	T	5: 8,980,796 (GRCm39)	N593Y	probably damaging	Het
Adamts16	C	T	13: 70,940,005 (GRCm39)	S406N	possibly damaging	Het
Adgrg1	G	A	8: 95,733,928 (GRCm39)	V350I	probably damaging	Het
Adgrv1	A	T	13: 81,659,030 (GRCm39)	D2051E	probably damaging	Het
Adrb2	C	A	18: 62,312,484 (GRCm39)	V114L	probably damaging	Het
Ago3	A	G	4: 126,247,520 (GRCm39)	V599A	probably damaging	Het
AI837181	T	C	19: 5,476,257 (GRCm39)	V140A	probably damaging	Het
Ankrd16	T	A	2: 11,788,443 (GRCm39)		probably null	Het
Arnt2	A	G	7: 83,992,959 (GRCm39)	S194P	probably benign	Het
Art2b	T	C	7: 101,229,153 (GRCm39)	N249D	probably benign	Het
Atat1	A	G	17: 36,220,232 (GRCm39)	L60P	probably damaging	Het
Atrip	T	A	9: 108,900,935 (GRCm39)	I135F	probably damaging	Het
Bbs4	T	G	9: 59,237,698 (GRCm39)		probably null	Het
Bdp1	A	T	13: 100,210,889 (GRCm39)		probably null	Het
Best2	A	G	8: 85,737,390 (GRCm39)		probably null	Het
Cacna1c	A	G	6: 118,583,227 (GRCm39)	I1516T	probably damaging	Het
Cadps2	T	C	6: 23,599,479 (GRCm39)	I276V	probably damaging	Het
Carmil3	T	C	14: 55,736,087 (GRCm39)	S610P	probably damaging	Het
Caskin1	A	G	17: 24,719,745 (GRCm39)	I375V	probably damaging	Het
Ccdc168	G	A	1: 44,101,009 (GRCm39)	P30S	probably damaging	Het
Ccdc92b	A	G	11: 74,520,835 (GRCm39)	I46V	probably benign	Het
Clec11a	G	T	7: 43,954,098 (GRCm39)	T285K	probably benign	Het
Clk3	G	T	9: 57,672,469 (GRCm39)	T111K	probably benign	Het
Col6a6	G	A	9: 105,586,583 (GRCm39)	R1813C	probably damaging	Het
Col7a1	G	A	9: 108,789,078 (GRCm39)	V798I	unknown	Het
Ctrb1	C	A	8: 112,416,151 (GRCm39)	W45L	probably damaging	Het
Cubn	T	A	2: 13,283,349 (GRCm39)	S3530C	probably benign	Het
Dio1	A	G	4: 107,163,977 (GRCm39)		probably null	Het
Dock5	A	T	14: 67,994,584 (GRCm39)	Y1825*	probably null	Het
Duox1	A	T	2: 122,177,001 (GRCm39)	Q1476L	probably damaging	Het
Dync2h1	A	T	9: 7,001,377 (GRCm39)	H3877Q	probably damaging	Het
Enkd1	A	G	8: 106,434,208 (GRCm39)	S85P	probably damaging	Het
Erap1	A	G	13: 74,794,758 (GRCm39)	D139G	probably benign	Het
Ern1	A	G	11: 106,312,776 (GRCm39)	S202P	probably damaging	Het
F11r	T	C	1: 171,289,459 (GRCm39)	Y261H	probably damaging	Het
Glp2r	A	T	11: 67,637,618 (GRCm39)	S138T	probably benign	Het
Gpt2	A	G	8: 86,244,625 (GRCm39)	Y306C	probably damaging	Het
Grid2	G	C	6: 63,886,045 (GRCm39)	R147P	probably damaging	Het
Gtdc1	A	G	2: 44,642,198 (GRCm39)	F128L	possibly damaging	Het
H2-T15	A	G	17: 36,368,897 (GRCm39)	F61S	probably damaging	Het
Hacd4	T	C	4: 88,341,303 (GRCm39)	T154A	possibly damaging	Het
Heatr6	G	T	11: 83,660,046 (GRCm39)	L530F	probably damaging	Het
Hoxd8	A	T	2: 74,537,056 (GRCm39)	D256V	probably damaging	Het
Ints6	T	C	14: 62,931,089 (GRCm39)	N865D	probably benign	Het
Itpkc	G	T	7: 26,927,084 (GRCm39)	P277T	possibly damaging	Het
Klc4	T	C	17: 46,947,553 (GRCm39)	N383S	probably damaging	Het
Klra6	T	C	6: 129,995,908 (GRCm39)	Y150C	possibly damaging	Het
Krt32	T	A	11: 99,975,670 (GRCm39)		probably null	Het
Krt33a	T	C	11: 99,903,535 (GRCm39)	N199S	probably benign	Het
Krt39	A	C	11: 99,410,649 (GRCm39)	D174E	probably damaging	Het
Krt82	G	A	15: 101,456,970 (GRCm39)	R137W	probably damaging	Het
Lgmn	A	T	12: 102,368,183 (GRCm39)	S193T	probably damaging	Het
Limch1	G	A	5: 67,156,442 (GRCm39)	R300H	probably damaging	Het
Lrpap1	T	A	5: 35,254,974 (GRCm39)	I221F	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,264,459 (GRCm39)	D4883G	probably damaging	Het
Man2b2	A	G	5: 36,973,524 (GRCm39)	V485A	probably benign	Het
Map3k19	T	C	1: 127,750,859 (GRCm39)	T831A	probably benign	Het
Mdfic2	A	G	6: 98,225,151 (GRCm39)	I44T	probably benign	Het
Megf6	C	G	4: 154,340,523 (GRCm39)	D471E	possibly damaging	Het
Mettl8	A	T	2: 70,803,623 (GRCm39)	F268L	probably damaging	Het
Miip	T	C	4: 147,950,422 (GRCm39)	E58G	probably benign	Het
Mycbp2	T	A	14: 103,466,840 (GRCm39)	S1308C	probably damaging	Het
Myo15a	T	C	11: 60,392,909 (GRCm39)	F2194L	probably damaging	Het
Nav3	T	C	10: 109,552,391 (GRCm39)	N1817S	probably damaging	Het
Ndel1	A	T	11: 68,720,746 (GRCm39)	H313Q	probably benign	Het
Neb	A	T	2: 52,118,862 (GRCm39)	H3931Q	probably benign	Het
Nfkb2	T	A	19: 46,296,491 (GRCm39)	V253E	probably damaging	Het
Niban1	T	C	1: 151,571,979 (GRCm39)	I308T	probably damaging	Het
Nono	T	C	X: 100,485,429 (GRCm39)		probably null	Het
Npc1l1	T	A	11: 6,164,588 (GRCm39)	I1154F	possibly damaging	Het
Nr2e1	T	C	10: 42,448,774 (GRCm39)	T155A	probably benign	Het
Oosp2	C	T	19: 11,626,959 (GRCm39)		probably null	Het
Or2b2	A	T	13: 21,887,287 (GRCm39)	I39F	possibly damaging	Het
Pdap1	G	A	5: 145,069,726 (GRCm39)	T93I	probably benign	Het
Pde6c	T	A	19: 38,145,967 (GRCm39)	D418E	probably damaging	Het
Pdha1	T	A	X: 158,910,354 (GRCm39)	D255V	probably damaging	Het
Polr2h	T	A	16: 20,537,796 (GRCm39)	D64E	probably benign	Het
Psmb3	T	C	11: 97,601,981 (GRCm39)	F117S	probably benign	Het
Ptprq	A	T	10: 107,418,249 (GRCm39)	M1709K	probably benign	Het
Rbm15	C	T	3: 107,238,868 (GRCm39)	R510H	probably damaging	Het
Rgs7	A	T	1: 174,980,769 (GRCm39)	M85K	possibly damaging	Het
Rpl27-ps3	T	A	18: 6,332,669 (GRCm39)	V13D	probably damaging	Het
Rtp2	T	A	16: 23,746,316 (GRCm39)	D105V	possibly damaging	Het
Scd3	T	C	19: 44,224,219 (GRCm39)	Y151H	probably benign	Het
Slc30a6	T	G	17: 74,715,858 (GRCm39)	V106G	probably damaging	Het
Slco1a4	T	C	6: 141,785,276 (GRCm39)	I105V	probably benign	Het
Sun3	T	C	11: 8,988,296 (GRCm39)	I9V	probably benign	Het
Syne2	T	C	12: 76,121,318 (GRCm39)	V5928A	probably damaging	Het
Tbr1	T	A	2: 61,642,600 (GRCm39)	S622T	probably damaging	Het
Tgm3	A	G	2: 129,871,889 (GRCm39)	N306D	probably damaging	Het
Tmem132d	A	G	5: 127,860,828 (GRCm39)	*1098Q	probably null	Het
Tmem140	T	C	6: 34,849,747 (GRCm39)	Y88H	probably damaging	Het
Trim60	A	T	8: 65,453,964 (GRCm39)	V95E	possibly damaging	Het
Vamp3	A	G	4: 151,140,617 (GRCm39)		probably null	Het
Vmn1r235	A	C	17: 21,481,785 (GRCm39)	T37P	probably damaging	Het
Vmn2r81	T	G	10: 79,129,571 (GRCm39)	L821V	probably damaging	Het
Vmn2r97	A	G	17: 19,160,500 (GRCm39)	D545G	probably benign	Het
Vps13c	A	T	9: 67,793,558 (GRCm39)	D437V	probably damaging	Het
Wtip	A	T	7: 33,818,363 (GRCm39)	M268K	probably benign	Het
Zfhx2	G	T	14: 55,312,189 (GRCm39)	F168L	probably benign	Het
Zscan22	G	A	7: 12,637,767 (GRCm39)	R53K	probably 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
R1867:Atp2b1	UTSW	10	98,832,750 (GRCm39)	missense	probably damaging	1.00
R1868:Atp2b1	UTSW	10	98,832,750 (GRCm39)	missense	probably damaging	1.00
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'- ACTCATACCTAGCTGTTTGTGG -3'
(R):5'- TCCAAACTATGTAGTGGGCTTCC -3'

Sequencing Primer
(F):5'- GAACCATTACTGTGGCGAAGTTCC -3'
(R):5'- CTTCCTGGGGATGAAGAGGTAGC -3'

Posted On

2014-08-01