Mutagenetix > Incidental Mutation

Incidental Mutation 'R7651:Atp2b1'

590860

Institutional Source

Beutler Lab

Gene Symbol

Atp2b1

Ensembl Gene

ENSMUSG00000019943

Gene Name

ATPase, Ca++ transporting, plasma membrane 1

Synonyms

PMCA1, 2810442I22Rik, E130111D10Rik

MMRRC Submission

045728-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7651 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98750268-98862005 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 98852830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 1036 (L1036F)

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: L1036F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020107
Gene: ENSMUSG00000019943
AA Change: L1036F

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 damaging
Transcript: ENSMUST00000220104
AA Change: L104F

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

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	T	G	11: 58,184,188 (GRCm39)	V302G		Het
A230072I06Rik	T	C	8: 12,329,689 (GRCm39)	I48T	unknown	Het
Ada	T	A	2: 163,574,275 (GRCm39)	D127V	probably damaging	Het
Alb	G	C	5: 90,615,214 (GRCm39)	R242P	probably damaging	Het
Ankrd34c	T	C	9: 89,611,463 (GRCm39)	R293G	possibly damaging	Het
Ap2b1	T	C	11: 83,230,256 (GRCm39)		probably null	Het
Arhgef16	A	G	4: 154,375,524 (GRCm39)	S157P	probably damaging	Het
Ccdc27	A	T	4: 154,112,556 (GRCm39)	I573N	probably damaging	Het
Cep164	T	C	9: 45,685,150 (GRCm39)	E869G	probably benign	Het
Colq	A	T	14: 31,250,292 (GRCm39)	V381D	possibly damaging	Het
Drc1	A	G	5: 30,516,958 (GRCm39)	E519G	probably benign	Het
Drosha	G	A	15: 12,859,522 (GRCm39)	V577I	probably benign	Het
Epg5	C	T	18: 78,024,615 (GRCm39)	Q1157*	probably null	Het
Eqtn	T	C	4: 94,811,944 (GRCm39)	S150G	possibly damaging	Het
Fam110d	C	T	4: 133,978,959 (GRCm39)	R173H	probably damaging	Het
Fam216a	G	A	5: 122,505,445 (GRCm39)	H172Y	probably damaging	Het
Fbxw19	T	A	9: 109,323,714 (GRCm39)	D87V	probably damaging	Het
Fgr	A	T	4: 132,722,324 (GRCm39)	I198F	probably damaging	Het
Flnc	A	G	6: 29,444,049 (GRCm39)	D621G	probably benign	Het
Flt3	A	C	5: 147,291,732 (GRCm39)	Y573D	probably damaging	Het
Git2	A	T	5: 114,871,296 (GRCm39)	I603N	probably damaging	Het
Gm4559	C	T	7: 141,827,553 (GRCm39)	R183K	unknown	Het
Gnb5	T	C	9: 75,250,853 (GRCm39)	F326L	probably damaging	Het
Grm8	A	T	6: 27,760,257 (GRCm39)	W358R	possibly damaging	Het
Hoxa3	A	G	6: 52,149,253 (GRCm39)	V126A	unknown	Het
Hras	T	C	7: 140,772,064 (GRCm39)	T144A	possibly damaging	Het
Hyal1	G	A	9: 107,455,569 (GRCm39)	R293H	probably damaging	Het
Ifnlr1	A	G	4: 135,417,919 (GRCm39)	S49G	possibly damaging	Het
Ighv8-11	C	A	12: 115,531,005 (GRCm39)	C41F	probably benign	Het
Jakmip1	A	G	5: 37,291,617 (GRCm39)	T689A	probably damaging	Het
Kcnb1	T	C	2: 167,030,281 (GRCm39)	H88R	probably damaging	Het
Kcnt2	T	A	1: 140,498,199 (GRCm39)	M892K	probably benign	Het
Lrba	C	A	3: 86,648,773 (GRCm39)	S2507*	probably null	Het
Mbp	C	T	18: 82,572,499 (GRCm39)	T65I	probably damaging	Het
Muc2	A	T	7: 141,290,750 (GRCm39)	Y12F		Het
Muc4	T	A	16: 32,576,949 (GRCm39)	S80T		Het
Muc5ac	A	G	7: 141,349,991 (GRCm39)	D579G	possibly damaging	Het
Muc5b	A	G	7: 141,417,760 (GRCm39)	T3569A	possibly damaging	Het
Myb	C	T	10: 21,032,273 (GRCm39)	R36H	probably damaging	Het
Myo6	T	C	9: 80,171,548 (GRCm39)		probably null	Het
Ogfod1	T	C	8: 94,763,981 (GRCm39)	V22A	probably benign	Het
Orai3	A	G	7: 127,373,236 (GRCm39)	I246V	probably damaging	Het
Otog	A	G	7: 45,891,185 (GRCm39)	M68V	probably benign	Het
Pcdh20	T	A	14: 88,706,589 (GRCm39)	D237V	probably damaging	Het
Pcdhb18	T	C	18: 37,624,046 (GRCm39)	F459L	probably benign	Het
Pik3c2g	C	T	6: 139,599,070 (GRCm39)	T62M	possibly damaging	Het
Plaa	T	C	4: 94,470,876 (GRCm39)	Y420C	probably damaging	Het
Ppp1r9b	C	T	11: 94,892,768 (GRCm39)	A656V	probably benign	Het
Pramel39-ps	T	C	5: 94,451,236 (GRCm39)	T297A	probably benign	Het
Prg4	T	A	1: 150,330,696 (GRCm39)	E659V	unknown	Het
Prlhr	C	A	19: 60,455,583 (GRCm39)	A328S	probably benign	Het
Prlr	A	T	15: 10,328,464 (GRCm39)	D313V	probably benign	Het
Prune2	C	T	19: 17,097,772 (GRCm39)	T1092I	probably damaging	Het
Psme4	T	A	11: 30,787,334 (GRCm39)	L1043H	probably damaging	Het
Ptprr	T	C	10: 116,087,084 (GRCm39)	V521A	probably benign	Het
Rab44	A	T	17: 29,367,179 (GRCm39)	D703V	unknown	Het
Rpl9-ps1	A	T	11: 83,535,911 (GRCm39)	Y179*	probably null	Het
Scg3	T	A	9: 75,589,332 (GRCm39)	N107I	probably benign	Het
Sh3bgrl2	T	C	9: 83,430,525 (GRCm39)	V5A	possibly damaging	Het
Slc7a12	T	C	3: 14,546,509 (GRCm39)	V218A	probably benign	Het
Sorcs2	A	G	5: 36,185,322 (GRCm39)	L918P	probably damaging	Het
Sox1	C	A	8: 12,446,686 (GRCm39)	A109E	probably damaging	Het
Syne1	T	A	10: 5,155,074 (GRCm39)	M5622L	probably benign	Het
Syne1	A	T	10: 5,293,416 (GRCm39)	L1305Q	probably damaging	Het
Tacc2	A	T	7: 130,224,884 (GRCm39)	H523L	probably benign	Het
Tas1r2	A	T	4: 139,396,938 (GRCm39)	D788V	probably benign	Het
Tcl1b5	T	A	12: 105,142,694 (GRCm39)	D7E	possibly damaging	Het
Tesc	A	G	5: 118,194,666 (GRCm39)	D159G	possibly damaging	Het
Tm2d2	G	T	8: 25,507,316 (GRCm39)		probably benign	Het
Tnfrsf11a	T	A	1: 105,737,171 (GRCm39)	C93S	probably damaging	Het
Tnfsf4	T	C	1: 161,244,593 (GRCm39)	V94A	probably benign	Het
Trav13n-3	T	A	14: 53,574,964 (GRCm39)	Y69N	probably benign	Het
Utp20	T	C	10: 88,590,457 (GRCm39)	D2339G	probably benign	Het
Vmn1r225	A	G	17: 20,722,611 (GRCm39)	I17M	possibly damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r114	G	T	17: 23,509,986 (GRCm39)	Y831*	probably null	Het
Vmn2r72	T	A	7: 85,401,146 (GRCm39)	N91I	probably damaging	Het
Zfp846	T	C	9: 20,499,808 (GRCm39)	S13P	possibly damaging	Het
Zfp934	G	T	13: 62,666,327 (GRCm39)	N116K	probably benign	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
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
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'- GCGAGAACATACAGGTATTCCTTTG -3'
(R):5'- CAAGCGCCATCTTGGACAAG -3'

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

Posted On

2019-10-24