Mutagenetix > Incidental Mutation

Incidental Mutation 'R7036:Atp2b1'

546701

Institutional Source

Beutler Lab

Gene Symbol

Atp2b1

Ensembl Gene

ENSMUSG00000019943

Gene Name

ATPase, Ca++ transporting, plasma membrane 1

Synonyms

PMCA1, 2810442I22Rik, E130111D10Rik

MMRRC Submission

045012-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7036 (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 98823172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 244 (T244I)

Ref Sequence

ENSEMBL: ENSMUSP00000151598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020107] [ENSMUST00000219557] [ENSMUST00000219624]

AlphaFold

G5E829

Predicted Effect

probably damaging
Transcript: ENSMUST00000020107
AA Change: T244I

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

SMART Domains

Protein: ENSMUSP00000020107
Gene: ENSMUSG00000019943
AA Change: T244I

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: ENSMUST00000219557

Predicted Effect

probably damaging
Transcript: ENSMUST00000219624
AA Change: T244I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,445,118 (GRCm39)		probably null	Het
Ahnak2	A	G	12: 112,745,216 (GRCm39)		probably benign	Het
Akt2	T	C	7: 27,336,437 (GRCm39)		probably null	Het
Aldh1a7	A	T	19: 20,685,542 (GRCm39)	L336Q	possibly damaging	Het
Ank2	T	C	3: 126,740,041 (GRCm39)		probably benign	Het
Ank3	C	T	10: 69,835,209 (GRCm39)	T680M	probably damaging	Het
Apeh	T	C	9: 107,971,470 (GRCm39)	E59G	possibly damaging	Het
Arl8a	G	C	1: 135,082,206 (GRCm39)	E145Q	probably benign	Het
Armc8	C	T	9: 99,366,018 (GRCm39)		probably null	Het
Armh3	A	G	19: 45,953,688 (GRCm39)	I195T	probably damaging	Het
Arsj	T	C	3: 126,158,649 (GRCm39)	L76P	probably damaging	Het
Bcl6	A	T	16: 23,793,611 (GRCm39)	L112Q	probably damaging	Het
Bfsp1	T	A	2: 143,668,843 (GRCm39)	T579S	possibly damaging	Het
Btaf1	C	A	19: 36,981,869 (GRCm39)	T1633K	probably benign	Het
Cacng8	A	G	7: 3,463,819 (GRCm39)	S324G	probably benign	Het
Cd2ap	A	T	17: 43,109,490 (GRCm39)	L623Q	probably damaging	Het
Cerkl	T	C	2: 79,171,722 (GRCm39)	I379V	probably benign	Het
Cndp2	T	A	18: 84,688,070 (GRCm39)	H307L	possibly damaging	Het
Derl1	A	G	15: 57,742,443 (GRCm39)		probably null	Het
Dixdc1	T	A	9: 50,593,864 (GRCm39)	R254S	probably benign	Het
Dop1b	T	A	16: 93,574,378 (GRCm39)	D30E	probably benign	Het
Duox2	T	G	2: 122,110,934 (GRCm39)	H1513P	probably damaging	Het
Dyrk1a	G	A	16: 94,487,427 (GRCm39)	V546I	probably benign	Het
E130308A19Rik	A	C	4: 59,719,991 (GRCm39)	K508Q	probably damaging	Het
Emc8	A	T	8: 121,385,790 (GRCm39)	V108E	probably benign	Het
Epb41l1	A	G	2: 156,371,322 (GRCm39)	T720A	probably benign	Het
Fcgr4	T	A	1: 170,847,657 (GRCm39)	M85K	probably benign	Het
Fem1b	T	A	9: 62,704,310 (GRCm39)	I317F	probably damaging	Het
Focad	A	G	4: 88,042,874 (GRCm39)	E36G	probably benign	Het
Fryl	C	T	5: 73,212,951 (GRCm39)	E2275K	probably benign	Het
Galnt11	T	C	5: 25,463,811 (GRCm39)	I361T	probably damaging	Het
Garin3	G	A	11: 46,298,235 (GRCm39)	S513N		Het
Gatad2a	A	T	8: 70,370,644 (GRCm39)	N114K	probably damaging	Het
Gcnt2	CTAATG	C	13: 41,041,032 (GRCm39)		probably null	Het
Gramd1a	A	G	7: 30,832,181 (GRCm39)		probably null	Het
Gsn	T	A	2: 35,182,611 (GRCm39)	W187R	probably damaging	Het
Hoxc12	G	A	15: 102,846,795 (GRCm39)	G229D	probably damaging	Het
Hycc2	T	A	1: 58,574,696 (GRCm39)	M282L	probably benign	Het
Ints14	T	C	9: 64,871,827 (GRCm39)	V55A	probably benign	Het
Itga9	T	C	9: 118,527,433 (GRCm39)	L528P	probably benign	Het
Klf1	C	T	8: 85,629,379 (GRCm39)	S68F	possibly damaging	Het
Kmt2e	A	G	5: 23,683,741 (GRCm39)	E333G	probably null	Het
Krt39	A	C	11: 99,412,062 (GRCm39)	V8G	probably benign	Het
Krt71	A	G	15: 101,646,772 (GRCm39)	I312T	probably benign	Het
Lrp1b	T	C	2: 41,002,354 (GRCm39)	D2001G	possibly damaging	Het
Lrrc37	T	A	11: 103,506,638 (GRCm39)		probably benign	Het
Lrrc71	T	C	3: 87,655,693 (GRCm39)	T27A	probably benign	Het
Lrrcc1	T	C	3: 14,628,069 (GRCm39)	V958A	possibly damaging	Het
Med15	A	T	16: 17,516,019 (GRCm39)	M1K	probably null	Het
Mrgpra3	G	T	7: 47,239,838 (GRCm39)	N29K	possibly damaging	Het
Myl1	T	C	1: 66,969,395 (GRCm39)	N79S	probably damaging	Het
Naip2	A	T	13: 100,291,529 (GRCm39)	D1136E	probably benign	Het
Nat10	T	C	2: 103,584,453 (GRCm39)	N108S	probably benign	Het
Ncald	A	T	15: 37,369,122 (GRCm39)	S178T	probably benign	Het
Ndufs2	T	C	1: 171,065,877 (GRCm39)	D256G	probably benign	Het
Nek5	T	C	8: 22,597,739 (GRCm39)	N280S	probably benign	Het
Or5ak25	A	G	2: 85,268,774 (GRCm39)	S243P	probably damaging	Het
Or5d39	T	A	2: 87,979,469 (GRCm39)	D298V	probably damaging	Het
Parp1	G	T	1: 180,425,817 (GRCm39)	K849N	possibly damaging	Het
Pcdhb4	T	A	18: 37,441,835 (GRCm39)	C382S	possibly damaging	Het
Plce1	A	G	19: 38,727,801 (GRCm39)	N1520S	probably damaging	Het
Plcg2	G	A	8: 118,323,045 (GRCm39)	R700H	probably benign	Het
Popdc2	A	T	16: 38,183,173 (GRCm39)	Y52F	probably damaging	Het
Prrx1	T	A	1: 163,075,907 (GRCm39)	M220L	probably benign	Het
Pspc1	A	C	14: 56,996,085 (GRCm39)		probably null	Het
Ptchd1	T	A	X: 154,357,708 (GRCm39)	Y499F	probably damaging	Het
Ptpn20	A	G	14: 33,336,392 (GRCm39)	*44W	probably null	Het
Qars1	T	A	9: 108,391,976 (GRCm39)	V83E	probably damaging	Het
Rrh	T	C	3: 129,609,342 (GRCm39)	E55G	possibly damaging	Het
Sash1	C	A	10: 8,605,847 (GRCm39)	E848*	probably null	Het
Sds	A	T	5: 120,618,912 (GRCm39)	K125M	possibly damaging	Het
Serpinf2	A	T	11: 75,329,244 (GRCm39)		probably benign	Het
Sh2b2	G	A	5: 136,247,739 (GRCm39)	T604I	probably benign	Het
Smug1	A	G	15: 103,064,369 (GRCm39)	L184P	probably damaging	Het
Spatc1	A	G	15: 76,168,080 (GRCm39)	T180A	probably benign	Het
Ssr1	A	T	13: 38,178,001 (GRCm39)	L20Q	probably null	Het
Supt4a	A	G	11: 87,634,084 (GRCm39)	E100G	probably damaging	Het
Tbx1	G	T	16: 18,405,551 (GRCm39)	P38T	unknown	Het
Tcl1	T	C	12: 105,183,860 (GRCm39)		probably benign	Het
Teddm2	T	C	1: 153,726,320 (GRCm39)	I132V	probably benign	Het
Tmem131	C	T	1: 36,832,054 (GRCm39)	G1861E	possibly damaging	Het
Tpr	A	T	1: 150,299,358 (GRCm39)	H1186L	probably benign	Het
Trim34b	A	T	7: 103,978,743 (GRCm39)		probably benign	Het
Trpm2	T	C	10: 77,748,426 (GRCm39)	M1415V	probably benign	Het
Ttll12	A	G	15: 83,471,086 (GRCm39)	F264S	probably benign	Het
Vmn2r59	T	C	7: 41,695,644 (GRCm39)	E256G	probably benign	Het
Vmn2r93	A	T	17: 18,546,672 (GRCm39)	H848L	probably benign	Het
Vps35l	T	C	7: 118,372,315 (GRCm39)	S290P	probably damaging	Het
Wdr70	T	C	15: 7,913,855 (GRCm39)	D598G	possibly damaging	Het
Ybey	T	C	10: 76,304,197 (GRCm39)	S2G	possibly damaging	Het
Zfp346	A	T	13: 55,280,200 (GRCm39)	Q308L	probably benign	Het
Zfp872	C	T	9: 22,111,856 (GRCm39)	P445L	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
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'- GCAGGTCATCCAGATACCTG -3'
(R):5'- CCTCATTTATGAAATACAGCTCTGC -3'

Sequencing Primer
(F):5'- AGGTCATCCAGATACCTGTAGCTG -3'
(R):5'- AGCTCTGCAATATGCCCG -3'

Posted On

2019-05-13