Mutagenetix > Incidental Mutation

Incidental Mutation 'R4214:Atp2b3'

319375

Institutional Source

Beutler Lab

Gene Symbol

Atp2b3

Ensembl Gene

ENSMUSG00000031376

Gene Name

ATPase, Ca++ transporting, plasma membrane 3

Synonyms

6430519O13Rik, Pmca3

MMRRC Submission

041041-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4214 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

72546692-72614611 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72613921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1142 (M1142V)

Ref Sequence

ENSEMBL: ENSMUSP00000085775 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088429] [ENSMUST00000114479]

AlphaFold

Q0VF55

Predicted Effect

probably benign
Transcript: ENSMUST00000088429
AA Change: M1142V

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

SMART Domains

Protein: ENSMUSP00000085775
Gene: ENSMUSG00000031376
AA Change: M1142V

Domain	Start	End	E-Value	Type
Cation_ATPase_N	50	126	1.39e-4	SMART
Pfam:E1-E2_ATPase	158	310	1.8e-29	PFAM
Pfam:E1-E2_ATPase	348	462	3e-13	PFAM
Pfam:Hydrolase	467	806	1.3e-16	PFAM
Pfam:HAD	470	803	3.8e-21	PFAM
Pfam:Cation_ATPase	516	612	7.9e-18	PFAM
Pfam:Hydrolase_3	764	839	5.4e-7	PFAM
transmembrane domain	852	874	N/A	INTRINSIC
Pfam:Cation_ATPase_C	876	1058	1.5e-48	PFAM
low complexity region	1076	1096	N/A	INTRINSIC
Pfam:ATP_Ca_trans_C	1100	1152	4.1e-27	PFAM
low complexity region	1174	1184	N/A	INTRINSIC
low complexity region	1193	1207	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114479

SMART Domains

Protein: ENSMUSP00000110123
Gene: ENSMUSG00000031376

Domain	Start	End	E-Value	Type
Cation_ATPase_N	50	126	1.39e-4	SMART
Pfam:E1-E2_ATPase	159	463	4.1e-58	PFAM
Pfam:Hydrolase	467	806	4.9e-27	PFAM
Pfam:HAD	470	803	4.7e-17	PFAM
Pfam:Hydrolase_like2	516	612	1.8e-17	PFAM
Pfam:Hydrolase_3	764	839	2.1e-6	PFAM
transmembrane domain	852	874	N/A	INTRINSIC
Pfam:Cation_ATPase_C	876	1058	2.3e-47	PFAM
low complexity region	1076	1096	N/A	INTRINSIC
Pfam:ATP_Ca_trans_C	1100	1163	2.4e-15	PFAM

Meta Mutation Damage Score

0.7210

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 95.5%

Validation Efficiency

98% (64/65)

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 3. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730013G03Rik	C	T	1: 192,515,845 (GRCm39)		noncoding transcript	Het
Abca12	T	A	1: 71,327,856 (GRCm39)	D1408V	probably damaging	Het
Abca13	A	T	11: 9,243,877 (GRCm39)	L1913F	probably damaging	Het
Acad9	A	G	3: 36,127,752 (GRCm39)	E118G	probably damaging	Het
Adamts5	G	A	16: 85,665,531 (GRCm39)	A590V	probably damaging	Het
Ano6	A	C	15: 95,863,790 (GRCm39)	Y791S	probably benign	Het
Aox1	T	C	1: 58,346,603 (GRCm39)		probably null	Het
Aox4	T	A	1: 58,261,051 (GRCm39)	I128N	probably damaging	Het
AU041133	A	G	10: 81,987,223 (GRCm39)	H292R	probably damaging	Het
Bco2	A	G	9: 50,456,666 (GRCm39)	M158T	probably benign	Het
Bpnt1	T	A	1: 185,077,626 (GRCm39)		probably benign	Het
Cadm1	A	G	9: 47,708,741 (GRCm39)	D157G	probably damaging	Het
Catsperg1	T	C	7: 28,895,357 (GRCm39)	R499G	possibly damaging	Het
Ccr7	T	C	11: 99,035,872 (GRCm39)	E350G	probably damaging	Het
Ceacam5	T	A	7: 17,486,076 (GRCm39)	S524R	probably benign	Het
Cep78	T	C	19: 15,936,943 (GRCm39)	T588A	probably benign	Het
Cfap65	T	A	1: 74,966,840 (GRCm39)	E282D	possibly damaging	Het
Drd2	A	G	9: 49,316,221 (GRCm39)	K327R	probably benign	Het
Erich5	C	T	15: 34,471,557 (GRCm39)	P262L	possibly damaging	Het
Ezh2	A	C	6: 47,510,748 (GRCm39)	D578E	probably damaging	Het
Fez1	A	G	9: 36,781,784 (GRCm39)	N20S	probably damaging	Het
Folr2	T	G	7: 101,492,906 (GRCm39)	K39T	probably damaging	Het
Gm10549	G	T	18: 33,597,530 (GRCm39)		probably null	Het
Gm14393	C	T	2: 174,903,640 (GRCm39)	C89Y	probably benign	Het
Gm5329	T	G	7: 31,671,828 (GRCm39)		noncoding transcript	Het
Gm7367	A	G	7: 59,805,517 (GRCm39)		noncoding transcript	Het
Gpr162	A	T	6: 124,837,031 (GRCm39)	W338R	probably damaging	Het
Ift80	A	T	3: 68,898,141 (GRCm39)	F65I	possibly damaging	Het
Klra6	T	G	6: 129,995,885 (GRCm39)	I158L	probably benign	Het
Lpp	T	A	16: 24,580,804 (GRCm39)	Y173*	probably null	Het
Lrp12	A	G	15: 39,735,976 (GRCm39)	V671A	probably benign	Het
Lrrc27	C	T	7: 138,803,609 (GRCm39)	R178C	probably damaging	Het
Lrrc49	G	A	9: 60,573,609 (GRCm39)	T225M	probably benign	Het
Megf8	T	A	7: 25,054,793 (GRCm39)	S1915T	probably benign	Het
Mmadhc	T	C	2: 50,181,344 (GRCm39)	T109A	probably benign	Het
Mon2	T	C	10: 122,852,397 (GRCm39)	E992G	probably benign	Het
Msl3	A	G	X: 167,450,059 (GRCm39)	I267T	probably damaging	Het
Msl3	A	T	X: 167,445,430 (GRCm39)	N430K	probably damaging	Het
Nab2	G	T	10: 127,500,917 (GRCm39)	Y25*	probably null	Het
Notch3	T	C	17: 32,351,181 (GRCm39)	E1938G	possibly damaging	Het
Or5ae2	C	T	7: 84,506,497 (GRCm39)	H307Y	probably benign	Het
Osgepl1	A	G	1: 53,354,167 (GRCm39)	T44A	probably damaging	Het
Pdpr	A	G	8: 111,856,212 (GRCm39)		probably benign	Het
Pfkp	A	G	13: 6,669,261 (GRCm39)	S241P	probably damaging	Het
Phgdh	A	T	3: 98,235,377 (GRCm39)	S166T	possibly damaging	Het
Plcl1	C	T	1: 55,790,494 (GRCm39)	Q1055*	probably null	Het
Plscr2	A	G	9: 92,169,790 (GRCm39)	N80S	probably benign	Het
Polr3k	A	T	2: 181,510,035 (GRCm39)	M80L	probably benign	Het
Prex2	A	G	1: 11,171,383 (GRCm39)	D304G	probably damaging	Het
Prex2	A	G	1: 11,355,285 (GRCm39)	T1529A	probably damaging	Het
Rcvrn	A	T	11: 67,586,514 (GRCm39)	H91L	possibly damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Tbx18	T	C	9: 87,606,518 (GRCm39)	Y209C	probably damaging	Het
Themis3	T	C	17: 66,867,012 (GRCm39)	N76S	probably benign	Het
Trhde	A	T	10: 114,623,975 (GRCm39)	S310T	possibly damaging	Het
Vmn1r213	G	A	13: 23,196,173 (GRCm39)	C252Y	possibly damaging	Het
Zfp523	T	C	17: 28,420,003 (GRCm39)	V216A	probably benign	Het

Other mutations in Atp2b3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01657:Atp2b3	APN	X	72,588,966 (GRCm39)	splice site	probably benign
IGL02640:Atp2b3	APN	X	72,585,811 (GRCm39)	missense	probably benign
R1518:Atp2b3	UTSW	X	72,588,729 (GRCm39)	small deletion	probably benign
R1571:Atp2b3	UTSW	X	72,588,712 (GRCm39)	missense	probably damaging	1.00
R2920:Atp2b3	UTSW	X	72,577,526 (GRCm39)	missense	probably benign	0.21
X0004:Atp2b3	UTSW	X	72,579,100 (GRCm39)	missense	probably damaging	0.99
Z1176:Atp2b3	UTSW	X	72,579,030 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TGTGGGCACAACTTTCCAG -3'
(R):5'- GCTGAAGAGGTAGCTGACTTG -3'

Sequencing Primer
(F):5'- ACCAGCTAGCCATTGACTGTC -3'
(R):5'- AGCTGACTTGGTGGCATGC -3'

Posted On

2015-06-10