Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01657:Atp2b3'

103071

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp2b3

Ensembl Gene

ENSMUSG00000031376

Gene Name

ATPase, Ca++ transporting, plasma membrane 3

Synonyms

6430519O13Rik, Pmca3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01657

Quality Score

Status

Chromosome

Chromosomal Location

72546692-72614611 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 72588966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110123 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033744] [ENSMUST00000088429] [ENSMUST00000114479]

AlphaFold

Q0VF55

Predicted Effect

probably benign
Transcript: ENSMUST00000033744

SMART Domains

Protein: ENSMUSP00000033744
Gene: ENSMUSG00000031376

Domain	Start	End	E-Value	Type
Cation_ATPase_N	50	126	1.39e-4	SMART
Pfam:E1-E2_ATPase	159	463	3.3e-58	PFAM
Pfam:Hydrolase	467	806	2.1e-27	PFAM
Pfam:HAD	470	803	2.4e-17	PFAM
Pfam:Hydrolase_like2	516	612	2.4e-17	PFAM
Pfam:Hydrolase_3	764	839	7.4e-7	PFAM
transmembrane domain	852	874	N/A	INTRINSIC
Pfam:Cation_ATPase_C	876	1058	2.4e-47	PFAM
low complexity region	1076	1096	N/A	INTRINSIC
Pfam:ATP_Ca_trans_C	1100	1115	1.7e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000088429

SMART Domains

Protein: ENSMUSP00000085775
Gene: ENSMUSG00000031376

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

Coding Region Coverage

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 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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	A	G	1: 25,865,574 (GRCm39)	F90L	probably benign	Het
Anapc4	T	A	5: 53,021,968 (GRCm39)	Y683*	probably null	Het
Astn2	T	G	4: 65,570,186 (GRCm39)	D773A	probably damaging	Het
Atp8b5	T	C	4: 43,291,693 (GRCm39)	M22T	probably benign	Het
Birc6	T	A	17: 74,967,606 (GRCm39)	L4169H	probably damaging	Het
Cdc42bpa	T	C	1: 179,939,431 (GRCm39)	V81A	probably benign	Het
Clcn2	A	T	16: 20,532,369 (GRCm39)	C80S	probably damaging	Het
Clu	C	T	14: 66,217,121 (GRCm39)	A318V	possibly damaging	Het
Csnk1g2	A	G	10: 80,475,463 (GRCm39)	H378R	probably benign	Het
Decr2	T	A	17: 26,301,926 (GRCm39)	D268V	probably damaging	Het
Dpp3	T	C	19: 4,968,332 (GRCm39)	T247A	possibly damaging	Het
Eif4g1	A	G	16: 20,500,966 (GRCm39)	N774D	possibly damaging	Het
Epha4	A	T	1: 77,403,475 (GRCm39)	V344E	probably damaging	Het
Epha6	A	C	16: 59,659,666 (GRCm39)	N817K	probably benign	Het
Ggcx	T	A	6: 72,406,941 (GRCm39)		probably null	Het
Gm1965	C	T	6: 89,123,648 (GRCm39)		noncoding transcript	Het
Gmnn	T	C	13: 24,937,687 (GRCm39)	E101G	probably damaging	Het
Grik2	C	T	10: 49,404,082 (GRCm39)		probably null	Het
H2-M11	T	A	17: 36,858,465 (GRCm39)	D86E	probably benign	Het
Il6st	T	A	13: 112,618,077 (GRCm39)	W164R	probably damaging	Het
Ilvbl	G	T	10: 78,412,602 (GRCm39)	V108L	possibly damaging	Het
Klk10	A	G	7: 43,431,013 (GRCm39)	K19E	possibly damaging	Het
Mbd4	G	T	6: 115,826,598 (GRCm39)	T131N	probably damaging	Het
Ncapd3	T	C	9: 26,983,120 (GRCm39)	V956A	possibly damaging	Het
Nif3l1	A	C	1: 58,494,771 (GRCm39)	T247P	probably damaging	Het
Nrcam	T	C	12: 44,606,583 (GRCm39)	V443A	probably damaging	Het
Or4c35	A	G	2: 89,808,221 (GRCm39)	Y33C	probably damaging	Het
Pigk	T	A	3: 152,428,157 (GRCm39)	H61Q	probably damaging	Het
Pla2g4d	C	A	2: 120,105,768 (GRCm39)	V431F	possibly damaging	Het
Pxt1	A	T	17: 29,153,778 (GRCm39)	H18Q	possibly damaging	Het
Rpusd4	T	C	9: 35,184,757 (GRCm39)		probably benign	Het
Slc22a18	T	G	7: 143,052,837 (GRCm39)	L354R	probably damaging	Het
Slc26a10	A	G	10: 127,010,903 (GRCm39)	V443A	probably damaging	Het
Smpx	A	G	X: 156,497,676 (GRCm39)		probably benign	Het
Sptan1	A	G	2: 29,908,491 (GRCm39)	S1751G	probably benign	Het
Ush2a	C	T	1: 188,558,658 (GRCm39)	T3629I	probably benign	Het
Vcan	C	T	13: 89,838,705 (GRCm39)	V2280M	probably damaging	Het
Vmn1r30	T	C	6: 58,412,619 (GRCm39)	E71G	probably benign	Het
Vmn2r100	A	T	17: 19,746,178 (GRCm39)	I446F	possibly damaging	Het
Vmn2r75	A	T	7: 85,813,455 (GRCm39)	V449D	probably damaging	Het

Other mutations in Atp2b3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4214:Atp2b3	UTSW	X	72,613,921 (GRCm39)	missense	probably benign	0.00
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

Posted On

2014-01-21