Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02640:Atp2b3'

301686

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 #

IGL02640

Quality Score

Status

Chromosome

Chromosomal Location

72546692-72614611 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72585811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 615 (S615G)

Ref Sequence

ENSEMBL: ENSMUSP00000110123 (fasta)

Gene Model

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

AlphaFold

Q0VF55

Predicted Effect

probably benign
Transcript: ENSMUST00000033744
AA Change: S615G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000033744
Gene: ENSMUSG00000031376
AA Change: S615G

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
AA Change: S615G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000085775
Gene: ENSMUSG00000031376
AA Change: S615G

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
AA Change: S615G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110123
Gene: ENSMUSG00000031376
AA Change: S615G

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh3	C	A	2: 93,826,706 (GRCm39)	R165L	possibly damaging	Het
Arap3	A	G	18: 38,120,855 (GRCm39)	V730A	possibly damaging	Het
Arcn1	A	C	9: 44,662,614 (GRCm39)	I344S	probably damaging	Het
Ascc3	A	C	10: 50,643,470 (GRCm39)	D1807A	possibly damaging	Het
Ccdc40	A	G	11: 119,128,904 (GRCm39)	N450S	probably benign	Het
Cep41	T	C	6: 30,658,867 (GRCm39)	E160G	probably benign	Het
Cxxc1	T	C	18: 74,354,254 (GRCm39)	L654P	probably damaging	Het
Dusp29	T	A	14: 21,753,123 (GRCm39)	T8S	probably damaging	Het
Gnb4	C	T	3: 32,645,374 (GRCm39)	A106T	probably benign	Het
Gosr1	T	C	11: 76,645,603 (GRCm39)	N59S	probably benign	Het
Itgav	A	G	2: 83,622,283 (GRCm39)	T622A	probably benign	Het
Lamc2	A	G	1: 153,027,803 (GRCm39)	I207T	probably damaging	Het
Lce1c	C	A	3: 92,587,845 (GRCm39)		probably benign	Het
Mcm3ap	G	T	10: 76,342,255 (GRCm39)	D1583Y	probably damaging	Het
Mphosph9	A	T	5: 124,453,563 (GRCm39)	F220I	possibly damaging	Het
Or14j2	A	G	17: 37,885,912 (GRCm39)	V134A	possibly damaging	Het
Or2ag16	A	T	7: 106,352,559 (GRCm39)	F12Y	probably damaging	Het
Plcb1	T	G	2: 135,062,779 (GRCm39)		probably benign	Het
Polr3c	G	A	3: 96,624,002 (GRCm39)	T312M	probably damaging	Het
Ppp4r3c2	T	C	X: 88,796,210 (GRCm39)	V14A	probably benign	Het
Ptpn12	G	T	5: 21,224,244 (GRCm39)	D116E	probably damaging	Het
Ptprb	A	G	10: 116,174,569 (GRCm39)	D747G	probably damaging	Het
Scn9a	A	G	2: 66,366,440 (GRCm39)		probably null	Het
Slit3	T	C	11: 35,591,172 (GRCm39)	V1328A	probably benign	Het
Sucla2	C	A	14: 73,819,246 (GRCm39)	S264Y	probably benign	Het
Tagln3	T	C	16: 45,544,596 (GRCm39)	D25G	probably benign	Het
Tbck	A	G	3: 132,480,247 (GRCm39)	T709A	probably benign	Het
Tead1	C	T	7: 112,460,663 (GRCm39)	A189V	probably benign	Het
Tmem234	A	G	4: 129,494,896 (GRCm39)	Q46R	probably damaging	Het
Trpm1	T	A	7: 63,868,881 (GRCm39)	L395Q	probably damaging	Het
Tti2	T	A	8: 31,645,942 (GRCm39)	W419R	probably damaging	Het
Vmn2r3	A	T	3: 64,194,816 (GRCm39)	M34K	probably benign	Het
Vps13c	G	T	9: 67,793,530 (GRCm39)		probably benign	Het
Zfp521	A	T	18: 13,977,987 (GRCm39)	Y809N	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
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

2015-04-16