Mutagenetix > Incidental Mutation

Incidental Mutation 'R1571:Atp2b3'

186241

Institutional Source

Beutler Lab

Gene Symbol

Atp2b3

Ensembl Gene

ENSMUSG00000031376

Gene Name

ATPase, Ca++ transporting, plasma membrane 3

Synonyms

6430519O13Rik, Pmca3

MMRRC Submission

039610-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1571 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

72546692-72614611 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 72588712 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 701 (V701G)

Ref Sequence

ENSEMBL: ENSMUSP00000110123 (fasta)

Gene Model

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

AlphaFold

Q0VF55

Predicted Effect

probably damaging
Transcript: ENSMUST00000033744
AA Change: V701G

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

SMART Domains

Protein: ENSMUSP00000033744
Gene: ENSMUSG00000031376
AA Change: V701G

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 damaging
Transcript: ENSMUST00000088429
AA Change: V701G

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

SMART Domains

Protein: ENSMUSP00000085775
Gene: ENSMUSG00000031376
AA Change: V701G

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 damaging
Transcript: ENSMUST00000114479
AA Change: V701G

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

SMART Domains

Protein: ENSMUSP00000110123
Gene: ENSMUSG00000031376
AA Change: V701G

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

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610524H06Rik	A	G	5: 114,961,372 (GRCm39)		probably null	Het
Abcd3	T	C	3: 121,586,491 (GRCm39)	I70V	possibly damaging	Het
Acad10	T	C	5: 121,759,411 (GRCm39)	Y1024C	probably damaging	Het
Cbfa2t2	T	A	2: 154,342,347 (GRCm39)	M21K	probably damaging	Het
Cdc25a	C	T	9: 109,710,614 (GRCm39)	T106I	possibly damaging	Het
Cdhr5	T	C	7: 140,852,083 (GRCm39)	T190A	probably damaging	Het
Chl1	A	G	6: 103,685,445 (GRCm39)	T829A	probably benign	Het
Clcn6	T	C	4: 148,097,226 (GRCm39)	T614A	possibly damaging	Het
Cntln	A	T	4: 84,865,823 (GRCm39)	R160*	probably null	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dock3	C	A	9: 106,815,158 (GRCm39)	M1236I	possibly damaging	Het
Eif4g3	T	A	4: 137,847,719 (GRCm39)	H213Q	probably damaging	Het
Eya1	T	A	1: 14,279,141 (GRCm39)	H372L	probably damaging	Het
Fam13b	A	G	18: 34,630,485 (GRCm39)	V91A	possibly damaging	Het
Hat1	T	A	2: 71,264,519 (GRCm39)	I319K	probably benign	Het
Kcnf1	T	C	12: 17,225,853 (GRCm39)	N123D	probably benign	Het
Kcns3	C	A	12: 11,141,551 (GRCm39)	G383W	probably damaging	Het
Kprp	A	T	3: 92,732,689 (GRCm39)	C120*	probably null	Het
Lama3	T	A	18: 12,672,774 (GRCm39)	C2456S	probably damaging	Het
Lrp1b	A	T	2: 41,366,658 (GRCm39)	D539E	probably damaging	Het
Matn3	T	C	12: 9,005,466 (GRCm39)	L292S	probably damaging	Het
Mbd3l1	T	A	9: 18,395,947 (GRCm39)	I24N	probably damaging	Het
Med10	T	C	13: 69,958,159 (GRCm39)	L37P	probably damaging	Het
Mrc1	A	T	2: 14,313,544 (GRCm39)	H925L	probably damaging	Het
Myo15a	T	A	11: 60,409,290 (GRCm39)	I3219N	probably damaging	Het
Nom1	C	T	5: 29,647,633 (GRCm39)	Q623*	probably null	Het
Nrm	T	A	17: 36,175,079 (GRCm39)	W136R	probably damaging	Het
Or8h8	A	C	2: 86,753,789 (GRCm39)	V29G	probably benign	Het
Pde7b	T	C	10: 20,288,836 (GRCm39)	N298S	probably benign	Het
Piezo2	C	T	18: 63,277,990 (GRCm39)	A305T	possibly damaging	Het
Pimreg	T	C	11: 71,936,042 (GRCm39)	L175P	possibly damaging	Het
Pkhd1l1	A	G	15: 44,390,237 (GRCm39)	D1451G	probably benign	Het
Ptpro	A	G	6: 137,355,128 (GRCm39)	S212G	probably benign	Het
Rhpn1	C	T	15: 75,585,967 (GRCm39)	R627C	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnase4	T	G	14: 51,342,497 (GRCm39)	F74V	probably damaging	Het
Sbno2	A	G	10: 79,896,226 (GRCm39)		probably null	Het
Selp	T	C	1: 163,954,176 (GRCm39)	Y159H	probably damaging	Het
Senp6	A	G	9: 80,000,853 (GRCm39)	T21A	probably damaging	Het
Slco1a7	A	T	6: 141,700,135 (GRCm39)	C132*	probably null	Het
Slco3a1	T	C	7: 74,154,128 (GRCm39)	D148G	possibly damaging	Het
Smtn	G	A	11: 3,480,102 (GRCm39)	P373L	probably benign	Het
Snx20	A	T	8: 89,356,597 (GRCm39)	L73Q	probably damaging	Het
Sobp	A	G	10: 43,033,942 (GRCm39)	V128A	possibly damaging	Het
Tcerg1	A	G	18: 42,657,357 (GRCm39)	T280A	unknown	Het
Tgfbrap1	A	G	1: 43,088,973 (GRCm39)	V810A	probably benign	Het
Thbs1	C	A	2: 117,949,678 (GRCm39)	D589E	probably damaging	Het
Tjp2	A	G	19: 24,078,239 (GRCm39)	Y885H	probably damaging	Het
Tmem109	A	G	19: 10,849,993 (GRCm39)	S100P	probably damaging	Het
Trim36	T	C	18: 46,305,562 (GRCm39)	K462E	probably benign	Het
Vmn1r226	A	T	17: 20,908,538 (GRCm39)	I257F	probably damaging	Het
Vmn2r92	A	G	17: 18,372,352 (GRCm39)	Y54C	probably damaging	Het
Wdcp	T	A	12: 4,901,924 (GRCm39)	Y593*	probably null	Het
Wdr59	T	C	8: 112,177,682 (GRCm39)	S907G	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CCTGAACTGGAACCATAGGGTTCAC -3'
(R):5'- TGCAGGGATGCCAGATATAGCCAC -3'

Sequencing Primer
(F):5'- GAACCATAGGGTTCACTGTACTG -3'
(R):5'- GCCAGATATAGCCACATGTTG -3'

Posted On

2014-05-09