Mutagenetix > Incidental Mutation

Incidental Mutation 'R4795:Atp2a3'

368961

Institutional Source

Beutler Lab

Gene Symbol

Atp2a3

Ensembl Gene

ENSMUSG00000020788

Gene Name

ATPase, Ca++ transporting, ubiquitous

Synonyms

Serca3

MMRRC Submission

041996-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R4795 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72851995-72883869 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72863855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 194 (I194V)

Ref Sequence

ENSEMBL: ENSMUSP00000127036 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021142] [ENSMUST00000108484] [ENSMUST00000108485] [ENSMUST00000108486] [ENSMUST00000163326]

AlphaFold

Q64518

Predicted Effect

probably benign
Transcript: ENSMUST00000021142
AA Change: I194V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000021142
Gene: ENSMUSG00000020788
AA Change: I194V

Domain	Start	End	E-Value	Type
Cation_ATPase_N	3	77	4.43e-12	SMART
Pfam:E1-E2_ATPase	92	340	3.1e-66	PFAM
Pfam:Hydrolase	345	715	5.2e-22	PFAM
Pfam:HAD	348	712	3e-19	PFAM
Pfam:Cation_ATPase	418	528	4.4e-23	PFAM
Pfam:Hydrolase_3	684	747	4.5e-8	PFAM
Pfam:Cation_ATPase_C	784	987	1.8e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108484
AA Change: I194V

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

SMART Domains

Protein: ENSMUSP00000104124
Gene: ENSMUSG00000020788
AA Change: I194V

Domain	Start	End	E-Value	Type
Cation_ATPase_N	3	77	3.4e-16	SMART
Pfam:E1-E2_ATPase	93	341	8.9e-67	PFAM
Pfam:Hydrolase	345	697	8.1e-27	PFAM
Pfam:HAD	348	694	4.1e-14	PFAM
Pfam:Hydrolase_like2	418	528	2.1e-21	PFAM
Pfam:Hydrolase_3	666	729	2.6e-6	PFAM
transmembrane domain	742	764	N/A	INTRINSIC
Pfam:Cation_ATPase_C	766	969	4.2e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108485
AA Change: I194V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000104125
Gene: ENSMUSG00000020788
AA Change: I194V

Domain	Start	End	E-Value	Type
Cation_ATPase_N	3	77	4.43e-12	SMART
Pfam:E1-E2_ATPase	93	341	1.1e-68	PFAM
Pfam:Hydrolase	345	715	2.7e-33	PFAM
Pfam:HAD	348	712	1.3e-17	PFAM
Pfam:Hydrolase_like2	418	528	2.2e-23	PFAM
Pfam:Hydrolase_3	684	747	1.8e-8	PFAM
Pfam:Cation_ATPase_C	784	987	2.6e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108486
AA Change: I194V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000104126
Gene: ENSMUSG00000020788
AA Change: I194V

Domain	Start	End	E-Value	Type
Cation_ATPase_N	3	77	4.43e-12	SMART
Pfam:E1-E2_ATPase	93	341	1.4e-68	PFAM
Pfam:Hydrolase	345	697	2.8e-28	PFAM
Pfam:HAD	348	694	1.1e-15	PFAM
Pfam:Hydrolase_like2	418	528	1.7e-23	PFAM
Pfam:Hydrolase_3	666	729	5.1e-8	PFAM
Pfam:Cation_ATPase_C	766	969	2.5e-48	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149493

Predicted Effect

probably benign
Transcript: ENSMUST00000163326
AA Change: I194V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000127036
Gene: ENSMUSG00000020788
AA Change: I194V

Domain	Start	End	E-Value	Type
Cation_ATPase_N	3	77	4.43e-12	SMART
Pfam:E1-E2_ATPase	93	341	1.4e-68	PFAM
Pfam:Hydrolase	345	715	6.5e-33	PFAM
Pfam:HAD	348	712	2.5e-17	PFAM
Pfam:Hydrolase_like2	418	528	1.7e-23	PFAM
Pfam:Hydrolase_3	684	747	5.1e-8	PFAM
Pfam:Cation_ATPase_C	784	987	2.5e-48	PFAM

Meta Mutation Damage Score

0.0620

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

98% (123/125)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in calcium sequestration associated with muscular excitation and contraction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in reduced endothelial-dependent relaxation in the aorta. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	G	3: 121,969,772 (GRCm39)	L2259R	probably damaging	Het
Acd	A	G	8: 106,427,647 (GRCm39)	S2P	possibly damaging	Het
Acsf3	A	G	8: 123,506,896 (GRCm39)	Y63C	possibly damaging	Het
Adam21	T	C	12: 81,607,748 (GRCm39)	I5V	probably benign	Het
Adamts6	C	A	13: 104,580,636 (GRCm39)	S783*	probably null	Het
Adamtsl1	T	C	4: 86,162,006 (GRCm39)		probably null	Het
Adck2	T	A	6: 39,553,327 (GRCm39)	S313T	probably benign	Het
Adgb	A	G	10: 10,233,616 (GRCm39)	I1285T	probably benign	Het
Angptl1	T	A	1: 156,688,153 (GRCm39)	M485K	possibly damaging	Het
Ank3	G	A	10: 69,694,095 (GRCm39)	V289I	probably benign	Het
Atp13a4	A	G	16: 29,308,826 (GRCm39)		probably null	Het
Atp1a1	A	G	3: 101,491,091 (GRCm39)	L648P	probably benign	Het
Bglap	A	C	3: 88,291,712 (GRCm39)	I4S	unknown	Het
Cacna1b	T	A	2: 24,527,499 (GRCm39)	T1621S	possibly damaging	Het
Ccdc112	T	A	18: 46,420,739 (GRCm39)	Q337L	probably benign	Het
Ccdc121rt3	A	G	5: 112,503,165 (GRCm39)	S180P	possibly damaging	Het
Cd34	T	G	1: 194,633,319 (GRCm39)	S194A	probably damaging	Het
Cdh20	A	G	1: 104,868,989 (GRCm39)	D160G	probably damaging	Het
Clock	T	C	5: 76,413,763 (GRCm39)	K44R	probably damaging	Het
Commd9	A	G	2: 101,729,241 (GRCm39)	N116D	probably benign	Het
Dab2	C	A	15: 6,459,092 (GRCm39)	P335T	probably benign	Het
Epb41l3	T	A	17: 69,555,714 (GRCm39)		probably null	Het
Epha2	A	G	4: 141,049,727 (GRCm39)		probably null	Het
Fam78b	T	C	1: 166,906,216 (GRCm39)	V125A	probably benign	Het
Fars2	A	T	13: 36,721,400 (GRCm39)	E448V	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Glyr1	A	C	16: 4,865,622 (GRCm39)	V44G	probably benign	Het
Gm1527	A	G	3: 28,974,812 (GRCm39)	I542V	possibly damaging	Het
Gm18856	C	A	13: 14,139,793 (GRCm39)		probably benign	Het
Gm44501	A	G	17: 40,889,605 (GRCm39)	K40E	probably benign	Het
Hdhd5	T	C	6: 120,500,407 (GRCm39)	H97R	probably benign	Het
Hmcn1	A	G	1: 150,629,362 (GRCm39)	V965A	probably benign	Het
Hsf5	A	G	11: 87,526,446 (GRCm39)	M373V	probably benign	Het
Igbp1b	C	T	6: 138,634,803 (GRCm39)	E214K	probably benign	Het
Iigp1	T	A	18: 60,522,964 (GRCm39)	F27L	probably benign	Het
Isl1	T	C	13: 116,441,966 (GRCm39)	N89S	probably benign	Het
Itga1	C	A	13: 115,171,921 (GRCm39)	W61C	probably damaging	Het
Itga5	T	C	15: 103,256,187 (GRCm39)	R922G	probably benign	Het
Kbtbd3	G	A	9: 4,331,073 (GRCm39)	W482*	probably null	Het
Kcnq1	A	G	7: 142,736,494 (GRCm39)	T168A	probably benign	Het
Lrch3	A	G	16: 32,826,074 (GRCm39)	N631S	probably damaging	Het
Lrrk1	T	A	7: 65,912,413 (GRCm39)	I1716F	possibly damaging	Het
Ly75	T	C	2: 60,180,284 (GRCm39)	E631G	probably benign	Het
Map4	T	C	9: 109,864,331 (GRCm39)	S519P	probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Mrtfa	C	T	15: 80,901,234 (GRCm39)	S419N	probably damaging	Het
Muc5b	A	G	7: 141,403,304 (GRCm39)	E755G	unknown	Het
Ncaph2	T	G	15: 89,255,010 (GRCm39)	V478G	probably damaging	Het
Ncbp1	A	G	4: 46,152,967 (GRCm39)	R247G	possibly damaging	Het
Necab1	G	T	4: 15,111,208 (GRCm39)	D73E	possibly damaging	Het
Nedd9	T	C	13: 41,471,376 (GRCm39)	K208E	probably benign	Het
Nfyb	A	T	10: 82,588,202 (GRCm39)		probably benign	Het
Nol4	T	C	18: 23,054,944 (GRCm39)	Q162R	probably damaging	Het
Nwd2	G	A	5: 63,962,776 (GRCm39)	D787N	probably benign	Het
Olfr908	T	A	9: 38,427,799 (GRCm39)	M157K	probably damaging	Het
Or10a5	A	T	7: 106,636,121 (GRCm39)	Y253F	probably benign	Het
Or11g7	A	C	14: 50,690,874 (GRCm39)	M122L	probably damaging	Het
Or13a22	A	G	7: 140,072,920 (GRCm39)	D123G	probably damaging	Het
Or5ac23	C	T	16: 59,149,213 (GRCm39)	V220I	probably benign	Het
Or6a2	C	T	7: 106,600,542 (GRCm39)	G175D	probably damaging	Het
Or6e1	A	G	14: 54,520,004 (GRCm39)	M116T	probably damaging	Het
Orai3	T	C	7: 127,373,060 (GRCm39)	V187A	probably benign	Het
Parn	T	C	16: 13,424,066 (GRCm39)	T444A	probably benign	Het
Pcdh11x	A	C	X: 119,309,937 (GRCm39)	N460T	probably damaging	Het
Pcnt	C	T	10: 76,205,858 (GRCm39)	R2516H	probably benign	Het
Pde4d	T	A	13: 110,074,705 (GRCm39)		probably benign	Het
Pdgfra	A	G	5: 75,349,972 (GRCm39)	N952S	probably benign	Het
Pgm2	A	G	5: 64,261,217 (GRCm39)	Y237C	probably damaging	Het
Plcb2	A	G	2: 118,541,605 (GRCm39)	V975A	probably benign	Het
Polk	T	C	13: 96,625,764 (GRCm39)	T347A	probably benign	Het
Ppp6r1	C	T	7: 4,644,053 (GRCm39)	V430M	possibly damaging	Het
Ptges2	C	A	2: 32,286,334 (GRCm39)	C16*	probably null	Het
Relb	A	T	7: 19,353,764 (GRCm39)	I38N	probably damaging	Het
Runx1t1	T	A	4: 13,837,767 (GRCm39)	N51K	probably damaging	Het
Samsn1	A	G	16: 75,680,733 (GRCm39)		probably benign	Het
Scrn1	A	G	6: 54,497,754 (GRCm39)	V279A	possibly damaging	Het
Sec31b	A	G	19: 44,520,185 (GRCm39)	S200P	probably benign	Het
Selp	A	G	1: 163,972,475 (GRCm39)	T705A	probably benign	Het
Slc2a1	G	A	4: 118,989,642 (GRCm39)	R61Q	probably damaging	Het
Slit3	G	A	11: 35,542,647 (GRCm39)		probably null	Het
Smo	T	A	6: 29,755,573 (GRCm39)	V415E	probably damaging	Het
Spag8	C	A	4: 43,652,035 (GRCm39)	V350L	possibly damaging	Het
Tbck	T	G	3: 132,413,559 (GRCm39)	L132R	possibly damaging	Het
Thnsl1	T	A	2: 21,216,856 (GRCm39)	C203*	probably null	Het
Tm9sf2	T	A	14: 122,387,252 (GRCm39)		probably null	Het
Tmem131	A	G	1: 36,880,757 (GRCm39)	V171A	probably damaging	Het
Tmem209	T	C	6: 30,501,954 (GRCm39)	T83A	probably benign	Het
Tmem63a	T	C	1: 180,782,416 (GRCm39)	Y138H	probably damaging	Het
Trim80	A	G	11: 115,338,769 (GRCm39)	Y533C	probably damaging	Het
Trpv2	A	G	11: 62,472,006 (GRCm39)	D66G	possibly damaging	Het
Trrap	T	A	5: 144,769,298 (GRCm39)	I2620N	probably benign	Het
Ttyh3	A	T	5: 140,620,541 (GRCm39)	I232N	probably damaging	Het
Ube2dnl1	G	A	X: 113,815,482 (GRCm39)	C119Y	possibly damaging	Het
Unc13c	T	A	9: 73,839,469 (GRCm39)	S461C	probably damaging	Het
Unc80	T	G	1: 66,567,100 (GRCm39)	I902S	probably damaging	Het
Usp42	C	A	5: 143,709,692 (GRCm39)	G170W	probably damaging	Het
Vldlr	T	C	19: 27,216,252 (GRCm39)		probably null	Het
Ywhab	A	G	2: 163,857,265 (GRCm39)	Y180C	probably damaging	Het
Zan	A	T	5: 137,379,112 (GRCm39)	C5329*	probably null	Het
Zbtb40	C	T	4: 136,725,953 (GRCm39)	M535I	probably benign	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zfp318	A	G	17: 46,722,988 (GRCm39)	T1664A	probably benign	Het
Zfp7	T	A	15: 76,775,546 (GRCm39)	C529*	probably null	Het
Zfp768	T	C	7: 126,942,547 (GRCm39)	Q527R	possibly damaging	Het
Zfp975	T	A	7: 42,314,570 (GRCm39)		probably null	Het

Other mutations in Atp2a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Atp2a3	APN	11	72,873,613 (GRCm39)	missense	probably damaging	0.98
IGL01141:Atp2a3	APN	11	72,873,491 (GRCm39)	missense	probably damaging	1.00
IGL01949:Atp2a3	APN	11	72,872,723 (GRCm39)	missense	probably damaging	1.00
IGL02267:Atp2a3	APN	11	72,878,810 (GRCm39)	missense	probably damaging	1.00
IGL02385:Atp2a3	APN	11	72,866,165 (GRCm39)	missense	probably benign	0.00
IGL02390:Atp2a3	APN	11	72,866,165 (GRCm39)	missense	probably benign	0.00
IGL02391:Atp2a3	APN	11	72,866,165 (GRCm39)	missense	probably benign	0.00
IGL02392:Atp2a3	APN	11	72,866,165 (GRCm39)	missense	probably benign	0.00
IGL02487:Atp2a3	APN	11	72,866,165 (GRCm39)	missense	probably benign	0.00
IGL02525:Atp2a3	APN	11	72,866,165 (GRCm39)	missense	probably benign	0.00
IGL02526:Atp2a3	APN	11	72,866,165 (GRCm39)	missense	probably benign	0.00
IGL02527:Atp2a3	APN	11	72,866,165 (GRCm39)	missense	probably benign	0.00
IGL02581:Atp2a3	APN	11	72,866,165 (GRCm39)	missense	probably benign	0.00
IGL02643:Atp2a3	APN	11	72,866,165 (GRCm39)	missense	probably benign	0.00
IGL02644:Atp2a3	APN	11	72,866,165 (GRCm39)	missense	probably benign	0.00
IGL02646:Atp2a3	APN	11	72,866,165 (GRCm39)	missense	probably benign	0.00
IGL02647:Atp2a3	APN	11	72,866,165 (GRCm39)	missense	probably benign	0.00
IGL02649:Atp2a3	APN	11	72,866,165 (GRCm39)	missense	probably benign	0.00
IGL02650:Atp2a3	APN	11	72,866,165 (GRCm39)	missense	probably benign	0.00
IGL02651:Atp2a3	APN	11	72,866,165 (GRCm39)	missense	probably benign	0.00
IGL02667:Atp2a3	APN	11	72,866,165 (GRCm39)	missense	probably benign	0.00
IGL02668:Atp2a3	APN	11	72,866,165 (GRCm39)	missense	probably benign	0.00
IGL02819:Atp2a3	APN	11	72,868,033 (GRCm39)	missense	probably damaging	1.00
IGL02888:Atp2a3	APN	11	72,867,954 (GRCm39)	splice site	probably benign
Aplomb	UTSW	11	72,871,274 (GRCm39)	missense	probably damaging	1.00
flair	UTSW	11	72,866,223 (GRCm39)	missense	probably damaging	1.00
panache	UTSW	11	72,872,765 (GRCm39)	missense	probably damaging	1.00
R0193:Atp2a3	UTSW	11	72,863,046 (GRCm39)	missense	possibly damaging	0.57
R0357:Atp2a3	UTSW	11	72,861,757 (GRCm39)	critical splice donor site	probably null
R0376:Atp2a3	UTSW	11	72,873,528 (GRCm39)	missense	probably damaging	1.00
R0452:Atp2a3	UTSW	11	72,868,058 (GRCm39)	splice site	probably null
R0494:Atp2a3	UTSW	11	72,872,731 (GRCm39)	missense	probably damaging	1.00
R0588:Atp2a3	UTSW	11	72,863,850 (GRCm39)	missense	possibly damaging	0.79
R0674:Atp2a3	UTSW	11	72,872,711 (GRCm39)	missense	probably damaging	1.00
R1586:Atp2a3	UTSW	11	72,882,570 (GRCm39)	missense	probably damaging	0.98
R1666:Atp2a3	UTSW	11	72,869,633 (GRCm39)	critical splice donor site	probably null
R1994:Atp2a3	UTSW	11	72,866,240 (GRCm39)	missense	probably damaging	0.99
R2087:Atp2a3	UTSW	11	72,871,274 (GRCm39)	missense	probably damaging	1.00
R4675:Atp2a3	UTSW	11	72,872,623 (GRCm39)	missense	probably damaging	1.00
R4898:Atp2a3	UTSW	11	72,873,506 (GRCm39)	missense	probably damaging	1.00
R5083:Atp2a3	UTSW	11	72,873,652 (GRCm39)	missense	probably null	0.49
R5174:Atp2a3	UTSW	11	72,871,041 (GRCm39)	missense	probably damaging	1.00
R5266:Atp2a3	UTSW	11	72,866,223 (GRCm39)	missense	probably damaging	1.00
R5304:Atp2a3	UTSW	11	72,879,383 (GRCm39)	missense	probably damaging	0.98
R5802:Atp2a3	UTSW	11	72,863,708 (GRCm39)	missense	probably damaging	1.00
R6107:Atp2a3	UTSW	11	72,879,287 (GRCm39)	critical splice acceptor site	probably null
R6157:Atp2a3	UTSW	11	72,871,442 (GRCm39)	missense	probably damaging	1.00
R6760:Atp2a3	UTSW	11	72,873,566 (GRCm39)	missense	probably damaging	1.00
R7406:Atp2a3	UTSW	11	72,869,576 (GRCm39)	missense	probably damaging	1.00
R8818:Atp2a3	UTSW	11	72,872,765 (GRCm39)	missense	probably damaging	1.00
R9376:Atp2a3	UTSW	11	72,863,290 (GRCm39)	missense	probably damaging	1.00
R9456:Atp2a3	UTSW	11	72,871,131 (GRCm39)	missense	probably benign	0.07
R9562:Atp2a3	UTSW	11	72,873,578 (GRCm39)	missense	probably damaging	1.00
R9608:Atp2a3	UTSW	11	72,879,866 (GRCm39)	missense	probably benign	0.40
Z1176:Atp2a3	UTSW	11	72,880,366 (GRCm39)	missense	probably benign
Z1176:Atp2a3	UTSW	11	72,871,448 (GRCm39)	missense	possibly damaging	0.96
Z1177:Atp2a3	UTSW	11	72,871,153 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- ATCAAGTCCACCACACTTCG -3'
(R):5'- CGAGTGGGGTTGACCAGAG -3'

Sequencing Primer
(F):5'- CACTTCGAGTGGACCAGTC -3'
(R):5'- TGCATATGCCACCATGTGAG -3'

Posted On

2016-02-04