Mutagenetix > Incidental Mutation

Incidental Mutation 'R4675:Atp2a3'

349515

Institutional Source

Beutler Lab

Gene Symbol

Atp2a3

Ensembl Gene

ENSMUSG00000020788

Gene Name

ATPase, Ca++ transporting, ubiquitous

Synonyms

Serca3

MMRRC Submission

041930-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R4675 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72851995-72883869 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72872623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 724 (T724S)

Ref Sequence

ENSEMBL: ENSMUSP00000127036 (fasta)

Gene Model

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

AlphaFold

Q64518

Predicted Effect

probably damaging
Transcript: ENSMUST00000021142
AA Change: T724S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021142
Gene: ENSMUSG00000020788
AA Change: T724S

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 damaging
Transcript: ENSMUST00000108484
AA Change: T706S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104124
Gene: ENSMUSG00000020788
AA Change: T706S

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 damaging
Transcript: ENSMUST00000108485
AA Change: T724S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104125
Gene: ENSMUSG00000020788
AA Change: T724S

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 damaging
Transcript: ENSMUST00000108486
AA Change: T706S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104126
Gene: ENSMUSG00000020788
AA Change: T706S

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: ENSMUST00000135234

Predicted Effect

probably damaging
Transcript: ENSMUST00000163326
AA Change: T724S

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

SMART Domains

Protein: ENSMUSP00000127036
Gene: ENSMUSG00000020788
AA Change: T724S

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

0.7878

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

95% (89/94)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	C	A	17: 36,203,820 (GRCm39)	K291N	probably damaging	Het
Adgra1	A	G	7: 139,456,102 (GRCm39)	T577A	probably damaging	Het
Akip1	T	A	7: 109,308,188 (GRCm39)	I152N	possibly damaging	Het
Armc9	A	G	1: 86,130,240 (GRCm39)	Y8C	probably damaging	Het
Atp1a4	A	T	1: 172,085,223 (GRCm39)	V66E	possibly damaging	Het
Bmp1	C	A	14: 70,730,284 (GRCm39)	R416L	probably damaging	Het
Bmt2	G	T	6: 13,663,300 (GRCm39)	A66E	probably benign	Het
Bscl2	A	T	19: 8,825,523 (GRCm39)	D403V	possibly damaging	Het
Cbx2	T	A	11: 118,919,935 (GRCm39)	I500N	probably damaging	Het
Cd84	A	T	1: 171,700,887 (GRCm39)	H216L	possibly damaging	Het
Cdhr18	A	T	14: 13,856,724 (GRCm38)	D462E	probably benign	Het
Ceacam15	T	C	7: 16,407,410 (GRCm39)	T36A	probably benign	Het
Cebpd	A	G	16: 15,705,385 (GRCm39)	D66G	probably damaging	Het
Cntnap4	A	G	8: 113,512,468 (GRCm39)	Y610C	probably damaging	Het
Col11a2	T	C	17: 34,283,267 (GRCm39)		probably null	Het
Col17a1	T	C	19: 47,651,497 (GRCm39)		probably null	Het
Cracr2b	A	G	7: 141,043,451 (GRCm39)	D43G	probably damaging	Het
Dgkz	T	A	2: 91,768,691 (GRCm39)	K697*	probably null	Het
Dnah7b	T	A	1: 46,256,317 (GRCm39)	D1873E	possibly damaging	Het
Dst	G	A	1: 34,314,784 (GRCm39)	E6472K	possibly damaging	Het
Duox2	T	C	2: 122,111,414 (GRCm39)	D1428G	probably damaging	Het
Elmod2	T	C	8: 84,043,537 (GRCm39)	N210S	probably damaging	Het
Ephx1	A	G	1: 180,822,256 (GRCm39)	F220S	probably damaging	Het
F13b	A	G	1: 139,429,542 (GRCm39)	Y20C	unknown	Het
Fbn2	T	A	18: 58,173,265 (GRCm39)	N2051I	possibly damaging	Het
Gabrg2	G	A	11: 41,859,650 (GRCm39)	H201Y	probably damaging	Het
Gbgt1	T	C	2: 28,388,453 (GRCm39)	F46S	possibly damaging	Het
Gjd4	A	G	18: 9,280,578 (GRCm39)	S167P	probably damaging	Het
Heatr5a	T	C	12: 51,924,130 (GRCm39)	N2028D	probably benign	Het
Heca	T	C	10: 17,791,057 (GRCm39)	H333R	probably benign	Het
Herc1	T	C	9: 66,298,740 (GRCm39)	S625P	probably damaging	Het
Ighv1-55	T	C	12: 115,172,175 (GRCm39)		probably benign	Het
Ighv5-8	G	A	12: 113,618,777 (GRCm39)	S64N	probably benign	Het
Itga1	G	T	13: 115,138,227 (GRCm39)		probably null	Het
Kif21a	C	A	15: 90,824,748 (GRCm39)	R1342L	possibly damaging	Het
Ksr1	G	A	11: 78,965,186 (GRCm39)	P118S	possibly damaging	Het
Lat2	T	C	5: 134,634,911 (GRCm39)	N100S	probably damaging	Het
Lrit3	T	A	3: 129,582,121 (GRCm39)	D501V	probably damaging	Het
Lrrfip1	T	A	1: 91,031,042 (GRCm39)		probably null	Het
Lyst	G	A	13: 13,809,968 (GRCm39)	R546H	probably damaging	Het
Med21	T	A	6: 146,551,691 (GRCm39)	L114H	probably damaging	Het
Mfap4	A	T	11: 61,376,336 (GRCm39)		probably benign	Het
Mpdz	G	A	4: 81,302,049 (GRCm39)	R233W	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Ncapd3	T	C	9: 27,006,038 (GRCm39)		probably benign	Het
Neto2	T	G	8: 86,396,333 (GRCm39)	H104P	probably damaging	Het
Nr1h2	T	C	7: 44,201,979 (GRCm39)	T36A	possibly damaging	Het
Nudt16l2	T	C	9: 105,021,647 (GRCm39)	D133G	probably benign	Het
Or13a20	A	T	7: 140,232,074 (GRCm39)	M61L	probably damaging	Het
Or4a79	T	C	2: 89,551,838 (GRCm39)	I206V	probably benign	Het
Or51ab3	T	G	7: 103,201,183 (GRCm39)	L64V	probably damaging	Het
Or51g2	A	G	7: 102,623,013 (GRCm39)	M62T	probably damaging	Het
Or52p1	T	A	7: 104,267,631 (GRCm39)	C248*	probably null	Het
Or5p52	A	G	7: 107,502,567 (GRCm39)	I214M	probably damaging	Het
Or5p72	T	C	7: 108,022,309 (GRCm39)	V177A	possibly damaging	Het
Or8b4	T	C	9: 37,830,882 (GRCm39)	*310R	probably null	Het
Pcbp3	A	G	10: 76,606,869 (GRCm39)	L241S	possibly damaging	Het
Pcf11	G	A	7: 92,308,985 (GRCm39)		probably benign	Het
Podxl	G	A	6: 31,503,579 (GRCm39)	T254M	possibly damaging	Het
Prr27	A	C	5: 87,991,100 (GRCm39)	E237D	possibly damaging	Het
Rdh16	G	T	10: 127,637,316 (GRCm39)	V84F	probably damaging	Het
Rnf26	A	T	9: 44,023,428 (GRCm39)	D273E	probably benign	Het
Rpl13a	A	T	7: 44,776,242 (GRCm39)		probably benign	Het
Rpl3l	A	G	17: 24,952,584 (GRCm39)	K239E	probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Rsf1	A	AGGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Ryk	A	G	9: 102,768,415 (GRCm39)	D352G	possibly damaging	Het
Setd1b	T	A	5: 123,299,061 (GRCm39)		probably benign	Het
Sh2b1	G	A	7: 126,070,618 (GRCm39)	A361V	possibly damaging	Het
Slc35f3	A	T	8: 127,047,935 (GRCm39)	K92*	probably null	Het
Slc39a10	A	G	1: 46,857,144 (GRCm39)		probably benign	Het
Slc47a1	G	A	11: 61,253,857 (GRCm39)	T194I	probably benign	Het
Slc6a3	C	A	13: 73,692,936 (GRCm39)	N185K	probably damaging	Het
Stag1	T	C	9: 100,730,758 (GRCm39)	V391A	probably damaging	Het
Syne2	A	C	12: 75,996,075 (GRCm39)	N2206T	probably damaging	Het
Tbc1d23	C	A	16: 57,003,325 (GRCm39)	R481I	possibly damaging	Het
Tcstv7b	T	C	13: 120,702,362 (GRCm39)	W53R	probably damaging	Het
Tfam	A	G	10: 71,069,225 (GRCm39)	S166P	probably benign	Het
Tmem63a	A	G	1: 180,784,056 (GRCm39)	H212R	probably benign	Het
Txndc11	T	A	16: 10,902,745 (GRCm39)	Q634L	possibly damaging	Het
Usp31	T	C	7: 121,306,548 (GRCm39)		probably benign	Het
Vmn1r204	A	T	13: 22,740,962 (GRCm39)	M198L	probably damaging	Het
Vmn2r17	A	T	5: 109,575,049 (GRCm39)	T119S	probably benign	Het
Vsig1	A	G	X: 139,833,861 (GRCm39)	D227G	probably damaging	Het
Zfhx2	G	A	14: 55,304,678 (GRCm39)	P1102L	probably benign	Het
Zfp715	T	C	7: 42,949,444 (GRCm39)	Q172R	probably benign	Het
Zfp872	A	G	9: 22,108,701 (GRCm39)	D53G	probably damaging	Het
Zswim8	G	A	14: 20,764,681 (GRCm39)	D684N	probably benign	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
R4795:Atp2a3	UTSW	11	72,863,855 (GRCm39)	missense	probably benign	0.01
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'- TCTGAGACCTTGGGGACATC -3'
(R):5'- TGCTGGATTGTACCACAGG -3'

Sequencing Primer
(F):5'- ACGTAGGCAAGTCTCTCA -3'
(R):5'- CTCAGGGACAGAGCTGGTTG -3'

Posted On

2015-10-08