Mutagenetix > Incidental Mutation

Incidental Mutation 'R9608:Atp2a3'

724031

Institutional Source

Beutler Lab

Gene Symbol

Atp2a3

Ensembl Gene

ENSMUSG00000020788

Gene Name

ATPase, Ca++ transporting, ubiquitous

Synonyms

Serca3

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9608 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72851995-72883869 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72879866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 978 (I978T)

Ref Sequence

ENSEMBL: ENSMUSP00000021142 (fasta)

Gene Model

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

AlphaFold

Q64518

Predicted Effect

probably benign
Transcript: ENSMUST00000021142
AA Change: I978T

PolyPhen 2 Score 0.404 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000021142
Gene: ENSMUSG00000020788
AA Change: I978T

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

possibly damaging
Transcript: ENSMUST00000108484
AA Change: I960T

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104124
Gene: ENSMUSG00000020788
AA Change: I960T

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: I978T

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104125
Gene: ENSMUSG00000020788
AA Change: I978T

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

possibly damaging
Transcript: ENSMUST00000108486
AA Change: I960T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104126
Gene: ENSMUSG00000020788
AA Change: I960T

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

possibly damaging
Transcript: ENSMUST00000163326
AA Change: I978T

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127036
Gene: ENSMUSG00000020788
AA Change: I978T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	A	19: 55,272,884 (GRCm39)	I333N	probably damaging	Het
Adam2	T	C	14: 66,291,279 (GRCm39)	N333S	probably null	Het
Adgrb2	A	G	4: 129,907,352 (GRCm39)	T955A	probably damaging	Het
Agxt2	T	C	15: 10,400,624 (GRCm39)	F476S	possibly damaging	Het
Asb14	T	A	14: 26,634,148 (GRCm39)	F451Y	probably damaging	Het
Atg9a	A	T	1: 75,161,739 (GRCm39)	N602K	possibly damaging	Het
BC034090	A	G	1: 155,099,135 (GRCm39)	V550A	possibly damaging	Het
Bud23	T	A	5: 135,086,526 (GRCm39)		probably null	Het
C1qtnf3	A	T	15: 10,952,568 (GRCm39)	H10L	probably benign	Het
Cage1	G	C	13: 38,195,371 (GRCm39)	I783M	possibly damaging	Het
Ccdc142	C	T	6: 83,084,082 (GRCm39)	Q496*	probably null	Het
Cd163	A	C	6: 124,286,163 (GRCm39)	K238Q	possibly damaging	Het
Cdh6	A	T	15: 13,064,621 (GRCm39)	Y90N	probably damaging	Het
Cpeb1	A	G	7: 81,021,758 (GRCm39)		probably null	Het
Cpt2	G	T	4: 107,765,341 (GRCm39)	P141Q	probably damaging	Het
Cspg4	T	A	9: 56,792,836 (GRCm39)	H190Q	probably benign	Het
Dcst1	T	C	3: 89,266,442 (GRCm39)	M139V	possibly damaging	Het
Dennd5a	G	C	7: 109,520,713 (GRCm39)	N381K	probably damaging	Het
Dera	A	G	6: 137,813,876 (GRCm39)	R299G	possibly damaging	Het
Dnah2	C	T	11: 69,344,888 (GRCm39)	G2729R	probably null	Het
Dnajc11	A	G	4: 152,034,978 (GRCm39)	E67G	possibly damaging	Het
Eif2ak3	T	A	6: 70,841,511 (GRCm39)	C152*	probably null	Het
Eln	T	G	5: 134,755,331 (GRCm39)	K241Q	unknown	Het
Exoc6b	C	T	6: 84,602,106 (GRCm39)		probably null	Het
Eya1	A	T	1: 14,373,029 (GRCm39)	I30K	probably benign	Het
Fbxo39	A	G	11: 72,208,101 (GRCm39)	K151R	probably benign	Het
Fer	A	G	17: 64,214,327 (GRCm39)	T87A	probably benign	Het
Fgf4	A	T	7: 144,415,335 (GRCm39)	N32Y	possibly damaging	Het
Fkbp6	G	A	5: 135,375,027 (GRCm39)	P129S	probably damaging	Het
Fndc7	C	A	3: 108,774,597 (GRCm39)	V554F	probably damaging	Het
Frk	G	A	10: 34,481,873 (GRCm39)		probably null	Het
Ghrhr	T	A	6: 55,357,786 (GRCm39)	I139N	possibly damaging	Het
Gm17175	A	T	14: 51,809,099 (GRCm39)	M89K	probably damaging	Het
Gm4787	A	T	12: 81,425,086 (GRCm39)	N357K	probably benign	Het
Gpihbp1	G	A	15: 75,469,612 (GRCm39)	C109Y	probably damaging	Het
Gps1	T	C	11: 120,677,641 (GRCm39)	V257A	probably benign	Het
H2-M3	T	C	17: 37,581,159 (GRCm39)	S3P	probably benign	Het
Hmcn1	G	A	1: 150,475,303 (GRCm39)	P4674L	probably damaging	Het
Hoxa11	T	C	6: 52,222,224 (GRCm39)	D159G	probably benign	Het
Kcnn4	G	A	7: 24,083,503 (GRCm39)	D395N	probably damaging	Het
Krt222	T	C	11: 99,126,981 (GRCm39)	E213G	probably damaging	Het
Lmcd1	A	G	6: 112,306,785 (GRCm39)	D319G	possibly damaging	Het
Ltv1	A	G	10: 13,066,440 (GRCm39)	F62S	probably damaging	Het
Man2a1	G	T	17: 65,041,953 (GRCm39)	R957L	probably damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mrpl45	T	G	11: 97,217,687 (GRCm39)	V197G	probably damaging	Het
Ndn	C	T	7: 61,998,337 (GRCm39)	P61L	possibly damaging	Het
Nek4	T	C	14: 30,675,904 (GRCm39)	Y73H	probably damaging	Het
Nom1	T	A	5: 29,642,750 (GRCm39)	V417D	probably damaging	Het
Or10q1b	A	T	19: 13,682,868 (GRCm39)	I226F	probably damaging	Het
Or4k5	A	G	14: 50,386,055 (GRCm39)	I92T	probably benign	Het
Or5p68	A	G	7: 107,945,513 (GRCm39)	L225P	probably damaging	Het
Pacs1	A	G	19: 5,193,862 (GRCm39)	S556P	probably damaging	Het
Pcdh1	C	T	18: 38,330,904 (GRCm39)	V839M	possibly damaging	Het
Pcdhb18	T	A	18: 37,623,694 (GRCm39)	N341K	probably damaging	Het
Pde6d	G	A	1: 86,473,424 (GRCm39)	T124M	possibly damaging	Het
Piezo2	T	A	18: 63,280,016 (GRCm39)	E185V	probably benign	Het
Pkhd1l1	T	C	15: 44,442,029 (GRCm39)	V3656A	possibly damaging	Het
Plcg1	A	G	2: 160,597,671 (GRCm39)	Y771C	probably benign	Het
Ppdpf	T	C	2: 180,829,668 (GRCm39)	L41P	probably benign	Het
Prepl	T	C	17: 85,376,321 (GRCm39)	T578A	probably benign	Het
Prkdc	C	A	16: 15,548,334 (GRCm39)	L1981M	possibly damaging	Het
Prkdc	T	A	16: 15,548,335 (GRCm39)	L1981Q	probably damaging	Het
Rb1cc1	C	T	1: 6,318,528 (GRCm39)	S649L	probably benign	Het
Rbbp6	A	G	7: 122,591,268 (GRCm39)	T457A	possibly damaging	Het
Sbf1	T	A	15: 89,191,808 (GRCm39)		probably null	Het
Scn1a	T	C	2: 66,152,687 (GRCm39)	I776V	probably benign	Het
Sec23a	G	A	12: 59,019,804 (GRCm39)	P588S	probably benign	Het
Slfn5	A	G	11: 82,851,830 (GRCm39)	D652G	possibly damaging	Het
Slfn5	C	A	11: 82,852,321 (GRCm39)	P816T	probably benign	Het
Smarcad1	C	T	6: 65,091,318 (GRCm39)	T1013I	probably damaging	Het
Spidr	G	A	16: 15,855,474 (GRCm39)	T347I	probably benign	Het
Stx1b	A	T	7: 127,406,551 (GRCm39)	M266K	probably damaging	Het
Tarm1	A	G	7: 3,551,062 (GRCm39)		probably benign	Het
Tfap2c	A	T	2: 172,391,764 (GRCm39)	K4*	probably null	Het
Trpm5	A	T	7: 142,633,148 (GRCm39)	V819E	possibly damaging	Het
Trrap	A	G	5: 144,780,128 (GRCm39)	T3240A	possibly damaging	Het
Uqcc2	A	T	17: 27,341,709 (GRCm39)	V130D	probably benign	Het
Uspl1	T	A	5: 149,151,870 (GRCm39)	D1023E	probably benign	Het
Vinac1	C	T	2: 128,878,550 (GRCm39)	W1125*	probably null	Het
Vmn2r28	A	T	7: 5,491,220 (GRCm39)	H342Q	probably benign	Het
Vmn2r33	A	T	7: 7,557,153 (GRCm39)	C516S	possibly damaging	Het
Vps45	G	A	3: 95,940,982 (GRCm39)	R420W	probably damaging	Het
Zfp42	C	T	8: 43,749,172 (GRCm39)	V110I	possibly damaging	Het
Zfp467	T	A	6: 48,404,776 (GRCm39)	K100N	unknown	Het
Zfyve16	A	T	13: 92,636,788 (GRCm39)	S1307R	probably damaging	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
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
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'- GATAGCACAACCTCTGGGAAG -3'
(R):5'- GCATCATAGCCACTAGGACTC -3'

Sequencing Primer
(F):5'- CCCAGTAGGCAAAGGTGTG -3'
(R):5'- CATCATAGCCACTAGGACTCTTTATG -3'

Posted On

2022-09-12