Mutagenetix > Incidental Mutation

Incidental Mutation 'R0193:Atp2a3'

23236

Institutional Source

Beutler Lab

Gene Symbol

Atp2a3

Ensembl Gene

ENSMUSG00000020788

Gene Name

ATPase, Ca++ transporting, ubiquitous

Synonyms

Serca3

MMRRC Submission

038452-MU

Accession Numbers

Essential gene?

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

Stock #

R0193 (G1)

Quality Score

212

Status

Validated (trace)

Chromosome

Chromosomal Location

72851995-72883869 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 72863046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 99 (V99L)

Ref Sequence

ENSEMBL: ENSMUSP00000104125 (fasta)

Gene Model

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

AlphaFold

Q64518

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021142
AA Change: V99L

PolyPhen 2 Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000021142
Gene: ENSMUSG00000020788
AA Change: V99L

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: V99L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000104124
Gene: ENSMUSG00000020788
AA Change: V99L

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

possibly damaging
Transcript: ENSMUST00000108485
AA Change: V99L

PolyPhen 2 Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104125
Gene: ENSMUSG00000020788
AA Change: V99L

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: V99L

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000104126
Gene: ENSMUSG00000020788
AA Change: V99L

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: V99L

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

SMART Domains

Protein: ENSMUSP00000127036
Gene: ENSMUSG00000020788
AA Change: V99L

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

0.1734

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 94.7%
20x: 85.3%

Validation Efficiency

95% (186/196)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	C	15: 74,444,005 (GRCm39)	S96P	probably damaging	Het
Akr1c20	A	G	13: 4,561,292 (GRCm39)		probably benign	Het
Atp6v0a1	T	A	11: 100,939,308 (GRCm39)	I691N	possibly damaging	Het
Atp8b1	C	T	18: 64,694,707 (GRCm39)	R525Q	probably benign	Het
Aurkb	A	G	11: 68,939,370 (GRCm39)	D151G	probably damaging	Het
Bank1	A	T	3: 135,772,279 (GRCm39)		probably benign	Het
Bcl9l	T	C	9: 44,418,703 (GRCm39)	L847P	probably damaging	Het
Bscl2	T	A	19: 8,824,793 (GRCm39)	M292K	probably benign	Het
Cacna1c	C	T	6: 118,579,363 (GRCm39)		probably benign	Het
Cadps2	T	C	6: 23,599,439 (GRCm39)	K260R	probably benign	Het
Cc2d2a	T	C	5: 43,893,460 (GRCm39)	S1419P	probably damaging	Het
Ccdc180	G	A	4: 45,914,803 (GRCm39)	E145K	probably benign	Het
Ccno	C	T	13: 113,125,418 (GRCm39)		probably benign	Het
Cd300a	A	G	11: 114,784,202 (GRCm39)	D70G	probably benign	Het
Cenpc1	T	C	5: 86,180,262 (GRCm39)	D670G	probably benign	Het
Cenpl	A	G	1: 160,913,558 (GRCm39)	I323V	probably damaging	Het
Cfap44	A	G	16: 44,269,573 (GRCm39)		probably null	Het
Cfap74	C	T	4: 155,510,572 (GRCm39)	R386C	probably benign	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Clcnkb	T	C	4: 141,139,627 (GRCm39)	E125G	possibly damaging	Het
Clstn1	G	A	4: 149,719,253 (GRCm39)	V361M	probably damaging	Het
Coro7	G	A	16: 4,445,368 (GRCm39)		probably benign	Het
Dchs1	C	T	7: 105,414,190 (GRCm39)	R875H	probably benign	Het
Eif3j1	A	C	2: 121,882,508 (GRCm39)	M239L	probably benign	Het
Eif4g3	G	T	4: 137,873,687 (GRCm39)		probably benign	Het
Elapor2	A	T	5: 9,472,359 (GRCm39)	Q352L	probably damaging	Het
Erbb4	T	C	1: 68,083,119 (GRCm39)		probably benign	Het
Erlin2	T	G	8: 27,521,792 (GRCm39)	V164G	possibly damaging	Het
Fbxo43	G	T	15: 36,162,029 (GRCm39)	Q393K	probably benign	Het
Fcgr4	A	T	1: 170,853,329 (GRCm39)	N178I	possibly damaging	Het
Grid2	A	G	6: 64,040,937 (GRCm39)	N293S	possibly damaging	Het
H2-M1	C	T	17: 36,982,224 (GRCm39)	V126I	probably benign	Het
Htr1f	T	A	16: 64,747,112 (GRCm39)	Y60F	probably damaging	Het
Ilf2	A	G	3: 90,388,646 (GRCm39)		probably null	Het
Impg2	A	T	16: 56,085,412 (GRCm39)	K931*	probably null	Het
Ints1	T	C	5: 139,737,485 (GRCm39)	E2176G	probably damaging	Het
Iqsec2	T	C	X: 151,006,399 (GRCm39)	V1319A	probably benign	Het
Iqsec3	G	T	6: 121,387,683 (GRCm39)	D685E	probably damaging	Het
Itgbl1	G	A	14: 124,083,958 (GRCm39)	V279I	probably benign	Het
Kdm4b	C	T	17: 56,700,952 (GRCm39)	A541V	probably benign	Het
Kif14	A	T	1: 136,396,176 (GRCm39)	T161S	probably benign	Het
Krt86	T	C	15: 101,377,244 (GRCm39)		probably benign	Het
Kyat1	C	T	2: 30,077,198 (GRCm39)		probably null	Het
Limch1	T	C	5: 67,184,882 (GRCm39)	W791R	probably damaging	Het
Map3k11	T	A	19: 5,745,874 (GRCm39)	M396K	probably damaging	Het
Mat2a	A	G	6: 72,413,178 (GRCm39)		probably null	Het
Mbnl2	A	G	14: 120,616,649 (GRCm39)	I88V	possibly damaging	Het
Mib2	T	C	4: 155,740,130 (GRCm39)	T708A	probably benign	Het
Mix23	T	C	16: 35,903,184 (GRCm39)	S59P	probably damaging	Het
Mkks	T	C	2: 136,719,526 (GRCm39)		probably null	Het
Mtss1	T	C	15: 58,815,866 (GRCm39)	M565V	probably damaging	Het
Myoc	A	G	1: 162,476,604 (GRCm39)	N436S	probably damaging	Het
Myod1	T	A	7: 46,026,536 (GRCm39)	V147E	probably damaging	Het
Ngef	A	G	1: 87,437,056 (GRCm39)	L144P	probably benign	Het
Ngrn	C	T	7: 79,911,678 (GRCm39)	R92W	probably damaging	Het
Nup153	G	A	13: 46,863,130 (GRCm39)	T349I	probably benign	Het
Or4c15	T	A	2: 88,760,627 (GRCm39)	I11L	probably benign	Het
Or52ad1	G	T	7: 102,995,411 (GRCm39)	S241R	possibly damaging	Het
Pigl	A	G	11: 62,394,574 (GRCm39)	I135M	probably damaging	Het
Pitpnm3	A	G	11: 71,961,318 (GRCm39)		probably benign	Het
Pkhd1	A	T	1: 20,429,141 (GRCm39)	F2420I	probably damaging	Het
Polr2b	C	T	5: 77,467,923 (GRCm39)	T119M	probably damaging	Het
Prr29	A	G	11: 106,267,722 (GRCm39)	Y130C	probably damaging	Het
Rab11fip3	T	C	17: 26,209,973 (GRCm39)	I1048V	probably damaging	Het
Rab12	G	A	17: 66,807,357 (GRCm39)	T124I	probably damaging	Het
Rab44	A	G	17: 29,359,281 (GRCm39)	S490G	probably benign	Het
Rasa3	A	G	8: 13,620,233 (GRCm39)		probably null	Het
Rhbdl3	C	T	11: 80,244,400 (GRCm39)	S369L	possibly damaging	Het
Rimbp2	A	T	5: 128,865,420 (GRCm39)	S643T	probably benign	Het
Rin1	T	G	19: 5,102,680 (GRCm39)	S396R	probably damaging	Het
Rpusd3	C	T	6: 113,396,198 (GRCm39)	G28S	probably damaging	Het
Rtl9	T	A	X: 141,883,274 (GRCm39)	S229T	probably damaging	Het
Rufy1	G	T	11: 50,280,679 (GRCm39)	T701N	probably benign	Het
Scn4a	A	T	11: 106,211,364 (GRCm39)	L1551*	probably null	Het
Sec24b	T	C	3: 129,782,633 (GRCm39)	N1119S	probably null	Het
Serbp1	T	A	6: 67,249,868 (GRCm39)	*75R	probably null	Het
Setx	C	T	2: 29,069,685 (GRCm39)	P2497S	probably benign	Het
Slc26a11	A	T	11: 119,250,140 (GRCm39)	I132F	probably damaging	Het
Slc4a1	A	G	11: 102,243,510 (GRCm39)	V707A	possibly damaging	Het
Slfn1	A	G	11: 83,012,669 (GRCm39)	I262V	probably damaging	Het
Tmem168	T	A	6: 13,583,312 (GRCm39)	D523V	possibly damaging	Het
Traf7	G	T	17: 24,729,525 (GRCm39)	Q469K	probably benign	Het
Trdmt1	C	A	2: 13,549,428 (GRCm39)	V6F	probably damaging	Het
Tsacc	A	T	3: 88,194,395 (GRCm39)		probably benign	Het
Vmn2r5	A	G	3: 64,398,951 (GRCm39)	I589T	possibly damaging	Het
Vmn2r7	T	C	3: 64,598,460 (GRCm39)	D699G	probably damaging	Het
Vmn2r82	T	C	10: 79,217,129 (GRCm39)	V487A	probably damaging	Het
Zbtb47	T	C	9: 121,596,732 (GRCm39)	V696A	probably damaging	Het
Zfp287	A	T	11: 62,605,855 (GRCm39)	S351T	probably benign	Het
Zfp654	T	C	16: 64,606,051 (GRCm39)	H176R	possibly 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
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
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'- GACTAAAAGTCAAGGGGCTCACTCG -3'
(R):5'- AGAAGGACTTGGACATACCCACCTG -3'

Sequencing Primer
(F):5'- CACAGTTGGACTAACAGCTCTGA -3'
(R):5'- GGTCAGACCGGATCACCTTAC -3'

Posted On

2013-04-16