Mutagenetix > Incidental Mutation

Incidental Mutation 'R7406:Atp2a3'

574754

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: 0.118) question?

Stock #

R7406 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72961169-72993044 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72978750 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 497 (Y497C)

Ref Sequence

ENSEMBL: ENSMUSP00000021142 (fasta)

Gene Model

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

AlphaFold

Q64518

Predicted Effect

probably damaging
Transcript: ENSMUST00000021142
AA Change: Y497C

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

SMART Domains

Protein: ENSMUSP00000021142
Gene: ENSMUSG00000020788
AA Change: Y497C

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: Y497C

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

SMART Domains

Protein: ENSMUSP00000104124
Gene: ENSMUSG00000020788
AA Change: Y497C

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: Y497C

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

SMART Domains

Protein: ENSMUSP00000104125
Gene: ENSMUSG00000020788
AA Change: Y497C

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: Y497C

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104126
Gene: ENSMUSG00000020788
AA Change: Y497C

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

probably damaging
Transcript: ENSMUST00000163326
AA Change: Y497C

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

SMART Domains

Protein: ENSMUSP00000127036
Gene: ENSMUSG00000020788
AA Change: Y497C

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: 99.7%
20x: 99.0%

Validation Efficiency

98% (60/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	C	1: 86,046,509	S183P	possibly damaging	Het
2900092C05Rik	A	G	7: 12,515,464	T75A	possibly damaging	Het
Abhd8	A	G	8: 71,461,762	V74A	probably benign	Het
Agrn	A	C	4: 156,172,301	S1282R	possibly damaging	Het
Atf5	T	C	7: 44,812,956	N248S	possibly damaging	Het
BC053393	A	G	11: 46,577,458	T120A	possibly damaging	Het
Bpifa2	T	G	2: 154,009,819	S58R	probably benign	Het
Cacna1h	C	T	17: 25,385,626	E1238K	possibly damaging	Het
Ccdc71	T	A	9: 108,463,324	L112*	probably null	Het
Cd300e	A	T	11: 115,055,302	I111N	probably damaging	Het
Cdkl3	A	T	11: 52,033,542	E552D	probably benign	Het
Chst5	A	G	8: 111,890,613	V125A	probably benign	Het
Clock	A	T	5: 76,266,845	M1K	probably null	Het
Cops7b	T	A	1: 86,601,130	L193Q	probably benign	Het
Csmd1	T	C	8: 16,288,693	T467A	probably damaging	Het
Ctr9	A	G	7: 111,053,408	E971G	unknown	Het
Dcp2	A	G	18: 44,410,187	T271A	probably benign	Het
Dsp	A	G	13: 38,197,196	N2639S	possibly damaging	Het
Fam160a1	T	C	3: 85,730,477	I172V	probably benign	Het
Gm11168	C	G	9: 3,006,912	C212W	probably benign	Het
Gpr179	G	T	11: 97,351,594	D141E	probably damaging	Het
Hdhd2	C	T	18: 76,944,115	T89M	probably benign	Het
Hist1h2bc	A	G	13: 23,684,359	Y43C	probably damaging	Het
Krt6b	T	G	15: 101,679,078	T194P	probably benign	Het
Lrp1b	T	C	2: 41,376,018		probably null	Het
Maneal	A	T	4: 124,860,368	I214N	possibly damaging	Het
Map1lc3b	T	A	8: 121,590,616	C11S	unknown	Het
Mapt	G	A	11: 104,322,524	G296E	possibly damaging	Het
Mettl7a3	T	C	15: 100,335,408	V160A	probably benign	Het
Mgam	A	G	6: 40,663,525	N509S	probably benign	Het
Mrgprx1	T	A	7: 48,021,985	I5F	possibly damaging	Het
Mroh5	T	C	15: 73,787,734	D416G	probably benign	Het
Ncan	T	G	8: 70,110,099	D503A	probably benign	Het
Nedd1	A	T	10: 92,711,323		probably null	Het
Ogdh	A	G	11: 6,348,351	T641A	probably benign	Het
Olfr11	T	C	13: 21,639,146	I126V	probably benign	Het
Olfr730	T	A	14: 50,186,558	I221F	probably damaging	Het
Olfr818	A	T	10: 129,945,566	D50E	probably benign	Het
Olfr904	T	A	9: 38,464,143	M34K	possibly damaging	Het
Pcdhga8	A	C	18: 37,726,185	Q98P	possibly damaging	Het
Pik3c2a	A	G	7: 116,354,007	Y1218H	probably damaging	Het
Ppp3cc	A	T	14: 70,245,938	S229T	possibly damaging	Het
Prss43	T	G	9: 110,828,696	I221S	probably damaging	Het
Rasal1	A	T	5: 120,662,937	T221S	probably benign	Het
Serpinb9f	G	T	13: 33,334,560	E348*	probably null	Het
Sfxn5	A	G	6: 85,267,907	Y169H	probably damaging	Het
Skint9	T	C	4: 112,389,231	N228S	probably benign	Het
Slx4ip	A	T	2: 137,000,242	D29V	probably damaging	Het
Snx29	G	T	16: 11,755,316	G474V	probably damaging	Het
Spata6	T	A	4: 111,780,820	D282E	possibly damaging	Het
Srek1	A	T	13: 103,769,382	V77E	probably damaging	Het
Tnfrsf22	T	C	7: 143,640,827	D121G	probably damaging	Het
Ucma	G	A	2: 4,985,359	W122*	probably null	Het
Vmn2r124	T	C	17: 18,062,044	M113T	unknown	Het
Vmn2r54	A	T	7: 12,616,223		probably null	Het
Vmn2r8	A	G	5: 108,800,576	L482S	probably benign	Het
Vwa3a	T	A	7: 120,778,915	I476N	probably damaging	Het
Vwa8	A	C	14: 78,982,234		probably null	Het
Wdr26	A	T	1: 181,187,675	S390R	probably damaging	Het
Zbtb40	A	T	4: 137,000,894	S471T	probably benign	Het

Other mutations in Atp2a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Atp2a3	APN	11	72982787	missense	probably damaging	0.98
IGL01141:Atp2a3	APN	11	72982665	missense	probably damaging	1.00
IGL01949:Atp2a3	APN	11	72981897	missense	probably damaging	1.00
IGL02267:Atp2a3	APN	11	72987984	missense	probably damaging	1.00
IGL02385:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02390:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02391:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02392:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02487:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02525:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02526:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02527:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02581:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02643:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02644:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02646:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02647:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02649:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02650:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02651:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02667:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02668:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02819:Atp2a3	APN	11	72977207	missense	probably damaging	1.00
IGL02888:Atp2a3	APN	11	72977128	splice site	probably benign
Aplomb	UTSW	11	72980448	missense	probably damaging	1.00
flair	UTSW	11	72975397	missense	probably damaging	1.00
panache	UTSW	11	72981939	missense	probably damaging	1.00
R0193:Atp2a3	UTSW	11	72972220	missense	possibly damaging	0.57
R0357:Atp2a3	UTSW	11	72970931	critical splice donor site	probably null
R0376:Atp2a3	UTSW	11	72982702	missense	probably damaging	1.00
R0452:Atp2a3	UTSW	11	72977232	splice site	probably null
R0494:Atp2a3	UTSW	11	72981905	missense	probably damaging	1.00
R0588:Atp2a3	UTSW	11	72973024	missense	possibly damaging	0.79
R0674:Atp2a3	UTSW	11	72981885	missense	probably damaging	1.00
R1586:Atp2a3	UTSW	11	72991744	missense	probably damaging	0.98
R1666:Atp2a3	UTSW	11	72978807	critical splice donor site	probably null
R1994:Atp2a3	UTSW	11	72975414	missense	probably damaging	0.99
R2087:Atp2a3	UTSW	11	72980448	missense	probably damaging	1.00
R4675:Atp2a3	UTSW	11	72981797	missense	probably damaging	1.00
R4795:Atp2a3	UTSW	11	72973029	missense	probably benign	0.01
R4898:Atp2a3	UTSW	11	72982680	missense	probably damaging	1.00
R5083:Atp2a3	UTSW	11	72982826	missense	probably null	0.49
R5174:Atp2a3	UTSW	11	72980215	missense	probably damaging	1.00
R5266:Atp2a3	UTSW	11	72975397	missense	probably damaging	1.00
R5304:Atp2a3	UTSW	11	72988557	missense	probably damaging	0.98
R5802:Atp2a3	UTSW	11	72972882	missense	probably damaging	1.00
R6107:Atp2a3	UTSW	11	72988461	critical splice acceptor site	probably null
R6157:Atp2a3	UTSW	11	72980616	missense	probably damaging	1.00
R6760:Atp2a3	UTSW	11	72982740	missense	probably damaging	1.00
R8818:Atp2a3	UTSW	11	72981939	missense	probably damaging	1.00
R9376:Atp2a3	UTSW	11	72972464	missense	probably damaging	1.00
R9456:Atp2a3	UTSW	11	72980305	missense	probably benign	0.07
R9562:Atp2a3	UTSW	11	72982752	missense	probably damaging	1.00
R9608:Atp2a3	UTSW	11	72989040	missense	probably benign	0.40
Z1176:Atp2a3	UTSW	11	72980622	missense	possibly damaging	0.96
Z1176:Atp2a3	UTSW	11	72989540	missense	probably benign
Z1177:Atp2a3	UTSW	11	72980327	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GCCTTGAATGCCAGAGTCAG -3'
(R):5'- ATTACCAATGGGCCTCACG -3'

Sequencing Primer
(F):5'- CCTTGAATGCCAGAGTCAGAGAAG -3'
(R):5'- GGGAACAAACTCATGGCCTCTTG -3'

Posted On

2019-10-07