Mutagenetix > Incidental Mutations

Incidental Mutation 'R6107:Atp2a3'

485565

Institutional Source

Beutler Lab

Gene Symbol

Atp2a3

Ensembl Gene

ENSMUSG00000020788

Gene Name

ATPase, Ca++ transporting, ubiquitous

Synonyms

Serca3

MMRRC Submission

044257-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

R6107 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72961169-72993044 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 72988461 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127036 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000021142

SMART Domains

Protein: ENSMUSP00000021142
Gene: ENSMUSG00000020788

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 null
Transcript: ENSMUST00000108484

SMART Domains

Protein: ENSMUSP00000104124
Gene: ENSMUSG00000020788

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 null
Transcript: ENSMUST00000108485

SMART Domains

Protein: ENSMUSP00000104125
Gene: ENSMUSG00000020788

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 null
Transcript: ENSMUST00000108486

SMART Domains

Protein: ENSMUSP00000104126
Gene: ENSMUSG00000020788

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 null
Transcript: ENSMUST00000163326

SMART Domains

Protein: ENSMUSP00000127036
Gene: ENSMUSG00000020788

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Adgrl3	A	G	5: 81,688,563	R723G	probably damaging	Het
Ankrd52	C	A	10: 128,387,012	N610K	probably benign	Het
Bahcc1	G	A	11: 120,272,888	A671T	probably benign	Het
Col6a5	A	T	9: 105,892,272	Y1764*	probably null	Het
E2f8	A	G	7: 48,867,676	V793A	probably benign	Het
Erbin	A	G	13: 103,833,892	I1072T	probably benign	Het
Exoc2	T	C	13: 30,876,797	I575V	probably benign	Het
Fbxw19	C	T	9: 109,495,766	V28M	probably damaging	Het
Flt1	G	A	5: 147,603,593	T762M	probably benign	Het
Ghitm	C	A	14: 37,125,209	A303S	probably damaging	Het
Gm18856	T	A	13: 13,965,734		probably benign	Het
Gm5493	T	A	17: 22,748,096	H68Q	possibly damaging	Het
Hells	T	G	19: 38,953,649	I461S	probably benign	Het
Inpp4a	T	A	1: 37,377,748	I450N	probably damaging	Het
Kbtbd6	T	A	14: 79,453,113	V353D	probably damaging	Het
Kifap3	A	T	1: 163,868,769	T656S	possibly damaging	Het
Med23	A	T	10: 24,906,034	K713*	probably null	Het
Miga1	A	T	3: 152,335,399	F44I	probably benign	Het
Ngrn	A	G	7: 80,261,877	E74G	probably damaging	Het
Olfr1286	T	C	2: 111,420,655	S99G	probably benign	Het
Patl2	A	T	2: 122,127,486	L97Q	probably damaging	Het
Pcdha1	A	G	18: 36,932,301	I673V	probably benign	Het
Pcsk1	A	G	13: 75,127,848	T543A	probably benign	Het
Plch1	C	T	3: 63,702,023	R912H	probably damaging	Het
Prl8a8	A	G	13: 27,511,464	V100A	possibly damaging	Het
Rnase10	T	A	14: 51,009,294	V43E	possibly damaging	Het
Robo1	A	G	16: 72,983,829	S816G	probably benign	Het
Slc25a34	C	T	4: 141,623,495	V68M	probably benign	Het
Slc25a48	A	T	13: 56,465,078	E263V	probably damaging	Het
Slc7a14	A	G	3: 31,257,610	V87A	probably damaging	Het
Slc8b1	A	G	5: 120,529,600	I433V	probably damaging	Het
Smurf1	A	G	5: 144,894,504	V259A	possibly damaging	Het
Spag6l	T	A	16: 16,781,788	N270I	possibly damaging	Het
Tas2r113	G	A	6: 132,893,014	V2M	probably damaging	Het
Tnpo2	T	C	8: 85,053,475	V680A	probably damaging	Het
Ttyh3	A	C	5: 140,633,562		probably null	Het
Ufl1	A	G	4: 25,251,999	S639P	possibly damaging	Het
Znfx1	A	T	2: 167,037,081	F928I	possibly damaging	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
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
R6157:Atp2a3	UTSW	11	72980616	missense	probably damaging	1.00
R6760:Atp2a3	UTSW	11	72982740	missense	probably damaging	1.00
R7406:Atp2a3	UTSW	11	72978750	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGGGTCTAAGGCCAAAAG -3'
(R):5'- ACTGTAACCCCAGGAACTTCG -3'

Sequencing Primer
(F):5'- ATGAAGATTGAGGTCTCTGGAC -3'
(R):5'- CCCAGGAACTTCGGAGGGAG -3'

Posted On

2017-08-16