Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02650:Atp2a3'

302118

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp2a3

Ensembl Gene

ENSMUSG00000020788

Gene Name

ATPase, Ca++ transporting, ubiquitous

Synonyms

Serca3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

IGL02650

Quality Score

Status

Chromosome

Chromosomal Location

72961169-72993044 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 72975339 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 262 (H262N)

Ref Sequence

ENSEMBL: ENSMUSP00000104125 (fasta)

Gene Model

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

AlphaFold

Q64518

Predicted Effect

probably benign
Transcript: ENSMUST00000021142
AA Change: H262N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000021142
Gene: ENSMUSG00000020788
AA Change: H262N

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: H262N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104124
Gene: ENSMUSG00000020788
AA Change: H262N

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: H262N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000104125
Gene: ENSMUSG00000020788
AA Change: H262N

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: H262N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104126
Gene: ENSMUSG00000020788
AA Change: H262N

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: H262N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127036
Gene: ENSMUSG00000020788
AA Change: H262N

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

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,741,537	T586A	probably benign	Het
Acads	G	T	5: 115,112,815	T141N	probably benign	Het
Ankmy1	C	T	1: 92,881,023	R721H	probably damaging	Het
Appl1	A	G	14: 26,950,708	V236A	possibly damaging	Het
Arhgef5	C	T	6: 43,272,935	Q207*	probably null	Het
Atp6v0a2	G	T	5: 124,712,362		probably benign	Het
Cenpf	T	C	1: 189,652,473	K2537E	possibly damaging	Het
Cox7a1	A	T	7: 30,185,137	E32V	possibly damaging	Het
Dis3	A	T	14: 99,098,785	M95K	probably benign	Het
Dnah5	A	T	15: 28,289,047		probably benign	Het
Dock10	T	A	1: 80,574,123	Y665F	probably damaging	Het
Ghsr	A	T	3: 27,374,855	Q343L	probably benign	Het
Gm3252	T	A	14: 4,746,353	V215E	probably damaging	Het
Gm9979	A	G	13: 40,705,749		noncoding transcript	Het
Grik2	A	T	10: 49,101,235	M867K	probably benign	Het
Grm7	A	G	6: 111,358,958	T777A	probably damaging	Het
Hc	T	A	2: 35,000,874	Q1310L	possibly damaging	Het
Ifi44	A	G	3: 151,745,855	F205L	probably damaging	Het
Igkv4-86	T	C	6: 68,910,633	I40V	probably benign	Het
Jag1	T	C	2: 137,115,585	D69G	possibly damaging	Het
Lrch1	T	C	14: 74,813,698	D333G	probably damaging	Het
Mapre3	T	A	5: 30,864,709	I187N	probably damaging	Het
Myo15b	T	C	11: 115,886,511		probably null	Het
Nanos2	C	T	7: 18,987,869	P89S	probably damaging	Het
Olfr1214	T	A	2: 88,988,080	M41L	probably benign	Het
Parp16	G	A	9: 65,233,816	V223I	probably damaging	Het
Rnf123	A	G	9: 108,069,748	M231T	probably benign	Het
Suco	C	A	1: 161,848,753		probably benign	Het
Synj1	G	T	16: 90,976,696	T459N	probably benign	Het
Taf4b	C	T	18: 14,841,983	Q732*	probably null	Het
Tas2r102	A	G	6: 132,762,210	N27S	probably null	Het
Tctex1d1	C	A	4: 102,988,606	Q12K	probably benign	Het
Tll1	C	T	8: 64,046,997		probably benign	Het
Vmn1r168	A	G	7: 23,541,491	I258V	probably benign	Het
Vmn2r71	T	A	7: 85,624,327	M783K	probably damaging	Het
Vmn2r98	G	A	17: 19,080,961	V742I	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
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
R7406:Atp2a3	UTSW	11	72978750	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

Posted On

2015-04-16