Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01141:Atp2a3'

52381

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 #

IGL01141

Quality Score

Status

Chromosome

Chromosomal Location

72961169-72993044 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72982665 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 788 (I788T)

Ref Sequence

ENSEMBL: ENSMUSP00000104125 (fasta)

Gene Model

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

AlphaFold

Q64518

Predicted Effect

probably damaging
Transcript: ENSMUST00000021142
AA Change: I788T

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

SMART Domains

Protein: ENSMUSP00000021142
Gene: ENSMUSG00000020788
AA Change: I788T

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: I770T

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

SMART Domains

Protein: ENSMUSP00000104124
Gene: ENSMUSG00000020788
AA Change: I770T

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: I788T

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

SMART Domains

Protein: ENSMUSP00000104125
Gene: ENSMUSG00000020788
AA Change: I788T

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: I770T

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104126
Gene: ENSMUSG00000020788
AA Change: I770T

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 damaging
Transcript: ENSMUST00000163326
AA Change: I788T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127036
Gene: ENSMUSG00000020788
AA Change: I788T

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,937,730	D1447E	probably damaging	Het
Axin1	G	A	17: 26,190,041	E672K	probably damaging	Het
Ccno	A	G	13: 112,989,027	D175G	probably damaging	Het
Cep83	C	A	10: 94,788,757	T632K	probably benign	Het
Ckmt1	A	T	2: 121,362,993	I345F	probably benign	Het
Cntnap1	G	A	11: 101,178,807		probably benign	Het
Edem2	A	G	2: 155,709,028	Y340H	probably benign	Het
Erich3	A	G	3: 154,714,016	K249R	probably benign	Het
Fndc9	T	C	11: 46,237,699	I15T	probably benign	Het
Gm4758	A	G	16: 36,308,064	E7G	probably benign	Het
Grip2	G	T	6: 91,782,897	Q300K	probably benign	Het
Herc2	T	C	7: 56,212,841	V4050A	possibly damaging	Het
Jup	A	T	11: 100,386,249	D44E	probably benign	Het
Lingo3	G	T	10: 80,835,313	P261Q	probably damaging	Het
Lrrfip2	C	T	9: 111,219,715	R311W	probably damaging	Het
Mansc1	C	A	6: 134,621,785	L56F	probably benign	Het
Map1b	A	G	13: 99,434,761	I484T	probably damaging	Het
Mpeg1	T	A	19: 12,462,785	F536I	probably damaging	Het
Mrgprb1	T	G	7: 48,448,027	T46P	probably benign	Het
Mug1	A	G	6: 121,870,499	N612S	probably benign	Het
Olfr477	T	C	7: 107,990,551	F62S	probably damaging	Het
Olfr805	T	A	10: 129,722,945	I200L	probably benign	Het
Pax8	A	G	2: 24,441,150	S178P	probably damaging	Het
Peak1	A	G	9: 56,258,527	F706L	probably benign	Het
Prkdc	A	G	16: 15,726,704	T1853A	probably damaging	Het
Reln	A	C	5: 21,969,033	F2024C	probably damaging	Het
Reln	G	T	5: 21,919,069	P2813Q	probably damaging	Het
Riox1	A	G	12: 83,951,794	Q368R	probably damaging	Het
Rspry1	T	C	8: 94,649,855	V335A	probably benign	Het
Scn3a	T	C	2: 65,495,113	N1020S	possibly damaging	Het
Scyl2	A	G	10: 89,640,635	V876A	probably benign	Het
Sdhaf3	T	A	6: 6,956,141	F39I	probably damaging	Het
Sfxn4	T	C	19: 60,851,014	E202G	possibly damaging	Het
Slc1a4	A	T	11: 20,308,644		probably benign	Het
Sln	A	G	9: 53,853,500	I10V	probably benign	Het
Ssh2	A	G	11: 77,449,726	E568G	probably damaging	Het
Supt7l	G	A	5: 31,518,435	P270S	probably benign	Het
Tanc2	A	G	11: 105,886,474		probably benign	Het
Tatdn1	A	T	15: 58,909,567		probably benign	Het
Tfip11	C	T	5: 112,329,503	P117L	possibly damaging	Het
Vpreb1	T	C	16: 16,869,087	M9V	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
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
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

2013-06-21