Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01679:Atp2a1'

103742

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp2a1

Ensembl Gene

ENSMUSG00000030730

Gene Name

ATPase, Ca++ transporting, cardiac muscle, fast twitch 1

Synonyms

SERCA1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01679

Quality Score

Status

Chromosome

Chromosomal Location

126045032-126062245 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126055981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 280 (N280S)

Ref Sequence

ENSEMBL: ENSMUSP00000032974 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032974]

AlphaFold

Q8R429

Predicted Effect

probably benign
Transcript: ENSMUST00000032974
AA Change: N280S

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

SMART Domains

Protein: ENSMUSP00000032974
Gene: ENSMUSG00000030730
AA Change: N280S

Domain	Start	End	E-Value	Type
Cation_ATPase_N	3	77	4.39e-16	SMART
Pfam:E1-E2_ATPase	92	340	1.5e-66	PFAM
Pfam:Hydrolase	345	715	7.5e-20	PFAM
Pfam:HAD	348	712	1.2e-18	PFAM
Pfam:Cation_ATPase	418	528	3.2e-23	PFAM
Pfam:Hydrolase_3	683	747	2.3e-7	PFAM
Pfam:Cation_ATPase_C	784	987	4.8e-46	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 muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013]
PHENOTYPE: Homozygous mutation of this gene results in perinatal lethality. Mutant neonates display respiratory distress, progressive cyanosis, and die within 30 minutes-2 hours after birth. Lung tissues and the diaphragm muscle show aberrant morphology. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(1)

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,248,071 (GRCm39)	M2606K	probably benign	Het
Abl2	A	G	1: 156,470,035 (GRCm39)	I1100V	probably benign	Het
Car8	G	A	4: 8,169,674 (GRCm39)	T278I	possibly damaging	Het
Catsperb	G	A	12: 101,557,841 (GRCm39)		probably null	Het
Cfap47	A	G	X: 78,376,439 (GRCm39)	Y266H	probably damaging	Het
Cilk1	T	C	9: 78,047,307 (GRCm39)	I69T	possibly damaging	Het
Cmya5	T	C	13: 93,201,828 (GRCm39)	E3378G	probably damaging	Het
Ctsq	C	T	13: 61,186,722 (GRCm39)	G94D	probably benign	Het
Entpd8	A	G	2: 24,974,378 (GRCm39)	K388E	probably benign	Het
Gab1	C	T	8: 81,518,178 (GRCm39)	A145T	probably benign	Het
Gbp9	T	C	5: 105,233,038 (GRCm39)		probably null	Het
Gm6685	T	C	11: 28,289,586 (GRCm39)	T77A	possibly damaging	Het
Miga2	A	G	2: 30,268,262 (GRCm39)	K387R	probably benign	Het
Myo1g	A	G	11: 6,468,006 (GRCm39)	V143A	possibly damaging	Het
Pi4ka	A	G	16: 17,114,752 (GRCm39)		probably benign	Het
Plekhg6	T	C	6: 125,351,942 (GRCm39)	T201A	probably benign	Het
Pxdn	T	C	12: 30,049,901 (GRCm39)	S650P	probably damaging	Het
Rplp2	T	G	7: 141,028,679 (GRCm39)	I55S	probably damaging	Het
Sdk1	A	G	5: 142,031,919 (GRCm39)	D998G	probably benign	Het
Slc13a2	C	A	11: 78,295,537 (GRCm39)	A110S	probably damaging	Het
Slc38a2	A	T	15: 96,595,835 (GRCm39)	Y94*	probably null	Het
Smarcc1	A	G	9: 110,042,598 (GRCm39)	R889G	probably damaging	Het
Tie1	T	C	4: 118,339,936 (GRCm39)	T364A	probably benign	Het
Zfp655	A	G	5: 145,180,637 (GRCm39)	E165G	probably damaging	Het

Other mutations in Atp2a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Atp2a1	APN	7	126,046,388 (GRCm39)	nonsense	probably null
IGL00474:Atp2a1	APN	7	126,049,466 (GRCm39)	nonsense	probably null
IGL00500:Atp2a1	APN	7	126,046,388 (GRCm39)	nonsense	probably null
IGL01112:Atp2a1	APN	7	126,049,479 (GRCm39)	missense	probably benign	0.13
IGL01380:Atp2a1	APN	7	126,047,942 (GRCm39)	missense	possibly damaging	0.84
IGL01503:Atp2a1	APN	7	126,047,750 (GRCm39)	missense	probably damaging	1.00
IGL01630:Atp2a1	APN	7	126,049,437 (GRCm39)	missense	probably benign	0.00
IGL01729:Atp2a1	APN	7	126,057,106 (GRCm39)	missense	probably damaging	0.99
IGL02290:Atp2a1	APN	7	126,051,821 (GRCm39)	splice site	probably benign
IGL02929:Atp2a1	APN	7	126,056,116 (GRCm39)	missense	probably damaging	1.00
IGL02951:Atp2a1	APN	7	126,049,399 (GRCm39)	missense	possibly damaging	0.58
IGL03249:Atp2a1	APN	7	126,061,977 (GRCm39)	missense	probably benign	0.12
1mM(1):Atp2a1	UTSW	7	126,046,081 (GRCm39)	missense	probably damaging	1.00
R0052:Atp2a1	UTSW	7	126,057,069 (GRCm39)	splice site	probably benign
R0052:Atp2a1	UTSW	7	126,057,069 (GRCm39)	splice site	probably benign
R0070:Atp2a1	UTSW	7	126,046,624 (GRCm39)	missense	probably benign	0.03
R0070:Atp2a1	UTSW	7	126,046,624 (GRCm39)	missense	probably benign	0.03
R0121:Atp2a1	UTSW	7	126,057,116 (GRCm39)	missense	probably damaging	1.00
R0398:Atp2a1	UTSW	7	126,049,590 (GRCm39)	unclassified	probably benign
R0578:Atp2a1	UTSW	7	126,049,315 (GRCm39)	missense	probably benign
R0626:Atp2a1	UTSW	7	126,046,162 (GRCm39)	critical splice acceptor site	probably null
R0739:Atp2a1	UTSW	7	126,047,428 (GRCm39)	missense	possibly damaging	0.87
R1558:Atp2a1	UTSW	7	126,051,844 (GRCm39)	missense	possibly damaging	0.88
R1700:Atp2a1	UTSW	7	126,062,081 (GRCm39)	missense	probably damaging	1.00
R1748:Atp2a1	UTSW	7	126,058,780 (GRCm39)	missense	possibly damaging	0.67
R1799:Atp2a1	UTSW	7	126,049,314 (GRCm39)	missense	probably benign	0.27
R1808:Atp2a1	UTSW	7	126,052,573 (GRCm39)	missense	probably damaging	0.97
R2058:Atp2a1	UTSW	7	126,046,844 (GRCm39)	missense	possibly damaging	0.60
R2143:Atp2a1	UTSW	7	126,047,897 (GRCm39)	nonsense	probably null
R2427:Atp2a1	UTSW	7	126,045,755 (GRCm39)	makesense	probably null
R3113:Atp2a1	UTSW	7	126,047,541 (GRCm39)	missense	probably damaging	1.00
R4501:Atp2a1	UTSW	7	126,052,555 (GRCm39)	missense	probably benign	0.00
R4604:Atp2a1	UTSW	7	126,047,795 (GRCm39)	missense	probably damaging	0.96
R4934:Atp2a1	UTSW	7	126,052,600 (GRCm39)	missense	probably benign
R4939:Atp2a1	UTSW	7	126,049,288 (GRCm39)	missense	probably benign
R5646:Atp2a1	UTSW	7	126,052,277 (GRCm39)	missense	probably benign
R6093:Atp2a1	UTSW	7	126,046,093 (GRCm39)	missense	probably damaging	1.00
R6556:Atp2a1	UTSW	7	126,049,434 (GRCm39)	missense	probably benign	0.37
R6908:Atp2a1	UTSW	7	126,047,707 (GRCm39)	critical splice donor site	probably null
R6911:Atp2a1	UTSW	7	126,056,008 (GRCm39)	missense	probably damaging	1.00
R7206:Atp2a1	UTSW	7	126,047,144 (GRCm39)	missense	probably benign	0.01
R7354:Atp2a1	UTSW	7	126,048,028 (GRCm39)	missense	probably damaging	1.00
R7363:Atp2a1	UTSW	7	126,062,061 (GRCm39)	missense	possibly damaging	0.88
R7501:Atp2a1	UTSW	7	126,049,344 (GRCm39)	missense	probably benign	0.29
R7560:Atp2a1	UTSW	7	126,058,828 (GRCm39)	missense	possibly damaging	0.95
R7716:Atp2a1	UTSW	7	126,061,359 (GRCm39)	missense	possibly damaging	0.86
R7772:Atp2a1	UTSW	7	126,047,707 (GRCm39)	critical splice donor site	probably null
R8039:Atp2a1	UTSW	7	126,047,977 (GRCm39)	missense	probably damaging	0.99
R8391:Atp2a1	UTSW	7	126,047,888 (GRCm39)	missense	possibly damaging	0.94
R8478:Atp2a1	UTSW	7	126,047,502 (GRCm39)	missense	probably damaging	1.00
R9020:Atp2a1	UTSW	7	126,046,135 (GRCm39)	missense	probably benign
X0022:Atp2a1	UTSW	7	126,047,422 (GRCm39)	missense	possibly damaging	0.49
X0060:Atp2a1	UTSW	7	126,062,054 (GRCm39)	missense	probably benign	0.11

Posted On

2014-01-21