Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03249:Atp2a1'

414517

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 #

IGL03249

Quality Score

Status

Chromosome

Chromosomal Location

126045032-126062245 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 126061977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 40 (E40K)

Ref Sequence

ENSEMBL: ENSMUSP00000032974 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032974] [ENSMUST00000032978] [ENSMUST00000205340] [ENSMUST00000205440] [ENSMUST00000205497] [ENSMUST00000205733] [ENSMUST00000205889] [ENSMUST00000206664]

AlphaFold

Q8R429

Predicted Effect

probably benign
Transcript: ENSMUST00000032974
AA Change: E40K

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000032974
Gene: ENSMUSG00000030730
AA Change: E40K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000032978

SMART Domains

Protein: ENSMUSP00000032978
Gene: ENSMUSG00000030733

Domain	Start	End	E-Value	Type
Pfam:Phe_ZIP	25	81	4.6e-25	PFAM
low complexity region	83	99	N/A	INTRINSIC
low complexity region	133	151	N/A	INTRINSIC
low complexity region	156	168	N/A	INTRINSIC
low complexity region	195	205	N/A	INTRINSIC
PH	247	378	4.82e-7	SMART
low complexity region	447	460	N/A	INTRINSIC
low complexity region	466	483	N/A	INTRINSIC
SH2	525	610	2.84e-23	SMART
low complexity region	668	677	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205340

Predicted Effect

probably benign
Transcript: ENSMUST00000205440

Predicted Effect

probably benign
Transcript: ENSMUST00000205497

Predicted Effect

probably benign
Transcript: ENSMUST00000205733

Predicted Effect

probably benign
Transcript: ENSMUST00000205889

Predicted Effect

probably benign
Transcript: ENSMUST00000206664

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	A	G	7: 43,900,149 (GRCm39)	Y18C	probably damaging	Het
Abcc4	A	G	14: 118,865,118 (GRCm39)		probably benign	Het
Acnat2	T	C	4: 49,381,787 (GRCm39)	K202E	probably benign	Het
Aoc1l3	A	T	6: 48,965,303 (GRCm39)	H437L	probably benign	Het
Arid2	A	T	15: 96,299,846 (GRCm39)	R1786S	probably damaging	Het
Cdc23	A	G	18: 34,777,069 (GRCm39)		probably benign	Het
Ctnnd2	A	G	15: 30,683,382 (GRCm39)	D461G	probably benign	Het
Galntl6	G	T	8: 58,230,210 (GRCm39)		probably benign	Het
Gcc2	T	A	10: 58,106,814 (GRCm39)	Y583*	probably null	Het
Or11g7	T	C	14: 50,690,668 (GRCm39)	V53A	probably damaging	Het
Plekhg2	C	A	7: 28,067,427 (GRCm39)	R281L	probably damaging	Het
Rbm27	A	G	18: 42,434,812 (GRCm39)	D292G	probably damaging	Het
Ryr3	A	T	2: 112,471,001 (GRCm39)	M4594K	probably benign	Het
Sec22a	T	C	16: 35,168,133 (GRCm39)	Y126C	probably damaging	Het
Svopl	T	C	6: 37,993,988 (GRCm39)	T348A	probably benign	Het
Tecta	T	C	9: 42,303,182 (GRCm39)	E150G	probably benign	Het
Ttc8	T	G	12: 98,910,080 (GRCm39)		probably benign	Het
Zfp51	T	A	17: 21,683,701 (GRCm39)	N105K	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
IGL01679:Atp2a1	APN	7	126,055,981 (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
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

2016-08-02