Mutagenetix > Incidental Mutations

Incidental Mutation 'R1799:Atp2a1'

202940

Institutional Source

Beutler Lab

Gene Symbol

Atp2a1

Ensembl Gene

ENSMUSG00000030730

Gene Name

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

Synonyms

SERCA1

MMRRC Submission

039829-MU

Accession Numbers

Genbank: NM_007504.2; Ensembl: ENSMUST00000032974

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1799 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126445858-126463108 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126450142 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 576 (M576K)

Ref Sequence

ENSEMBL: ENSMUSP00000032974 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032974] [ENSMUST00000106405] [ENSMUST00000106407]

Predicted Effect

probably benign
Transcript: ENSMUST00000032974
AA Change: M576K

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000032974
Gene: ENSMUSG00000030730
AA Change: M576K

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: ENSMUST00000106405

SMART Domains

Protein: ENSMUSP00000102013
Gene: ENSMUSG00000030727

Domain	Start	End	E-Value	Type
Pfam:Rabaptin	2	107	1.4e-41	PFAM
low complexity region	139	158	N/A	INTRINSIC
low complexity region	175	194	N/A	INTRINSIC
Pfam:Rabaptin	196	311	5.9e-10	PFAM
Pfam:Rab5-bind	289	456	4.6e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106407

SMART Domains

Protein: ENSMUSP00000102015
Gene: ENSMUSG00000030727

Domain	Start	End	E-Value	Type
Pfam:Rabaptin	13	171	1.4e-39	PFAM
low complexity region	182	201	N/A	INTRINSIC
low complexity region	218	237	N/A	INTRINSIC
Pfam:Rab5-bind	274	487	4.1e-21	PFAM
Pfam:Rab5-bind	469	531	1.6e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133300

Predicted Effect

probably benign
Transcript: ENSMUST00000146973

SMART Domains

Protein: ENSMUSP00000119018
Gene: ENSMUSG00000030730

Domain	Start	End	E-Value	Type
Pfam:Cation_ATPase_C	6	132	6.3e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151304

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

Validation Efficiency

MGI Phenotype

Lethality: D1
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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,234,576	L271P	probably benign	Het
Adamts3	A	C	5: 89,775,421	D175E	probably benign	Het
Adcy4	T	C	14: 55,771,472	T833A	probably benign	Het
Adgrf5	A	T	17: 43,440,067	I508F	probably damaging	Het
AI481877	A	T	4: 59,099,383	V103D	possibly damaging	Het
Arhgap9	G	T	10: 127,327,724	V464L	probably damaging	Het
Atp10a	T	A	7: 58,824,434	D1156E	probably damaging	Het
Atrx	T	C	X: 105,847,629	Q1536R	probably damaging	Het
Ccdc141	A	C	2: 77,011,671	V1472G	possibly damaging	Het
Cd84	A	G	1: 171,872,750	T145A	possibly damaging	Het
Celsr1	G	T	15: 86,032,685	N362K	probably damaging	Het
Cep290	G	A	10: 100,516,196	A755T	probably benign	Het
Cfap70	T	A	14: 20,394,999	E1071V	probably damaging	Het
Cps1	T	C	1: 67,209,642	V1176A	probably damaging	Het
Csf2rb2	A	C	15: 78,297,068	N41K	probably damaging	Het
Csn1s2a	G	A	5: 87,778,193	V43M	probably damaging	Het
Cyp26b1	T	C	6: 84,584,272	D136G	probably benign	Het
Cyp7b1	A	G	3: 18,097,452	L199P	probably benign	Het
Dapk1	C	T	13: 60,719,654	T225I	probably damaging	Het
Dio2	T	A	12: 90,729,906	T103S	probably benign	Het
Dnhd1	T	A	7: 105,655,767	S339T	probably benign	Het
Drc1	A	G	5: 30,366,497	N737D	probably damaging	Het
Efhc1	C	T	1: 20,979,538	P541S	probably benign	Het
Elmo2	A	T	2: 165,292,157	I637N	probably damaging	Het
Eps15	T	A	4: 109,382,837	D492E	probably damaging	Het
Ermn	G	T	2: 58,048,237	N121K	probably benign	Het
F5	A	G	1: 164,193,531	T1192A	possibly damaging	Het
Fam69a	C	A	5: 107,909,847	V237F	probably damaging	Het
Fbxo22	T	C	9: 55,223,487	F347L	probably benign	Het
Fbxw15	G	A	9: 109,558,246	S227F	probably damaging	Het
Foxj3	A	G	4: 119,619,351	N242S	probably benign	Het
Gjb3	G	A	4: 127,326,431	R103W	probably damaging	Het
Grm4	A	G	17: 27,472,940	V235A	probably damaging	Het
Gstm4	T	C	3: 108,043,558	N74S	probably damaging	Het
Gtf3c3	A	G	1: 54,420,424	V393A	possibly damaging	Het
Hltf	T	A	3: 20,105,691	L702H	probably damaging	Het
Inpp4a	T	A	1: 37,392,978	V153E	possibly damaging	Het
Kmt5c	T	C	7: 4,742,730		probably null	Het
Kynu	A	G	2: 43,604,157	R201G	possibly damaging	Het
Lrp2	T	A	2: 69,503,530	T1456S	probably benign	Het
Lrrc40	G	A	3: 158,036,804	V19I	probably benign	Het
M1ap	T	A	6: 83,005,510	C258*	probably null	Het
Man2a1	C	T	17: 64,669,497	R427W	probably damaging	Het
Man2a1	T	C	17: 64,752,457	L1113P	probably benign	Het
Meikin	C	A	11: 54,417,787	Q404K	probably benign	Het
Mfsd4a	T	C	1: 132,053,596	I222V	possibly damaging	Het
Mpp6	T	A	6: 50,196,545	M463K	probably damaging	Het
N4bp2	A	G	5: 65,806,825	N739S	possibly damaging	Het
Ncoa2	A	T	1: 13,162,293		probably null	Het
Nisch	G	T	14: 31,177,271		probably benign	Het
Nmur2	A	G	11: 56,029,621	V266A	probably damaging	Het
Npcd	G	A	15: 79,828,786	R147C	probably damaging	Het
Olfr209	T	A	16: 59,361,880	I113F	probably benign	Het
Olfr735	T	A	14: 50,346,080	M121L	probably benign	Het
Parp4	A	T	14: 56,648,132	H1556L	unknown	Het
Pcdh9	G	T	14: 93,888,671	A21E	probably benign	Het
Phtf1	A	G	3: 103,996,642	E436G	probably benign	Het
Piezo2	C	A	18: 63,032,840		probably null	Het
Piezo2	T	C	18: 63,108,087	Y690C	probably damaging	Het
Pla2g4f	T	C	2: 120,311,068	R183G	possibly damaging	Het
Plxnd1	T	C	6: 115,994,057	D250G	probably damaging	Het
Ppig	A	G	2: 69,749,400	D426G	unknown	Het
Ppp3cb	T	C	14: 20,524,472	E185G	possibly damaging	Het
Qsox1	A	T	1: 155,794,618	M151K	probably null	Het
Ralgapa2	T	C	2: 146,342,728	E1453G	probably benign	Het
Rnf167	G	A	11: 70,650,012	V191I	probably benign	Het
Rp1	T	C	1: 4,348,832	K686E	possibly damaging	Het
Ryr1	T	G	7: 29,067,621	Q2979P	probably damaging	Het
Scaf1	T	A	7: 45,008,019	I479F	probably damaging	Het
Sept8	A	G	11: 53,534,483	T68A	probably benign	Het
Sh3rf1	A	T	8: 61,372,627	N552I	probably damaging	Het
Slc1a3	A	G	15: 8,688,404	L68P	probably damaging	Het
Slc39a6	G	A	18: 24,585,467	P511L	probably benign	Het
Slc9c1	A	G	16: 45,554,289	Y339C	probably damaging	Het
Smarcal1	G	T	1: 72,585,961	C89F	probably damaging	Het
Smu1	A	T	4: 40,745,537	M261K	probably damaging	Het
Spag8	T	G	4: 43,653,087		probably benign	Het
Spag8	T	C	4: 43,653,345		probably benign	Het
Spata31d1a	T	C	13: 59,703,402	D304G	probably benign	Het
Spdl1	A	T	11: 34,821,029	L298*	probably null	Het
Stac2	C	T	11: 98,039,618		probably null	Het
Stag1	A	G	9: 100,953,462		probably null	Het
Stpg2	C	T	3: 139,419,781	P445L	probably damaging	Het
Sult2a8	A	T	7: 14,423,526	V128E	probably damaging	Het
Synm	A	G	7: 67,735,959	F210L	probably damaging	Het
Tbck	C	G	3: 132,774,502	A714G	probably benign	Het
Tcerg1	A	T	18: 42,560,947	Y711F	possibly damaging	Het
Tnfrsf25	A	G	4: 152,117,008	T98A	probably benign	Het
Togaram2	T	C	17: 71,691,455	S218P	probably damaging	Het
Tpp1	A	T	7: 105,750,308	D84E	probably benign	Het
Trim30d	G	T	7: 104,483,475	Q202K	probably damaging	Het
Trim37	T	A	11: 87,178,019	V397E	probably damaging	Het
Triml1	A	T	8: 43,130,475	I363N	probably damaging	Het
Trpm6	T	A	19: 18,891,999		probably null	Het
Tsc2	T	C	17: 24,604,408	S1055G	probably benign	Het
Ubr5	T	C	15: 37,989,377	D2065G	probably damaging	Het
Uggt2	G	T	14: 119,032,276	P948Q	probably benign	Het
Vps13c	A	T	9: 67,944,117	S2345C	probably damaging	Het
Wtap	G	T	17: 12,980,884	R48S	possibly damaging	Het
Zbtb38	A	G	9: 96,688,881	V50A	probably damaging	Het
Zcchc2	T	A	1: 106,030,287	S829R	probably benign	Het
Zfp385b	T	C	2: 77,415,972	D237G	probably benign	Het

Other mutations in Atp2a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Atp2a1	APN	7	126447216	nonsense	probably null
IGL00474:Atp2a1	APN	7	126450294	nonsense	probably null
IGL00500:Atp2a1	APN	7	126447216	nonsense	probably null
IGL01112:Atp2a1	APN	7	126450307	missense	probably benign	0.13
IGL01380:Atp2a1	APN	7	126448770	missense	possibly damaging	0.84
IGL01503:Atp2a1	APN	7	126448578	missense	probably damaging	1.00
IGL01630:Atp2a1	APN	7	126450265	missense	probably benign	0.00
IGL01679:Atp2a1	APN	7	126456809	missense	probably benign	0.00
IGL01729:Atp2a1	APN	7	126457934	missense	probably damaging	0.99
IGL02290:Atp2a1	APN	7	126452649	splice site	probably benign
IGL02929:Atp2a1	APN	7	126456944	missense	probably damaging	1.00
IGL02951:Atp2a1	APN	7	126450227	missense	possibly damaging	0.58
IGL03249:Atp2a1	APN	7	126462805	missense	probably benign	0.12
1mM(1):Atp2a1	UTSW	7	126446909	missense	probably damaging	1.00
R0052:Atp2a1	UTSW	7	126457897	splice site	probably benign
R0052:Atp2a1	UTSW	7	126457897	splice site	probably benign
R0070:Atp2a1	UTSW	7	126447452	missense	probably benign	0.03
R0070:Atp2a1	UTSW	7	126447452	missense	probably benign	0.03
R0121:Atp2a1	UTSW	7	126457944	missense	probably damaging	1.00
R0398:Atp2a1	UTSW	7	126450418	unclassified	probably benign
R0578:Atp2a1	UTSW	7	126450143	missense	probably benign
R0626:Atp2a1	UTSW	7	126446990	critical splice acceptor site	probably null
R0739:Atp2a1	UTSW	7	126448256	missense	possibly damaging	0.87
R1558:Atp2a1	UTSW	7	126452672	missense	possibly damaging	0.88
R1700:Atp2a1	UTSW	7	126462909	missense	probably damaging	1.00
R1748:Atp2a1	UTSW	7	126459608	missense	possibly damaging	0.67
R1808:Atp2a1	UTSW	7	126453401	missense	probably damaging	0.97
R2058:Atp2a1	UTSW	7	126447672	missense	possibly damaging	0.60
R2143:Atp2a1	UTSW	7	126448725	nonsense	probably null
R2427:Atp2a1	UTSW	7	126446583	makesense	probably null
R3113:Atp2a1	UTSW	7	126448369	missense	probably damaging	1.00
R4501:Atp2a1	UTSW	7	126453383	missense	probably benign	0.00
R4604:Atp2a1	UTSW	7	126448623	missense	probably damaging	0.96
R4934:Atp2a1	UTSW	7	126453428	missense	probably benign
R4939:Atp2a1	UTSW	7	126450116	missense	probably benign
R5646:Atp2a1	UTSW	7	126453105	missense	probably benign
R6093:Atp2a1	UTSW	7	126446921	missense	probably damaging	1.00
R6556:Atp2a1	UTSW	7	126450262	missense	probably benign	0.37
R6908:Atp2a1	UTSW	7	126448535	critical splice donor site	probably null
R6911:Atp2a1	UTSW	7	126456836	missense	probably damaging	1.00
R7206:Atp2a1	UTSW	7	126447972	missense	probably benign	0.01
R7354:Atp2a1	UTSW	7	126448856	missense	probably damaging	1.00
R7363:Atp2a1	UTSW	7	126462889	missense	possibly damaging	0.88
R7501:Atp2a1	UTSW	7	126450172	missense	probably benign	0.29
R7560:Atp2a1	UTSW	7	126459656	missense	possibly damaging	0.95
R7716:Atp2a1	UTSW	7	126462187	missense	possibly damaging	0.86
R7772:Atp2a1	UTSW	7	126448535	critical splice donor site	probably null
R8039:Atp2a1	UTSW	7	126448805	missense	probably damaging	0.99
R8391:Atp2a1	UTSW	7	126448716	missense	possibly damaging	0.94
R8478:Atp2a1	UTSW	7	126448330	missense	probably damaging	1.00
X0022:Atp2a1	UTSW	7	126448250	missense	possibly damaging	0.49
X0060:Atp2a1	UTSW	7	126462882	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- ACAGGACACAGCCGTTCATC -3'
(R):5'- TTCTGAACCCTGGAAGGCAG -3'

Sequencing Primer
(F):5'- GTTCATCTGACACACTGTACTAGGG -3'
(R):5'- CAGGCAGGGATCTCGGAATTCTG -3'

Posted On

2014-06-23