Mutagenetix > Incidental Mutation

Incidental Mutation 'R2058:Atp2a1'

228370

Institutional Source

Beutler Lab

Gene Symbol

Atp2a1

Ensembl Gene

ENSMUSG00000030730

Gene Name

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

Synonyms

SERCA1

MMRRC Submission

040063-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2058 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126045032-126062245 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 126046844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 847 (A847V)

Ref Sequence

ENSEMBL: ENSMUSP00000032974 (fasta)

Gene Model

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

AlphaFold

Q8R429

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032974
AA Change: A847V

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000032974
Gene: ENSMUSG00000030730
AA Change: A847V

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: ENSMUST00000148536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151304

Meta Mutation Damage Score

0.1036

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

99% (94/95)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	A	T	8: 25,162,082 (GRCm39)		probably benign	Het
Adgrf5	A	G	17: 43,739,477 (GRCm39)	Y72C	possibly damaging	Het
Alas1	T	C	9: 106,118,489 (GRCm39)	E211G	probably damaging	Het
Alkbh1	C	T	12: 87,490,520 (GRCm39)		probably benign	Het
Ano1	A	G	7: 144,201,789 (GRCm39)	V334A	probably damaging	Het
Arhgap18	C	T	10: 26,730,904 (GRCm39)	T122I	probably benign	Het
Arhgef4	A	G	1: 34,761,458 (GRCm39)	K238R	unknown	Het
Atf6b	A	T	17: 34,867,549 (GRCm39)		probably null	Het
Baz1b	T	A	5: 135,246,079 (GRCm39)	N509K	probably benign	Het
BC051076	A	T	5: 88,111,844 (GRCm39)		noncoding transcript	Het
Cage1	A	G	13: 38,207,356 (GRCm39)	V163A	probably benign	Het
Canx	T	C	11: 50,195,252 (GRCm39)	N272S	probably damaging	Het
Cd302	T	A	2: 60,082,767 (GRCm39)	I186F	possibly damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cep112	T	A	11: 108,410,087 (GRCm39)		probably null	Het
Cmtm4	A	C	8: 105,081,920 (GRCm39)	F156V	probably damaging	Het
Col4a1	T	A	8: 11,260,792 (GRCm39)	D1330V	probably damaging	Het
Ctsa	T	G	2: 164,676,822 (GRCm39)	M136R	probably null	Het
Cyp2d10	T	A	15: 82,288,015 (GRCm39)	I363F	probably damaging	Het
Dmbt1	G	A	7: 130,707,900 (GRCm39)	A1381T	possibly damaging	Het
Dmwd	T	A	7: 18,814,652 (GRCm39)	L434Q	probably damaging	Het
Fat4	T	A	3: 38,945,319 (GRCm39)	M1404K	possibly damaging	Het
Gcc2	T	A	10: 58,121,779 (GRCm39)	S1102T	probably benign	Het
Gcm2	T	C	13: 41,263,430 (GRCm39)	M1V	probably null	Het
Gna14	G	C	19: 16,585,505 (GRCm39)		probably benign	Het
Gsk3b	T	A	16: 38,008,271 (GRCm39)	D192E	probably benign	Het
Gulo	A	G	14: 66,228,608 (GRCm39)	V270A	possibly damaging	Het
Hps5	T	A	7: 46,417,475 (GRCm39)	D904V	probably damaging	Het
Il7	A	T	3: 7,638,975 (GRCm39)	N130K	probably damaging	Het
Jak3	A	T	8: 72,138,027 (GRCm39)		probably null	Het
Klhl6	T	G	16: 19,801,681 (GRCm39)	T25P	probably benign	Het
Kremen2	T	C	17: 23,961,691 (GRCm39)	E272G	possibly damaging	Het
Map3k21	A	G	8: 126,665,461 (GRCm39)	K550R	probably benign	Het
Mphosph10	T	A	7: 64,026,499 (GRCm39)	L650F	probably damaging	Het
Mrpl48	T	C	7: 100,198,540 (GRCm39)	E204G	probably damaging	Het
Msh5	A	C	17: 35,248,732 (GRCm39)	V738G	probably damaging	Het
Mybph	G	A	1: 134,127,857 (GRCm39)	C473Y	probably damaging	Het
Nid1	A	C	13: 13,675,058 (GRCm39)	H926P	probably benign	Het
Nlrp9a	T	A	7: 26,256,787 (GRCm39)	I46K	possibly damaging	Het
Notch3	T	C	17: 32,362,618 (GRCm39)	T1336A	probably benign	Het
Nsun4	T	C	4: 115,910,877 (GRCm39)		probably null	Het
Or1e30	A	G	11: 73,678,100 (GRCm39)	N112S	probably benign	Het
Or5m10	A	T	2: 85,717,296 (GRCm39)	T51S	possibly damaging	Het
Osgin1	A	G	8: 120,172,412 (GRCm39)	D402G	possibly damaging	Het
Patl1	A	G	19: 11,909,511 (GRCm39)	E479G	possibly damaging	Het
Pbsn	T	C	X: 76,891,582 (GRCm39)	K72E	probably damaging	Het
Pcdhb13	A	G	18: 37,577,620 (GRCm39)	Q666R	possibly damaging	Het
Pi4k2b	G	A	5: 52,908,022 (GRCm39)	V131I	probably benign	Het
Pkn2	G	A	3: 142,559,232 (GRCm39)	H98Y	possibly damaging	Het
Pms1	A	G	1: 53,314,327 (GRCm39)	Y73H	probably benign	Het
Ppt2	A	T	17: 34,841,818 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,545,469 (GRCm39)	T1862A	probably benign	Het
Prl6a1	T	C	13: 27,503,081 (GRCm39)	Y231H	probably benign	Het
Ranbp3l	T	A	15: 9,029,641 (GRCm39)	V41D	probably damaging	Het
Rhobtb2	T	C	14: 70,031,488 (GRCm39)	T546A	possibly damaging	Het
Ripk4	A	T	16: 97,545,342 (GRCm39)	L372*	probably null	Het
Rnf126	A	G	10: 79,594,971 (GRCm39)		probably benign	Het
S100pbp	A	G	4: 129,075,893 (GRCm39)	V144A	probably benign	Het
Saal1	T	C	7: 46,348,880 (GRCm39)	Q317R	probably damaging	Het
Sap25	G	A	5: 137,641,034 (GRCm39)	G277R	probably damaging	Het
Senp2	C	T	16: 21,832,949 (GRCm39)	T79I	probably damaging	Het
Serpinb9c	A	T	13: 33,340,854 (GRCm39)	C81*	probably null	Het
Set	A	G	2: 29,959,048 (GRCm39)	K70E	possibly damaging	Het
Setd3	A	G	12: 108,073,600 (GRCm39)	I559T	probably benign	Het
Sik1	A	G	17: 32,067,771 (GRCm39)	S435P	probably benign	Het
Skint3	A	T	4: 112,112,980 (GRCm39)	K197*	probably null	Het
Skint5	T	A	4: 113,727,897 (GRCm39)	I402F	possibly damaging	Het
Slc18a1	G	A	8: 69,496,613 (GRCm39)	T350M	probably damaging	Het
Slc19a3	A	T	1: 82,992,512 (GRCm39)	I403K	probably damaging	Het
Slc1a7	C	T	4: 107,861,636 (GRCm39)	T225I	probably benign	Het
Slc38a4	T	C	15: 96,906,606 (GRCm39)	I336V	probably benign	Het
Smarcc1	A	G	9: 109,947,411 (GRCm39)		probably benign	Het
St8sia5	A	T	18: 77,342,459 (GRCm39)	I390F	probably damaging	Het
Strc	A	T	2: 121,209,368 (GRCm39)	W290R	probably damaging	Het
Svep1	T	C	4: 58,084,554 (GRCm39)	D1858G	possibly damaging	Het
Sympk	G	A	7: 18,777,454 (GRCm39)	R568Q	probably damaging	Het
Tex44	A	C	1: 86,354,728 (GRCm39)	K212N	probably damaging	Het
Tgm4	T	C	9: 122,890,835 (GRCm39)	I54T	probably damaging	Het
Thrap3	C	T	4: 126,073,967 (GRCm39)	V260I	probably damaging	Het
Thsd7a	A	T	6: 12,318,105 (GRCm39)		probably benign	Het
Trim12c	A	G	7: 103,997,398 (GRCm39)	F53L	possibly damaging	Het
Ttc6	T	A	12: 57,784,479 (GRCm39)	D1849E	probably benign	Het
Ubap2l	A	T	3: 89,938,683 (GRCm39)		probably benign	Het
Umodl1	G	A	17: 31,227,740 (GRCm39)		probably null	Het
Usp17la	A	C	7: 104,510,378 (GRCm39)	T328P	probably damaging	Het
Vmn2r113	T	A	17: 23,177,223 (GRCm39)	L669*	probably null	Het
Vps13b	T	A	15: 35,841,593 (GRCm39)	V2541E	probably damaging	Het
Wnt3	T	C	11: 103,703,111 (GRCm39)	I198T	probably damaging	Het
Zfp316	T	C	5: 143,249,161 (GRCm39)	E158G	unknown	Het
Zfp362	T	G	4: 128,680,780 (GRCm39)	I182L	possibly damaging	Het
Zfp804a	A	G	2: 82,087,710 (GRCm39)	D513G	probably benign	Het
Zfp879	C	T	11: 50,723,428 (GRCm39)	E543K	probably benign	Het
Zfp97	T	A	17: 17,365,018 (GRCm39)	N172K	possibly damaging	Het
Zmym6	A	T	4: 126,982,208 (GRCm39)	K82*	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- CGAATTCAGGGTTGTGCTCAG -3'
(R):5'- TTCCGCTACATGGCAATTGG -3'

Sequencing Primer
(F):5'- CTCAGTGCACTGCATGAAATGAGTC -3'
(R):5'- CTACATGGCAATTGGGGGTAAGC -3'

Posted On

2014-09-17