Mutagenetix > Incidental Mutation

Incidental Mutation 'R4939:Atp2a1'

382926

Institutional Source

Beutler Lab

Gene Symbol

Atp2a1

Ensembl Gene

ENSMUSG00000030730

Gene Name

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

Synonyms

SERCA1

MMRRC Submission

042538-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4939 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126045032-126062245 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126049288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 585 (M585V)

Ref Sequence

ENSEMBL: ENSMUSP00000032974 (fasta)

Gene Model

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

AlphaFold

Q8R429

Predicted Effect

probably benign
Transcript: ENSMUST00000032974
AA Change: M585V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032974
Gene: ENSMUSG00000030730
AA Change: M585V

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	T	4: 86,161,962 (GRCm39)	Y365F	possibly damaging	Het
Brca1	A	G	11: 101,398,876 (GRCm39)	V1572A	probably benign	Het
C1ql4	A	T	15: 98,985,521 (GRCm39)	M30K	probably damaging	Het
Ccdc73	A	G	2: 104,822,502 (GRCm39)		probably null	Het
Cdk6	A	T	5: 3,394,377 (GRCm39)	D4V	probably null	Het
Celf3	ACAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCA	3: 94,395,537 (GRCm39)		probably benign	Het
Clic4	T	C	4: 134,950,852 (GRCm39)	E113G	probably benign	Het
Creld1	C	A	6: 113,465,140 (GRCm39)	H122Q	probably benign	Het
Cyp4a29	G	A	4: 115,104,873 (GRCm39)		probably null	Het
Dnaaf3	A	T	7: 4,530,144 (GRCm39)	S246R	probably damaging	Het
Dnah12	A	T	14: 26,613,481 (GRCm39)	T3925S	probably damaging	Het
Dnajc21	T	A	15: 10,449,683 (GRCm39)	D446V	probably damaging	Het
Dock8	A	T	19: 25,099,764 (GRCm39)	Y629F	probably damaging	Het
Duxf4	T	C	10: 58,071,425 (GRCm39)	N263S	probably benign	Het
E2f8	A	T	7: 48,521,886 (GRCm39)	N405K	probably benign	Het
Flg	A	G	3: 93,187,154 (GRCm39)	N202S	probably benign	Het
Glyatl3	A	G	17: 41,220,914 (GRCm39)		probably null	Het
Gm38999	A	G	7: 43,077,885 (GRCm39)	T63A	possibly damaging	Het
Grap	A	G	11: 61,551,124 (GRCm39)	Y52C	probably damaging	Het
Haus2	T	A	2: 120,449,517 (GRCm39)	I187K	probably damaging	Het
Heatr5b	T	C	17: 79,069,689 (GRCm39)	E1686G	probably benign	Het
Herc2	A	G	7: 55,856,484 (GRCm39)	D3944G	probably damaging	Het
Hexd	A	T	11: 121,098,542 (GRCm39)	M9L	probably benign	Het
Hoxa3	T	C	6: 52,147,656 (GRCm39)		probably benign	Het
Hspg2	A	T	4: 137,235,342 (GRCm39)	I126F	probably damaging	Het
Itpr1	T	A	6: 108,417,519 (GRCm39)	C123*	probably null	Het
Jmjd1c	T	A	10: 67,081,916 (GRCm39)	N2346K	possibly damaging	Het
Kctd9	A	G	14: 67,967,135 (GRCm39)	Y37C	probably damaging	Het
Kmt5b	A	C	19: 3,865,245 (GRCm39)	S747R	possibly damaging	Het
Krt26	T	C	11: 99,225,522 (GRCm39)	M320V	probably benign	Het
Lama1	T	G	17: 68,044,470 (GRCm39)	V123G	possibly damaging	Het
Lamc2	T	C	1: 153,002,582 (GRCm39)	D1103G	probably damaging	Het
Lepr	A	T	4: 101,590,635 (GRCm39)	K71I	possibly damaging	Het
Llgl1	A	T	11: 60,600,805 (GRCm39)		probably null	Het
Mcoln2	A	T	3: 145,897,996 (GRCm39)	H39L	probably benign	Het
Mtrex	T	C	13: 113,046,426 (GRCm39)	D308G	possibly damaging	Het
Myh11	T	A	16: 14,057,371 (GRCm39)	T315S	probably benign	Het
Ncapd3	T	C	9: 26,975,165 (GRCm39)		probably null	Het
Nlrp9b	G	T	7: 19,758,421 (GRCm39)	V553F	probably damaging	Het
Nubpl	A	G	12: 52,227,878 (GRCm39)	N129S	probably damaging	Het
Nup214	C	A	2: 31,873,171 (GRCm39)	T255K	probably benign	Het
Or10j3	T	C	1: 173,031,030 (GRCm39)	Y36H	possibly damaging	Het
Or2t46	G	T	11: 58,472,037 (GRCm39)	M122I	probably damaging	Het
Or2y17	A	G	11: 49,231,376 (GRCm39)	T6A	probably benign	Het
Or4d1	G	T	11: 87,804,950 (GRCm39)	P261T	probably damaging	Het
Or52z14	T	C	7: 103,253,458 (GRCm39)	V199A	probably benign	Het
Or5b3	T	A	19: 13,388,219 (GRCm39)	N95K	probably benign	Het
Orc3	G	A	4: 34,593,126 (GRCm39)	Q256*	probably null	Het
Pbrm1	A	G	14: 30,783,580 (GRCm39)	M566V	probably damaging	Het
Pde6b	A	G	5: 108,569,363 (GRCm39)	I357V	probably benign	Het
Pkdrej	A	G	15: 85,704,484 (GRCm39)	I484T	possibly damaging	Het
Plvap	A	G	8: 71,964,083 (GRCm39)	V93A	probably benign	Het
Plxna4	T	C	6: 32,142,697 (GRCm39)	Y1586C	probably damaging	Het
Ppfia4	A	T	1: 134,255,817 (GRCm39)	L196Q	possibly damaging	Het
Ptpn13	T	G	5: 103,665,335 (GRCm39)		probably null	Het
Ranbp17	T	C	11: 33,169,223 (GRCm39)	N997S	probably benign	Het
Rpap2	G	T	5: 107,751,491 (GRCm39)		probably null	Het
Rrm1	T	C	7: 102,116,131 (GRCm39)	V683A	probably benign	Het
Ruvbl1	A	G	6: 88,460,021 (GRCm39)		probably null	Het
Sh3pxd2a	A	G	19: 47,266,843 (GRCm39)	Y277H	probably damaging	Het
Shank1	C	T	7: 43,975,586 (GRCm39)	P477S	unknown	Het
Shtn1	T	C	19: 59,010,633 (GRCm39)	E278G	probably benign	Het
Skap2	T	A	6: 51,899,303 (GRCm39)	I109F	possibly damaging	Het
Slc28a3	A	C	13: 58,706,395 (GRCm39)	I615M	probably benign	Het
Slc4a11	A	G	2: 130,526,788 (GRCm39)	L780P	probably damaging	Het
Slc5a4b	T	C	10: 75,917,301 (GRCm39)	E245G	probably benign	Het
Slfn8	C	T	11: 82,894,111 (GRCm39)	A843T	probably benign	Het
Sncaip	A	T	18: 53,040,335 (GRCm39)	Q843L	possibly damaging	Het
Spidr	T	A	16: 15,958,610 (GRCm39)	K51*	probably null	Het
Spopfm2	A	T	3: 94,083,540 (GRCm39)	Y90*	probably null	Het
Tas2r123	T	C	6: 132,824,808 (GRCm39)	V235A	probably benign	Het
Tgfbr3	T	C	5: 107,278,335 (GRCm39)	D757G	probably benign	Het
Tmem132d	A	T	5: 127,873,139 (GRCm39)	V490D	probably damaging	Het
Top2a	T	A	11: 98,900,918 (GRCm39)	H557L	probably damaging	Het
Trafd1	A	G	5: 121,513,254 (GRCm39)	I328T	probably benign	Het
Trappc11	G	A	8: 47,972,700 (GRCm39)	A291V	probably damaging	Het
Tuba1c	A	G	15: 98,935,835 (GRCm39)	Y432C	probably damaging	Het
Utp11	T	G	4: 124,577,043 (GRCm39)	R109S	possibly damaging	Het
Vmn1r159	T	G	7: 22,542,316 (GRCm39)	T239P	probably damaging	Het
Vwce	A	T	19: 10,622,414 (GRCm39)	N239Y	probably damaging	Het
Yes1	T	C	5: 32,802,457 (GRCm39)		probably null	Het
Zfand6	A	C	7: 84,265,030 (GRCm39)	*224G	probably null	Het
Zfp408	A	T	2: 91,475,450 (GRCm39)	I668N	probably damaging	Het
Zfp647	TGCACG	TGCACGCACG	15: 76,795,244 (GRCm39)		probably null	Het
Zfp946	T	C	17: 22,674,418 (GRCm39)	F391L	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
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
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'- AGCTACTGAGTCTGACTGGG -3'
(R):5'- GACCGCTGTAACTATGTGCGTG -3'

Sequencing Primer
(F):5'- TTCATGAAACCGTCACACCTTCATG -3'
(R):5'- CTGTAACTATGTGCGTGTTGGC -3'

Posted On

2016-04-27