Mutagenetix > Incidental Mutation

Incidental Mutation 'R0626:Atp2a1'

57498

Institutional Source

Beutler Lab

Gene Symbol

Atp2a1

Ensembl Gene

ENSMUSG00000030730

Gene Name

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

Synonyms

SERCA1

MMRRC Submission

038815-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0626 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126045032-126062245 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 126046162 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q8R429

Predicted Effect

probably null
Transcript: ENSMUST00000032974

SMART Domains

Protein: ENSMUSP00000032974
Gene: ENSMUSG00000030730

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 null
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

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	C	11: 109,679,547 (GRCm39)		probably benign	Het
6430571L13Rik	T	A	9: 107,219,707 (GRCm39)	D53E	possibly damaging	Het
A2ml1	T	A	6: 128,527,736 (GRCm39)	N1018I	probably damaging	Het
Abi3	C	A	11: 95,727,937 (GRCm39)	A85S	probably benign	Het
Acsl5	A	T	19: 55,272,904 (GRCm39)	M340L	probably benign	Het
Adam29	T	A	8: 56,324,612 (GRCm39)	H614L	probably benign	Het
Adgrg6	A	T	10: 14,312,628 (GRCm39)	S720T	probably damaging	Het
Adrb2	G	T	18: 62,312,441 (GRCm39)	A128E	probably damaging	Het
Afap1l1	T	C	18: 61,872,291 (GRCm39)	E510G	probably benign	Het
Angel1	A	G	12: 86,764,487 (GRCm39)		probably null	Het
Aox3	T	G	1: 58,211,458 (GRCm39)	I1005S	possibly damaging	Het
Apc	C	A	18: 34,451,507 (GRCm39)	P2767Q	probably damaging	Het
Apob	T	G	12: 8,066,193 (GRCm39)	D4387E	probably benign	Het
Apobr	T	C	7: 126,185,827 (GRCm39)	V446A	possibly damaging	Het
Arhgap28	A	T	17: 68,203,108 (GRCm39)		probably null	Het
Aspm	G	T	1: 139,419,339 (GRCm39)	K3001N	probably damaging	Het
Asxl3	G	T	18: 22,655,937 (GRCm39)	V1316F	probably benign	Het
Bach1	A	G	16: 87,526,359 (GRCm39)	D607G	possibly damaging	Het
Batf3	A	G	1: 190,832,935 (GRCm39)	D27G	probably damaging	Het
Baz1a	G	T	12: 55,022,055 (GRCm39)	Q76K	probably damaging	Het
Bdnf	G	A	2: 109,553,883 (GRCm39)	V86M	probably benign	Het
Birc7	A	G	2: 180,573,098 (GRCm39)	I172V	probably benign	Het
Bod1l	A	C	5: 41,988,880 (GRCm39)	V409G	probably damaging	Het
Cacna1e	T	A	1: 154,364,563 (GRCm39)	E337V	probably damaging	Het
Cacna1h	A	G	17: 25,612,520 (GRCm39)	F287L	possibly damaging	Het
Ces1e	A	G	8: 93,950,671 (GRCm39)	Y37H	probably benign	Het
Clasrp	A	T	7: 19,318,418 (GRCm39)		probably benign	Het
Clec2d	T	A	6: 129,160,090 (GRCm39)	S35T	probably damaging	Het
Cntn4	T	A	6: 106,639,539 (GRCm39)	D556E	probably benign	Het
Cntnap5c	A	T	17: 58,349,422 (GRCm39)	D245V	probably benign	Het
Col5a1	T	A	2: 27,818,255 (GRCm39)	L160*	probably null	Het
Col6a6	T	C	9: 105,654,943 (GRCm39)	E926G	probably benign	Het
Cpsf2	T	A	12: 101,951,490 (GRCm39)	H142Q	probably benign	Het
Cr2	A	C	1: 194,853,419 (GRCm39)	S20A	possibly damaging	Het
Ct45a	G	A	X: 55,590,399 (GRCm39)	P134L	probably benign	Het
Cyp2j5	A	T	4: 96,547,749 (GRCm39)	H164Q	probably benign	Het
D430041D05Rik	G	C	2: 103,998,295 (GRCm39)	P1836R	probably damaging	Het
Dmbt1	G	A	7: 130,703,811 (GRCm39)	V1124M	probably damaging	Het
Dmxl2	T	C	9: 54,323,838 (GRCm39)	H1182R	probably damaging	Het
Dnah2	A	T	11: 69,368,509 (GRCm39)	S1709T	probably benign	Het
Dop1b	T	C	16: 93,560,844 (GRCm39)	V776A	probably damaging	Het
Emc3	T	C	6: 113,492,992 (GRCm39)	T220A	probably benign	Het
Entpd1	A	C	19: 40,715,769 (GRCm39)	N312T	probably benign	Het
Fam8a1	A	T	13: 46,824,699 (GRCm39)	I229F	probably damaging	Het
Fancc	G	A	13: 63,465,205 (GRCm39)	P501S	probably damaging	Het
Fasn	T	C	11: 120,702,751 (GRCm39)	R1704G	probably damaging	Het
Fsip2	A	G	2: 82,819,302 (GRCm39)	I5012V	probably benign	Het
Glce	T	C	9: 61,968,282 (GRCm39)	T290A	probably benign	Het
Gns	G	A	10: 121,219,349 (GRCm39)		probably null	Het
Gsdma2	A	G	11: 98,542,810 (GRCm39)	N190S	probably damaging	Het
Hectd4	T	A	5: 121,415,887 (GRCm39)	S563T	probably benign	Het
Hmcn1	T	C	1: 150,674,470 (GRCm39)		probably null	Het
Jup	A	T	11: 100,267,589 (GRCm39)	M578K	probably benign	Het
Kir3dl1	G	A	X: 135,434,594 (GRCm39)		probably null	Het
Krt75	A	G	15: 101,482,025 (GRCm39)	F81S	probably benign	Het
Lrp1	G	T	10: 127,403,233 (GRCm39)	D2113E	probably damaging	Het
Maged2	T	A	X: 149,594,830 (GRCm39)	N176Y	probably damaging	Het
Mrc1	T	A	2: 14,333,382 (GRCm39)	C1354*	probably null	Het
Mup7	A	C	4: 60,069,742 (GRCm39)	V74G	possibly damaging	Het
Naca	A	G	10: 127,877,031 (GRCm39)		probably benign	Het
Nav3	T	G	10: 109,659,325 (GRCm39)	Y764S	probably damaging	Het
Nkpd1	A	T	7: 19,257,099 (GRCm39)	T293S	probably benign	Het
Numb	A	G	12: 83,842,614 (GRCm39)	Y510H	probably damaging	Het
Nynrin	T	G	14: 56,105,492 (GRCm39)	L834R	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or2ak5	G	T	11: 58,611,347 (GRCm39)	H176N	probably benign	Het
Or8g18	T	A	9: 39,149,162 (GRCm39)	N186I	possibly damaging	Het
Otog	T	C	7: 45,920,797 (GRCm39)	V1000A	possibly damaging	Het
Pafah1b3	A	G	7: 24,996,554 (GRCm39)	V43A	possibly damaging	Het
Pcnx1	A	G	12: 82,030,450 (GRCm39)	Y1775C	possibly damaging	Het
Phka1	G	A	X: 101,564,437 (GRCm39)	R1074C	probably damaging	Het
Pi4ka	T	A	16: 17,111,765 (GRCm39)	Y1570F	probably benign	Het
Piezo2	T	C	18: 63,152,329 (GRCm39)	K2588E	probably damaging	Het
Pkd1	A	G	17: 24,794,549 (GRCm39)	T2079A	probably damaging	Het
Plekhd1	G	T	12: 80,764,075 (GRCm39)	Q212H	probably damaging	Het
Plekhh1	C	T	12: 79,087,359 (GRCm39)	R16*	probably null	Het
Polm	C	A	11: 5,786,207 (GRCm39)	R120L	probably damaging	Het
Ptpn22	T	C	3: 103,767,721 (GRCm39)	M1T	probably null	Het
Ptprh	G	A	7: 4,567,271 (GRCm39)	L534F	probably benign	Het
Rabl6	C	T	2: 25,482,778 (GRCm39)		probably null	Het
Rap2a	A	G	14: 120,716,403 (GRCm39)	S89G	probably damaging	Het
Rara	A	T	11: 98,862,406 (GRCm39)		probably null	Het
Reck	A	G	4: 43,930,295 (GRCm39)	D623G	probably benign	Het
Relt	A	T	7: 100,498,023 (GRCm39)	L237Q	probably damaging	Het
Rngtt	A	G	4: 33,329,598 (GRCm39)		probably null	Het
Rtn4rl2	T	G	2: 84,710,763 (GRCm39)	Y167S	probably damaging	Het
Sec24c	C	T	14: 20,738,505 (GRCm39)	R353C	probably damaging	Het
Slc35g2	T	C	9: 100,435,495 (GRCm39)	S59G	probably benign	Het
Smarcd2	A	T	11: 106,158,241 (GRCm39)	M107K	probably benign	Het
Smg1	T	C	7: 117,781,606 (GRCm39)	N1227S	possibly damaging	Het
Snrnp200	A	G	2: 127,063,734 (GRCm39)	N638D	possibly damaging	Het
Sntb1	A	G	15: 55,506,179 (GRCm39)	S465P	probably benign	Het
Sp4	A	G	12: 118,263,314 (GRCm39)	L244P	probably damaging	Het
Sulf1	A	G	1: 12,887,716 (GRCm39)		probably null	Het
Tbc1d17	T	C	7: 44,492,509 (GRCm39)	T385A	probably benign	Het
Tbx10	C	A	19: 4,047,873 (GRCm39)	D206E	probably benign	Het
Tcea2	C	T	2: 181,329,431 (GRCm39)	P275S	probably damaging	Het
Tns3	C	A	11: 8,443,121 (GRCm39)	R414L	probably benign	Het
Trip11	T	C	12: 101,852,235 (GRCm39)	R610G	possibly damaging	Het
Ugt2b1	T	C	5: 87,073,720 (GRCm39)	K213R	probably null	Het
Unc80	A	G	1: 66,647,601 (GRCm39)	S1514G	probably benign	Het
Usp7	G	T	16: 8,511,778 (GRCm39)	Q867K	possibly damaging	Het
Vim	T	C	2: 13,579,463 (GRCm39)	V74A	probably benign	Het
Vmn1r234	A	G	17: 21,450,007 (GRCm39)	Y307C	probably benign	Het
Vmn2r74	A	T	7: 85,610,517 (GRCm39)	Y58*	probably null	Het
Wdr36	C	A	18: 32,983,584 (GRCm39)	A445E	probably damaging	Het
Xpo5	T	A	17: 46,532,359 (GRCm39)	W465R	probably damaging	Het
Zscan4d	T	A	7: 10,898,946 (GRCm39)	R110S	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
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

Predicted Primers

PCR Primer
(F):5'- GGGAGAAAATCCCACCAGTCATAGC -3'
(R):5'- TCTAGCCTGTCTGAGAACCAGTCC -3'

Sequencing Primer
(F):5'- CACCAGTCATAGCTGGAGTG -3'
(R):5'- TGAGAACCAGTCCCTACTGC -3'

Posted On

2013-07-11