Mutagenetix > Incidental Mutation

Incidental Mutation 'R9694:Atp2a2'

735942

Institutional Source

Beutler Lab

Gene Symbol

Atp2a2

Ensembl Gene

ENSMUSG00000029467

Gene Name

ATPase, Ca++ transporting, cardiac muscle, slow twitch 2

Synonyms

SERCA2, Serca2a, D5Wsu150e, SERCA2B, sarco/endoplasmic reticulum Ca2+-ATPase 2, 9530097L16Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9694 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122591576-122640288 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122597708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 775 (F775S)

Ref Sequence

ENSEMBL: ENSMUSP00000031423 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031423] [ENSMUST00000177974] [ENSMUST00000179939]

AlphaFold

O55143

Predicted Effect

probably damaging
Transcript: ENSMUST00000031423
AA Change: F775S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031423
Gene: ENSMUSG00000029467
AA Change: F775S

Domain	Start	End	E-Value	Type
Cation_ATPase_N	3	77	9e-13	SMART
Pfam:E1-E2_ATPase	92	340	2.1e-66	PFAM
Pfam:Hydrolase	345	714	1.2e-18	PFAM
Pfam:HAD	348	711	1e-18	PFAM
Pfam:Cation_ATPase	418	527	2.5e-24	PFAM
Pfam:Hydrolase_3	682	746	1.9e-7	PFAM
Pfam:Cation_ATPase_C	783	986	2.4e-48	PFAM
transmembrane domain	1015	1032	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000177974
AA Change: F775S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136104
Gene: ENSMUSG00000029467
AA Change: F775S

Domain	Start	End	E-Value	Type
Cation_ATPase_N	3	77	9e-13	SMART
Pfam:E1-E2_ATPase	92	340	5.1e-66	PFAM
Pfam:Hydrolase	345	714	2.7e-18	PFAM
Pfam:HAD	348	711	2.6e-18	PFAM
Pfam:Cation_ATPase	418	527	4.7e-24	PFAM
Pfam:Hydrolase_3	682	746	7.2e-7	PFAM
Pfam:Cation_ATPase_C	783	986	5.9e-48	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000179939
AA Change: F775S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135935
Gene: ENSMUSG00000029467
AA Change: F775S

Domain	Start	End	E-Value	Type
Cation_ATPase_N	3	77	9e-13	SMART
Pfam:E1-E2_ATPase	93	341	9e-69	PFAM
Pfam:HAD	348	711	1.2e-16	PFAM
Pfam:Hydrolase_like2	418	527	3.1e-24	PFAM
Pfam:Hydrolase	496	714	8.7e-24	PFAM
Pfam:Hydrolase_3	682	746	3.4e-7	PFAM
Pfam:Cation_ATPase_C	783	986	1.6e-47	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.7%

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 into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2008]
PHENOTYPE: Targeted homozygous mutants are embryonic lethal while heterozygotes show reduced blood pressure and mildly impaired cardiac contractility and relaxation. Aged heterozygotes for one targeted mutation develop squamous cell tumors of the forestomach, esophagus, oral mucosa, tongue, and skin. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,899,573 (GRCm39)	Y948N	probably damaging	Het
Adamts2	A	G	11: 50,558,972 (GRCm39)	D229G	probably benign	Het
Adamts4	T	C	1: 171,081,530 (GRCm39)	S395P	probably benign	Het
Adcy1	T	C	11: 7,094,774 (GRCm39)	Y567H	probably damaging	Het
Agap3	A	G	5: 24,682,139 (GRCm39)	N212D	probably benign	Het
Baz1b	A	T	5: 135,273,094 (GRCm39)	Q1406L	probably benign	Het
C030006K11Rik	A	T	15: 76,607,928 (GRCm39)	V30D	possibly damaging	Het
Cep170b	T	A	12: 112,701,993 (GRCm39)	V262E	probably damaging	Het
Cgnl1	C	T	9: 71,632,803 (GRCm39)	G183R	probably benign	Het
Chd8	A	G	14: 52,441,341 (GRCm39)	I2257T	possibly damaging	Het
Chrna7	A	G	7: 62,754,809 (GRCm39)	I266T	probably damaging	Het
Cyp3a25	A	T	5: 145,923,685 (GRCm39)	Y319*	probably null	Het
Dcdc2a	A	T	13: 25,286,340 (GRCm39)	I125F	probably benign	Het
Dcdc2c	A	T	12: 28,585,553 (GRCm39)	I80N		Het
Dmtn	T	C	14: 70,852,732 (GRCm39)		probably null	Het
Dock2	T	C	11: 34,218,054 (GRCm39)	N1172S	probably benign	Het
Dock9	A	G	14: 121,818,791 (GRCm39)	S1564P	probably damaging	Het
Ecel1	T	C	1: 87,080,853 (GRCm39)	I350V	possibly damaging	Het
Eif4enif1	C	T	11: 3,170,384 (GRCm39)	L146F	probably damaging	Het
Ergic1	T	G	17: 26,843,585 (GRCm39)	D59E	probably benign	Het
F2rl2	A	T	13: 95,838,050 (GRCm39)	D365V	possibly damaging	Het
Fbxl16	C	T	17: 26,036,813 (GRCm39)	Q265*	probably null	Het
Fbxw26	T	C	9: 109,575,135 (GRCm39)		probably benign	Het
Fras1	A	T	5: 96,929,545 (GRCm39)	Y3983F	probably benign	Het
G6pd2	T	A	5: 61,966,460 (GRCm39)	D78E	probably benign	Het
Gas2l2	A	C	11: 83,314,170 (GRCm39)	S381A	possibly damaging	Het
Gm57858	A	G	3: 36,073,092 (GRCm39)	S397P	possibly damaging	Het
Grk2	G	A	19: 4,338,511 (GRCm39)	R474C	probably damaging	Het
Gxylt2	T	A	6: 100,710,174 (GRCm39)	V105E	probably benign	Het
Hexd	T	C	11: 121,107,813 (GRCm39)	V181A	probably damaging	Het
Ift70a2	T	C	2: 75,807,691 (GRCm39)	T274A	probably benign	Het
Ik	T	A	18: 36,877,840 (GRCm39)	D5E	probably benign	Het
Ilkap	A	G	1: 91,303,973 (GRCm39)	C163R		Het
Itpr3	C	T	17: 27,334,927 (GRCm39)	T2147I	probably damaging	Het
Kif1a	A	T	1: 92,950,173 (GRCm39)	V1418E	probably benign	Het
Kif26b	T	C	1: 178,743,815 (GRCm39)	C1304R	probably benign	Het
Lmna	CAGCACGGTGCGTGAGC	CAGC	3: 88,389,857 (GRCm39)		probably null	Het
Lvrn	A	T	18: 47,033,609 (GRCm39)	D940V	probably damaging	Het
Mill1	G	A	7: 17,997,027 (GRCm39)	R206H	probably benign	Het
Mrgpra1	A	T	7: 46,985,268 (GRCm39)	L137Q	probably damaging	Het
Npc2	C	A	12: 84,807,638 (GRCm39)	L73F	probably benign	Het
Or11g26	A	G	14: 50,752,669 (GRCm39)	T3A	probably benign	Het
Or52i2	A	T	7: 102,320,011 (GRCm39)	I295F	possibly damaging	Het
Or5al1	T	C	2: 85,990,681 (GRCm39)	E11G	probably benign	Het
Or5b97	A	T	19: 12,879,021 (GRCm39)	V41E	probably damaging	Het
Or5j3	T	C	2: 86,128,718 (GRCm39)	I186T	probably benign	Het
Osbpl1a	T	C	18: 12,952,565 (GRCm39)	H533R	probably benign	Het
Pax7	G	A	4: 139,556,819 (GRCm39)	T147M	probably benign	Het
Pdik1l	A	T	4: 134,006,711 (GRCm39)	S143T	unknown	Het
Prkg1	T	G	19: 30,764,371 (GRCm39)	T255P	possibly damaging	Het
Prmt2	A	T	10: 76,061,213 (GRCm39)	I91N	probably damaging	Het
Ptprm	A	G	17: 67,116,484 (GRCm39)	Y932H	probably damaging	Het
Ptprz1	A	T	6: 22,959,694 (GRCm39)	I64F	probably damaging	Het
Qrich2	T	C	11: 116,337,946 (GRCm39)	K154R	probably damaging	Het
Rab8b	T	C	9: 66,826,824 (GRCm39)	D31G	probably benign	Het
Radil	A	G	5: 142,473,378 (GRCm39)	S768P	probably damaging	Het
Rbm5	A	T	9: 107,622,152 (GRCm39)	D607E	probably benign	Het
Reep6	T	A	10: 80,169,393 (GRCm39)	V131E	probably damaging	Het
Rrbp1	T	A	2: 143,832,099 (GRCm39)	I23F	probably damaging	Het
Rubcn	A	T	16: 32,663,481 (GRCm39)	V385D	probably benign	Het
Sall2	C	T	14: 52,552,124 (GRCm39)	G357D	possibly damaging	Het
Slc12a6	T	A	2: 112,174,881 (GRCm39)	L547H	probably damaging	Het
Slc16a6	T	C	11: 109,354,322 (GRCm39)	T100A	probably benign	Het
Sptbn2	T	C	19: 4,800,535 (GRCm39)	L2250P	probably damaging	Het
Stab1	C	T	14: 30,876,901 (GRCm39)	A808T	probably benign	Het
Stag1	A	G	9: 100,810,151 (GRCm39)	T785A	probably benign	Het
Stambpl1	T	G	19: 34,211,535 (GRCm39)	S199A	probably benign	Het
Styxl2	A	T	1: 165,928,654 (GRCm39)	S319R	probably damaging	Het
Supt20	C	T	3: 54,623,015 (GRCm39)	S496L	probably benign	Het
Tanc1	T	C	2: 59,626,196 (GRCm39)	F518L	probably damaging	Het
Tdpoz3	T	A	3: 93,734,156 (GRCm39)	V277D	probably benign	Het
Unc45a	A	C	7: 79,975,403 (GRCm39)	Y934D	probably damaging	Het
Vmn1r192	G	A	13: 22,372,119 (GRCm39)	P34S	probably benign	Het
Wipf3	T	C	6: 54,466,004 (GRCm39)	S421P	possibly damaging	Het
Zfp296	A	G	7: 19,314,227 (GRCm39)	K361E	possibly damaging	Het
Zfp882	T	A	8: 72,667,915 (GRCm39)	N247K	probably benign	Het
Zfpm2	A	G	15: 40,965,710 (GRCm39)	T732A	possibly damaging	Het

Other mutations in Atp2a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00576:Atp2a2	APN	5	122,596,146 (GRCm39)	splice site	probably null
IGL01459:Atp2a2	APN	5	122,607,715 (GRCm39)	missense	probably benign	0.03
IGL01721:Atp2a2	APN	5	122,638,855 (GRCm39)	missense	possibly damaging	0.89
IGL02614:Atp2a2	APN	5	122,627,366 (GRCm39)	missense	probably benign	0.00
IGL02616:Atp2a2	APN	5	122,599,747 (GRCm39)	missense	probably benign	0.07
IGL02826:Atp2a2	APN	5	122,627,354 (GRCm39)	missense	probably benign	0.03
IGL02876:Atp2a2	APN	5	122,604,071 (GRCm39)	missense	probably benign	0.18
PIT4458001:Atp2a2	UTSW	5	122,595,372 (GRCm39)	nonsense	probably null
R0087:Atp2a2	UTSW	5	122,599,024 (GRCm39)	missense	probably benign	0.02
R0139:Atp2a2	UTSW	5	122,629,778 (GRCm39)	missense	probably damaging	1.00
R0166:Atp2a2	UTSW	5	122,604,901 (GRCm39)	missense	possibly damaging	0.69
R0457:Atp2a2	UTSW	5	122,607,777 (GRCm39)	missense	probably benign
R0658:Atp2a2	UTSW	5	122,595,696 (GRCm39)	splice site	probably benign
R0815:Atp2a2	UTSW	5	122,609,299 (GRCm39)	missense	probably benign	0.02
R1282:Atp2a2	UTSW	5	122,629,817 (GRCm39)	missense	probably benign	0.00
R1538:Atp2a2	UTSW	5	122,595,440 (GRCm39)	missense	probably damaging	1.00
R1985:Atp2a2	UTSW	5	122,604,899 (GRCm39)	missense	probably benign	0.03
R2111:Atp2a2	UTSW	5	122,597,609 (GRCm39)	missense	probably damaging	1.00
R2517:Atp2a2	UTSW	5	122,595,576 (GRCm39)	missense	probably damaging	0.99
R4225:Atp2a2	UTSW	5	122,607,789 (GRCm39)	missense	probably benign
R4473:Atp2a2	UTSW	5	122,595,327 (GRCm39)	missense	probably benign	0.01
R4956:Atp2a2	UTSW	5	122,599,643 (GRCm39)	missense	probably benign	0.02
R4969:Atp2a2	UTSW	5	122,596,554 (GRCm39)	missense	possibly damaging	0.95
R5242:Atp2a2	UTSW	5	122,600,009 (GRCm39)	missense	probably damaging	1.00
R5307:Atp2a2	UTSW	5	122,599,810 (GRCm39)	missense	probably benign	0.06
R5497:Atp2a2	UTSW	5	122,596,232 (GRCm39)	missense	probably damaging	1.00
R5536:Atp2a2	UTSW	5	122,595,245 (GRCm39)	missense	probably benign	0.05
R5629:Atp2a2	UTSW	5	122,598,159 (GRCm39)	missense	probably damaging	1.00
R5641:Atp2a2	UTSW	5	122,595,639 (GRCm39)	missense	probably damaging	1.00
R6365:Atp2a2	UTSW	5	122,599,979 (GRCm39)	missense	probably benign	0.20
R6383:Atp2a2	UTSW	5	122,639,712 (GRCm39)	missense	probably benign	0.37
R6534:Atp2a2	UTSW	5	122,595,261 (GRCm39)	missense	possibly damaging	0.73
R7162:Atp2a2	UTSW	5	122,627,387 (GRCm39)	missense	probably benign	0.00
R7259:Atp2a2	UTSW	5	122,604,132 (GRCm39)	missense	probably benign	0.27
R7268:Atp2a2	UTSW	5	122,605,792 (GRCm39)	missense	probably benign	0.00
R7465:Atp2a2	UTSW	5	122,599,763 (GRCm39)	missense	probably benign
R7489:Atp2a2	UTSW	5	122,605,830 (GRCm39)	missense	probably benign
R7567:Atp2a2	UTSW	5	122,629,847 (GRCm39)	missense	probably benign	0.29
R7729:Atp2a2	UTSW	5	122,629,829 (GRCm39)	missense	probably benign	0.30
R7734:Atp2a2	UTSW	5	122,596,590 (GRCm39)	missense	possibly damaging	0.95
R7739:Atp2a2	UTSW	5	122,607,768 (GRCm39)	missense	probably damaging	0.98
R7743:Atp2a2	UTSW	5	122,599,634 (GRCm39)	missense	probably benign	0.32
R7934:Atp2a2	UTSW	5	122,599,639 (GRCm39)	missense	probably benign	0.00
R8822:Atp2a2	UTSW	5	122,629,772 (GRCm39)	missense	possibly damaging	0.71
R9123:Atp2a2	UTSW	5	122,604,918 (GRCm39)	nonsense	probably null
R9132:Atp2a2	UTSW	5	122,599,633 (GRCm39)	missense	probably damaging	1.00
R9170:Atp2a2	UTSW	5	122,604,087 (GRCm39)	missense	possibly damaging	0.95
R9254:Atp2a2	UTSW	5	122,611,315 (GRCm39)	missense	probably benign	0.23
R9379:Atp2a2	UTSW	5	122,611,315 (GRCm39)	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- TTACAGCCAATAGCCAGGTAAC -3'
(R):5'- ACTTGTCTGCAGCTGACCAG -3'

Sequencing Primer
(F):5'- GGTAACGGAAAAAGAGCCACCC -3'
(R):5'- CTGACCAGTGGTGCAGAAAATATTC -3'

Posted On

2022-11-14