Mutagenetix > Incidental Mutation

Incidental Mutation 'R5307:Atp2a2'

404628

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

042890-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5307 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122591576-122640288 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122599810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 527 (I527T)

Ref Sequence

ENSEMBL: ENSMUSP00000135935 (fasta)

Gene Model

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

AlphaFold

O55143

Predicted Effect

probably benign
Transcript: ENSMUST00000031423
AA Change: I527T

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000031423
Gene: ENSMUSG00000029467
AA Change: I527T

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 benign
Transcript: ENSMUST00000177974
AA Change: I527T

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000136104
Gene: ENSMUSG00000029467
AA Change: I527T

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 benign
Transcript: ENSMUST00000179939
AA Change: I527T

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000135935
Gene: ENSMUSG00000029467
AA Change: I527T

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: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	G	3: 124,199,999 (GRCm39)	G531A	probably damaging	Het
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Ap3d1	T	C	10: 80,559,383 (GRCm39)	T264A	probably benign	Het
Arhgef17	C	G	7: 100,578,635 (GRCm39)	G771A	probably benign	Het
Atg2b	T	A	12: 105,624,588 (GRCm39)	D637V	probably benign	Het
Atp10b	A	G	11: 43,103,302 (GRCm39)	E562G	probably damaging	Het
Atp1a1	A	G	3: 101,497,280 (GRCm39)	V342A	probably damaging	Het
Atr	T	A	9: 95,760,597 (GRCm39)	N1022K	probably benign	Het
Bach2	T	A	4: 32,562,683 (GRCm39)	D383E	probably benign	Het
Casq1	A	T	1: 172,046,983 (GRCm39)	L92Q	probably damaging	Het
Chd1	T	A	17: 15,952,832 (GRCm39)	Y371N	probably damaging	Het
Chd9	G	A	8: 91,723,777 (GRCm39)	A617T	probably damaging	Het
Cntrob	T	A	11: 69,205,576 (GRCm39)	R419S	possibly damaging	Het
Corin	C	A	5: 72,514,321 (GRCm39)	G318C	probably damaging	Het
Cpa3	A	G	3: 20,281,327 (GRCm39)		probably null	Het
Cplane1	G	A	15: 8,290,174 (GRCm39)		probably null	Het
Crybg1	T	C	10: 43,879,710 (GRCm39)	S493G	probably benign	Het
Ddc	A	G	11: 11,826,321 (GRCm39)	F80S	probably damaging	Het
Dhrs2	A	G	14: 55,473,601 (GRCm39)	S87G	possibly damaging	Het
Dnah12	A	G	14: 26,414,641 (GRCm39)	E14G	possibly damaging	Het
Dtd1	A	G	2: 144,588,942 (GRCm39)	E200G	possibly damaging	Het
Dync2h1	T	C	9: 7,155,099 (GRCm39)	E895G	probably damaging	Het
Ehhadh	A	C	16: 21,581,442 (GRCm39)	S517A	probably benign	Het
Ephb2	C	A	4: 136,421,098 (GRCm39)	Q417H	possibly damaging	Het
Ephb4	A	G	5: 137,361,574 (GRCm39)	T526A	probably damaging	Het
Fam222b	G	A	11: 78,044,594 (GRCm39)	V52I	probably damaging	Het
Galm	G	A	17: 80,452,416 (GRCm39)	W118*	probably null	Het
Galm	G	T	17: 80,452,417 (GRCm39)	W118C	probably damaging	Het
Gcfc2	A	G	6: 81,921,367 (GRCm39)	N458D	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gykl1	A	C	18: 52,827,723 (GRCm39)	R310S	possibly damaging	Het
Gzmn	A	C	14: 56,405,403 (GRCm39)	V27G	probably damaging	Het
H2-T23	T	A	17: 36,343,108 (GRCm39)	M90L	probably benign	Het
Hnrnpu	T	C	1: 178,164,877 (GRCm39)	E87G	unknown	Het
Hps3	G	A	3: 20,066,865 (GRCm39)	S567L	possibly damaging	Het
Igfn1	A	T	1: 135,892,676 (GRCm39)	V2148E	probably damaging	Het
Ighv1-75	T	C	12: 115,797,572 (GRCm39)	R117G	probably damaging	Het
Itgae	C	T	11: 73,036,464 (GRCm39)	A1134V	probably benign	Het
Kmt2b	C	T	7: 30,281,098 (GRCm39)	A1294T	possibly damaging	Het
Leng8	C	T	7: 4,148,472 (GRCm39)	T748I	probably damaging	Het
Lrig3	G	C	10: 125,842,559 (GRCm39)	D495H	probably damaging	Het
Mctp1	G	A	13: 76,860,198 (GRCm39)		probably null	Het
Mfsd3	T	A	15: 76,586,371 (GRCm39)	L168*	probably null	Het
Nherf1	T	A	11: 115,054,587 (GRCm39)	I79N	probably damaging	Het
Nlrp4d	C	A	7: 10,096,709 (GRCm39)	G921*	probably null	Het
Nsun4	G	A	4: 115,891,335 (GRCm39)	T348I	probably damaging	Het
Nucb1	T	C	7: 45,147,842 (GRCm39)	T246A	probably damaging	Het
Nynrin	A	C	14: 56,101,263 (GRCm39)	S311R	probably damaging	Het
Or4k37	T	A	2: 111,158,741 (GRCm39)		probably null	Het
Or5ar1	T	G	2: 85,671,358 (GRCm39)	Y259S	probably damaging	Het
Ovch2	C	A	7: 107,391,341 (GRCm39)	R303L	probably benign	Het
Pcsk9	A	G	4: 106,304,371 (GRCm39)	S490P	probably damaging	Het
Pi4ka	A	G	16: 17,140,894 (GRCm39)	F859L	probably benign	Het
Pkd1l3	A	G	8: 110,367,424 (GRCm39)	D1207G	probably damaging	Het
Pnpla7	G	A	2: 24,911,964 (GRCm39)	R710Q	possibly damaging	Het
Prex2	T	G	1: 11,270,256 (GRCm39)	S1314A	probably damaging	Het
Rnf216	A	G	5: 143,078,757 (GRCm39)	L64P	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc6a20b	T	G	9: 123,432,899 (GRCm39)	S374R	possibly damaging	Het
Slc8a1	G	T	17: 81,956,653 (GRCm39)	N128K	probably damaging	Het
Slfn5	A	T	11: 82,847,211 (GRCm39)	D32V	probably damaging	Het
Snrnp35	T	C	5: 124,628,553 (GRCm39)	I122T	possibly damaging	Het
Snx24	C	T	18: 53,473,283 (GRCm39)	Q76*	probably null	Het
Sspo	T	A	6: 48,431,784 (GRCm39)	H692Q	probably damaging	Het
Stxbp3	T	C	3: 108,701,114 (GRCm39)	D585G	probably damaging	Het
Svep1	T	C	4: 58,072,677 (GRCm39)	N2211D	possibly damaging	Het
Tnfrsf18	G	A	4: 156,112,881 (GRCm39)		probably null	Het
Tnik	T	G	3: 28,596,121 (GRCm39)	D171E	probably damaging	Het
Ttc23l	T	A	15: 10,533,745 (GRCm39)	H266L	probably damaging	Het
Ttn	G	T	2: 76,725,114 (GRCm39)	S2037*	probably null	Het
Tuba3a	G	A	6: 125,258,273 (GRCm39)	T239I	probably damaging	Het
Usp25	T	A	16: 76,890,594 (GRCm39)	D767E	probably benign	Het
Whrn	G	T	4: 63,350,080 (GRCm39)	H546N	probably benign	Het
Xirp2	C	T	2: 67,341,506 (GRCm39)	T1249I	probably damaging	Het
Zbtb1	T	A	12: 76,433,014 (GRCm39)	D333E	probably damaging	Het
Zfp689	T	G	7: 127,047,987 (GRCm39)	E15A	possibly damaging	Het
Zhx3	A	G	2: 160,621,788 (GRCm39)	M793T	probably benign	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
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
R9694:Atp2a2	UTSW	5	122,597,708 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAGGTACCTCGTATTTGATGAAG -3'
(R):5'- TCACTCTGGAGTTTTCACGG -3'

Sequencing Primer
(F):5'- AAGTTAGCAGAGTCTTCCAGGTGC -3'
(R):5'- CTGGAGTTTTCACGGGATAGAAAATC -3'

Posted On

2016-07-22