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

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

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

122453513-122502225 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122461747 bp (GRCm38)

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: 124,406,350	G531A	probably damaging	Het
2410089E03Rik	G	A	15: 8,260,690		probably null	Het
Abca8b	C	A	11: 109,977,813	G175V	probably damaging	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Ap3d1	T	C	10: 80,723,549	T264A	probably benign	Het
Arhgef17	C	G	7: 100,929,428	G771A	probably benign	Het
Atg2b	T	A	12: 105,658,329	D637V	probably benign	Het
Atp10b	A	G	11: 43,212,475	E562G	probably damaging	Het
Atp1a1	A	G	3: 101,589,964	V342A	probably damaging	Het
Atr	T	A	9: 95,878,544	N1022K	probably benign	Het
Bach2	T	A	4: 32,562,683	D383E	probably benign	Het
Casq1	A	T	1: 172,219,416	L92Q	probably damaging	Het
Chd1	T	A	17: 15,732,570	Y371N	probably damaging	Het
Chd9	G	A	8: 90,997,149	A617T	probably damaging	Het
Cntrob	T	A	11: 69,314,750	R419S	possibly damaging	Het
Corin	C	A	5: 72,356,978	G318C	probably damaging	Het
Cpa3	A	G	3: 20,227,163		probably null	Het
Crybg1	T	C	10: 44,003,714	S493G	probably benign	Het
Ddc	A	G	11: 11,876,321	F80S	probably damaging	Het
Dhrs2	A	G	14: 55,236,144	S87G	possibly damaging	Het
Dnah12	A	G	14: 26,693,486	E14G	possibly damaging	Het
Dtd1	A	G	2: 144,747,022	E200G	possibly damaging	Het
Dync2h1	T	C	9: 7,155,099	E895G	probably damaging	Het
Ehhadh	A	C	16: 21,762,692	S517A	probably benign	Het
Ephb2	C	A	4: 136,693,787	Q417H	possibly damaging	Het
Ephb4	A	G	5: 137,363,312	T526A	probably damaging	Het
Fam222b	G	A	11: 78,153,768	V52I	probably damaging	Het
Galm	G	A	17: 80,144,987	W118*	probably null	Het
Galm	G	T	17: 80,144,988	W118C	probably damaging	Het
Gcfc2	A	G	6: 81,944,386	N458D	probably damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Gykl1	A	C	18: 52,694,651	R310S	possibly damaging	Het
Gzmn	A	C	14: 56,167,946	V27G	probably damaging	Het
H2-T23	T	A	17: 36,032,216	M90L	probably benign	Het
Hnrnpu	T	C	1: 178,337,312	E87G	unknown	Het
Hps3	G	A	3: 20,012,701	S567L	possibly damaging	Het
Igfn1	A	T	1: 135,964,938	V2148E	probably damaging	Het
Ighv1-75	T	C	12: 115,833,952	R117G	probably damaging	Het
Itgae	C	T	11: 73,145,638	A1134V	probably benign	Het
Kmt2b	C	T	7: 30,581,673	A1294T	possibly damaging	Het
Leng8	C	T	7: 4,145,473	T748I	probably damaging	Het
Lrig3	G	C	10: 126,006,690	D495H	probably damaging	Het
Mctp1	G	A	13: 76,712,079		probably null	Het
Mfsd3	T	A	15: 76,702,171	L168*	probably null	Het
Nlrp4d	C	A	7: 10,362,782	G921*	probably null	Het
Nsun4	G	A	4: 116,034,138	T348I	probably damaging	Het
Nucb1	T	C	7: 45,498,418	T246A	probably damaging	Het
Nynrin	A	C	14: 55,863,806	S311R	probably damaging	Het
Olfr1019	T	G	2: 85,841,014	Y259S	probably damaging	Het
Olfr1281	T	A	2: 111,328,396		probably null	Het
Ovch2	C	A	7: 107,792,134	R303L	probably benign	Het
Pcsk9	A	G	4: 106,447,174	S490P	probably damaging	Het
Pi4ka	A	G	16: 17,323,030	F859L	probably benign	Het
Pkd1l3	A	G	8: 109,640,792	D1207G	probably damaging	Het
Pnpla7	G	A	2: 25,021,952	R710Q	possibly damaging	Het
Prex2	T	G	1: 11,200,032	S1314A	probably damaging	Het
Rnf216	A	G	5: 143,093,002	L64P	probably damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc6a20b	T	G	9: 123,603,834	S374R	possibly damaging	Het
Slc8a1	G	T	17: 81,649,224	N128K	probably damaging	Het
Slc9a3r1	T	A	11: 115,163,761	I79N	probably damaging	Het
Slfn5	A	T	11: 82,956,385	D32V	probably damaging	Het
Snrnp35	T	C	5: 124,490,490	I122T	possibly damaging	Het
Snx24	C	T	18: 53,340,211	Q76*	probably null	Het
Sspo	T	A	6: 48,454,850	H692Q	probably damaging	Het
Stxbp3	T	C	3: 108,793,798	D585G	probably damaging	Het
Svep1	T	C	4: 58,072,677	N2211D	possibly damaging	Het
Tnfrsf18	G	A	4: 156,028,424		probably null	Het
Tnik	T	G	3: 28,541,972	D171E	probably damaging	Het
Ttc23l	T	A	15: 10,533,659	H266L	probably damaging	Het
Ttn	G	T	2: 76,894,770	S2037*	probably null	Het
Tuba3a	G	A	6: 125,281,310	T239I	probably damaging	Het
Usp25	T	A	16: 77,093,706	D767E	probably benign	Het
Whrn	G	T	4: 63,431,843	H546N	probably benign	Het
Xirp2	C	T	2: 67,511,162	T1249I	probably damaging	Het
Zbtb1	T	A	12: 76,386,240	D333E	probably damaging	Het
Zfp689	T	G	7: 127,448,815	E15A	possibly damaging	Het
Zhx3	A	G	2: 160,779,868	M793T	probably benign	Het

Other mutations in Atp2a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00576:Atp2a2	APN	5	122458083	splice site	probably null
IGL01459:Atp2a2	APN	5	122469652	missense	probably benign	0.03
IGL01721:Atp2a2	APN	5	122500792	missense	possibly damaging	0.89
IGL02614:Atp2a2	APN	5	122489303	missense	probably benign	0.00
IGL02616:Atp2a2	APN	5	122461684	missense	probably benign	0.07
IGL02826:Atp2a2	APN	5	122489291	missense	probably benign	0.03
IGL02876:Atp2a2	APN	5	122466008	missense	probably benign	0.18
PIT4458001:Atp2a2	UTSW	5	122457309	nonsense	probably null
R0087:Atp2a2	UTSW	5	122460961	missense	probably benign	0.02
R0139:Atp2a2	UTSW	5	122491715	missense	probably damaging	1.00
R0166:Atp2a2	UTSW	5	122466838	missense	possibly damaging	0.69
R0457:Atp2a2	UTSW	5	122469714	missense	probably benign
R0658:Atp2a2	UTSW	5	122457633	splice site	probably benign
R0815:Atp2a2	UTSW	5	122471236	missense	probably benign	0.02
R1282:Atp2a2	UTSW	5	122491754	missense	probably benign	0.00
R1538:Atp2a2	UTSW	5	122457377	missense	probably damaging	1.00
R1985:Atp2a2	UTSW	5	122466836	missense	probably benign	0.03
R2111:Atp2a2	UTSW	5	122459546	missense	probably damaging	1.00
R2517:Atp2a2	UTSW	5	122457513	missense	probably damaging	0.99
R4225:Atp2a2	UTSW	5	122469726	missense	probably benign
R4473:Atp2a2	UTSW	5	122457264	missense	probably benign	0.01
R4956:Atp2a2	UTSW	5	122461580	missense	probably benign	0.02
R4969:Atp2a2	UTSW	5	122458491	missense	possibly damaging	0.95
R5242:Atp2a2	UTSW	5	122461946	missense	probably damaging	1.00
R5497:Atp2a2	UTSW	5	122458169	missense	probably damaging	1.00
R5536:Atp2a2	UTSW	5	122457182	missense	probably benign	0.05
R5629:Atp2a2	UTSW	5	122460096	missense	probably damaging	1.00
R5641:Atp2a2	UTSW	5	122457576	missense	probably damaging	1.00
R6365:Atp2a2	UTSW	5	122461916	missense	probably benign	0.20
R6383:Atp2a2	UTSW	5	122501649	missense	probably benign	0.37
R6534:Atp2a2	UTSW	5	122457198	missense	possibly damaging	0.73
R7162:Atp2a2	UTSW	5	122489324	missense	probably benign	0.00
R7259:Atp2a2	UTSW	5	122466069	missense	probably benign	0.27
R7268:Atp2a2	UTSW	5	122467729	missense	probably benign	0.00
R7465:Atp2a2	UTSW	5	122461700	missense	probably benign
R7489:Atp2a2	UTSW	5	122467767	missense	probably benign
R7567:Atp2a2	UTSW	5	122491784	missense	probably benign	0.29
R7729:Atp2a2	UTSW	5	122491766	missense	probably benign	0.30
R7734:Atp2a2	UTSW	5	122458527	missense	possibly damaging	0.95
R7739:Atp2a2	UTSW	5	122469705	missense	probably damaging	0.98
R7743:Atp2a2	UTSW	5	122461571	missense	probably benign	0.32
R7934:Atp2a2	UTSW	5	122461576	missense	probably benign	0.00
R8822:Atp2a2	UTSW	5	122491709	missense	possibly damaging	0.71
R9123:Atp2a2	UTSW	5	122466855	nonsense	probably null
R9132:Atp2a2	UTSW	5	122461570	missense	probably damaging	1.00
R9170:Atp2a2	UTSW	5	122466024	missense	possibly damaging	0.95
R9254:Atp2a2	UTSW	5	122473252	missense	probably benign	0.23
R9379:Atp2a2	UTSW	5	122473252	missense	probably benign	0.23
R9694:Atp2a2	UTSW	5	122459645	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