Mutagenetix > Incidental Mutation

Incidental Mutation 'R1538:Atp2a2'

169680

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

039577-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1538 (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 122595440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 970 (L970P)

Ref Sequence

ENSEMBL: ENSMUSP00000135935 (fasta)

Gene Model

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

AlphaFold

O55143

Predicted Effect

probably damaging
Transcript: ENSMUST00000031423
AA Change: L970P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031423
Gene: ENSMUSG00000029467
AA Change: L970P

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: L970P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136104
Gene: ENSMUSG00000029467
AA Change: L970P

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: L970P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135935
Gene: ENSMUSG00000029467
AA Change: L970P

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: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.6%

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	T	3: 137,771,162 (GRCm39)	R117L	probably benign	Het
4930447C04Rik	G	A	12: 72,928,120 (GRCm39)	A537V	possibly damaging	Het
4930579F01Rik	A	C	3: 137,889,517 (GRCm39)	D33E	probably damaging	Het
Acnat1	T	C	4: 49,447,835 (GRCm39)	K249E	possibly damaging	Het
Ankrd13a	T	C	5: 114,942,295 (GRCm39)	I526T	possibly damaging	Het
Aplp1	C	A	7: 30,135,452 (GRCm39)	E535D	probably benign	Het
Armc8	T	A	9: 99,387,343 (GRCm39)	H425L	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Asprv1	C	T	6: 86,605,618 (GRCm39)	Q155*	probably null	Het
Atl1	A	G	12: 69,972,962 (GRCm39)	Q94R	probably benign	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
Bod1l	A	G	5: 41,973,772 (GRCm39)	M2514T	probably benign	Het
Cacfd1	T	A	2: 26,908,951 (GRCm39)	D97E	probably benign	Het
Cacna1e	A	G	1: 154,437,504 (GRCm39)	L344P	probably damaging	Het
Cacna2d2	C	A	9: 107,394,615 (GRCm39)	R596S	probably damaging	Het
Catip	C	A	1: 74,403,811 (GRCm39)	S176*	probably null	Het
Cdcp1	G	A	9: 123,002,653 (GRCm39)	S806L	probably damaging	Het
Cdk6	A	T	5: 3,570,675 (GRCm39)	I289L	probably benign	Het
Cers3	C	T	7: 66,431,571 (GRCm39)	T182I	probably damaging	Het
Cfap46	T	A	7: 139,262,924 (GRCm39)	N43I	probably null	Het
Clec4n	A	T	6: 123,206,992 (GRCm39)	R5S	possibly damaging	Het
Cnr2	G	T	4: 135,644,012 (GRCm39)	S30I	probably benign	Het
Col18a1	C	T	10: 76,907,170 (GRCm39)	G870E	probably damaging	Het
Cpne6	T	C	14: 55,752,677 (GRCm39)	V289A	possibly damaging	Het
Crym	G	A	7: 119,796,938 (GRCm39)	L141F	probably benign	Het
Cxxc5	T	C	18: 35,991,622 (GRCm39)	S8P	unknown	Het
Dido1	A	C	2: 180,326,763 (GRCm39)	S453R	possibly damaging	Het
Dnah2	A	C	11: 69,368,028 (GRCm39)	S1770R	probably benign	Het
Dnah7a	A	G	1: 53,535,148 (GRCm39)	V2704A	possibly damaging	Het
Eml5	T	C	12: 98,760,535 (GRCm39)	N1738S	probably damaging	Het
Eri3	A	G	4: 117,439,836 (GRCm39)	T138A	possibly damaging	Het
Ext2	C	T	2: 93,537,632 (GRCm39)	E585K	probably damaging	Het
Fbxw19	T	A	9: 109,324,056 (GRCm39)	S38C	probably damaging	Het
Fcgbpl1	A	T	7: 27,854,917 (GRCm39)	I1848F	probably damaging	Het
Fmo6	G	A	1: 162,753,675 (GRCm39)	P156S	probably damaging	Het
Frem3	A	T	8: 81,339,764 (GRCm39)	I686F	probably benign	Het
Frem3	T	C	8: 81,339,339 (GRCm39)	L544P	probably damaging	Het
Gabra1	T	C	11: 42,031,177 (GRCm39)	Y251C	probably benign	Het
Gemin4	G	T	11: 76,101,987 (GRCm39)	Q925K	probably benign	Het
Gm18856	T	A	13: 14,139,274 (GRCm39)		probably benign	Het
Gnb1	A	T	4: 155,636,171 (GRCm39)	T164S	probably benign	Het
Gpx6	A	G	13: 21,497,822 (GRCm39)	D31G	possibly damaging	Het
Gzmd	A	C	14: 56,367,802 (GRCm39)	I157S	probably benign	Het
Il31ra	T	A	13: 112,684,000 (GRCm39)	N43I	possibly damaging	Het
Irak3	T	C	10: 120,001,035 (GRCm39)	T297A	probably benign	Het
Kank2	T	C	9: 21,685,927 (GRCm39)	D649G	probably damaging	Het
Kif3b	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	2: 153,159,382 (GRCm39)		probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klhl18	A	G	9: 110,275,815 (GRCm39)	F111S	probably damaging	Het
Lratd2	A	G	15: 60,695,498 (GRCm39)	C83R	probably damaging	Het
Lrp5	A	G	19: 3,697,585 (GRCm39)	S319P	possibly damaging	Het
Mettl15	T	C	2: 108,962,010 (GRCm39)		probably null	Het
Mtarc1	T	C	1: 184,534,199 (GRCm39)	E223G	probably damaging	Het
Ncoa1	T	C	12: 4,320,748 (GRCm39)	Q1107R	possibly damaging	Het
Ncoa7	T	G	10: 30,570,207 (GRCm39)	M251L	probably damaging	Het
Nos2	A	T	11: 78,847,396 (GRCm39)	M1023L	probably benign	Het
Nup107	T	C	10: 117,626,399 (GRCm39)	K25E	probably damaging	Het
Or10q1b	A	T	19: 13,682,860 (GRCm39)	Y223F	probably damaging	Het
Or52s1b	A	G	7: 102,822,193 (GRCm39)	I217T	probably damaging	Het
Or5k14	T	A	16: 58,693,261 (GRCm39)	N84I	probably damaging	Het
Or5p58	T	A	7: 107,694,493 (GRCm39)	I95F	probably damaging	Het
Or6b6	A	T	7: 106,571,190 (GRCm39)	Y120*	probably null	Het
Or6c206	T	C	10: 129,097,082 (GRCm39)	I84T	probably damaging	Het
Parm1	G	A	5: 91,742,306 (GRCm39)	E225K	possibly damaging	Het
Pdzd2	A	C	15: 12,373,047 (GRCm39)	S2363A	probably damaging	Het
Piezo1	A	G	8: 123,218,142 (GRCm39)	L1199P	probably damaging	Het
Prpsap1	A	T	11: 116,370,534 (GRCm39)	M141K	probably benign	Het
Prss29	A	T	17: 25,539,257 (GRCm39)	M1L	possibly damaging	Het
Pter	T	A	2: 12,983,417 (GRCm39)	S141T	probably benign	Het
Ptpru	A	T	4: 131,501,662 (GRCm39)	D1181E	probably damaging	Het
Rab3ip	T	A	10: 116,775,159 (GRCm39)	Q66H	probably damaging	Het
Rgs12	A	T	5: 35,178,511 (GRCm39)	T779S	probably damaging	Het
Rgs22	A	G	15: 36,048,922 (GRCm39)	F786S	probably damaging	Het
Rnasel	A	T	1: 153,636,540 (GRCm39)	D640V	possibly damaging	Het
Rp1	T	C	1: 4,415,899 (GRCm39)	T1738A	probably damaging	Het
Sacs	T	C	14: 61,447,508 (GRCm39)	S3185P	probably damaging	Het
Scnn1a	T	A	6: 125,315,856 (GRCm39)	D321E	possibly damaging	Het
Sec31b	G	C	19: 44,507,025 (GRCm39)	L1014V	probably benign	Het
Serpinb10	A	G	1: 107,468,690 (GRCm39)	Y111C	probably damaging	Het
Shld2	C	G	14: 33,990,833 (GRCm39)	Q24H	probably damaging	Het
Siglecg	A	G	7: 43,067,313 (GRCm39)	K627E	possibly damaging	Het
Sigmar1	T	C	4: 41,740,845 (GRCm39)	I95V	probably benign	Het
Sirpb1b	T	A	3: 15,613,819 (GRCm39)	T88S	possibly damaging	Het
Spire2	T	G	8: 124,084,895 (GRCm39)	L245R	probably damaging	Het
Stard9	C	A	2: 120,527,192 (GRCm39)	P1150T	probably benign	Het
Stat6	C	A	10: 127,489,125 (GRCm39)	T380N	probably damaging	Het
Sult3a1	G	A	10: 33,746,166 (GRCm39)	G162E	probably benign	Het
Surf4	T	C	2: 26,823,710 (GRCm39)		probably null	Het
Tacc2	T	C	7: 130,227,149 (GRCm39)	M1278T	probably benign	Het
Tacr2	T	A	10: 62,097,106 (GRCm39)		probably null	Het
Tcaf1	A	T	6: 42,655,923 (GRCm39)	V351E	probably damaging	Het
Tmcc2	A	G	1: 132,308,718 (GRCm39)	S59P	probably damaging	Het
Tmem17	G	A	11: 22,467,266 (GRCm39)	S60N	possibly damaging	Het
Tmem63b	C	G	17: 45,989,904 (GRCm39)	R88P	possibly damaging	Het
Tmprss7	A	T	16: 45,499,753 (GRCm39)	I307N	probably benign	Het
Treml2	A	T	17: 48,609,786 (GRCm39)	T73S	possibly damaging	Het
Trrap	A	G	5: 144,774,012 (GRCm39)	H2876R	possibly damaging	Het
Tyw3	A	G	3: 154,302,506 (GRCm39)	I53T	probably damaging	Het
Ugp2	A	G	11: 21,283,791 (GRCm39)	I92T	possibly damaging	Het
Vmn2r66	A	T	7: 84,644,166 (GRCm39)	M748K	possibly damaging	Het
Vmn2r82	T	C	10: 79,192,578 (GRCm39)	S52P	possibly damaging	Het
Wdr37	A	T	13: 8,886,828 (GRCm39)	S320T	probably benign	Het
Zbtb16	A	T	9: 48,743,583 (GRCm39)	M243K	probably benign	Het
Zfr	C	T	15: 12,150,329 (GRCm39)	T432I	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
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
R9694:Atp2a2	UTSW	5	122,597,708 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAACGGCCAGGAAATGCCATCG -3'
(R):5'- TCAGCAGGCAGTAGCATCACTAAAC -3'

Sequencing Primer
(F):5'- CCACAAACTTGAGCGTCTCA -3'
(R):5'- CTGAAAACCAGTCTTTGCTGAGG -3'

Posted On

2014-04-13