Mutagenetix > Incidental Mutation

Incidental Mutation 'R1985:Atp2a2'

220435

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

039997-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1985 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122591576-122640288 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122604899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 427 (Y427N)

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: Y427N

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000031423
Gene: ENSMUSG00000029467
AA Change: Y427N

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: Y427N

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000136104
Gene: ENSMUSG00000029467
AA Change: Y427N

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: Y427N

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000135935
Gene: ENSMUSG00000029467
AA Change: Y427N

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

Meta Mutation Damage Score

0.4086

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

94% (76/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	C	A	8: 71,916,157 (GRCm39)		probably benign	Het
Adam5	A	T	8: 25,236,755 (GRCm39)	D648E	probably benign	Het
Akr1d1	A	G	6: 37,535,336 (GRCm39)	D240G	probably damaging	Het
Ankmy2	A	G	12: 36,207,363 (GRCm39)	H3R	possibly damaging	Het
Anpep	A	C	7: 79,490,605 (GRCm39)		probably null	Het
Apobr	A	G	7: 126,186,903 (GRCm39)	T20A	possibly damaging	Het
Camkk2	A	C	5: 122,902,190 (GRCm39)	S40A	possibly damaging	Het
Camp	T	C	9: 109,677,497 (GRCm39)	N112S	probably benign	Het
Cbx7	A	G	15: 79,802,591 (GRCm39)	S229P	probably damaging	Het
Cnot2	T	C	10: 116,363,781 (GRCm39)	N41S	probably damaging	Het
Dchs1	A	G	7: 105,421,605 (GRCm39)	F272L	possibly damaging	Het
Dct	T	C	14: 118,273,954 (GRCm39)	K318E	probably benign	Het
Dhrs11	A	C	11: 84,719,633 (GRCm39)	L31V	probably damaging	Het
Dnah7a	T	C	1: 53,543,093 (GRCm39)	D2359G	probably benign	Het
Dnajc7	A	G	11: 100,481,718 (GRCm39)	S305P	probably benign	Het
Dscc1	CTGAATGAAT	CTGAAT	15: 54,943,572 (GRCm39)		probably benign	Het
Flnc	A	G	6: 29,444,415 (GRCm39)		probably benign	Het
Garin3	T	C	11: 46,298,693 (GRCm39)	*666Q	probably null	Het
Gm7535	A	G	17: 18,131,800 (GRCm39)		probably benign	Het
Grtp1	A	G	8: 13,229,376 (GRCm39)	F313L	probably damaging	Het
Haus6	T	C	4: 86,511,846 (GRCm39)	Y425C	possibly damaging	Het
Hdac1	T	A	4: 129,422,753 (GRCm39)	N83Y	possibly damaging	Het
Hdlbp	A	G	1: 93,358,840 (GRCm39)	I237T	probably damaging	Het
Hfm1	A	T	5: 107,046,442 (GRCm39)	D481E	probably damaging	Het
Hipk3	T	C	2: 104,264,780 (GRCm39)	I737V	probably benign	Het
Il23r	T	A	6: 67,467,652 (GRCm39)		probably null	Het
Il24	G	A	1: 130,810,268 (GRCm39)	T196I	probably benign	Het
Ints3	C	T	3: 90,307,610 (GRCm39)		probably null	Het
Kcna6	T	C	6: 126,715,473 (GRCm39)	E472G	probably benign	Het
Kcnj16	C	T	11: 110,916,409 (GRCm39)	T357M	probably benign	Het
Kdm4b	T	A	17: 56,708,302 (GRCm39)	V957E	probably damaging	Het
Kif21b	G	A	1: 136,075,284 (GRCm39)	D166N	probably damaging	Het
Klhl11	G	T	11: 100,354,070 (GRCm39)	Q584K	probably benign	Het
Krt9	A	T	11: 100,080,817 (GRCm39)	M345K	probably benign	Het
Lgr5	T	C	10: 115,331,150 (GRCm39)		probably benign	Het
Lilrb4b	A	T	10: 51,357,831 (GRCm39)	Q80L	possibly damaging	Het
Lrrc69	T	C	4: 14,708,669 (GRCm39)	E225G	possibly damaging	Het
Ly9	A	G	1: 171,427,341 (GRCm39)	S405P	probably damaging	Het
Myh2	A	G	11: 67,071,740 (GRCm39)	D519G	possibly damaging	Het
Nav3	G	A	10: 109,606,045 (GRCm39)		probably benign	Het
Nfkb1	G	A	3: 135,321,110 (GRCm39)	T215I	possibly damaging	Het
Ninj2	A	T	6: 120,175,600 (GRCm39)		probably benign	Het
Obsl1	A	G	1: 75,482,244 (GRCm39)	C209R	probably damaging	Het
Or13a25	G	A	7: 140,247,734 (GRCm39)	C171Y	probably damaging	Het
Or2d4	A	G	7: 106,544,133 (GRCm39)	I25T	probably benign	Het
Or2j6	A	T	7: 139,980,713 (GRCm39)	M82K	possibly damaging	Het
Or2t44	A	C	11: 58,677,210 (GRCm39)	D50A	probably damaging	Het
Or2y1g	T	C	11: 49,171,110 (GRCm39)	I45T	probably damaging	Het
Or52z14	A	T	7: 103,252,879 (GRCm39)	Y6F	probably benign	Het
Otud4	G	C	8: 80,366,641 (GRCm39)	R36P	probably damaging	Het
Pcnt	C	T	10: 76,216,171 (GRCm39)	R2239H	possibly damaging	Het
Pgbd5	T	A	8: 125,097,331 (GRCm39)	M491L	probably benign	Het
Pitrm1	A	T	13: 6,608,220 (GRCm39)	D316V	probably damaging	Het
Plod3	A	G	5: 137,019,707 (GRCm39)		probably null	Het
Plppr3	A	T	10: 79,703,294 (GRCm39)	Y63*	probably null	Het
Pramel52-ps	A	T	5: 94,531,931 (GRCm39)	I272L	probably benign	Het
Prickle2	T	C	6: 92,388,433 (GRCm39)	D323G	probably damaging	Het
Psmd11	A	T	11: 80,336,089 (GRCm39)	I114F	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rbp3	T	G	14: 33,678,418 (GRCm39)	S789A	probably benign	Het
Rfxap	C	A	3: 54,714,747 (GRCm39)	R117L	probably damaging	Het
Rims2	T	A	15: 39,208,710 (GRCm39)	M171K	probably damaging	Het
Scin	A	G	12: 40,183,907 (GRCm39)		probably null	Het
Scn11a	A	G	9: 119,583,744 (GRCm39)	S1624P	probably benign	Het
Slc41a3	G	A	6: 90,619,210 (GRCm39)	V330M	probably damaging	Het
Slc9c1	A	G	16: 45,370,469 (GRCm39)	I237V	probably benign	Het
Spag6	A	G	2: 18,736,930 (GRCm39)	I218V	probably benign	Het
Stam2	T	C	2: 52,599,638 (GRCm39)	T257A	possibly damaging	Het
Tbc1d24	G	A	17: 24,426,938 (GRCm39)	R318*	probably null	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Trpm3	T	A	19: 22,903,446 (GRCm39)	Y1069N	possibly damaging	Het
Tuba8	A	G	6: 121,197,479 (GRCm39)	D47G	probably benign	Het
Tulp3	A	T	6: 128,303,769 (GRCm39)	S277T	probably benign	Het
Uqcc6	T	A	10: 82,456,051 (GRCm39)	T37S	possibly damaging	Het
Wdr7	GTT	GT	18: 63,893,654 (GRCm39)		probably null	Het
Ybx2	A	G	11: 69,827,294 (GRCm39)		probably null	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp788	T	A	7: 41,299,905 (GRCm39)	I795N	probably 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
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'- GGTGCATCAGTGGTCAGAAC -3'
(R):5'- TCAGGGCCATGCTGGAATAG -3'

Sequencing Primer
(F):5'- TGCATCAGTGGTCAGAACATCATG -3'
(R):5'- AGGAGGACCTTCCACAATTTGTC -3'

Posted On

2014-08-25