Mutagenetix > Incidental Mutation

Incidental Mutation 'R7162:Atp2a2'

557642

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

045261-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7162 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122591576-122640288 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122627387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 126 (M126T)

Ref Sequence

ENSEMBL: ENSMUSP00000031423 (fasta)

Gene Model

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

AlphaFold

O55143

Predicted Effect

probably benign
Transcript: ENSMUST00000031423
AA Change: M126T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000031423
Gene: ENSMUSG00000029467
AA Change: M126T

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: M126T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000136104
Gene: ENSMUSG00000029467
AA Change: M126T

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: M126T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000135935
Gene: ENSMUSG00000029467
AA Change: M126T

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

0.1354

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (85/86)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akp3	C	T	1: 87,055,471 (GRCm39)	T506I	unknown	Het
Ank1	T	C	8: 23,622,370 (GRCm39)	W1640R	possibly damaging	Het
Bptf	A	T	11: 106,934,457 (GRCm39)		probably null	Het
Brat1	T	C	5: 140,696,004 (GRCm39)	V125A	probably benign	Het
Cables1	T	C	18: 12,059,423 (GRCm39)		probably null	Het
Cabp5	A	T	7: 13,135,260 (GRCm39)	M67L	probably damaging	Het
Cacna1b	A	C	2: 24,590,034 (GRCm39)	I558S	probably benign	Het
Ccdc166	A	G	15: 75,853,044 (GRCm39)	S308P	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cfhr2	A	G	1: 139,741,264 (GRCm39)	V237A	probably benign	Het
Clybl	C	A	14: 122,608,732 (GRCm39)	S108*	probably null	Het
Cubn	A	G	2: 13,347,309 (GRCm39)	Y2070H	probably damaging	Het
Cyp8b1	A	G	9: 121,744,777 (GRCm39)	F185S	probably damaging	Het
Dennd2c	T	A	3: 103,063,423 (GRCm39)	V620D	probably damaging	Het
Dis3l2	T	C	1: 86,971,752 (GRCm39)	F597L	possibly damaging	Het
Eif3f	G	A	7: 108,539,938 (GRCm39)	R282H	probably benign	Het
Ell	C	A	8: 71,031,559 (GRCm39)	R86S	possibly damaging	Het
Eppk1	A	G	15: 75,990,809 (GRCm39)	V2024A	possibly damaging	Het
Exoc6	T	C	19: 37,565,566 (GRCm39)	I214T	probably damaging	Het
Faim2	A	G	15: 99,419,048 (GRCm39)		probably null	Het
Gli1	A	G	10: 127,168,306 (GRCm39)	S516P	probably benign	Het
Gm18596	A	T	10: 77,578,034 (GRCm39)	S147T	unknown	Het
Gm19965	A	G	1: 116,750,095 (GRCm39)	Y592C	unknown	Het
Gng12	T	C	6: 66,994,285 (GRCm39)	S36P	unknown	Het
Gramd2b	G	A	18: 56,618,529 (GRCm39)		probably null	Het
Hmcn1	T	A	1: 150,624,744 (GRCm39)	T1054S	probably benign	Het
Ifngr1	A	G	10: 19,485,101 (GRCm39)	T367A	probably benign	Het
Il21r	G	T	7: 125,231,483 (GRCm39)	V304L	probably benign	Het
Ino80d	G	A	1: 63,104,894 (GRCm39)	T394M	probably damaging	Het
Itfg2	C	T	6: 128,387,546 (GRCm39)	V380M	probably damaging	Het
Kcna5	C	T	6: 126,510,806 (GRCm39)	V441I	possibly damaging	Het
Kcp	T	A	6: 29,497,199 (GRCm39)		probably null	Het
Kdf1	C	T	4: 133,257,229 (GRCm39)	T375I	unknown	Het
Klk1b1	A	T	7: 43,618,671 (GRCm39)	D16V	probably damaging	Het
Krtap5-4	A	C	7: 141,857,335 (GRCm39)	T2P	unknown	Het
Lamtor1	A	G	7: 101,555,243 (GRCm39)	D13G	probably benign	Het
Lrp10	T	C	14: 54,703,163 (GRCm39)	V72A	possibly damaging	Het
Lrrc1	C	A	9: 77,339,472 (GRCm39)	A503S	probably benign	Het
Mylk	A	T	16: 34,742,899 (GRCm39)	D1137V	probably damaging	Het
Myo5b	C	G	18: 74,828,498 (GRCm39)	L717V	probably benign	Het
Myoz3	T	A	18: 60,709,485 (GRCm39)	R225S	probably damaging	Het
Myrf	A	G	19: 10,196,010 (GRCm39)	F335L	possibly damaging	Het
Nfib	A	C	4: 82,268,677 (GRCm39)	S292A	probably damaging	Het
Notch3	G	T	17: 32,365,423 (GRCm39)	H1096Q	probably damaging	Het
Nt5c1a	A	G	4: 123,107,898 (GRCm39)	R194G	probably benign	Het
Or10d3	A	G	9: 39,461,525 (GRCm39)	I214T	probably damaging	Het
Or5a1	A	G	19: 12,097,501 (GRCm39)	F192L	possibly damaging	Het
Parp4	A	G	14: 56,886,333 (GRCm39)	E1804G	unknown	Het
Pcdhac2	A	T	18: 37,278,840 (GRCm39)	I607L	probably benign	Het
Pcdhb5	A	G	18: 37,454,739 (GRCm39)	D373G	probably benign	Het
Pcf11	A	T	7: 92,313,221 (GRCm39)	V154E	probably damaging	Het
Pdia3	T	G	2: 121,260,002 (GRCm39)	D180E	probably benign	Het
Piezo2	C	A	18: 63,257,780 (GRCm39)	V313F	possibly damaging	Het
Pik3ap1	C	A	19: 41,309,965 (GRCm39)	A452S	probably benign	Het
Plb1	A	G	5: 32,507,007 (GRCm39)	K1194R	probably benign	Het
Pld3	A	C	7: 27,231,899 (GRCm39)	W431G	probably damaging	Het
Plekha3	T	C	2: 76,523,110 (GRCm39)		probably null	Het
Ppm1f	G	T	16: 16,732,057 (GRCm39)	R169L	probably damaging	Het
Ppp2r3d	A	G	9: 124,439,673 (GRCm38)	V60A		Het
Prop1	T	A	11: 50,842,881 (GRCm39)	D102V	probably damaging	Het
Rbm27	G	A	18: 42,447,092 (GRCm39)	G446R	unknown	Het
Rc3h2	C	A	2: 37,299,617 (GRCm39)	V138L	possibly damaging	Het
Rorc	G	A	3: 94,284,915 (GRCm39)		probably null	Het
Sardh	A	G	2: 27,087,702 (GRCm39)	V723A	possibly damaging	Het
Sart3	A	G	5: 113,900,896 (GRCm39)	Y181H	probably damaging	Het
Sbpl	A	T	17: 24,172,439 (GRCm39)	M160K	possibly damaging	Het
Sh3gl3	A	G	7: 81,933,350 (GRCm39)	S238G	probably benign	Het
Slc22a30	A	G	19: 8,314,081 (GRCm39)		probably null	Het
Slc3a1	A	T	17: 85,371,442 (GRCm39)	R665*	probably null	Het
Stk32a	C	A	18: 43,430,649 (GRCm39)	Y186*	probably null	Het
Stxbp6	T	C	12: 44,949,663 (GRCm39)	N89D	probably benign	Het
Svep1	A	G	4: 58,070,262 (GRCm39)	F2508S	possibly damaging	Het
Tas1r1	A	G	4: 152,116,695 (GRCm39)	V313A	possibly damaging	Het
Tmem81	T	C	1: 132,435,355 (GRCm39)	Y54H	probably damaging	Het
Tmtc1	T	C	6: 148,172,985 (GRCm39)	N582S	probably damaging	Het
Top2b	T	C	14: 16,416,653 (GRCm38)	S1138P	probably benign	Het
Trim24	T	A	6: 37,942,456 (GRCm39)	N989K	possibly damaging	Het
Trim72	T	A	7: 127,606,821 (GRCm39)	M145K	probably benign	Het
Ttll9	T	A	2: 152,831,523 (GRCm39)	S154T	probably damaging	Het
Tusc3	T	C	8: 39,593,741 (GRCm39)	V286A	probably benign	Het
Vat1l	C	A	8: 114,963,518 (GRCm39)	H185N	probably damaging	Het
Vmn1r209	A	T	13: 22,990,128 (GRCm39)	D187E	probably damaging	Het
Vmn2r87	T	C	10: 130,313,416 (GRCm39)	N450S	probably benign	Het
Wdr7	T	A	18: 63,857,210 (GRCm39)	D95E	possibly damaging	Het
Zfp937	C	T	2: 150,081,439 (GRCm39)	H490Y	probably benign	Het
Zfp974	A	T	7: 27,610,944 (GRCm39)	H260Q	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
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'- AACCAGGGCTAGAGAAATGGCT -3'
(R):5'- GCCTTTGCCTCCCAAGTG -3'

Sequencing Primer
(F):5'- AGAGCACTGACTGATCTTCAG -3'
(R):5'- GCTGGGATTAAAGGTGTGCAC -3'

Posted On

2019-06-26