Incidental Mutation 'IGL01721:Atp2a2'
ID105109
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp2a2
Ensembl Gene ENSMUSG00000029467
Gene NameATPase, Ca++ transporting, cardiac muscle, slow twitch 2
Synonyms9530097L16Rik, SERCA2, D5Wsu150e, SERCA2B, sarco/endoplasmic reticulum Ca2+-ATPase 2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01721
Quality Score
Status
Chromosome5
Chromosomal Location122453513-122502225 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 122500792 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 53 (V53A)
Ref Sequence ENSEMBL: ENSMUSP00000135935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031423] [ENSMUST00000177974] [ENSMUST00000179939]
Predicted Effect possibly damaging
Transcript: ENSMUST00000031423
AA Change: V53A

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031423
Gene: ENSMUSG00000029467
AA Change: V53A

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000177974
AA Change: V53A

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000136104
Gene: ENSMUSG00000029467
AA Change: V53A

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000179939
AA Change: V53A

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135935
Gene: ENSMUSG00000029467
AA Change: V53A

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196490
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196562
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197415
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700088E04Rik T C 15: 79,139,253 M51V possibly damaging Het
Acad8 A G 9: 26,992,267 probably benign Het
Bicra T C 7: 15,988,699 T298A probably benign Het
Ccdc185 C T 1: 182,748,978 E49K possibly damaging Het
Cfhr2 A G 1: 139,813,614 S208P probably benign Het
Chd1 T C 17: 15,770,168 Y1661H probably damaging Het
Cntnap5a A G 1: 116,157,637 H435R probably benign Het
Cog8 A G 8: 107,054,065 V187A probably benign Het
Col24a1 A G 3: 145,538,567 H1532R probably benign Het
Dpp6 A G 5: 27,631,520 Y336C probably damaging Het
Drosha T A 15: 12,846,112 Y444* probably null Het
Egf A T 3: 129,697,722 C374* probably null Het
Eif2b3 C T 4: 117,058,804 H203Y probably damaging Het
Erbb4 A G 1: 68,254,563 V723A possibly damaging Het
Fbxo21 T C 5: 117,988,790 I202T probably benign Het
Gbp6 T C 5: 105,274,207 M544V probably benign Het
Gm10750 T C 2: 149,016,044 T96A unknown Het
Gm1840 A T 8: 5,639,896 noncoding transcript Het
Gm8232 A T 14: 44,437,183 probably null Het
Gsdma3 T C 11: 98,637,956 V412A possibly damaging Het
Hs6st1 A T 1: 36,068,935 H93L probably damaging Het
Hsf2 G A 10: 57,496,181 E77K probably benign Het
Ing3 T A 6: 21,968,880 probably benign Het
Ints6 T C 14: 62,713,739 I280M probably damaging Het
Kazn C A 4: 142,159,043 probably null Het
Klhl20 T C 1: 161,095,587 Y13C probably damaging Het
Krtap26-1 G A 16: 88,647,172 P187L probably damaging Het
Mga T A 2: 119,935,239 I1329K probably damaging Het
Mindy4 A G 6: 55,223,999 D223G probably damaging Het
Ncor2 T C 5: 125,050,937 E124G probably damaging Het
Nfat5 G A 8: 107,344,979 probably null Het
Nkain1 A G 4: 130,532,134 F184L probably benign Het
Olfr1061 T C 2: 86,413,333 T240A probably damaging Het
Rars A T 11: 35,828,664 F110L probably damaging Het
Rfx6 A C 10: 51,723,077 K509N probably damaging Het
Serpinb2 T C 1: 107,515,603 L44P probably damaging Het
Sin3a G A 9: 57,095,325 R167Q probably damaging Het
Sos2 T A 12: 69,603,867 T809S probably damaging Het
Stard9 A G 2: 120,703,330 E3356G probably damaging Het
Vmn1r52 A G 6: 90,178,923 T70A probably benign Het
Other mutations in Atp2a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00576:Atp2a2 APN 5 122458083 splice site probably null
IGL01459:Atp2a2 APN 5 122469652 missense probably benign 0.03
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
R5307:Atp2a2 UTSW 5 122461747 missense probably benign 0.06
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
Posted On2014-01-21