Incidental Mutation 'R5266:Atp2a3'
ID 401714
Institutional Source Beutler Lab
Gene Symbol Atp2a3
Ensembl Gene ENSMUSG00000020788
Gene Name ATPase, Ca++ transporting, ubiquitous
Synonyms Serca3
MMRRC Submission 042858-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # R5266 (G1)
Quality Score 157
Status Validated
Chromosome 11
Chromosomal Location 72851995-72883869 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72866223 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 281 (D281G)
Ref Sequence ENSEMBL: ENSMUSP00000104124 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021142] [ENSMUST00000108484] [ENSMUST00000108485] [ENSMUST00000108486] [ENSMUST00000163326]
AlphaFold Q64518
Predicted Effect probably damaging
Transcript: ENSMUST00000021142
AA Change: D281G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021142
Gene: ENSMUSG00000020788
AA Change: D281G

DomainStartEndE-ValueType
Cation_ATPase_N 3 77 4.43e-12 SMART
Pfam:E1-E2_ATPase 92 340 3.1e-66 PFAM
Pfam:Hydrolase 345 715 5.2e-22 PFAM
Pfam:HAD 348 712 3e-19 PFAM
Pfam:Cation_ATPase 418 528 4.4e-23 PFAM
Pfam:Hydrolase_3 684 747 4.5e-8 PFAM
Pfam:Cation_ATPase_C 784 987 1.8e-48 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108484
AA Change: D281G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104124
Gene: ENSMUSG00000020788
AA Change: D281G

DomainStartEndE-ValueType
Cation_ATPase_N 3 77 3.4e-16 SMART
Pfam:E1-E2_ATPase 93 341 8.9e-67 PFAM
Pfam:Hydrolase 345 697 8.1e-27 PFAM
Pfam:HAD 348 694 4.1e-14 PFAM
Pfam:Hydrolase_like2 418 528 2.1e-21 PFAM
Pfam:Hydrolase_3 666 729 2.6e-6 PFAM
transmembrane domain 742 764 N/A INTRINSIC
Pfam:Cation_ATPase_C 766 969 4.2e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108485
AA Change: D281G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104125
Gene: ENSMUSG00000020788
AA Change: D281G

DomainStartEndE-ValueType
Cation_ATPase_N 3 77 4.43e-12 SMART
Pfam:E1-E2_ATPase 93 341 1.1e-68 PFAM
Pfam:Hydrolase 345 715 2.7e-33 PFAM
Pfam:HAD 348 712 1.3e-17 PFAM
Pfam:Hydrolase_like2 418 528 2.2e-23 PFAM
Pfam:Hydrolase_3 684 747 1.8e-8 PFAM
Pfam:Cation_ATPase_C 784 987 2.6e-48 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108486
AA Change: D281G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104126
Gene: ENSMUSG00000020788
AA Change: D281G

DomainStartEndE-ValueType
Cation_ATPase_N 3 77 4.43e-12 SMART
Pfam:E1-E2_ATPase 93 341 1.4e-68 PFAM
Pfam:Hydrolase 345 697 2.8e-28 PFAM
Pfam:HAD 348 694 1.1e-15 PFAM
Pfam:Hydrolase_like2 418 528 1.7e-23 PFAM
Pfam:Hydrolase_3 666 729 5.1e-8 PFAM
Pfam:Cation_ATPase_C 766 969 2.5e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149493
Predicted Effect probably damaging
Transcript: ENSMUST00000163326
AA Change: D281G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000127036
Gene: ENSMUSG00000020788
AA Change: D281G

DomainStartEndE-ValueType
Cation_ATPase_N 3 77 4.43e-12 SMART
Pfam:E1-E2_ATPase 93 341 1.4e-68 PFAM
Pfam:Hydrolase 345 715 6.5e-33 PFAM
Pfam:HAD 348 712 2.5e-17 PFAM
Pfam:Hydrolase_like2 418 528 1.7e-23 PFAM
Pfam:Hydrolase_3 684 747 5.1e-8 PFAM
Pfam:Cation_ATPase_C 784 987 2.5e-48 PFAM
Meta Mutation Damage Score 0.8592 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 97% (56/58)
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 to the sarcoplasmic reticulum lumen, and is involved in calcium sequestration associated with muscular excitation and contraction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in reduced endothelial-dependent relaxation in the aorta. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik T C 18: 70,591,455 (GRCm39) N457S probably damaging Het
Asic4 G A 1: 75,427,567 (GRCm39) G31E probably benign Het
Azin1 T C 15: 38,491,795 (GRCm39) D387G probably benign Het
Bdp1 T C 13: 100,204,043 (GRCm39) M660V probably benign Het
Catsperg2 G A 7: 29,416,491 (GRCm39) T307M probably damaging Het
Cfap54 T G 10: 92,651,764 (GRCm39) K3095N probably benign Het
Chl1 A G 6: 103,677,504 (GRCm39) N706S probably damaging Het
Crym A G 7: 119,798,517 (GRCm39) V113A probably benign Het
Cux1 A G 5: 136,341,548 (GRCm39) S607P probably damaging Het
Cyp3a44 T C 5: 145,731,207 (GRCm39) N198D possibly damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Elac1 A G 18: 73,875,740 (GRCm39) V97A probably benign Het
Erbb3 G A 10: 128,405,505 (GRCm39) T1251M probably damaging Het
Gask1b T A 3: 79,843,910 (GRCm39) N12K probably damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Hydin A G 8: 111,061,416 (GRCm39) H316R possibly damaging Het
Ikzf3 A T 11: 98,381,406 (GRCm39) M58K probably benign Het
Lyst T C 13: 13,835,555 (GRCm39) Y1746H probably damaging Het
Map3k11 T A 19: 5,750,622 (GRCm39) N613K probably benign Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Mrm1 A T 11: 84,710,086 (GRCm39) L38Q possibly damaging Het
Myo7b A G 18: 32,131,787 (GRCm39) F470L probably damaging Het
Ndst2 G A 14: 20,774,555 (GRCm39) R834W probably damaging Het
Opa1 T A 16: 29,436,948 (GRCm39) I637N probably benign Het
Or52h9 A T 7: 104,203,026 (GRCm39) Q300L probably benign Het
Or5d43 T C 2: 88,104,565 (GRCm39) Y276C possibly damaging Het
Padi4 A G 4: 140,473,442 (GRCm39) V665A possibly damaging Het
Pcdh1 A G 18: 38,325,252 (GRCm39) Y897H probably damaging Het
Pkp3 A G 7: 140,663,190 (GRCm39) D345G probably damaging Het
Pla2g4a T C 1: 149,740,918 (GRCm39) M366V possibly damaging Het
Pnkp C T 7: 44,511,827 (GRCm39) S113L probably damaging Het
Pon3 T C 6: 5,240,860 (GRCm39) D34G possibly damaging Het
Ppargc1b A T 18: 61,448,876 (GRCm39) S133T probably damaging Het
Ppp4r3b T C 11: 29,123,309 (GRCm39) S2P possibly damaging Het
Rbm20 A G 19: 53,801,818 (GRCm39) T109A probably damaging Het
Rexo5 C A 7: 119,443,660 (GRCm39) H690Q probably benign Het
Scube2 C T 7: 109,408,437 (GRCm39) G670D probably damaging Het
Sipa1l2 T C 8: 126,218,865 (GRCm39) I157M probably damaging Het
Slbp A T 5: 33,801,210 (GRCm39) I167N probably damaging Het
Sry C G Y: 2,662,975 (GRCm39) Q228H unknown Het
Stk36 T C 1: 74,650,317 (GRCm39) V283A probably benign Het
Tead1 A G 7: 112,358,673 (GRCm39) probably benign Het
Tecpr2 G C 12: 110,881,836 (GRCm39) W135S probably damaging Het
Tha1 A C 11: 117,760,502 (GRCm39) S241A probably damaging Het
Ttc39a A T 4: 109,279,701 (GRCm39) I112F probably benign Het
Vmn1r128 A T 7: 21,083,328 (GRCm39) T11S probably benign Het
Vnn1 G A 10: 23,779,303 (GRCm39) C404Y probably damaging Het
Wdr41 T C 13: 95,131,759 (GRCm39) F57L probably damaging Het
Zfp975 T G 7: 42,311,654 (GRCm39) T320P probably damaging Het
Zfp985 A T 4: 147,667,289 (GRCm39) probably null Het
Zfpm2 T C 15: 40,962,865 (GRCm39) S176P probably benign Het
Other mutations in Atp2a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00834:Atp2a3 APN 11 72,873,613 (GRCm39) missense probably damaging 0.98
IGL01141:Atp2a3 APN 11 72,873,491 (GRCm39) missense probably damaging 1.00
IGL01949:Atp2a3 APN 11 72,872,723 (GRCm39) missense probably damaging 1.00
IGL02267:Atp2a3 APN 11 72,878,810 (GRCm39) missense probably damaging 1.00
IGL02385:Atp2a3 APN 11 72,866,165 (GRCm39) missense probably benign 0.00
IGL02390:Atp2a3 APN 11 72,866,165 (GRCm39) missense probably benign 0.00
IGL02391:Atp2a3 APN 11 72,866,165 (GRCm39) missense probably benign 0.00
IGL02392:Atp2a3 APN 11 72,866,165 (GRCm39) missense probably benign 0.00
IGL02487:Atp2a3 APN 11 72,866,165 (GRCm39) missense probably benign 0.00
IGL02525:Atp2a3 APN 11 72,866,165 (GRCm39) missense probably benign 0.00
IGL02526:Atp2a3 APN 11 72,866,165 (GRCm39) missense probably benign 0.00
IGL02527:Atp2a3 APN 11 72,866,165 (GRCm39) missense probably benign 0.00
IGL02581:Atp2a3 APN 11 72,866,165 (GRCm39) missense probably benign 0.00
IGL02643:Atp2a3 APN 11 72,866,165 (GRCm39) missense probably benign 0.00
IGL02644:Atp2a3 APN 11 72,866,165 (GRCm39) missense probably benign 0.00
IGL02646:Atp2a3 APN 11 72,866,165 (GRCm39) missense probably benign 0.00
IGL02647:Atp2a3 APN 11 72,866,165 (GRCm39) missense probably benign 0.00
IGL02649:Atp2a3 APN 11 72,866,165 (GRCm39) missense probably benign 0.00
IGL02650:Atp2a3 APN 11 72,866,165 (GRCm39) missense probably benign 0.00
IGL02651:Atp2a3 APN 11 72,866,165 (GRCm39) missense probably benign 0.00
IGL02667:Atp2a3 APN 11 72,866,165 (GRCm39) missense probably benign 0.00
IGL02668:Atp2a3 APN 11 72,866,165 (GRCm39) missense probably benign 0.00
IGL02819:Atp2a3 APN 11 72,868,033 (GRCm39) missense probably damaging 1.00
IGL02888:Atp2a3 APN 11 72,867,954 (GRCm39) splice site probably benign
Aplomb UTSW 11 72,871,274 (GRCm39) missense probably damaging 1.00
flair UTSW 11 72,866,223 (GRCm39) missense probably damaging 1.00
panache UTSW 11 72,872,765 (GRCm39) missense probably damaging 1.00
R0193:Atp2a3 UTSW 11 72,863,046 (GRCm39) missense possibly damaging 0.57
R0357:Atp2a3 UTSW 11 72,861,757 (GRCm39) critical splice donor site probably null
R0376:Atp2a3 UTSW 11 72,873,528 (GRCm39) missense probably damaging 1.00
R0452:Atp2a3 UTSW 11 72,868,058 (GRCm39) splice site probably null
R0494:Atp2a3 UTSW 11 72,872,731 (GRCm39) missense probably damaging 1.00
R0588:Atp2a3 UTSW 11 72,863,850 (GRCm39) missense possibly damaging 0.79
R0674:Atp2a3 UTSW 11 72,872,711 (GRCm39) missense probably damaging 1.00
R1586:Atp2a3 UTSW 11 72,882,570 (GRCm39) missense probably damaging 0.98
R1666:Atp2a3 UTSW 11 72,869,633 (GRCm39) critical splice donor site probably null
R1994:Atp2a3 UTSW 11 72,866,240 (GRCm39) missense probably damaging 0.99
R2087:Atp2a3 UTSW 11 72,871,274 (GRCm39) missense probably damaging 1.00
R4675:Atp2a3 UTSW 11 72,872,623 (GRCm39) missense probably damaging 1.00
R4795:Atp2a3 UTSW 11 72,863,855 (GRCm39) missense probably benign 0.01
R4898:Atp2a3 UTSW 11 72,873,506 (GRCm39) missense probably damaging 1.00
R5083:Atp2a3 UTSW 11 72,873,652 (GRCm39) missense probably null 0.49
R5174:Atp2a3 UTSW 11 72,871,041 (GRCm39) missense probably damaging 1.00
R5304:Atp2a3 UTSW 11 72,879,383 (GRCm39) missense probably damaging 0.98
R5802:Atp2a3 UTSW 11 72,863,708 (GRCm39) missense probably damaging 1.00
R6107:Atp2a3 UTSW 11 72,879,287 (GRCm39) critical splice acceptor site probably null
R6157:Atp2a3 UTSW 11 72,871,442 (GRCm39) missense probably damaging 1.00
R6760:Atp2a3 UTSW 11 72,873,566 (GRCm39) missense probably damaging 1.00
R7406:Atp2a3 UTSW 11 72,869,576 (GRCm39) missense probably damaging 1.00
R8818:Atp2a3 UTSW 11 72,872,765 (GRCm39) missense probably damaging 1.00
R9376:Atp2a3 UTSW 11 72,863,290 (GRCm39) missense probably damaging 1.00
R9456:Atp2a3 UTSW 11 72,871,131 (GRCm39) missense probably benign 0.07
R9562:Atp2a3 UTSW 11 72,873,578 (GRCm39) missense probably damaging 1.00
R9608:Atp2a3 UTSW 11 72,879,866 (GRCm39) missense probably benign 0.40
Z1176:Atp2a3 UTSW 11 72,880,366 (GRCm39) missense probably benign
Z1176:Atp2a3 UTSW 11 72,871,448 (GRCm39) missense possibly damaging 0.96
Z1177:Atp2a3 UTSW 11 72,871,153 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GGCACCAATATTGCATCAGGC -3'
(R):5'- TTGTCAGAGCAGATGACCGAG -3'

Sequencing Primer
(F):5'- AAAGCCCTGGGTGTGGCTG -3'
(R):5'- AGCGTCTCCACAGAAGGCAG -3'
Posted On 2016-07-06