Incidental Mutation 'R0588:Atp2a3'
ID 55844
Institutional Source Beutler Lab
Gene Symbol Atp2a3
Ensembl Gene ENSMUSG00000020788
Gene Name ATPase, Ca++ transporting, ubiquitous
Synonyms Serca3
MMRRC Submission 038778-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # R0588 (G1)
Quality Score 211
Status Validated
Chromosome 11
Chromosomal Location 72851995-72883869 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 72863850 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 192 (D192V)
Ref Sequence ENSEMBL: ENSMUSP00000104125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021142] [ENSMUST00000108484] [ENSMUST00000108485] [ENSMUST00000108486] [ENSMUST00000163326]
AlphaFold Q64518
Predicted Effect possibly damaging
Transcript: ENSMUST00000021142
AA Change: D192V

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021142
Gene: ENSMUSG00000020788
AA Change: D192V

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 possibly damaging
Transcript: ENSMUST00000108484
AA Change: D192V

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000104124
Gene: ENSMUSG00000020788
AA Change: D192V

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 possibly damaging
Transcript: ENSMUST00000108485
AA Change: D192V

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104125
Gene: ENSMUSG00000020788
AA Change: D192V

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 benign
Transcript: ENSMUST00000108486
AA Change: D192V

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000104126
Gene: ENSMUSG00000020788
AA Change: D192V

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 benign
Transcript: ENSMUST00000163326
AA Change: D192V

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000127036
Gene: ENSMUSG00000020788
AA Change: D192V

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 100% (25/25)
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T A 6: 142,548,787 (GRCm39) K1299* probably null Het
Adamts2 G T 11: 50,667,491 (GRCm39) W476C probably damaging Het
Ankrd13c T C 3: 157,711,454 (GRCm39) F525L probably damaging Het
Arg1 T C 10: 24,796,522 (GRCm39) S102G probably damaging Het
Cabin1 T C 10: 75,581,171 (GRCm39) E385G possibly damaging Het
Cacna1h A T 17: 25,606,538 (GRCm39) D1020E probably damaging Het
Calcb C T 7: 114,319,361 (GRCm39) H48Y probably benign Het
Crtc1 A G 8: 70,892,199 (GRCm39) S4P probably damaging Het
Dcaf6 A G 1: 165,247,792 (GRCm39) I147T possibly damaging Het
Ears2 T C 7: 121,643,514 (GRCm39) probably benign Het
Fas T C 19: 34,304,540 (GRCm39) V267A probably damaging Het
Fus T C 7: 127,584,746 (GRCm39) L84P probably damaging Het
Fyb1 T C 15: 6,609,940 (GRCm39) V171A probably benign Het
Gdap2 T A 3: 100,077,317 (GRCm39) M1K probably null Het
Gprc5b T A 7: 118,583,218 (GRCm39) Q217L probably benign Het
Lrrc69 A G 4: 14,704,001 (GRCm39) I273T possibly damaging Het
Map4k4 C A 1: 40,044,024 (GRCm39) Q556K possibly damaging Het
Npy6r T A 18: 44,408,888 (GRCm39) V103E possibly damaging Het
Or5b24 A G 19: 12,912,111 (GRCm39) Y3C probably benign Het
Shisa9 A G 16: 12,085,638 (GRCm39) T416A probably damaging Het
Slc26a9 C A 1: 131,681,749 (GRCm39) probably benign Het
Sostdc1 G T 12: 36,367,020 (GRCm39) probably benign Het
St18 T A 1: 6,887,962 (GRCm39) F510L probably damaging Het
Zdhhc7 A G 8: 120,810,106 (GRCm39) 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
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
R5266:Atp2a3 UTSW 11 72,866,223 (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'- TCTCATCGAGATCAAGTCCACCACA -3'
(R):5'- GCTGGAGTGAGCAGAGACTGAGC -3'

Sequencing Primer
(F):5'- ACACTTCGAGTGGACCAGTC -3'
(R):5'- tgagtggggaggttggg -3'
Posted On 2013-07-11