Incidental Mutation 'IGL02267:Atp2a3'
ID 286961
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp2a3
Ensembl Gene ENSMUSG00000020788
Gene Name ATPase, Ca++ transporting, ubiquitous
Synonyms Serca3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # IGL02267
Quality Score
Status
Chromosome 11
Chromosomal Location 72851995-72883869 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72878810 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 874 (L874Q)
Ref Sequence ENSEMBL: ENSMUSP00000104125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021142] [ENSMUST00000108484] [ENSMUST00000108485] [ENSMUST00000108486] [ENSMUST00000163326]
AlphaFold Q64518
Predicted Effect probably damaging
Transcript: ENSMUST00000021142
AA Change: L874Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021142
Gene: ENSMUSG00000020788
AA Change: L874Q

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: L856Q

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104124
Gene: ENSMUSG00000020788
AA Change: L856Q

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: L874Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104125
Gene: ENSMUSG00000020788
AA Change: L874Q

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 possibly damaging
Transcript: ENSMUST00000108486
AA Change: L856Q

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000104126
Gene: ENSMUSG00000020788
AA Change: L856Q

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: ENSMUST00000135234
Predicted Effect probably damaging
Transcript: ENSMUST00000163326
AA Change: L874Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127036
Gene: ENSMUSG00000020788
AA Change: L874Q

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
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 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
Adamts2 A G 11: 50,683,505 (GRCm39) Q929R probably benign Het
Aplf A T 6: 87,635,946 (GRCm39) D122E probably damaging Het
Atp2b2 A T 6: 113,770,691 (GRCm39) L406Q probably damaging Het
Atp6v1b1 A G 6: 83,733,891 (GRCm39) D374G probably benign Het
Bcas1 T A 2: 170,220,708 (GRCm39) R239* probably null Het
Bhmt2 A G 13: 93,805,854 (GRCm39) V56A probably damaging Het
Cage1 T C 13: 38,207,233 (GRCm39) E204G probably damaging Het
Ccdc157 G A 11: 4,094,035 (GRCm39) A532V probably benign Het
Cd300lb G A 11: 114,819,303 (GRCm39) R109* probably null Het
Clca4c-ps T C 3: 144,585,516 (GRCm39) noncoding transcript Het
Ctnna3 G T 10: 64,781,777 (GRCm39) V747F probably benign Het
Cyp2c29 A T 19: 39,318,866 (GRCm39) I488F probably benign Het
Cyp3a25 T C 5: 145,935,362 (GRCm39) M85V possibly damaging Het
Dnah7b T A 1: 46,266,090 (GRCm39) Y2220N probably damaging Het
Espl1 A G 15: 102,224,099 (GRCm39) I1217V probably benign Het
Exoc2 A G 13: 30,999,304 (GRCm39) S918P probably benign Het
Fer1l4 T A 2: 155,873,172 (GRCm39) I1303F possibly damaging Het
Gm28047 A T 15: 102,455,662 (GRCm39) I234K probably damaging Het
Gpcpd1 A G 2: 132,410,630 (GRCm39) V19A probably damaging Het
Gprin3 A G 6: 59,331,458 (GRCm39) V283A probably benign Het
Grb14 A G 2: 64,783,960 (GRCm39) Y56H probably damaging Het
Greb1 A G 12: 16,767,209 (GRCm39) F331S probably benign Het
Iigp1c T G 18: 60,379,470 (GRCm39) V335G probably damaging Het
Jkamp A G 12: 72,141,591 (GRCm39) Y198C probably damaging Het
Klk1b11 G T 7: 43,649,165 (GRCm39) C234F probably damaging Het
Nacad T C 11: 6,552,649 (GRCm39) T181A probably benign Het
Or1e23 A G 11: 73,407,375 (GRCm39) S217P probably benign Het
Or2m13 A T 16: 19,225,914 (GRCm39) L285Q possibly damaging Het
Or5ak4 T A 2: 85,161,465 (GRCm39) Y259F probably damaging Het
Pitpnm3 A T 11: 71,962,274 (GRCm39) I227N probably benign Het
Pnn A G 12: 59,116,995 (GRCm39) E189G probably damaging Het
Pnpla2 C A 7: 141,038,122 (GRCm39) P197T probably damaging Het
Pnpla6 A G 8: 3,567,327 (GRCm39) T62A probably benign Het
Ptprq G T 10: 107,482,419 (GRCm39) D1051E probably damaging Het
Rag2 C T 2: 101,460,376 (GRCm39) R229C probably damaging Het
Serinc1 A T 10: 57,399,204 (GRCm39) I196N probably damaging Het
Slc26a4 C T 12: 31,578,853 (GRCm39) probably benign Het
Slc26a9 T C 1: 131,680,583 (GRCm39) C43R probably damaging Het
Slc2a3 A T 6: 122,716,931 (GRCm39) Y44N probably benign Het
Smad5 T G 13: 56,883,603 (GRCm39) probably benign Het
Sugct C A 13: 17,819,450 (GRCm39) V132F possibly damaging Het
Supt6 T C 11: 78,117,030 (GRCm39) E568G possibly damaging Het
Tfpt T C 7: 3,631,982 (GRCm39) T43A probably damaging Het
Timp4 A T 6: 115,224,240 (GRCm39) V143E possibly damaging Het
Tns1 T C 1: 74,031,290 (GRCm39) D275G possibly damaging Het
Trib1 A G 15: 59,523,449 (GRCm39) E161G probably damaging Het
Trpc7 A T 13: 57,008,743 (GRCm39) L308Q probably damaging Het
Ush1c A T 7: 45,858,722 (GRCm39) V522E possibly damaging Het
Usp28 T C 9: 48,935,265 (GRCm39) V449A probably damaging Het
Vmn1r82 A G 7: 12,039,273 (GRCm39) Y64C probably damaging Het
Wwox G A 8: 115,438,805 (GRCm39) M290I 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
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
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
Posted On 2015-04-16