Incidental Mutation 'R2087:Atp2a3'
| ID |
231534 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp2a3
|
| Ensembl Gene |
ENSMUSG00000020788 |
| Gene Name |
ATPase, Ca++ transporting, ubiquitous |
| Synonyms |
Serca3 |
| MMRRC Submission |
040092-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
R2087 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
72851995-72883869 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72871274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 592
(T592A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127036
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021142]
[ENSMUST00000108484]
[ENSMUST00000108485]
[ENSMUST00000108486]
[ENSMUST00000163326]
|
| AlphaFold |
Q64518 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021142
AA Change: T592A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021142
Gene: ENSMUSG00000020788
AA Change: T592A
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000108484
|
| SMART Domains |
Protein: ENSMUSP00000104124
Gene: ENSMUSG00000020788
| Domain | Start | End | E-Value | Type |
|---|
|
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: T592A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104125
Gene: ENSMUSG00000020788
AA Change: T592A
| Domain | Start | End | E-Value | Type |
|---|
|
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
|
| SMART Domains |
Protein: ENSMUSP00000104126
Gene: ENSMUSG00000020788
| Domain | Start | End | E-Value | Type |
|---|
|
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: T592A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127036
Gene: ENSMUSG00000020788
AA Change: T592A
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
0.6394 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
95% (57/60) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700021P04Rik |
T |
A |
19: 24,042,364 (GRCm39) |
|
noncoding transcript |
Het |
| Adamts8 |
G |
A |
9: 30,873,408 (GRCm39) |
R871Q |
probably damaging |
Het |
| Ank1 |
T |
C |
8: 23,583,827 (GRCm39) |
L310S |
probably damaging |
Het |
| Bpifb6 |
A |
G |
2: 153,747,998 (GRCm39) |
D219G |
possibly damaging |
Het |
| Catsper4 |
T |
C |
4: 133,953,916 (GRCm39) |
N81S |
probably damaging |
Het |
| Ccdc14 |
T |
C |
16: 34,516,015 (GRCm39) |
|
probably null |
Het |
| Ces1c |
A |
C |
8: 93,834,230 (GRCm39) |
N353K |
probably benign |
Het |
| Chrna6 |
T |
A |
8: 27,897,155 (GRCm39) |
M241L |
probably benign |
Het |
| Chtf8 |
T |
A |
8: 107,612,568 (GRCm39) |
R124* |
probably null |
Het |
| Cpt1b |
A |
G |
15: 89,306,411 (GRCm39) |
V296A |
probably benign |
Het |
| Cryl1 |
G |
A |
14: 57,513,402 (GRCm39) |
S273L |
possibly damaging |
Het |
| Ctps1 |
T |
C |
4: 120,420,012 (GRCm39) |
D134G |
probably benign |
Het |
| Cyp4f18 |
T |
C |
8: 72,754,832 (GRCm39) |
M138V |
probably benign |
Het |
| Dnajb12 |
A |
G |
10: 59,726,667 (GRCm39) |
K107R |
possibly damaging |
Het |
| Epha1 |
C |
T |
6: 42,340,502 (GRCm39) |
D590N |
probably benign |
Het |
| Fndc3b |
A |
G |
3: 27,505,703 (GRCm39) |
V855A |
probably benign |
Het |
| Ganc |
A |
G |
2: 120,287,738 (GRCm39) |
Y822C |
probably damaging |
Het |
| Hook2 |
A |
G |
8: 85,729,320 (GRCm39) |
D622G |
probably damaging |
Het |
| Kcnj8 |
T |
A |
6: 142,511,422 (GRCm39) |
N395I |
probably benign |
Het |
| Kdm4b |
T |
C |
17: 56,696,564 (GRCm39) |
S427P |
possibly damaging |
Het |
| Krt12 |
A |
G |
11: 99,309,459 (GRCm39) |
F267S |
probably damaging |
Het |
| Lrrn2 |
T |
G |
1: 132,865,489 (GRCm39) |
F185V |
probably damaging |
Het |
| Mecom |
A |
G |
3: 30,006,963 (GRCm39) |
S764P |
probably benign |
Het |
| Mfsd14b |
C |
G |
13: 65,215,796 (GRCm39) |
G386R |
probably damaging |
Het |
| Mrm2 |
A |
G |
5: 140,314,155 (GRCm39) |
S227P |
probably damaging |
Het |
| Mug1 |
A |
G |
6: 121,833,250 (GRCm39) |
N285S |
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,518,557 (GRCm39) |
T1661A |
probably benign |
Het |
| Ncoa6 |
G |
A |
2: 155,248,079 (GRCm39) |
R1742* |
probably null |
Het |
| Nln |
T |
A |
13: 104,173,877 (GRCm39) |
H548L |
probably damaging |
Het |
| Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
| Or2r3 |
A |
T |
6: 42,448,985 (GRCm39) |
N42K |
probably damaging |
Het |
| Or56b34 |
T |
A |
7: 104,937,393 (GRCm39) |
I31N |
probably benign |
Het |
| Pgm5 |
T |
C |
19: 24,710,927 (GRCm39) |
Y425C |
probably damaging |
Het |
| Pld2 |
A |
G |
11: 70,433,786 (GRCm39) |
D242G |
probably damaging |
Het |
| Plekhm1 |
A |
G |
11: 103,287,851 (GRCm39) |
|
probably null |
Het |
| Ptdss1 |
T |
C |
13: 67,124,881 (GRCm39) |
|
probably benign |
Het |
| Pyroxd2 |
G |
T |
19: 42,722,209 (GRCm39) |
L415I |
probably benign |
Het |
| Rapgef6 |
A |
G |
11: 54,522,075 (GRCm39) |
T291A |
probably damaging |
Het |
| Rb1 |
A |
G |
14: 73,517,692 (GRCm39) |
I238T |
probably benign |
Het |
| Rp1 |
G |
A |
1: 4,418,575 (GRCm39) |
H846Y |
probably damaging |
Het |
| Rpgrip1 |
T |
A |
14: 52,374,079 (GRCm39) |
|
probably null |
Het |
| Scaf4 |
T |
C |
16: 90,049,313 (GRCm39) |
D258G |
unknown |
Het |
| Ska1 |
A |
T |
18: 74,339,920 (GRCm39) |
C9S |
probably benign |
Het |
| Skp2 |
C |
A |
15: 9,113,786 (GRCm39) |
G376C |
probably damaging |
Het |
| Slc43a1 |
G |
A |
2: 84,680,175 (GRCm39) |
R107Q |
probably damaging |
Het |
| Slc44a3 |
T |
A |
3: 121,319,319 (GRCm39) |
N141Y |
probably damaging |
Het |
| Slit1 |
A |
T |
19: 41,625,922 (GRCm39) |
D613E |
probably benign |
Het |
| Spata22 |
A |
T |
11: 73,231,079 (GRCm39) |
Y111F |
probably benign |
Het |
| Tchh |
C |
A |
3: 93,351,225 (GRCm39) |
R222S |
unknown |
Het |
| Tekt3 |
A |
G |
11: 62,985,523 (GRCm39) |
D443G |
possibly damaging |
Het |
| Tns2 |
A |
T |
15: 102,015,554 (GRCm39) |
Q144L |
possibly damaging |
Het |
| Troap |
T |
C |
15: 98,976,698 (GRCm39) |
V274A |
possibly damaging |
Het |
| Ugt1a8 |
A |
G |
1: 88,015,995 (GRCm39) |
Y136C |
probably damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,718,458 (GRCm39) |
M604L |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,597,639 (GRCm39) |
W1060R |
probably damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,042,926 (GRCm39) |
S1942P |
probably damaging |
Het |
| Wdr90 |
G |
A |
17: 26,065,577 (GRCm39) |
T1596I |
probably damaging |
Het |
| Zc3h4 |
A |
G |
7: 16,150,865 (GRCm39) |
E69G |
possibly damaging |
Het |
|
| Other mutations in Atp2a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- TGACACACTGCGCTGCTTAG -3'
(R):5'- AGGTCATCAAACTCACGGCC -3'
Sequencing Primer
(F):5'- TGCTTAGCCTTGGCCACCAG -3'
(R):5'- GGCCTTGCCCAACACATC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation