Incidental Mutation 'R4225:Atp2a2'
| ID |
320000 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp2a2
|
| Ensembl Gene |
ENSMUSG00000029467 |
| Gene Name |
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 |
| Synonyms |
SERCA2, Serca2a, D5Wsu150e, SERCA2B, sarco/endoplasmic reticulum Ca2+-ATPase 2, 9530097L16Rik |
| MMRRC Submission |
041045-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4225 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
122591576-122640288 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122607789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 240
(V240A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135935
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031423]
[ENSMUST00000177974]
[ENSMUST00000179939]
|
| AlphaFold |
O55143 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031423
AA Change: V240A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000031423
Gene: ENSMUSG00000029467
AA Change: V240A
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
probably benign
Transcript: ENSMUST00000177974
AA Change: V240A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000136104
Gene: ENSMUSG00000029467
AA Change: V240A
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
probably benign
Transcript: ENSMUST00000179939
AA Change: V240A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135935
Gene: ENSMUSG00000029467
AA Change: V240A
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Meta Mutation Damage Score |
0.0685 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
100% (38/38) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
C |
4: 53,085,106 (GRCm39) |
I569V |
possibly damaging |
Het |
| Aif1l |
A |
T |
2: 31,852,251 (GRCm39) |
S40C |
probably damaging |
Het |
| Arhgef26 |
A |
G |
3: 62,288,343 (GRCm39) |
D471G |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,983,932 (GRCm39) |
M3374T |
unknown |
Het |
| Ccdc66 |
A |
G |
14: 27,212,736 (GRCm39) |
L529P |
probably damaging |
Het |
| Ctif |
A |
G |
18: 75,568,308 (GRCm39) |
I610T |
probably benign |
Het |
| Ecpas |
A |
T |
4: 58,847,027 (GRCm39) |
Y512N |
probably damaging |
Het |
| Eif3c |
C |
G |
7: 126,165,471 (GRCm39) |
|
probably benign |
Het |
| Esyt1 |
T |
C |
10: 128,356,517 (GRCm39) |
Y376C |
probably damaging |
Het |
| Gba2 |
A |
T |
4: 43,569,464 (GRCm39) |
|
probably benign |
Het |
| Grin1 |
T |
C |
2: 25,187,332 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,814,735 (GRCm39) |
E2696G |
probably damaging |
Het |
| Itgal |
A |
T |
7: 126,904,484 (GRCm39) |
K319M |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,583,460 (GRCm39) |
C683R |
probably damaging |
Het |
| Lrig1 |
T |
A |
6: 94,599,639 (GRCm39) |
I348F |
probably damaging |
Het |
| Mc3r |
G |
A |
2: 172,090,954 (GRCm39) |
V59M |
probably damaging |
Het |
| Msh3 |
T |
C |
13: 92,422,431 (GRCm39) |
K575R |
probably benign |
Het |
| Musk |
A |
T |
4: 58,373,240 (GRCm39) |
M714L |
probably damaging |
Het |
| Odad2 |
A |
G |
18: 7,181,732 (GRCm39) |
|
probably null |
Het |
| Pcdhgb7 |
T |
A |
18: 37,886,856 (GRCm39) |
D675E |
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,812,497 (GRCm39) |
I3810T |
possibly damaging |
Het |
| Pou2f1 |
T |
C |
1: 165,738,889 (GRCm39) |
I177V |
possibly damaging |
Het |
| Rb1 |
T |
C |
14: 73,506,631 (GRCm39) |
M373V |
possibly damaging |
Het |
| Ric1 |
A |
G |
19: 29,580,131 (GRCm39) |
N1311D |
possibly damaging |
Het |
| Scn3a |
A |
G |
2: 65,366,771 (GRCm39) |
Y84H |
probably damaging |
Het |
| Slc25a45 |
A |
T |
19: 5,930,146 (GRCm39) |
I39F |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,956,781 (GRCm39) |
F86L |
probably damaging |
Het |
| Spdya |
G |
A |
17: 71,869,519 (GRCm39) |
V105I |
probably benign |
Het |
| Sspo |
G |
T |
6: 48,428,091 (GRCm39) |
V313L |
possibly damaging |
Het |
| Stard9 |
A |
G |
2: 120,495,472 (GRCm39) |
T116A |
possibly damaging |
Het |
| Stpg2 |
G |
A |
3: 138,921,053 (GRCm39) |
R86Q |
probably damaging |
Het |
| Tdrd6 |
C |
T |
17: 43,936,864 (GRCm39) |
D1395N |
probably damaging |
Het |
| Vmn2r101 |
T |
A |
17: 19,831,951 (GRCm39) |
I649N |
probably damaging |
Het |
| Zcchc18 |
A |
T |
X: 135,895,415 (GRCm39) |
N10I |
probably damaging |
Het |
|
| Other mutations in Atp2a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00576:Atp2a2
|
APN |
5 |
122,596,146 (GRCm39) |
splice site |
probably null |
|
|
IGL01459:Atp2a2
|
APN |
5 |
122,607,715 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01721:Atp2a2
|
APN |
5 |
122,638,855 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02614:Atp2a2
|
APN |
5 |
122,627,366 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02616:Atp2a2
|
APN |
5 |
122,599,747 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02826:Atp2a2
|
APN |
5 |
122,627,354 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02876:Atp2a2
|
APN |
5 |
122,604,071 (GRCm39) |
missense |
probably benign |
0.18 |
|
PIT4458001:Atp2a2
|
UTSW |
5 |
122,595,372 (GRCm39) |
nonsense |
probably null |
|
|
R0087:Atp2a2
|
UTSW |
5 |
122,599,024 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0139:Atp2a2
|
UTSW |
5 |
122,629,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0166:Atp2a2
|
UTSW |
5 |
122,604,901 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0457:Atp2a2
|
UTSW |
5 |
122,607,777 (GRCm39) |
missense |
probably benign |
|
|
R0658:Atp2a2
|
UTSW |
5 |
122,595,696 (GRCm39) |
splice site |
probably benign |
|
|
R0815:Atp2a2
|
UTSW |
5 |
122,609,299 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1282:Atp2a2
|
UTSW |
5 |
122,629,817 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1538:Atp2a2
|
UTSW |
5 |
122,595,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1985:Atp2a2
|
UTSW |
5 |
122,604,899 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2111:Atp2a2
|
UTSW |
5 |
122,597,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2517:Atp2a2
|
UTSW |
5 |
122,595,576 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4473:Atp2a2
|
UTSW |
5 |
122,595,327 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4956:Atp2a2
|
UTSW |
5 |
122,599,643 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4969:Atp2a2
|
UTSW |
5 |
122,596,554 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5242:Atp2a2
|
UTSW |
5 |
122,600,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5307:Atp2a2
|
UTSW |
5 |
122,599,810 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5497:Atp2a2
|
UTSW |
5 |
122,596,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5536:Atp2a2
|
UTSW |
5 |
122,595,245 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5629:Atp2a2
|
UTSW |
5 |
122,598,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5641:Atp2a2
|
UTSW |
5 |
122,595,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6365:Atp2a2
|
UTSW |
5 |
122,599,979 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6383:Atp2a2
|
UTSW |
5 |
122,639,712 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6534:Atp2a2
|
UTSW |
5 |
122,595,261 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7162:Atp2a2
|
UTSW |
5 |
122,627,387 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7259:Atp2a2
|
UTSW |
5 |
122,604,132 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7268:Atp2a2
|
UTSW |
5 |
122,605,792 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7465:Atp2a2
|
UTSW |
5 |
122,599,763 (GRCm39) |
missense |
probably benign |
|
|
R7489:Atp2a2
|
UTSW |
5 |
122,605,830 (GRCm39) |
missense |
probably benign |
|
|
R7567:Atp2a2
|
UTSW |
5 |
122,629,847 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7729:Atp2a2
|
UTSW |
5 |
122,629,829 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7734:Atp2a2
|
UTSW |
5 |
122,596,590 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7739:Atp2a2
|
UTSW |
5 |
122,607,768 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7743:Atp2a2
|
UTSW |
5 |
122,599,634 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7934:Atp2a2
|
UTSW |
5 |
122,599,639 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8822:Atp2a2
|
UTSW |
5 |
122,629,772 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9123:Atp2a2
|
UTSW |
5 |
122,604,918 (GRCm39) |
nonsense |
probably null |
|
|
R9132:Atp2a2
|
UTSW |
5 |
122,599,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9170:Atp2a2
|
UTSW |
5 |
122,604,087 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9254:Atp2a2
|
UTSW |
5 |
122,611,315 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9379:Atp2a2
|
UTSW |
5 |
122,611,315 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9694:Atp2a2
|
UTSW |
5 |
122,597,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTAGTAGATGGCACCCCTG -3'
(R):5'- CAGATCTGTAGGCAGGTTCC -3'
Sequencing Primer
(F):5'- TAGATGGCACCCCTGATCCAG -3'
(R):5'- TTCCCTGTGTGGAGAGCC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation