Incidental Mutation 'IGL01721:Atp2a2'
| ID |
105109 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01721
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
122591576-122640288 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122638855 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 53
(V53A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135935
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031423]
[ENSMUST00000177974]
[ENSMUST00000179939]
|
| AlphaFold |
O55143 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031423
AA Change: V53A
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000031423
Gene: ENSMUSG00000029467
AA Change: V53A
| 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 |
possibly damaging
Transcript: ENSMUST00000177974
AA Change: V53A
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000136104
Gene: ENSMUSG00000029467
AA Change: V53A
| 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 |
possibly damaging
Transcript: ENSMUST00000179939
AA Change: V53A
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135935
Gene: ENSMUSG00000029467
AA Change: V53A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196490
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196562
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197415
|
| 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 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700088E04Rik |
T |
C |
15: 79,023,453 (GRCm39) |
M51V |
possibly damaging |
Het |
| Acad8 |
A |
G |
9: 26,903,563 (GRCm39) |
|
probably benign |
Het |
| Bicra |
T |
C |
7: 15,722,624 (GRCm39) |
T298A |
probably benign |
Het |
| Ccdc185 |
C |
T |
1: 182,576,543 (GRCm39) |
E49K |
possibly damaging |
Het |
| Cfhr2 |
A |
G |
1: 139,741,352 (GRCm39) |
S208P |
probably benign |
Het |
| Chd1 |
T |
C |
17: 15,990,430 (GRCm39) |
Y1661H |
probably damaging |
Het |
| Cntnap5a |
A |
G |
1: 116,085,367 (GRCm39) |
H435R |
probably benign |
Het |
| Cog8 |
A |
G |
8: 107,780,697 (GRCm39) |
V187A |
probably benign |
Het |
| Col24a1 |
A |
G |
3: 145,244,322 (GRCm39) |
H1532R |
probably benign |
Het |
| Dpp6 |
A |
G |
5: 27,836,518 (GRCm39) |
Y336C |
probably damaging |
Het |
| Drosha |
T |
A |
15: 12,846,198 (GRCm39) |
Y444* |
probably null |
Het |
| Egf |
A |
T |
3: 129,491,371 (GRCm39) |
C374* |
probably null |
Het |
| Eif2b3 |
C |
T |
4: 116,916,001 (GRCm39) |
H203Y |
probably damaging |
Het |
| Erbb4 |
A |
G |
1: 68,293,722 (GRCm39) |
V723A |
possibly damaging |
Het |
| Fbxo21 |
T |
C |
5: 118,126,855 (GRCm39) |
I202T |
probably benign |
Het |
| Gbp6 |
T |
C |
5: 105,422,073 (GRCm39) |
M544V |
probably benign |
Het |
| Gm10750 |
T |
C |
2: 148,857,964 (GRCm39) |
T96A |
unknown |
Het |
| Gm8232 |
A |
T |
14: 44,674,640 (GRCm39) |
|
probably null |
Het |
| Gpi-ps |
A |
T |
8: 5,689,896 (GRCm39) |
|
noncoding transcript |
Het |
| Gsdma3 |
T |
C |
11: 98,528,782 (GRCm39) |
V412A |
possibly damaging |
Het |
| Hs6st1 |
A |
T |
1: 36,108,016 (GRCm39) |
H93L |
probably damaging |
Het |
| Hsf2 |
G |
A |
10: 57,372,277 (GRCm39) |
E77K |
probably benign |
Het |
| Ing3 |
T |
A |
6: 21,968,879 (GRCm39) |
|
probably benign |
Het |
| Ints6 |
T |
C |
14: 62,951,188 (GRCm39) |
I280M |
probably damaging |
Het |
| Kazn |
C |
A |
4: 141,886,354 (GRCm39) |
|
probably null |
Het |
| Klhl20 |
T |
C |
1: 160,923,157 (GRCm39) |
Y13C |
probably damaging |
Het |
| Krtap26-1 |
G |
A |
16: 88,444,060 (GRCm39) |
P187L |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,765,720 (GRCm39) |
I1329K |
probably damaging |
Het |
| Mindy4 |
A |
G |
6: 55,200,984 (GRCm39) |
D223G |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,128,001 (GRCm39) |
E124G |
probably damaging |
Het |
| Nfat5 |
G |
A |
8: 108,071,611 (GRCm39) |
|
probably null |
Het |
| Nkain1 |
A |
G |
4: 130,532,134 (GRCm38) |
F184L |
probably benign |
Het |
| Or8k25 |
T |
C |
2: 86,243,677 (GRCm39) |
T240A |
probably damaging |
Het |
| Rars1 |
A |
T |
11: 35,719,491 (GRCm39) |
F110L |
probably damaging |
Het |
| Rfx6 |
A |
C |
10: 51,599,173 (GRCm39) |
K509N |
probably damaging |
Het |
| Serpinb2 |
T |
C |
1: 107,443,333 (GRCm39) |
L44P |
probably damaging |
Het |
| Sin3a |
G |
A |
9: 57,002,609 (GRCm39) |
R167Q |
probably damaging |
Het |
| Sos2 |
T |
A |
12: 69,650,641 (GRCm39) |
T809S |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,533,811 (GRCm39) |
E3356G |
probably damaging |
Het |
| Vmn1r52 |
A |
G |
6: 90,155,905 (GRCm39) |
T70A |
probably benign |
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 |
|
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 |
|
R4225:Atp2a2
|
UTSW |
5 |
122,607,789 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation