Incidental Mutation 'R3113:Atp2a1'
| ID |
263879 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp2a1
|
| Ensembl Gene |
ENSMUSG00000030730 |
| Gene Name |
ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 |
| Synonyms |
SERCA1 |
| MMRRC Submission |
040586-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3113 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
126045032-126062245 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 126047541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 705
(V705D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032974
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032974]
[ENSMUST00000106405]
[ENSMUST00000106407]
|
| AlphaFold |
Q8R429 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032974
AA Change: V705D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032974
Gene: ENSMUSG00000030730
AA Change: V705D
| Domain | Start | End | E-Value | Type |
|---|
|
Cation_ATPase_N
|
3 |
77 |
4.39e-16 |
SMART |
|
Pfam:E1-E2_ATPase
|
92 |
340 |
1.5e-66 |
PFAM |
|
Pfam:Hydrolase
|
345 |
715 |
7.5e-20 |
PFAM |
|
Pfam:HAD
|
348 |
712 |
1.2e-18 |
PFAM |
|
Pfam:Cation_ATPase
|
418 |
528 |
3.2e-23 |
PFAM |
|
Pfam:Hydrolase_3
|
683 |
747 |
2.3e-7 |
PFAM |
|
Pfam:Cation_ATPase_C
|
784 |
987 |
4.8e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106405
|
| SMART Domains |
Protein: ENSMUSP00000102013
Gene: ENSMUSG00000030727
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rabaptin
|
2 |
107 |
1.4e-41 |
PFAM |
|
low complexity region
|
139 |
158 |
N/A |
INTRINSIC |
|
low complexity region
|
175 |
194 |
N/A |
INTRINSIC |
|
Pfam:Rabaptin
|
196 |
311 |
5.9e-10 |
PFAM |
|
Pfam:Rab5-bind
|
289 |
456 |
4.6e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106407
|
| SMART Domains |
Protein: ENSMUSP00000102015
Gene: ENSMUSG00000030727
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rabaptin
|
13 |
171 |
1.4e-39 |
PFAM |
|
low complexity region
|
182 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
237 |
N/A |
INTRINSIC |
|
Pfam:Rab5-bind
|
274 |
487 |
4.1e-21 |
PFAM |
|
Pfam:Rab5-bind
|
469 |
531 |
1.6e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133300
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146973
|
| SMART Domains |
Protein: ENSMUSP00000119018
Gene: ENSMUSG00000030730
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cation_ATPase_C
|
6 |
132 |
6.3e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148536
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151304
|
| Meta Mutation Damage Score |
0.9701 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (59/59) |
| 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 muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013]
PHENOTYPE: Homozygous mutation of this gene results in perinatal lethality. Mutant neonates display respiratory distress, progressive cyanosis, and die within 30 minutes-2 hours after birth. Lung tissues and the diaphragm muscle show aberrant morphology. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(1)
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
T |
A |
10: 29,100,372 (GRCm39) |
Y248* |
probably null |
Het |
| Acta2 |
T |
C |
19: 34,220,752 (GRCm39) |
I319V |
probably benign |
Het |
| Alox15 |
A |
T |
11: 70,235,703 (GRCm39) |
N585K |
probably benign |
Het |
| Ank |
T |
A |
15: 27,571,700 (GRCm39) |
I324N |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,574,813 (GRCm39) |
N99D |
probably damaging |
Het |
| As3mt |
T |
C |
19: 46,703,717 (GRCm39) |
|
probably benign |
Het |
| Atg4b |
C |
T |
1: 93,703,426 (GRCm39) |
|
probably benign |
Het |
| Bves |
T |
C |
10: 45,219,148 (GRCm39) |
V82A |
probably benign |
Het |
| Cad |
C |
A |
5: 31,231,481 (GRCm39) |
H7Q |
possibly damaging |
Het |
| Carmil1 |
A |
G |
13: 24,253,740 (GRCm39) |
V387A |
probably benign |
Het |
| Csnk2a1 |
T |
A |
2: 152,105,134 (GRCm39) |
F181Y |
probably damaging |
Het |
| Cwc22 |
A |
T |
2: 77,754,823 (GRCm39) |
|
probably benign |
Het |
| Ddx18 |
A |
G |
1: 121,493,877 (GRCm39) |
S36P |
possibly damaging |
Het |
| Dnai2 |
T |
A |
11: 114,642,756 (GRCm39) |
|
probably null |
Het |
| Ehbp1l1 |
A |
T |
19: 5,769,008 (GRCm39) |
M765K |
probably benign |
Het |
| Fitm2 |
T |
C |
2: 163,311,511 (GRCm39) |
Y234C |
probably damaging |
Het |
| Flrt3 |
T |
C |
2: 140,503,454 (GRCm39) |
E58G |
probably benign |
Het |
| Foxs1 |
A |
G |
2: 152,774,156 (GRCm39) |
V299A |
probably benign |
Het |
| Galnt12 |
A |
G |
4: 47,108,415 (GRCm39) |
N184S |
probably benign |
Het |
| Gata6 |
T |
C |
18: 11,063,124 (GRCm39) |
L464P |
probably damaging |
Het |
| Gm17332 |
T |
C |
11: 31,132,384 (GRCm39) |
T27A |
possibly damaging |
Het |
| Ifna11 |
A |
C |
4: 88,738,220 (GRCm39) |
M9L |
probably benign |
Het |
| Ldb3 |
T |
A |
14: 34,251,418 (GRCm39) |
*623L |
probably null |
Het |
| Lrrc27 |
A |
G |
7: 138,798,223 (GRCm39) |
D106G |
probably damaging |
Het |
| Ly6f |
A |
G |
15: 75,143,577 (GRCm39) |
N95D |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,844,512 (GRCm39) |
I1901V |
probably benign |
Het |
| Mboat2 |
A |
G |
12: 24,932,718 (GRCm39) |
Y70C |
probably damaging |
Het |
| Mmut |
G |
A |
17: 41,269,247 (GRCm39) |
G610D |
probably damaging |
Het |
| Mroh1 |
T |
A |
15: 76,292,736 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,399,871 (GRCm39) |
H448R |
unknown |
Het |
| Myh2 |
A |
G |
11: 67,076,012 (GRCm39) |
N733S |
probably damaging |
Het |
| Nid2 |
G |
A |
14: 19,828,111 (GRCm39) |
G516S |
probably benign |
Het |
| Nlrp1a |
A |
T |
11: 71,014,491 (GRCm39) |
I253N |
probably damaging |
Het |
| Ocrl |
A |
G |
X: 47,022,304 (GRCm39) |
E258G |
probably benign |
Het |
| Or2w1 |
T |
A |
13: 21,317,299 (GRCm39) |
M118K |
probably damaging |
Het |
| Or6c2 |
A |
T |
10: 129,363,012 (GRCm39) |
R305S |
probably benign |
Het |
| Pak1 |
C |
A |
7: 97,515,321 (GRCm39) |
S115* |
probably null |
Het |
| Pilrb1 |
C |
T |
5: 137,853,195 (GRCm39) |
V203I |
possibly damaging |
Het |
| Ppfia2 |
T |
A |
10: 106,742,256 (GRCm39) |
Y1016* |
probably null |
Het |
| Prmt3 |
C |
A |
7: 49,431,760 (GRCm39) |
P121Q |
probably damaging |
Het |
| Rhox6 |
T |
A |
X: 36,916,507 (GRCm39) |
I116N |
possibly damaging |
Het |
| Saxo2 |
A |
C |
7: 82,292,949 (GRCm39) |
F49L |
probably benign |
Het |
| Scn2a |
A |
C |
2: 65,579,129 (GRCm39) |
D1488A |
possibly damaging |
Het |
| Scn5a |
T |
A |
9: 119,314,738 (GRCm39) |
D1989V |
probably damaging |
Het |
| Sec31b |
C |
A |
19: 44,506,624 (GRCm39) |
E905* |
probably null |
Het |
| Secisbp2l |
A |
T |
2: 125,592,206 (GRCm39) |
F672I |
probably damaging |
Het |
| Slc22a23 |
C |
T |
13: 34,367,058 (GRCm39) |
G650E |
probably damaging |
Het |
| Smu1 |
A |
G |
4: 40,748,658 (GRCm39) |
F211L |
probably benign |
Het |
| Spef1l |
G |
T |
7: 139,555,878 (GRCm39) |
|
probably benign |
Het |
| Tab1 |
C |
T |
15: 80,032,461 (GRCm39) |
L23F |
probably benign |
Het |
| Thsd7b |
G |
A |
1: 129,977,599 (GRCm39) |
C1078Y |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,644,542 (GRCm39) |
Y13071N |
probably damaging |
Het |
| Usp17ld |
A |
G |
7: 102,899,870 (GRCm39) |
V354A |
probably benign |
Het |
| Usp31 |
A |
G |
7: 121,278,736 (GRCm39) |
S210P |
probably damaging |
Het |
| Wdr12 |
T |
C |
1: 60,126,221 (GRCm39) |
D198G |
probably benign |
Het |
| Wrap53 |
A |
G |
11: 69,454,144 (GRCm39) |
V298A |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,340,491 (GRCm39) |
I911V |
probably benign |
Het |
| Zcchc2 |
T |
C |
1: 105,918,752 (GRCm39) |
M78T |
unknown |
Het |
|
| Other mutations in Atp2a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00430:Atp2a1
|
APN |
7 |
126,046,388 (GRCm39) |
nonsense |
probably null |
|
|
IGL00474:Atp2a1
|
APN |
7 |
126,049,466 (GRCm39) |
nonsense |
probably null |
|
|
IGL00500:Atp2a1
|
APN |
7 |
126,046,388 (GRCm39) |
nonsense |
probably null |
|
|
IGL01112:Atp2a1
|
APN |
7 |
126,049,479 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01380:Atp2a1
|
APN |
7 |
126,047,942 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01503:Atp2a1
|
APN |
7 |
126,047,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01630:Atp2a1
|
APN |
7 |
126,049,437 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01679:Atp2a1
|
APN |
7 |
126,055,981 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01729:Atp2a1
|
APN |
7 |
126,057,106 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02290:Atp2a1
|
APN |
7 |
126,051,821 (GRCm39) |
splice site |
probably benign |
|
|
IGL02929:Atp2a1
|
APN |
7 |
126,056,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02951:Atp2a1
|
APN |
7 |
126,049,399 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL03249:Atp2a1
|
APN |
7 |
126,061,977 (GRCm39) |
missense |
probably benign |
0.12 |
|
1mM(1):Atp2a1
|
UTSW |
7 |
126,046,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0052:Atp2a1
|
UTSW |
7 |
126,057,069 (GRCm39) |
splice site |
probably benign |
|
|
R0052:Atp2a1
|
UTSW |
7 |
126,057,069 (GRCm39) |
splice site |
probably benign |
|
|
R0070:Atp2a1
|
UTSW |
7 |
126,046,624 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0070:Atp2a1
|
UTSW |
7 |
126,046,624 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0121:Atp2a1
|
UTSW |
7 |
126,057,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0398:Atp2a1
|
UTSW |
7 |
126,049,590 (GRCm39) |
unclassified |
probably benign |
|
|
R0578:Atp2a1
|
UTSW |
7 |
126,049,315 (GRCm39) |
missense |
probably benign |
|
|
R0626:Atp2a1
|
UTSW |
7 |
126,046,162 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0739:Atp2a1
|
UTSW |
7 |
126,047,428 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1558:Atp2a1
|
UTSW |
7 |
126,051,844 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1700:Atp2a1
|
UTSW |
7 |
126,062,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1748:Atp2a1
|
UTSW |
7 |
126,058,780 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1799:Atp2a1
|
UTSW |
7 |
126,049,314 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1808:Atp2a1
|
UTSW |
7 |
126,052,573 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2058:Atp2a1
|
UTSW |
7 |
126,046,844 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2143:Atp2a1
|
UTSW |
7 |
126,047,897 (GRCm39) |
nonsense |
probably null |
|
|
R2427:Atp2a1
|
UTSW |
7 |
126,045,755 (GRCm39) |
makesense |
probably null |
|
|
R4501:Atp2a1
|
UTSW |
7 |
126,052,555 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4604:Atp2a1
|
UTSW |
7 |
126,047,795 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4934:Atp2a1
|
UTSW |
7 |
126,052,600 (GRCm39) |
missense |
probably benign |
|
|
R4939:Atp2a1
|
UTSW |
7 |
126,049,288 (GRCm39) |
missense |
probably benign |
|
|
R5646:Atp2a1
|
UTSW |
7 |
126,052,277 (GRCm39) |
missense |
probably benign |
|
|
R6093:Atp2a1
|
UTSW |
7 |
126,046,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6556:Atp2a1
|
UTSW |
7 |
126,049,434 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6908:Atp2a1
|
UTSW |
7 |
126,047,707 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6911:Atp2a1
|
UTSW |
7 |
126,056,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7206:Atp2a1
|
UTSW |
7 |
126,047,144 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7354:Atp2a1
|
UTSW |
7 |
126,048,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7363:Atp2a1
|
UTSW |
7 |
126,062,061 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7501:Atp2a1
|
UTSW |
7 |
126,049,344 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7560:Atp2a1
|
UTSW |
7 |
126,058,828 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7716:Atp2a1
|
UTSW |
7 |
126,061,359 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7772:Atp2a1
|
UTSW |
7 |
126,047,707 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8039:Atp2a1
|
UTSW |
7 |
126,047,977 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8391:Atp2a1
|
UTSW |
7 |
126,047,888 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8478:Atp2a1
|
UTSW |
7 |
126,047,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9020:Atp2a1
|
UTSW |
7 |
126,046,135 (GRCm39) |
missense |
probably benign |
|
|
X0022:Atp2a1
|
UTSW |
7 |
126,047,422 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
X0060:Atp2a1
|
UTSW |
7 |
126,062,054 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCACATTGGAGGAGATGAG -3'
(R):5'- TTGTGGAGTACCTGCAGTCC -3'
Sequencing Primer
(F):5'- CCACATTGGAGGAGATGAGGTAGC -3'
(R):5'- GTACCTGCAGTCCTACGATGAGATC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation