Incidental Mutation 'R6496:Atp2b1'
| ID |
523030 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp2b1
|
| Ensembl Gene |
ENSMUSG00000019943 |
| Gene Name |
ATPase, Ca++ transporting, plasma membrane 1 |
| Synonyms |
PMCA1, 2810442I22Rik, E130111D10Rik |
| MMRRC Submission |
044628-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6496 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
98750268-98862005 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 98839199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 676
(C676S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020107
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020107]
|
| AlphaFold |
G5E829 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020107
AA Change: C676S
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000020107
Gene: ENSMUSG00000019943
AA Change: C676S
| Domain | Start | End | E-Value | Type |
|---|
|
Cation_ATPase_N
|
50 |
126 |
1.8e-3 |
SMART |
|
low complexity region
|
138 |
156 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
157 |
312 |
1.5e-28 |
PFAM |
|
Pfam:E1-E2_ATPase
|
348 |
464 |
1.4e-13 |
PFAM |
|
Pfam:HAD
|
472 |
806 |
6.9e-22 |
PFAM |
|
Pfam:Cation_ATPase
|
492 |
614 |
8.8e-17 |
PFAM |
|
Pfam:Hydrolase
|
605 |
809 |
5.8e-14 |
PFAM |
|
Pfam:Hydrolase_3
|
764 |
842 |
7.2e-7 |
PFAM |
|
transmembrane domain
|
855 |
877 |
N/A |
INTRINSIC |
|
Pfam:Cation_ATPase_C
|
879 |
1061 |
1.2e-47 |
PFAM |
|
low complexity region
|
1079 |
1092 |
N/A |
INTRINSIC |
|
Pfam:ATP_Ca_trans_C
|
1103 |
1155 |
7.5e-31 |
PFAM |
|
low complexity region
|
1176 |
1188 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000219090
AA Change: C95S
|
| Meta Mutation Damage Score |
0.6739 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.7%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
A |
2: 19,545,217 (GRCm39) |
T79S |
probably benign |
Het |
| Atp8b5 |
T |
C |
4: 43,371,003 (GRCm39) |
F1047L |
probably benign |
Het |
| B3gnt4 |
G |
A |
5: 123,649,654 (GRCm39) |
E340K |
probably benign |
Het |
| Casp8ap2 |
A |
C |
4: 32,641,553 (GRCm39) |
H869P |
probably benign |
Het |
| Cdh26 |
G |
A |
2: 178,091,654 (GRCm39) |
G71D |
probably damaging |
Het |
| Col4a2 |
G |
T |
8: 11,452,993 (GRCm39) |
G187* |
probably null |
Het |
| Col4a2 |
G |
T |
8: 11,452,994 (GRCm39) |
G187V |
probably damaging |
Het |
| Dsn1 |
A |
G |
2: 156,847,187 (GRCm39) |
S84P |
probably damaging |
Het |
| Edaradd |
T |
A |
13: 12,493,323 (GRCm39) |
D123V |
probably damaging |
Het |
| Epb41l1 |
T |
C |
2: 156,375,716 (GRCm39) |
S611P |
possibly damaging |
Het |
| Fam217a |
G |
A |
13: 35,094,785 (GRCm39) |
R234* |
probably null |
Het |
| Gm17175 |
A |
G |
14: 51,810,534 (GRCm39) |
I31T |
probably benign |
Het |
| Jtb |
T |
C |
3: 90,141,264 (GRCm39) |
V80A |
possibly damaging |
Het |
| Kera |
T |
A |
10: 97,448,672 (GRCm39) |
N297K |
probably benign |
Het |
| Klhl1 |
T |
C |
14: 96,477,652 (GRCm39) |
N472S |
probably benign |
Het |
| Lgmn |
T |
C |
12: 102,364,498 (GRCm39) |
T324A |
probably benign |
Het |
| Ndst3 |
A |
G |
3: 123,346,201 (GRCm39) |
I276T |
probably damaging |
Het |
| Nsd2 |
A |
G |
5: 34,000,857 (GRCm39) |
K125E |
probably damaging |
Het |
| Or10ag59 |
A |
C |
2: 87,405,460 (GRCm39) |
N11H |
probably damaging |
Het |
| Or6c33 |
T |
A |
10: 129,853,448 (GRCm39) |
S73T |
probably benign |
Het |
| Patj |
C |
A |
4: 98,304,989 (GRCm39) |
A281E |
probably damaging |
Het |
| Pcdha7 |
A |
G |
18: 37,107,638 (GRCm39) |
E221G |
possibly damaging |
Het |
| Plcd1 |
A |
G |
9: 118,901,709 (GRCm39) |
F605S |
possibly damaging |
Het |
| Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
| Pmfbp1 |
A |
G |
8: 110,258,789 (GRCm39) |
K698R |
probably null |
Het |
| Potefam1 |
T |
A |
2: 110,994,817 (GRCm39) |
H232L |
unknown |
Het |
| Psd |
G |
A |
19: 46,308,753 (GRCm39) |
R628C |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,176,633 (GRCm39) |
N1211S |
probably benign |
Het |
| Slc1a3 |
T |
A |
15: 8,679,065 (GRCm39) |
M177L |
probably benign |
Het |
| Slc34a1 |
T |
C |
13: 55,550,495 (GRCm39) |
S183P |
probably benign |
Het |
| Spata22 |
G |
A |
11: 73,231,189 (GRCm39) |
G148R |
probably damaging |
Het |
| Spata31f1a |
G |
T |
4: 42,848,424 (GRCm39) |
T1244K |
probably damaging |
Het |
| Tfap2a |
T |
C |
13: 40,882,251 (GRCm39) |
D18G |
probably damaging |
Het |
| Thoc7 |
T |
C |
14: 13,954,593 (GRCm38) |
N28S |
possibly damaging |
Het |
| Usp42 |
T |
C |
5: 143,700,858 (GRCm39) |
Y1055C |
probably damaging |
Het |
| Zfp874a |
A |
G |
13: 67,590,694 (GRCm39) |
V330A |
possibly damaging |
Het |
|
| Other mutations in Atp2b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00897:Atp2b1
|
APN |
10 |
98,850,882 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL00972:Atp2b1
|
APN |
10 |
98,850,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00977:Atp2b1
|
APN |
10 |
98,822,837 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01154:Atp2b1
|
APN |
10 |
98,832,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03073:Atp2b1
|
APN |
10 |
98,835,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03081:Atp2b1
|
APN |
10 |
98,830,675 (GRCm39) |
splice site |
probably benign |
|
|
PIT4453001:Atp2b1
|
UTSW |
10 |
98,852,840 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0157:Atp2b1
|
UTSW |
10 |
98,835,809 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0200:Atp2b1
|
UTSW |
10 |
98,815,676 (GRCm39) |
nonsense |
probably null |
|
|
R0899:Atp2b1
|
UTSW |
10 |
98,852,893 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0981:Atp2b1
|
UTSW |
10 |
98,851,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1163:Atp2b1
|
UTSW |
10 |
98,815,713 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1569:Atp2b1
|
UTSW |
10 |
98,823,188 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1572:Atp2b1
|
UTSW |
10 |
98,830,537 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1574:Atp2b1
|
UTSW |
10 |
98,832,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1574:Atp2b1
|
UTSW |
10 |
98,832,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1721:Atp2b1
|
UTSW |
10 |
98,832,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1782:Atp2b1
|
UTSW |
10 |
98,839,063 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1840:Atp2b1
|
UTSW |
10 |
98,858,791 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1867:Atp2b1
|
UTSW |
10 |
98,832,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1868:Atp2b1
|
UTSW |
10 |
98,832,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1944:Atp2b1
|
UTSW |
10 |
98,858,793 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1984:Atp2b1
|
UTSW |
10 |
98,850,354 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2055:Atp2b1
|
UTSW |
10 |
98,850,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2325:Atp2b1
|
UTSW |
10 |
98,854,757 (GRCm39) |
nonsense |
probably null |
|
|
R2399:Atp2b1
|
UTSW |
10 |
98,835,785 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2876:Atp2b1
|
UTSW |
10 |
98,835,607 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3762:Atp2b1
|
UTSW |
10 |
98,845,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3776:Atp2b1
|
UTSW |
10 |
98,815,731 (GRCm39) |
frame shift |
probably null |
|
|
R3808:Atp2b1
|
UTSW |
10 |
98,839,010 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R3978:Atp2b1
|
UTSW |
10 |
98,832,795 (GRCm39) |
splice site |
probably null |
|
|
R4391:Atp2b1
|
UTSW |
10 |
98,839,076 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4825:Atp2b1
|
UTSW |
10 |
98,845,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5755:Atp2b1
|
UTSW |
10 |
98,830,671 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5755:Atp2b1
|
UTSW |
10 |
98,839,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6018:Atp2b1
|
UTSW |
10 |
98,846,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6179:Atp2b1
|
UTSW |
10 |
98,858,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6455:Atp2b1
|
UTSW |
10 |
98,852,842 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6786:Atp2b1
|
UTSW |
10 |
98,852,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6814:Atp2b1
|
UTSW |
10 |
98,858,877 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7034:Atp2b1
|
UTSW |
10 |
98,823,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7036:Atp2b1
|
UTSW |
10 |
98,823,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7079:Atp2b1
|
UTSW |
10 |
98,854,595 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7216:Atp2b1
|
UTSW |
10 |
98,822,839 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7510:Atp2b1
|
UTSW |
10 |
98,829,758 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7562:Atp2b1
|
UTSW |
10 |
98,858,667 (GRCm39) |
splice site |
probably null |
|
|
R7651:Atp2b1
|
UTSW |
10 |
98,852,830 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7739:Atp2b1
|
UTSW |
10 |
98,837,227 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8005:Atp2b1
|
UTSW |
10 |
98,830,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8111:Atp2b1
|
UTSW |
10 |
98,832,786 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8904:Atp2b1
|
UTSW |
10 |
98,804,866 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9419:Atp2b1
|
UTSW |
10 |
98,837,178 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9495:Atp2b1
|
UTSW |
10 |
98,835,660 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9506:Atp2b1
|
UTSW |
10 |
98,858,862 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9682:Atp2b1
|
UTSW |
10 |
98,815,662 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Z1177:Atp2b1
|
UTSW |
10 |
98,854,710 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGGCAAAAGTATTCCGACCC -3'
(R):5'- GGAGCTGCCTCACTGAATAG -3'
Sequencing Primer
(F):5'- CCAGAGACCGCGATGACATTG -3'
(R):5'- GCTGCCTCACTGAATAGCATAAAAAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation