Incidental Mutation 'R6001:Atp2b2'
| ID |
480825 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp2b2
|
| Ensembl Gene |
ENSMUSG00000030302 |
| Gene Name |
ATPase, Ca++ transporting, plasma membrane 2 |
| Synonyms |
PMCA2, Gena300, wms, D6Abb2e, jog, Tmy |
| MMRRC Submission |
044180-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.902)
|
| Stock # |
R6001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
113720803-114019574 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 113770728 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 394
(Y394H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138165
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089003]
[ENSMUST00000101044]
[ENSMUST00000101045]
[ENSMUST00000152831]
[ENSMUST00000205052]
|
| AlphaFold |
Q9R0K7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089003
AA Change: Y394H
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000086398
Gene: ENSMUSG00000030302
AA Change: Y394H
| Domain | Start | End | E-Value | Type |
|---|
|
Cation_ATPase_N
|
47 |
123 |
1.21e-4 |
SMART |
|
Pfam:E1-E2_ATPase
|
156 |
444 |
1.7e-56 |
PFAM |
|
Pfam:Hydrolase
|
448 |
787 |
3.9e-25 |
PFAM |
|
Pfam:HAD
|
451 |
784 |
2.4e-16 |
PFAM |
|
Pfam:Hydrolase_like2
|
497 |
593 |
9.4e-17 |
PFAM |
|
Pfam:Hydrolase_3
|
745 |
820 |
1.7e-6 |
PFAM |
|
transmembrane domain
|
833 |
855 |
N/A |
INTRINSIC |
|
Pfam:Cation_ATPase_C
|
857 |
1039 |
7.3e-46 |
PFAM |
|
low complexity region
|
1057 |
1070 |
N/A |
INTRINSIC |
|
Pfam:ATP_Ca_trans_C
|
1081 |
1144 |
1.4e-31 |
PFAM |
|
low complexity region
|
1151 |
1166 |
N/A |
INTRINSIC |
|
low complexity region
|
1175 |
1189 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101044
AA Change: Y439H
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000098605
Gene: ENSMUSG00000030302
AA Change: Y439H
| Domain | Start | End | E-Value | Type |
|---|
|
Cation_ATPase_N
|
47 |
123 |
1.21e-4 |
SMART |
|
Pfam:E1-E2_ATPase
|
155 |
307 |
4.2e-28 |
PFAM |
|
low complexity region
|
313 |
330 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
356 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
373 |
488 |
1.4e-13 |
PFAM |
|
Pfam:Hydrolase
|
493 |
832 |
8.1e-16 |
PFAM |
|
Pfam:HAD
|
496 |
829 |
6.3e-21 |
PFAM |
|
Pfam:Cation_ATPase
|
542 |
638 |
4.4e-17 |
PFAM |
|
Pfam:Hydrolase_3
|
791 |
865 |
8.3e-7 |
PFAM |
|
transmembrane domain
|
878 |
900 |
N/A |
INTRINSIC |
|
Pfam:Cation_ATPase_C
|
902 |
1084 |
2.5e-47 |
PFAM |
|
low complexity region
|
1102 |
1115 |
N/A |
INTRINSIC |
|
Pfam:ATP_Ca_trans_C
|
1126 |
1178 |
2.4e-30 |
PFAM |
|
low complexity region
|
1196 |
1211 |
N/A |
INTRINSIC |
|
low complexity region
|
1220 |
1234 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101045
AA Change: Y394H
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000098606
Gene: ENSMUSG00000030302
AA Change: Y394H
| Domain | Start | End | E-Value | Type |
|---|
|
Cation_ATPase_N
|
47 |
123 |
1.21e-4 |
SMART |
|
Pfam:E1-E2_ATPase
|
156 |
444 |
1.7e-56 |
PFAM |
|
Pfam:Hydrolase
|
448 |
787 |
3.9e-25 |
PFAM |
|
Pfam:HAD
|
451 |
784 |
2.4e-16 |
PFAM |
|
Pfam:Hydrolase_like2
|
497 |
593 |
9.4e-17 |
PFAM |
|
Pfam:Hydrolase_3
|
745 |
820 |
1.7e-6 |
PFAM |
|
transmembrane domain
|
833 |
855 |
N/A |
INTRINSIC |
|
Pfam:Cation_ATPase_C
|
857 |
1039 |
7.3e-46 |
PFAM |
|
low complexity region
|
1057 |
1070 |
N/A |
INTRINSIC |
|
Pfam:ATP_Ca_trans_C
|
1081 |
1144 |
1.4e-31 |
PFAM |
|
low complexity region
|
1151 |
1166 |
N/A |
INTRINSIC |
|
low complexity region
|
1175 |
1189 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152831
AA Change: Y394H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138165
Gene: ENSMUSG00000030302
AA Change: Y394H
| Domain | Start | End | E-Value | Type |
|---|
|
Cation_ATPase_N
|
47 |
123 |
1.21e-4 |
SMART |
|
Pfam:E1-E2_ATPase
|
156 |
444 |
6.1e-57 |
PFAM |
|
Pfam:Hydrolase
|
448 |
787 |
1.4e-25 |
PFAM |
|
Pfam:HAD
|
451 |
784 |
7.7e-17 |
PFAM |
|
Pfam:Hydrolase_like2
|
497 |
593 |
4.4e-17 |
PFAM |
|
Pfam:Hydrolase_3
|
745 |
820 |
4.2e-7 |
PFAM |
|
transmembrane domain
|
833 |
855 |
N/A |
INTRINSIC |
|
Pfam:Cation_ATPase_C
|
857 |
1039 |
2.7e-46 |
PFAM |
|
low complexity region
|
1057 |
1070 |
N/A |
INTRINSIC |
|
Pfam:ATP_Ca_trans_C
|
1081 |
1149 |
1.3e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204957
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205052
AA Change: Y394H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000145174
Gene: ENSMUSG00000030302
AA Change: Y394H
| Domain | Start | End | E-Value | Type |
|---|
|
Cation_ATPase_N
|
47 |
123 |
1.21e-4 |
SMART |
|
Pfam:E1-E2_ATPase
|
155 |
310 |
1.9e-28 |
PFAM |
|
Pfam:E1-E2_ATPase
|
328 |
443 |
1.1e-13 |
PFAM |
|
Pfam:HAD
|
451 |
780 |
2.7e-19 |
PFAM |
|
Pfam:Cation_ATPase
|
497 |
593 |
5.8e-17 |
PFAM |
|
Pfam:Hydrolase
|
576 |
783 |
2e-8 |
PFAM |
|
Pfam:Hydrolase_3
|
711 |
816 |
2.3e-7 |
PFAM |
|
transmembrane domain
|
829 |
851 |
N/A |
INTRINSIC |
|
Pfam:Cation_ATPase_C
|
853 |
1035 |
2.5e-47 |
PFAM |
|
low complexity region
|
1053 |
1066 |
N/A |
INTRINSIC |
|
Pfam:ATP_Ca_trans_C
|
1077 |
1129 |
2.6e-30 |
PFAM |
|
low complexity region
|
1147 |
1162 |
N/A |
INTRINSIC |
|
low complexity region
|
1171 |
1185 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.8%
|
| Validation Efficiency |
|
| 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 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants exhibit slower growth, balance problems, and deafness, associated with cerebellar abnormalities, an absence of otoconia, and abnormalities of the organ of Corti. Heterozygotes exhibit appreciable age-dependent hearing loss. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
G |
T |
4: 53,075,555 (GRCm39) |
R999S |
possibly damaging |
Het |
| Ankrd31 |
T |
A |
13: 96,962,717 (GRCm39) |
Y503N |
probably damaging |
Het |
| Anks4b |
A |
G |
7: 119,781,941 (GRCm39) |
E324G |
probably benign |
Het |
| Arhgap44 |
CTGCT |
CTGCTTGCT |
11: 64,922,910 (GRCm39) |
|
probably null |
Het |
| Atl1 |
A |
T |
12: 69,979,057 (GRCm39) |
T162S |
possibly damaging |
Het |
| Dennd2d |
A |
G |
3: 106,399,776 (GRCm39) |
H233R |
probably benign |
Het |
| Dhx16 |
G |
T |
17: 36,194,766 (GRCm39) |
M462I |
probably damaging |
Het |
| Hif3a |
T |
C |
7: 16,784,486 (GRCm39) |
Y253C |
probably damaging |
Het |
| Hsf4 |
G |
A |
8: 105,999,541 (GRCm39) |
G277R |
possibly damaging |
Het |
| Impg1 |
T |
C |
9: 80,223,454 (GRCm39) |
D754G |
probably benign |
Het |
| Keap1 |
T |
C |
9: 21,142,135 (GRCm39) |
S580G |
possibly damaging |
Het |
| Lrp6 |
T |
C |
6: 134,441,481 (GRCm39) |
K1162E |
probably benign |
Het |
| Lrrc31 |
C |
T |
3: 30,745,318 (GRCm39) |
V110I |
possibly damaging |
Het |
| Muc5b |
G |
T |
7: 141,426,118 (GRCm39) |
K4738N |
possibly damaging |
Het |
| Myo1a |
G |
T |
10: 127,542,794 (GRCm39) |
|
probably null |
Het |
| Odad2 |
T |
C |
18: 7,286,838 (GRCm39) |
D131G |
probably benign |
Het |
| Or10q1b |
A |
G |
19: 13,682,424 (GRCm39) |
T78A |
probably damaging |
Het |
| Or52z14 |
T |
A |
7: 103,253,179 (GRCm39) |
M106K |
probably damaging |
Het |
| Or7g19 |
A |
T |
9: 18,856,340 (GRCm39) |
Y132F |
probably damaging |
Het |
| Parp4 |
A |
T |
14: 56,878,740 (GRCm39) |
H1225L |
probably benign |
Het |
| Pcgf2 |
T |
C |
11: 97,583,606 (GRCm39) |
Y52C |
possibly damaging |
Het |
| Pkn3 |
T |
C |
2: 29,978,596 (GRCm39) |
|
probably null |
Het |
| Psen2 |
C |
A |
1: 180,073,234 (GRCm39) |
R29L |
possibly damaging |
Het |
| Rfx6 |
A |
G |
10: 51,594,307 (GRCm39) |
|
probably null |
Het |
| Rps13 |
T |
C |
7: 115,930,808 (GRCm39) |
T145A |
probably benign |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
A |
ACGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
| Smarca4 |
C |
T |
9: 21,544,205 (GRCm39) |
|
probably benign |
Het |
| Stat4 |
A |
T |
1: 52,136,026 (GRCm39) |
E445V |
probably damaging |
Het |
| Taf13 |
T |
A |
3: 108,488,387 (GRCm39) |
I90N |
probably damaging |
Het |
| Tas2r124 |
T |
A |
6: 132,732,416 (GRCm39) |
Y242N |
probably damaging |
Het |
| Tmem151b |
T |
C |
17: 45,856,711 (GRCm39) |
Y243C |
probably damaging |
Het |
| Wasl |
T |
C |
6: 24,619,573 (GRCm39) |
T316A |
unknown |
Het |
| Zbtb44 |
T |
C |
9: 30,965,090 (GRCm39) |
C167R |
probably damaging |
Het |
| Zc3h7b |
T |
C |
15: 81,676,236 (GRCm39) |
L714P |
possibly damaging |
Het |
| Zfp35 |
T |
A |
18: 24,135,816 (GRCm39) |
H53Q |
probably benign |
Het |
| Zfp804b |
A |
G |
5: 6,819,043 (GRCm39) |
V1340A |
probably benign |
Het |
|
| Other mutations in Atp2b2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00802:Atp2b2
|
APN |
6 |
113,782,476 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01140:Atp2b2
|
APN |
6 |
113,766,932 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02065:Atp2b2
|
APN |
6 |
113,790,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02267:Atp2b2
|
APN |
6 |
113,770,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02383:Atp2b2
|
APN |
6 |
113,790,903 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02498:Atp2b2
|
APN |
6 |
113,770,815 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02631:Atp2b2
|
APN |
6 |
113,725,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03028:Atp2b2
|
APN |
6 |
113,736,103 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03221:Atp2b2
|
APN |
6 |
113,737,820 (GRCm39) |
splice site |
probably benign |
|
|
IGL03290:Atp2b2
|
APN |
6 |
113,770,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
johan
|
UTSW |
6 |
113,750,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
lohan
|
UTSW |
6 |
113,737,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02799:Atp2b2
|
UTSW |
6 |
113,739,813 (GRCm39) |
nonsense |
probably null |
|
|
R0116:Atp2b2
|
UTSW |
6 |
113,770,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0131:Atp2b2
|
UTSW |
6 |
113,770,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0131:Atp2b2
|
UTSW |
6 |
113,770,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0132:Atp2b2
|
UTSW |
6 |
113,770,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0195:Atp2b2
|
UTSW |
6 |
113,770,835 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0421:Atp2b2
|
UTSW |
6 |
113,790,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0791:Atp2b2
|
UTSW |
6 |
113,750,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0792:Atp2b2
|
UTSW |
6 |
113,750,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1033:Atp2b2
|
UTSW |
6 |
113,770,849 (GRCm39) |
splice site |
probably null |
|
|
R1248:Atp2b2
|
UTSW |
6 |
113,794,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1524:Atp2b2
|
UTSW |
6 |
113,751,162 (GRCm39) |
splice site |
probably benign |
|
|
R1809:Atp2b2
|
UTSW |
6 |
113,780,704 (GRCm39) |
intron |
probably benign |
|
|
R1829:Atp2b2
|
UTSW |
6 |
113,750,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1854:Atp2b2
|
UTSW |
6 |
113,819,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2127:Atp2b2
|
UTSW |
6 |
113,737,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2138:Atp2b2
|
UTSW |
6 |
113,773,268 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2351:Atp2b2
|
UTSW |
6 |
113,766,718 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3923:Atp2b2
|
UTSW |
6 |
113,774,069 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3951:Atp2b2
|
UTSW |
6 |
113,737,792 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4178:Atp2b2
|
UTSW |
6 |
113,770,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4353:Atp2b2
|
UTSW |
6 |
113,742,745 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4578:Atp2b2
|
UTSW |
6 |
113,737,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4797:Atp2b2
|
UTSW |
6 |
113,766,847 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4884:Atp2b2
|
UTSW |
6 |
113,819,147 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4976:Atp2b2
|
UTSW |
6 |
113,736,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5273:Atp2b2
|
UTSW |
6 |
113,736,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5350:Atp2b2
|
UTSW |
6 |
113,736,199 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5414:Atp2b2
|
UTSW |
6 |
113,819,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5560:Atp2b2
|
UTSW |
6 |
113,751,319 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5589:Atp2b2
|
UTSW |
6 |
113,751,400 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5790:Atp2b2
|
UTSW |
6 |
113,736,270 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6127:Atp2b2
|
UTSW |
6 |
113,790,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6331:Atp2b2
|
UTSW |
6 |
113,774,092 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6925:Atp2b2
|
UTSW |
6 |
113,737,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7231:Atp2b2
|
UTSW |
6 |
113,742,693 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8219:Atp2b2
|
UTSW |
6 |
113,770,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8233:Atp2b2
|
UTSW |
6 |
113,742,680 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8286:Atp2b2
|
UTSW |
6 |
113,819,275 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8369:Atp2b2
|
UTSW |
6 |
113,790,747 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8444:Atp2b2
|
UTSW |
6 |
113,770,772 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8942:Atp2b2
|
UTSW |
6 |
113,790,991 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8953:Atp2b2
|
UTSW |
6 |
113,737,630 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8977:Atp2b2
|
UTSW |
6 |
113,750,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9051:Atp2b2
|
UTSW |
6 |
113,740,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9399:Atp2b2
|
UTSW |
6 |
113,780,713 (GRCm39) |
missense |
probably benign |
|
|
R9648:Atp2b2
|
UTSW |
6 |
113,780,707 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0020:Atp2b2
|
UTSW |
6 |
113,782,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Atp2b2
|
UTSW |
6 |
113,782,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Atp2b2
|
UTSW |
6 |
113,819,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGTCACACATTTCGTAGCC -3'
(R):5'- AGCAGTTTAGTGAACATCTCCCC -3'
Sequencing Primer
(F):5'- TTCGTAGCCCATCTACAAAGTACTAG -3'
(R):5'- ACTCTACTTCACCGTGGA -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation