Incidental Mutation 'R5454:Atp2b4'
| ID |
432649 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp2b4
|
| Ensembl Gene |
ENSMUSG00000026463 |
| Gene Name |
ATPase, Ca++ transporting, plasma membrane 4 |
| Synonyms |
PMCA4 |
| MMRRC Submission |
043018-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.440)
|
| Stock # |
R5454 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
133630411-133728797 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 133657610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 627
(V627F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133187
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048953]
[ENSMUST00000112264]
[ENSMUST00000125659]
[ENSMUST00000143567]
[ENSMUST00000165602]
|
| AlphaFold |
Q6Q477 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048953
AA Change: V627F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047978
Gene: ENSMUSG00000026463
AA Change: V627F
| Domain | Start | End | E-Value | Type |
|---|
|
Cation_ATPase_N
|
45 |
121 |
1.81e-8 |
SMART |
|
low complexity region
|
140 |
152 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
154 |
456 |
1.7e-58 |
PFAM |
|
Pfam:Hydrolase
|
460 |
798 |
3e-26 |
PFAM |
|
Pfam:HAD
|
463 |
795 |
7.4e-15 |
PFAM |
|
Pfam:Hydrolase_like2
|
510 |
605 |
3.6e-17 |
PFAM |
|
Pfam:Hydrolase_3
|
756 |
831 |
2.7e-6 |
PFAM |
|
Pfam:Cation_ATPase_C
|
868 |
1050 |
1.1e-43 |
PFAM |
|
Pfam:ATP_Ca_trans_C
|
1090 |
1153 |
1.8e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112264
AA Change: V627F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107883
Gene: ENSMUSG00000026463
AA Change: V627F
| Domain | Start | End | E-Value | Type |
|---|
|
Cation_ATPase_N
|
45 |
121 |
1.81e-8 |
SMART |
|
low complexity region
|
140 |
152 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
154 |
456 |
1.3e-58 |
PFAM |
|
Pfam:Hydrolase
|
460 |
798 |
1.2e-26 |
PFAM |
|
Pfam:HAD
|
463 |
795 |
3.5e-15 |
PFAM |
|
Pfam:Hydrolase_like2
|
510 |
605 |
4.6e-17 |
PFAM |
|
Pfam:Hydrolase_3
|
756 |
831 |
9.1e-7 |
PFAM |
|
Pfam:Cation_ATPase_C
|
868 |
1050 |
1.1e-43 |
PFAM |
|
Pfam:ATP_Ca_trans_C
|
1090 |
1104 |
7.4e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000125659
AA Change: V627F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116941
Gene: ENSMUSG00000026463
AA Change: V627F
| Domain | Start | End | E-Value | Type |
|---|
|
Cation_ATPase_N
|
45 |
121 |
1.81e-8 |
SMART |
|
low complexity region
|
140 |
152 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
154 |
456 |
1.7e-58 |
PFAM |
|
Pfam:Hydrolase
|
460 |
798 |
3e-26 |
PFAM |
|
Pfam:HAD
|
463 |
795 |
7.4e-15 |
PFAM |
|
Pfam:Hydrolase_like2
|
510 |
605 |
3.6e-17 |
PFAM |
|
Pfam:Hydrolase_3
|
756 |
831 |
2.7e-6 |
PFAM |
|
Pfam:Cation_ATPase_C
|
868 |
1050 |
1.1e-43 |
PFAM |
|
Pfam:ATP_Ca_trans_C
|
1090 |
1153 |
1.8e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143567
AA Change: V627F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119242
Gene: ENSMUSG00000026463
AA Change: V627F
| Domain | Start | End | E-Value | Type |
|---|
|
Cation_ATPase_N
|
45 |
121 |
1.81e-8 |
SMART |
|
low complexity region
|
140 |
152 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
153 |
301 |
6.8e-29 |
PFAM |
|
Pfam:E1-E2_ATPase
|
338 |
455 |
1.9e-13 |
PFAM |
|
Pfam:HAD
|
463 |
795 |
1e-21 |
PFAM |
|
Pfam:Cation_ATPase
|
509 |
605 |
5.8e-17 |
PFAM |
|
Pfam:Hydrolase
|
577 |
798 |
5e-15 |
PFAM |
|
Pfam:Hydrolase_3
|
756 |
831 |
6.6e-7 |
PFAM |
|
Pfam:Cation_ATPase_C
|
868 |
1050 |
4.5e-45 |
PFAM |
|
Pfam:ATP_Ca_trans_C
|
1090 |
1141 |
3.4e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165602
AA Change: V627F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133187
Gene: ENSMUSG00000026463
AA Change: V627F
| Domain | Start | End | E-Value | Type |
|---|
|
Cation_ATPase_N
|
45 |
121 |
1.81e-8 |
SMART |
|
low complexity region
|
140 |
152 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
154 |
456 |
1.5e-58 |
PFAM |
|
Pfam:Hydrolase
|
460 |
798 |
1.4e-26 |
PFAM |
|
Pfam:HAD
|
463 |
795 |
4.1e-15 |
PFAM |
|
Pfam:Hydrolase_like2
|
510 |
605 |
5.1e-17 |
PFAM |
|
Pfam:Hydrolase_3
|
756 |
831 |
1e-6 |
PFAM |
|
Pfam:Cation_ATPase_C
|
868 |
1050 |
1.3e-43 |
PFAM |
|
Pfam:ATP_Ca_trans_C
|
1090 |
1151 |
4.8e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183597
|
| Meta Mutation Damage Score |
0.5458 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (60/60) |
| 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 4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display male infertility with impaired sperm motility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579C12Rik |
T |
C |
9: 89,051,041 (GRCm39) |
|
noncoding transcript |
Het |
| Ankfy1 |
A |
T |
11: 72,637,757 (GRCm39) |
H483L |
probably benign |
Het |
| Ankrd46 |
C |
T |
15: 36,479,447 (GRCm39) |
G215R |
probably damaging |
Het |
| Apobec1 |
T |
C |
6: 122,558,327 (GRCm39) |
I143V |
probably benign |
Het |
| Ccdc80 |
T |
A |
16: 44,947,588 (GRCm39) |
Y855* |
probably null |
Het |
| Cd209b |
T |
C |
8: 3,975,396 (GRCm39) |
E88G |
probably damaging |
Het |
| Ceacam14 |
T |
G |
7: 17,548,110 (GRCm39) |
W67G |
probably damaging |
Het |
| Cope |
T |
C |
8: 70,757,306 (GRCm39) |
V50A |
probably benign |
Het |
| Dcaf13 |
C |
A |
15: 38,987,759 (GRCm39) |
D168E |
probably benign |
Het |
| Dhcr7 |
T |
G |
7: 143,391,576 (GRCm39) |
M55R |
probably damaging |
Het |
| Enpp7 |
A |
T |
11: 118,879,634 (GRCm39) |
Y96F |
probably benign |
Het |
| Esco1 |
T |
C |
18: 10,584,327 (GRCm39) |
D60G |
probably benign |
Het |
| Fgfr3 |
G |
A |
5: 33,880,642 (GRCm39) |
|
probably benign |
Het |
| Frzb |
T |
C |
2: 80,248,259 (GRCm39) |
D280G |
probably damaging |
Het |
| Gcat |
A |
G |
15: 78,920,610 (GRCm39) |
I317V |
probably benign |
Het |
| Gm13030 |
A |
T |
4: 138,600,820 (GRCm39) |
|
probably benign |
Het |
| Gmds |
A |
G |
13: 32,312,024 (GRCm39) |
L135P |
probably damaging |
Het |
| Htra2 |
G |
A |
6: 83,030,995 (GRCm39) |
P138L |
probably damaging |
Het |
| Il5 |
A |
G |
11: 53,614,626 (GRCm39) |
N89S |
probably damaging |
Het |
| Ints3 |
G |
A |
3: 90,315,834 (GRCm39) |
T310M |
possibly damaging |
Het |
| Itih2 |
T |
C |
2: 10,102,804 (GRCm39) |
I777V |
probably null |
Het |
| Kctd9 |
T |
C |
14: 67,977,836 (GRCm39) |
L382S |
probably damaging |
Het |
| Loricrin |
A |
G |
3: 91,988,789 (GRCm39) |
S166P |
unknown |
Het |
| Mga |
T |
A |
2: 119,733,810 (GRCm39) |
N219K |
probably damaging |
Het |
| Mtmr4 |
A |
T |
11: 87,501,868 (GRCm39) |
R641* |
probably null |
Het |
| Muc6 |
C |
T |
7: 141,235,078 (GRCm39) |
A611T |
possibly damaging |
Het |
| Obox3-ps8 |
A |
T |
17: 36,763,903 (GRCm39) |
|
noncoding transcript |
Het |
| Or5p54 |
A |
T |
7: 107,554,096 (GRCm39) |
M83L |
probably benign |
Het |
| Otud4 |
C |
T |
8: 80,377,671 (GRCm39) |
L111F |
possibly damaging |
Het |
| Pcdhga12 |
T |
A |
18: 37,899,314 (GRCm39) |
S49T |
possibly damaging |
Het |
| Pcdhgc3 |
A |
G |
18: 37,941,549 (GRCm39) |
D650G |
probably damaging |
Het |
| Pcmt1 |
A |
G |
10: 7,516,509 (GRCm39) |
V167A |
probably damaging |
Het |
| Pcnt |
A |
T |
10: 76,225,381 (GRCm39) |
|
probably null |
Het |
| Pcx |
G |
T |
19: 4,652,504 (GRCm39) |
V164F |
probably damaging |
Het |
| Plekhg4 |
T |
C |
8: 106,102,745 (GRCm39) |
|
probably null |
Het |
| Pmch |
A |
G |
10: 87,927,707 (GRCm39) |
E136G |
probably damaging |
Het |
| Prkar1a |
A |
G |
11: 109,550,886 (GRCm39) |
D80G |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,560,647 (GRCm39) |
|
probably null |
Het |
| Slc10a7 |
T |
C |
8: 79,413,253 (GRCm39) |
S171P |
possibly damaging |
Het |
| Sox6 |
A |
T |
7: 115,301,008 (GRCm39) |
M153K |
possibly damaging |
Het |
| Srgap2 |
T |
C |
1: 131,217,475 (GRCm39) |
I946V |
probably benign |
Het |
| Strbp |
T |
C |
2: 37,535,495 (GRCm39) |
E71G |
probably benign |
Het |
| Synpo2l |
C |
A |
14: 20,712,360 (GRCm39) |
A87S |
probably damaging |
Het |
| Tnrc18 |
T |
C |
5: 142,757,446 (GRCm39) |
D1025G |
unknown |
Het |
| Tnxb |
A |
G |
17: 34,928,599 (GRCm39) |
H2671R |
possibly damaging |
Het |
| Tor1b |
GGACG |
GG |
2: 30,846,957 (GRCm39) |
|
probably benign |
Het |
| Umodl1 |
A |
T |
17: 31,205,439 (GRCm39) |
D649V |
possibly damaging |
Het |
| Usp13 |
G |
T |
3: 32,959,585 (GRCm39) |
A559S |
probably damaging |
Het |
| Vps45 |
G |
A |
3: 95,926,969 (GRCm39) |
P526L |
probably benign |
Het |
| Zfp687 |
A |
G |
3: 94,916,457 (GRCm39) |
V855A |
probably damaging |
Het |
| Zfp771 |
T |
A |
7: 126,853,448 (GRCm39) |
C205S |
probably damaging |
Het |
|
| Other mutations in Atp2b4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02387:Atp2b4
|
APN |
1 |
133,659,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02887:Atp2b4
|
APN |
1 |
133,656,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02964:Atp2b4
|
APN |
1 |
133,658,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03116:Atp2b4
|
APN |
1 |
133,656,506 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03227:Atp2b4
|
APN |
1 |
133,657,445 (GRCm39) |
splice site |
probably benign |
|
|
G1patch:Atp2b4
|
UTSW |
1 |
133,634,725 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0018:Atp2b4
|
UTSW |
1 |
133,645,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0018:Atp2b4
|
UTSW |
1 |
133,645,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0279:Atp2b4
|
UTSW |
1 |
133,657,440 (GRCm39) |
splice site |
probably benign |
|
|
R0455:Atp2b4
|
UTSW |
1 |
133,656,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0511:Atp2b4
|
UTSW |
1 |
133,659,956 (GRCm39) |
splice site |
probably benign |
|
|
R0712:Atp2b4
|
UTSW |
1 |
133,658,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Atp2b4
|
UTSW |
1 |
133,634,677 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1469:Atp2b4
|
UTSW |
1 |
133,634,677 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1529:Atp2b4
|
UTSW |
1 |
133,645,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1771:Atp2b4
|
UTSW |
1 |
133,660,131 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1954:Atp2b4
|
UTSW |
1 |
133,667,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2054:Atp2b4
|
UTSW |
1 |
133,642,907 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2056:Atp2b4
|
UTSW |
1 |
133,654,275 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2059:Atp2b4
|
UTSW |
1 |
133,654,275 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2091:Atp2b4
|
UTSW |
1 |
133,642,968 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2263:Atp2b4
|
UTSW |
1 |
133,654,271 (GRCm39) |
missense |
probably benign |
0.35 |
|
R3907:Atp2b4
|
UTSW |
1 |
133,666,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4362:Atp2b4
|
UTSW |
1 |
133,667,669 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4756:Atp2b4
|
UTSW |
1 |
133,667,134 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4756:Atp2b4
|
UTSW |
1 |
133,639,529 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4856:Atp2b4
|
UTSW |
1 |
133,634,518 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4886:Atp2b4
|
UTSW |
1 |
133,634,518 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5177:Atp2b4
|
UTSW |
1 |
133,656,506 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5594:Atp2b4
|
UTSW |
1 |
133,658,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5712:Atp2b4
|
UTSW |
1 |
133,658,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6034:Atp2b4
|
UTSW |
1 |
133,659,645 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6034:Atp2b4
|
UTSW |
1 |
133,659,645 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6078:Atp2b4
|
UTSW |
1 |
133,629,440 (GRCm39) |
small insertion |
probably benign |
|
|
R6079:Atp2b4
|
UTSW |
1 |
133,629,440 (GRCm39) |
small insertion |
probably benign |
|
|
R6244:Atp2b4
|
UTSW |
1 |
133,654,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6376:Atp2b4
|
UTSW |
1 |
133,642,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6483:Atp2b4
|
UTSW |
1 |
133,657,618 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6526:Atp2b4
|
UTSW |
1 |
133,639,467 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6725:Atp2b4
|
UTSW |
1 |
133,634,725 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6801:Atp2b4
|
UTSW |
1 |
133,655,524 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7548:Atp2b4
|
UTSW |
1 |
133,629,379 (GRCm39) |
makesense |
probably null |
|
|
R7946:Atp2b4
|
UTSW |
1 |
133,658,320 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8228:Atp2b4
|
UTSW |
1 |
133,629,459 (GRCm39) |
small insertion |
probably benign |
|
|
R8401:Atp2b4
|
UTSW |
1 |
133,659,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8720:Atp2b4
|
UTSW |
1 |
133,629,465 (GRCm39) |
small insertion |
probably benign |
|
|
R8787:Atp2b4
|
UTSW |
1 |
133,629,485 (GRCm39) |
small insertion |
probably benign |
|
|
R8882:Atp2b4
|
UTSW |
1 |
133,654,193 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8966:Atp2b4
|
UTSW |
1 |
133,666,317 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9033:Atp2b4
|
UTSW |
1 |
133,634,725 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9121:Atp2b4
|
UTSW |
1 |
133,629,463 (GRCm39) |
small insertion |
probably benign |
|
|
R9160:Atp2b4
|
UTSW |
1 |
133,660,143 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9366:Atp2b4
|
UTSW |
1 |
133,642,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9592:Atp2b4
|
UTSW |
1 |
133,659,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9657:Atp2b4
|
UTSW |
1 |
133,656,478 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACAAGCGCTCCTGCTTTC -3'
(R):5'- CTGAAGGATGAGTGACCCTG -3'
Sequencing Primer
(F):5'- GCTCCTGCTTTCTGGCC -3'
(R):5'- CAAGGTGGTGACCCATTTTGACC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation