Incidental Mutation 'R2093:Atp2c1'
| ID |
231921 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp2c1
|
| Ensembl Gene |
ENSMUSG00000032570 |
| Gene Name |
ATPase, Ca++-sequestering |
| Synonyms |
ATP2C1A, D930003G21Rik, SPCA, 1700121J11Rik, PMR1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.403)
|
| Stock # |
R2093 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
105288561-105398456 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 105295320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 669
(R669*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135802
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038118]
[ENSMUST00000085133]
[ENSMUST00000112558]
[ENSMUST00000163879]
[ENSMUST00000176770]
[ENSMUST00000177293]
[ENSMUST00000177074]
|
| AlphaFold |
Q80XR2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000038118
AA Change: R805*
|
| SMART Domains |
Protein: ENSMUSP00000039103
Gene: ENSMUSG00000032570
AA Change: R805*
| Domain | Start | End | E-Value | Type |
|---|
|
Cation_ATPase_N
|
25 |
99 |
1.85e-14 |
SMART |
|
Pfam:E1-E2_ATPase
|
105 |
339 |
2.3e-75 |
PFAM |
|
Pfam:Hydrolase
|
343 |
655 |
2.9e-31 |
PFAM |
|
Pfam:HAD
|
346 |
652 |
7.7e-15 |
PFAM |
|
Pfam:Hydrolase_like2
|
408 |
492 |
9.5e-20 |
PFAM |
|
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
|
Pfam:Cation_ATPase_C
|
725 |
897 |
4e-47 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000085133
AA Change: R839*
|
| SMART Domains |
Protein: ENSMUSP00000082220
Gene: ENSMUSG00000032570
AA Change: R839*
| Domain | Start | End | E-Value | Type |
|---|
|
Cation_ATPase_N
|
59 |
133 |
1.85e-14 |
SMART |
|
Pfam:E1-E2_ATPase
|
138 |
372 |
3.4e-62 |
PFAM |
|
Pfam:Hydrolase
|
377 |
689 |
2.6e-23 |
PFAM |
|
Pfam:HAD
|
380 |
686 |
7.8e-14 |
PFAM |
|
Pfam:Cation_ATPase
|
442 |
526 |
3.2e-19 |
PFAM |
|
low complexity region
|
740 |
755 |
N/A |
INTRINSIC |
|
Pfam:Cation_ATPase_C
|
759 |
931 |
3.8e-48 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000112557
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000112558
AA Change: R805*
|
| SMART Domains |
Protein: ENSMUSP00000108177
Gene: ENSMUSG00000032570
AA Change: R805*
| Domain | Start | End | E-Value | Type |
|---|
|
Cation_ATPase_N
|
25 |
99 |
1.85e-14 |
SMART |
|
Pfam:E1-E2_ATPase
|
105 |
339 |
2.3e-75 |
PFAM |
|
Pfam:Hydrolase
|
343 |
655 |
2.9e-31 |
PFAM |
|
Pfam:HAD
|
346 |
652 |
7.7e-15 |
PFAM |
|
Pfam:Hydrolase_like2
|
408 |
492 |
9.5e-20 |
PFAM |
|
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
|
Pfam:Cation_ATPase_C
|
725 |
897 |
4e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163879
|
| SMART Domains |
Protein: ENSMUSP00000129617
Gene: ENSMUSG00000032570
| Domain | Start | End | E-Value | Type |
|---|
|
Cation_ATPase_N
|
9 |
83 |
1.85e-14 |
SMART |
|
Pfam:E1-E2_ATPase
|
89 |
323 |
5.2e-76 |
PFAM |
|
Pfam:Hydrolase
|
327 |
639 |
5.6e-32 |
PFAM |
|
Pfam:HAD
|
330 |
636 |
1.4e-15 |
PFAM |
|
Pfam:Hydrolase_like2
|
392 |
476 |
3.2e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175697
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176656
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176770
AA Change: R800*
|
| SMART Domains |
Protein: ENSMUSP00000134764
Gene: ENSMUSG00000032570
AA Change: R800*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:E1-E2_ATPase
|
100 |
334 |
8.9e-76 |
PFAM |
|
Pfam:Hydrolase
|
338 |
650 |
1.1e-31 |
PFAM |
|
Pfam:HAD
|
341 |
647 |
2.7e-15 |
PFAM |
|
Pfam:Hydrolase_like2
|
403 |
487 |
4.8e-20 |
PFAM |
|
low complexity region
|
701 |
716 |
N/A |
INTRINSIC |
|
Pfam:Cation_ATPase_C
|
720 |
892 |
1.6e-47 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000177293
AA Change: R669*
|
| SMART Domains |
Protein: ENSMUSP00000135802
Gene: ENSMUSG00000032570
AA Change: R669*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:E1-E2_ATPase
|
1 |
203 |
6.7e-64 |
PFAM |
|
Pfam:Hydrolase
|
207 |
519 |
7.4e-32 |
PFAM |
|
Pfam:HAD
|
210 |
516 |
1.9e-15 |
PFAM |
|
Pfam:Hydrolase_like2
|
272 |
356 |
3.8e-20 |
PFAM |
|
transmembrane domain
|
564 |
586 |
N/A |
INTRINSIC |
|
Pfam:Cation_ATPase_C
|
589 |
761 |
1.2e-47 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000177074
AA Change: R805*
|
| SMART Domains |
Protein: ENSMUSP00000135646
Gene: ENSMUSG00000032570
AA Change: R805*
| Domain | Start | End | E-Value | Type |
|---|
|
Cation_ATPase_N
|
25 |
99 |
1.85e-14 |
SMART |
|
Pfam:E1-E2_ATPase
|
105 |
339 |
8.2e-76 |
PFAM |
|
Pfam:Hydrolase
|
343 |
655 |
1e-31 |
PFAM |
|
Pfam:HAD
|
346 |
652 |
2.5e-15 |
PFAM |
|
Pfam:Hydrolase_like2
|
408 |
492 |
4.5e-20 |
PFAM |
|
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
|
Pfam:Cation_ATPase_C
|
725 |
886 |
7e-44 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| 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 cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele show embryonic growth retardation, failure of rostral neural tube closure, Golgi and endoplasmic reticulum stress, increased apoptosis, accumulation of intracellular lipid droplets and midgestational lethality. Agedheterozygotes develop squamous cell tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
A |
G |
1: 130,671,041 (GRCm39) |
D421G |
probably benign |
Het |
| Adamts1 |
T |
G |
16: 85,599,333 (GRCm39) |
Q89P |
probably benign |
Het |
| Arhgef10l |
T |
G |
4: 140,297,601 (GRCm39) |
N277T |
possibly damaging |
Het |
| Brip1 |
T |
C |
11: 86,029,971 (GRCm39) |
T558A |
possibly damaging |
Het |
| Cbr2 |
G |
A |
11: 120,621,255 (GRCm39) |
T148I |
probably benign |
Het |
| Ccdc110 |
C |
A |
8: 46,395,114 (GRCm39) |
T335K |
probably damaging |
Het |
| Cd44 |
T |
G |
2: 102,644,629 (GRCm39) |
D731A |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,501,986 (GRCm39) |
D44G |
probably damaging |
Het |
| Cnrip1 |
T |
C |
11: 17,002,237 (GRCm39) |
V23A |
probably damaging |
Het |
| Cntnap5c |
A |
T |
17: 58,505,995 (GRCm39) |
H673L |
probably benign |
Het |
| Col3a1 |
C |
T |
1: 45,372,150 (GRCm39) |
A493V |
probably damaging |
Het |
| Crem |
A |
T |
18: 3,299,256 (GRCm39) |
V19E |
probably damaging |
Het |
| Cyp2g1 |
A |
G |
7: 26,518,858 (GRCm39) |
D418G |
probably benign |
Het |
| Dmrta1 |
A |
T |
4: 89,579,742 (GRCm39) |
H234L |
probably benign |
Het |
| Drc3 |
C |
T |
11: 60,261,310 (GRCm39) |
R154W |
probably damaging |
Het |
| Drgx |
C |
T |
14: 32,369,112 (GRCm39) |
|
probably benign |
Het |
| Eef1d |
A |
G |
15: 75,774,550 (GRCm39) |
S370P |
probably benign |
Het |
| Fdx2 |
T |
C |
9: 20,984,720 (GRCm39) |
H28R |
probably benign |
Het |
| Fmo5 |
A |
G |
3: 97,553,194 (GRCm39) |
I381V |
probably benign |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| Fras1 |
T |
C |
5: 96,929,062 (GRCm39) |
L3822P |
probably damaging |
Het |
| Gm3604 |
G |
T |
13: 62,517,420 (GRCm39) |
H313N |
possibly damaging |
Het |
| Heatr4 |
T |
C |
12: 84,021,855 (GRCm39) |
E460G |
possibly damaging |
Het |
| Ino80 |
T |
A |
2: 119,257,151 (GRCm39) |
H834L |
possibly damaging |
Het |
| Insr |
A |
T |
8: 3,254,762 (GRCm39) |
C331S |
probably damaging |
Het |
| Itih4 |
C |
T |
14: 30,613,694 (GRCm39) |
L304F |
probably damaging |
Het |
| Klhdc3 |
C |
T |
17: 46,988,879 (GRCm39) |
V104I |
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,366,365 (GRCm39) |
D245N |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,566,178 (GRCm39) |
E2181G |
unknown |
Het |
| Map2 |
T |
C |
1: 66,438,599 (GRCm39) |
V41A |
probably damaging |
Het |
| Mical3 |
A |
T |
6: 121,017,347 (GRCm39) |
H156Q |
probably damaging |
Het |
| Mrgpra2b |
C |
T |
7: 47,113,908 (GRCm39) |
V249I |
probably benign |
Het |
| Myo5b |
T |
A |
18: 74,892,263 (GRCm39) |
L1669Q |
probably damaging |
Het |
| Nme8 |
G |
A |
13: 19,835,042 (GRCm39) |
S548F |
probably damaging |
Het |
| Npas1 |
A |
T |
7: 16,193,202 (GRCm39) |
N408K |
probably benign |
Het |
| Or1j11 |
A |
T |
2: 36,311,941 (GRCm39) |
Y177F |
probably benign |
Het |
| Or8k30 |
A |
C |
2: 86,339,587 (GRCm39) |
Q261H |
probably damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,626,216 (GRCm39) |
Y1141H |
probably damaging |
Het |
| Pmaip1 |
C |
A |
18: 66,594,052 (GRCm39) |
P64Q |
probably damaging |
Het |
| Ranbp3 |
T |
A |
17: 57,017,145 (GRCm39) |
M387K |
probably damaging |
Het |
| Rbm4 |
A |
G |
19: 4,837,792 (GRCm39) |
Y231H |
probably damaging |
Het |
| Rpgrip1l |
T |
C |
8: 91,996,760 (GRCm39) |
S105G |
possibly damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Rtn3 |
A |
T |
19: 7,434,215 (GRCm39) |
D573E |
probably damaging |
Het |
| Rxrg |
T |
C |
1: 167,454,893 (GRCm39) |
C159R |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,833,948 (GRCm39) |
Y78C |
probably damaging |
Het |
| Smu1 |
A |
G |
4: 40,738,438 (GRCm39) |
V432A |
probably benign |
Het |
| Spag1 |
T |
C |
15: 36,224,276 (GRCm39) |
L609P |
probably damaging |
Het |
| Spata21 |
T |
G |
4: 140,824,277 (GRCm39) |
V180G |
probably benign |
Het |
| Spata31e2 |
G |
T |
1: 26,721,222 (GRCm39) |
Y1319* |
probably null |
Het |
| Sptlc3 |
A |
T |
2: 139,467,794 (GRCm39) |
I451F |
possibly damaging |
Het |
| Srl |
A |
G |
16: 4,340,896 (GRCm39) |
C8R |
unknown |
Het |
| Tmprss13 |
A |
G |
9: 45,256,340 (GRCm39) |
R485G |
probably damaging |
Het |
| Trpv4 |
C |
T |
5: 114,773,565 (GRCm39) |
A266T |
probably damaging |
Het |
| Vmn1r198 |
A |
G |
13: 22,538,855 (GRCm39) |
T25A |
probably benign |
Het |
| Vmn2r77 |
T |
C |
7: 86,450,702 (GRCm39) |
V196A |
probably benign |
Het |
| Vmn2r82 |
C |
T |
10: 79,231,813 (GRCm39) |
T604I |
probably benign |
Het |
| Zfp268 |
C |
A |
4: 145,349,139 (GRCm39) |
T192N |
probably benign |
Het |
| Zfp354a |
C |
T |
11: 50,960,551 (GRCm39) |
T254I |
probably damaging |
Het |
|
| Other mutations in Atp2c1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00984:Atp2c1
|
APN |
9 |
105,295,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01682:Atp2c1
|
APN |
9 |
105,330,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01874:Atp2c1
|
APN |
9 |
105,326,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02299:Atp2c1
|
APN |
9 |
105,338,286 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03186:Atp2c1
|
APN |
9 |
105,290,329 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03212:Atp2c1
|
APN |
9 |
105,322,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB002:Atp2c1
|
UTSW |
9 |
105,319,969 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
BB012:Atp2c1
|
UTSW |
9 |
105,319,969 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02799:Atp2c1
|
UTSW |
9 |
105,290,242 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03047:Atp2c1
|
UTSW |
9 |
105,398,206 (GRCm39) |
intron |
probably benign |
|
|
R0885:Atp2c1
|
UTSW |
9 |
105,298,772 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1072:Atp2c1
|
UTSW |
9 |
105,336,943 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1469:Atp2c1
|
UTSW |
9 |
105,312,351 (GRCm39) |
nonsense |
probably null |
|
|
R1469:Atp2c1
|
UTSW |
9 |
105,312,351 (GRCm39) |
nonsense |
probably null |
|
|
R1611:Atp2c1
|
UTSW |
9 |
105,320,051 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1638:Atp2c1
|
UTSW |
9 |
105,309,897 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1667:Atp2c1
|
UTSW |
9 |
105,309,996 (GRCm39) |
missense |
probably null |
0.94 |
|
R1722:Atp2c1
|
UTSW |
9 |
105,316,599 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1734:Atp2c1
|
UTSW |
9 |
105,291,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1782:Atp2c1
|
UTSW |
9 |
105,308,786 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1964:Atp2c1
|
UTSW |
9 |
105,323,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2008:Atp2c1
|
UTSW |
9 |
105,309,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3720:Atp2c1
|
UTSW |
9 |
105,300,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4118:Atp2c1
|
UTSW |
9 |
105,343,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4273:Atp2c1
|
UTSW |
9 |
105,312,339 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4763:Atp2c1
|
UTSW |
9 |
105,295,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4962:Atp2c1
|
UTSW |
9 |
105,320,149 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5121:Atp2c1
|
UTSW |
9 |
105,326,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5458:Atp2c1
|
UTSW |
9 |
105,291,924 (GRCm39) |
nonsense |
probably null |
|
|
R5551:Atp2c1
|
UTSW |
9 |
105,336,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6198:Atp2c1
|
UTSW |
9 |
105,398,271 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6414:Atp2c1
|
UTSW |
9 |
105,343,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6432:Atp2c1
|
UTSW |
9 |
105,322,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6675:Atp2c1
|
UTSW |
9 |
105,330,732 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6719:Atp2c1
|
UTSW |
9 |
105,301,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6777:Atp2c1
|
UTSW |
9 |
105,295,799 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6847:Atp2c1
|
UTSW |
9 |
105,295,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6870:Atp2c1
|
UTSW |
9 |
105,347,261 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7097:Atp2c1
|
UTSW |
9 |
105,341,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7120:Atp2c1
|
UTSW |
9 |
105,297,385 (GRCm39) |
nonsense |
probably null |
|
|
R7216:Atp2c1
|
UTSW |
9 |
105,344,930 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7284:Atp2c1
|
UTSW |
9 |
105,398,008 (GRCm39) |
splice site |
probably null |
|
|
R7365:Atp2c1
|
UTSW |
9 |
105,300,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7448:Atp2c1
|
UTSW |
9 |
105,329,982 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7818:Atp2c1
|
UTSW |
9 |
105,291,956 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7921:Atp2c1
|
UTSW |
9 |
105,291,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7925:Atp2c1
|
UTSW |
9 |
105,319,969 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8088:Atp2c1
|
UTSW |
9 |
105,329,768 (GRCm39) |
splice site |
probably null |
|
|
R8257:Atp2c1
|
UTSW |
9 |
105,308,756 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8260:Atp2c1
|
UTSW |
9 |
105,295,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8265:Atp2c1
|
UTSW |
9 |
105,347,315 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8307:Atp2c1
|
UTSW |
9 |
105,320,030 (GRCm39) |
missense |
probably benign |
|
|
R9052:Atp2c1
|
UTSW |
9 |
105,330,032 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9066:Atp2c1
|
UTSW |
9 |
105,330,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9177:Atp2c1
|
UTSW |
9 |
105,336,858 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9257:Atp2c1
|
UTSW |
9 |
105,291,851 (GRCm39) |
nonsense |
probably null |
|
|
R9566:Atp2c1
|
UTSW |
9 |
105,343,828 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9779:Atp2c1
|
UTSW |
9 |
105,291,919 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0053:Atp2c1
|
UTSW |
9 |
105,295,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGATTGGACACCATCTGAAATC -3'
(R):5'- TGCAGACTGTTTGTTCACTAGG -3'
Sequencing Primer
(F):5'- GATTTCTGAGTTCAAGGCCAGCC -3'
(R):5'- CACTAGGTGGTCTGTAGAAAATTCAG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation