Incidental Mutation 'IGL00966:Atp2c2'
ID |
28068 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Atp2c2
|
Ensembl Gene |
ENSMUSG00000034112 |
Gene Name |
ATPase, Ca++ transporting, type 2C, member 2 |
Synonyms |
1810010G06Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00966
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
120426748-120484456 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 120472329 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 461
(V461A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092794
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095171]
|
AlphaFold |
A7L9Z8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095171
AA Change: V461A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000092794 Gene: ENSMUSG00000034112 AA Change: V461A
Domain | Start | End | E-Value | Type |
Cation_ATPase_N
|
54 |
128 |
1.27e-12 |
SMART |
Pfam:E1-E2_ATPase
|
133 |
366 |
1.7e-62 |
PFAM |
Pfam:Hydrolase
|
371 |
684 |
5.3e-18 |
PFAM |
Pfam:HAD
|
374 |
681 |
7.4e-11 |
PFAM |
Pfam:Cation_ATPase
|
437 |
521 |
1.1e-17 |
PFAM |
Pfam:Cation_ATPase_C
|
754 |
927 |
1.1e-47 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad11 |
A |
G |
9: 104,003,855 (GRCm39) |
E649G |
probably damaging |
Het |
Adgre1 |
C |
A |
17: 57,726,335 (GRCm39) |
T402K |
probably benign |
Het |
Agap3 |
A |
G |
5: 24,706,000 (GRCm39) |
|
probably benign |
Het |
Amy1 |
T |
C |
3: 113,349,689 (GRCm39) |
I494V |
probably benign |
Het |
Arhgef40 |
G |
A |
14: 52,229,155 (GRCm39) |
|
probably null |
Het |
Bub1 |
A |
G |
2: 127,652,583 (GRCm39) |
S595P |
probably damaging |
Het |
Cdcp3 |
T |
A |
7: 130,844,836 (GRCm39) |
Y692* |
probably null |
Het |
Cmya5 |
C |
T |
13: 93,234,414 (GRCm39) |
V225I |
probably benign |
Het |
Cnbd1 |
T |
C |
4: 18,906,988 (GRCm39) |
|
probably benign |
Het |
Cux1 |
A |
T |
5: 136,340,345 (GRCm39) |
|
probably benign |
Het |
Dsg3 |
T |
A |
18: 20,656,664 (GRCm39) |
I178N |
probably benign |
Het |
Dus2 |
T |
A |
8: 106,752,533 (GRCm39) |
|
probably null |
Het |
Enpp1 |
G |
A |
10: 24,529,929 (GRCm39) |
H570Y |
probably damaging |
Het |
Ephb3 |
A |
C |
16: 21,036,044 (GRCm39) |
T57P |
probably benign |
Het |
Fat3 |
C |
A |
9: 15,910,390 (GRCm39) |
V1871F |
possibly damaging |
Het |
Fbll1 |
T |
C |
11: 35,688,874 (GRCm39) |
T130A |
probably benign |
Het |
Fbxl20 |
C |
T |
11: 98,001,800 (GRCm39) |
S99N |
probably damaging |
Het |
Folr2 |
T |
C |
7: 101,489,593 (GRCm39) |
E182G |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,703,080 (GRCm39) |
D281G |
probably benign |
Het |
Gm17175 |
G |
T |
14: 51,810,526 (GRCm39) |
Q34K |
possibly damaging |
Het |
Gm5592 |
T |
A |
7: 40,938,519 (GRCm39) |
D600E |
probably damaging |
Het |
Gtf2e1 |
T |
C |
16: 37,336,092 (GRCm39) |
E294G |
probably benign |
Het |
Gtf3c2 |
A |
G |
5: 31,327,517 (GRCm39) |
|
probably benign |
Het |
Heg1 |
T |
C |
16: 33,530,977 (GRCm39) |
L151P |
probably damaging |
Het |
Hmcn2 |
T |
G |
2: 31,319,006 (GRCm39) |
V3902G |
probably damaging |
Het |
Ift140 |
A |
G |
17: 25,237,776 (GRCm39) |
Y4C |
probably damaging |
Het |
Ighv1-19 |
A |
C |
12: 114,672,569 (GRCm39) |
V17G |
possibly damaging |
Het |
Iqca1 |
T |
A |
1: 89,973,379 (GRCm39) |
I770F |
probably benign |
Het |
Jak3 |
T |
A |
8: 72,131,656 (GRCm39) |
C115S |
probably benign |
Het |
Kif18b |
A |
T |
11: 102,805,501 (GRCm39) |
M252K |
probably damaging |
Het |
Klhdc7a |
A |
T |
4: 139,694,236 (GRCm39) |
V237D |
probably benign |
Het |
Klhl11 |
C |
T |
11: 100,354,031 (GRCm39) |
V597I |
possibly damaging |
Het |
Krt72 |
T |
A |
15: 101,689,396 (GRCm39) |
Y312F |
probably damaging |
Het |
Lonp2 |
T |
A |
8: 87,360,600 (GRCm39) |
I191N |
probably damaging |
Het |
Npc2 |
A |
T |
12: 84,819,619 (GRCm39) |
I8N |
possibly damaging |
Het |
Nr4a1 |
T |
C |
15: 101,170,669 (GRCm39) |
L413P |
probably damaging |
Het |
Nup133 |
T |
C |
8: 124,638,645 (GRCm39) |
N895S |
probably damaging |
Het |
Or7e175 |
T |
C |
9: 20,048,531 (GRCm39) |
F40L |
probably benign |
Het |
Ppef1 |
A |
G |
X: 159,468,290 (GRCm39) |
I94T |
probably benign |
Het |
Prrt4 |
G |
A |
6: 29,176,455 (GRCm39) |
T290I |
probably benign |
Het |
Ptpru |
A |
T |
4: 131,499,927 (GRCm39) |
V1239E |
probably damaging |
Het |
Rab8b |
T |
G |
9: 66,760,274 (GRCm39) |
M117L |
probably benign |
Het |
S1pr5 |
T |
A |
9: 21,155,512 (GRCm39) |
I305F |
possibly damaging |
Het |
Sdr39u1 |
A |
G |
14: 56,135,463 (GRCm39) |
V160A |
probably damaging |
Het |
Slc6a21 |
C |
T |
7: 44,937,668 (GRCm39) |
T653M |
probably benign |
Het |
Stk39 |
T |
A |
2: 68,042,302 (GRCm39) |
E544D |
probably benign |
Het |
Tgfbr3 |
T |
C |
5: 107,290,367 (GRCm39) |
T313A |
probably benign |
Het |
Tle6 |
A |
T |
10: 81,430,292 (GRCm39) |
L287M |
probably damaging |
Het |
Tmc2 |
A |
G |
2: 130,105,932 (GRCm39) |
H821R |
probably benign |
Het |
Tmem230 |
G |
T |
2: 132,087,897 (GRCm39) |
D26E |
probably benign |
Het |
Tnfaip3 |
A |
G |
10: 18,880,885 (GRCm39) |
F394S |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,641,721 (GRCm39) |
L13458F |
probably damaging |
Het |
Vwa5a |
A |
T |
9: 38,634,675 (GRCm39) |
N161I |
probably benign |
Het |
Wdr87-ps |
C |
A |
7: 29,236,888 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Atp2c2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01624:Atp2c2
|
APN |
8 |
120,484,189 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02133:Atp2c2
|
APN |
8 |
120,481,074 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02221:Atp2c2
|
APN |
8 |
120,471,073 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02606:Atp2c2
|
APN |
8 |
120,457,013 (GRCm39) |
missense |
probably benign |
|
IGL02657:Atp2c2
|
APN |
8 |
120,479,771 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02839:Atp2c2
|
APN |
8 |
120,475,859 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL03122:Atp2c2
|
APN |
8 |
120,469,414 (GRCm39) |
missense |
possibly damaging |
0.77 |
R0031:Atp2c2
|
UTSW |
8 |
120,475,801 (GRCm39) |
missense |
probably benign |
0.15 |
R0372:Atp2c2
|
UTSW |
8 |
120,484,180 (GRCm39) |
missense |
probably benign |
|
R0502:Atp2c2
|
UTSW |
8 |
120,461,316 (GRCm39) |
missense |
probably null |
0.99 |
R0503:Atp2c2
|
UTSW |
8 |
120,461,316 (GRCm39) |
missense |
probably null |
0.99 |
R0584:Atp2c2
|
UTSW |
8 |
120,465,157 (GRCm39) |
missense |
probably benign |
0.01 |
R1225:Atp2c2
|
UTSW |
8 |
120,461,984 (GRCm39) |
missense |
probably damaging |
1.00 |
R1580:Atp2c2
|
UTSW |
8 |
120,479,726 (GRCm39) |
missense |
probably benign |
0.00 |
R1620:Atp2c2
|
UTSW |
8 |
120,475,865 (GRCm39) |
missense |
probably benign |
|
R1638:Atp2c2
|
UTSW |
8 |
120,482,742 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1745:Atp2c2
|
UTSW |
8 |
120,451,833 (GRCm39) |
missense |
probably benign |
0.02 |
R1746:Atp2c2
|
UTSW |
8 |
120,461,182 (GRCm39) |
unclassified |
probably benign |
|
R1907:Atp2c2
|
UTSW |
8 |
120,476,615 (GRCm39) |
splice site |
probably benign |
|
R2104:Atp2c2
|
UTSW |
8 |
120,476,584 (GRCm39) |
missense |
probably benign |
|
R2151:Atp2c2
|
UTSW |
8 |
120,482,841 (GRCm39) |
missense |
probably benign |
|
R2152:Atp2c2
|
UTSW |
8 |
120,482,841 (GRCm39) |
missense |
probably benign |
|
R2154:Atp2c2
|
UTSW |
8 |
120,482,841 (GRCm39) |
missense |
probably benign |
|
R2207:Atp2c2
|
UTSW |
8 |
120,475,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R3874:Atp2c2
|
UTSW |
8 |
120,462,035 (GRCm39) |
missense |
possibly damaging |
0.74 |
R3912:Atp2c2
|
UTSW |
8 |
120,448,015 (GRCm39) |
missense |
probably damaging |
1.00 |
R4093:Atp2c2
|
UTSW |
8 |
120,476,610 (GRCm39) |
critical splice donor site |
probably null |
|
R4782:Atp2c2
|
UTSW |
8 |
120,475,891 (GRCm39) |
missense |
probably damaging |
0.97 |
R4801:Atp2c2
|
UTSW |
8 |
120,474,426 (GRCm39) |
missense |
probably damaging |
1.00 |
R4973:Atp2c2
|
UTSW |
8 |
120,481,002 (GRCm39) |
missense |
probably benign |
0.00 |
R5485:Atp2c2
|
UTSW |
8 |
120,479,801 (GRCm39) |
critical splice donor site |
probably null |
|
R5978:Atp2c2
|
UTSW |
8 |
120,476,614 (GRCm39) |
splice site |
probably null |
|
R6377:Atp2c2
|
UTSW |
8 |
120,453,093 (GRCm39) |
missense |
probably benign |
0.10 |
R6613:Atp2c2
|
UTSW |
8 |
120,482,760 (GRCm39) |
missense |
probably damaging |
0.99 |
R6765:Atp2c2
|
UTSW |
8 |
120,479,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R6836:Atp2c2
|
UTSW |
8 |
120,461,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R6963:Atp2c2
|
UTSW |
8 |
120,457,006 (GRCm39) |
nonsense |
probably null |
|
R7220:Atp2c2
|
UTSW |
8 |
120,472,300 (GRCm39) |
missense |
probably benign |
0.00 |
R7238:Atp2c2
|
UTSW |
8 |
120,469,160 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7373:Atp2c2
|
UTSW |
8 |
120,456,991 (GRCm39) |
missense |
probably benign |
0.02 |
R7438:Atp2c2
|
UTSW |
8 |
120,474,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R7573:Atp2c2
|
UTSW |
8 |
120,478,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R7677:Atp2c2
|
UTSW |
8 |
120,474,915 (GRCm39) |
missense |
probably benign |
0.00 |
R7737:Atp2c2
|
UTSW |
8 |
120,469,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R7912:Atp2c2
|
UTSW |
8 |
120,456,917 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8821:Atp2c2
|
UTSW |
8 |
120,476,033 (GRCm39) |
splice site |
probably null |
|
R8831:Atp2c2
|
UTSW |
8 |
120,476,033 (GRCm39) |
splice site |
probably null |
|
R9200:Atp2c2
|
UTSW |
8 |
120,474,999 (GRCm39) |
nonsense |
probably null |
|
R9211:Atp2c2
|
UTSW |
8 |
120,446,032 (GRCm39) |
missense |
probably benign |
|
R9246:Atp2c2
|
UTSW |
8 |
120,456,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R9285:Atp2c2
|
UTSW |
8 |
120,465,141 (GRCm39) |
missense |
probably benign |
0.00 |
RF004:Atp2c2
|
UTSW |
8 |
120,479,561 (GRCm39) |
missense |
probably damaging |
1.00 |
RF012:Atp2c2
|
UTSW |
8 |
120,472,253 (GRCm39) |
missense |
possibly damaging |
0.91 |
Z1177:Atp2c2
|
UTSW |
8 |
120,461,124 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2013-04-17 |