Incidental Mutation 'IGL02657:Atp2c2'
| ID |
302384 |
| 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 # |
IGL02657
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
120426748-120484456 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 120479771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 767
(I767F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095171]
|
| AlphaFold |
A7L9Z8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095171
AA Change: I767F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092794
Gene: ENSMUSG00000034112
AA Change: I767F
| 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 |
|---|
| Afmid |
G |
A |
11: 117,725,648 (GRCm39) |
V120M |
possibly damaging |
Het |
| Aldh1l1 |
T |
C |
6: 90,567,776 (GRCm39) |
L680P |
probably damaging |
Het |
| Alox12 |
A |
T |
11: 70,138,104 (GRCm39) |
D410E |
probably benign |
Het |
| Amt |
T |
A |
9: 108,178,579 (GRCm39) |
V365E |
probably damaging |
Het |
| Ano9 |
A |
G |
7: 140,687,353 (GRCm39) |
S321P |
probably damaging |
Het |
| Bag1 |
A |
T |
4: 40,936,643 (GRCm39) |
Y338N |
probably benign |
Het |
| Bcr |
T |
A |
10: 74,990,796 (GRCm39) |
D767E |
probably benign |
Het |
| Chfr |
A |
T |
5: 110,302,705 (GRCm39) |
Q350L |
probably damaging |
Het |
| Cops3 |
A |
T |
11: 59,721,043 (GRCm39) |
L124H |
probably damaging |
Het |
| Ddx60 |
T |
C |
8: 62,437,149 (GRCm39) |
Y988H |
probably benign |
Het |
| Dnajc2 |
A |
T |
5: 21,975,479 (GRCm39) |
|
probably benign |
Het |
| Dym |
C |
T |
18: 75,215,527 (GRCm39) |
Q238* |
probably null |
Het |
| Fbn1 |
A |
T |
2: 125,193,945 (GRCm39) |
C1341S |
possibly damaging |
Het |
| Fryl |
G |
T |
5: 73,212,203 (GRCm39) |
N2308K |
probably benign |
Het |
| Gbp2b |
G |
T |
3: 142,309,873 (GRCm39) |
R221L |
probably damaging |
Het |
| Gpat2 |
A |
G |
2: 127,269,251 (GRCm39) |
N8S |
probably benign |
Het |
| Gvin2 |
T |
C |
7: 105,545,972 (GRCm39) |
K2360R |
probably damaging |
Het |
| Hycc2 |
A |
T |
1: 58,574,561 (GRCm39) |
W327R |
probably damaging |
Het |
| Ift52 |
A |
G |
2: 162,887,135 (GRCm39) |
D379G |
probably damaging |
Het |
| Inhbe |
C |
A |
10: 127,186,645 (GRCm39) |
L178F |
probably damaging |
Het |
| Ipo5 |
T |
C |
14: 121,181,212 (GRCm39) |
Y913H |
possibly damaging |
Het |
| Kif21b |
T |
A |
1: 136,099,968 (GRCm39) |
D1507E |
possibly damaging |
Het |
| Lnx2 |
A |
G |
5: 146,964,984 (GRCm39) |
V413A |
probably damaging |
Het |
| Lrrc40 |
C |
A |
3: 157,742,410 (GRCm39) |
F16L |
probably damaging |
Het |
| Magi2 |
A |
G |
5: 19,432,581 (GRCm39) |
K99E |
probably damaging |
Het |
| Me3 |
A |
G |
7: 89,495,461 (GRCm39) |
I357M |
probably benign |
Het |
| Med30 |
A |
G |
15: 52,582,761 (GRCm39) |
Y66C |
probably benign |
Het |
| Mief2 |
A |
T |
11: 60,621,783 (GRCm39) |
S118C |
probably damaging |
Het |
| Mylip |
A |
G |
13: 45,544,722 (GRCm39) |
S49G |
probably benign |
Het |
| Ncoa7 |
T |
A |
10: 30,528,972 (GRCm39) |
D107V |
probably damaging |
Het |
| Nvl |
C |
A |
1: 180,934,541 (GRCm39) |
V655F |
probably damaging |
Het |
| Olfml2b |
C |
T |
1: 170,508,645 (GRCm39) |
T501I |
probably benign |
Het |
| Ormdl2 |
T |
C |
10: 128,656,186 (GRCm39) |
I40V |
probably benign |
Het |
| Pde6b |
G |
T |
5: 108,568,142 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
A |
C |
12: 55,720,292 (GRCm39) |
L1785W |
probably damaging |
Het |
| Rnf112 |
A |
T |
11: 61,341,078 (GRCm39) |
|
probably null |
Het |
| Sema3c |
A |
T |
5: 17,781,866 (GRCm39) |
M1L |
possibly damaging |
Het |
| Sema3c |
T |
A |
5: 17,867,972 (GRCm39) |
Y128N |
probably damaging |
Het |
| Sema4b |
G |
A |
7: 79,866,789 (GRCm39) |
G255D |
probably damaging |
Het |
| Setd1a |
C |
T |
7: 127,394,997 (GRCm39) |
|
probably benign |
Het |
| Sirpb1a |
A |
C |
3: 15,482,111 (GRCm39) |
S72R |
possibly damaging |
Het |
| Slu7 |
T |
A |
11: 43,332,849 (GRCm39) |
|
probably null |
Het |
| Spata19 |
T |
C |
9: 27,309,276 (GRCm39) |
V59A |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Suclg1 |
T |
A |
6: 73,237,504 (GRCm39) |
V83E |
probably damaging |
Het |
| Syncrip |
G |
T |
9: 88,338,457 (GRCm39) |
R536S |
probably benign |
Het |
| Tap2 |
T |
C |
17: 34,424,432 (GRCm39) |
V55A |
probably damaging |
Het |
| Tekt4 |
T |
C |
17: 25,692,732 (GRCm39) |
I186T |
possibly damaging |
Het |
| Trpc6 |
C |
A |
9: 8,643,602 (GRCm39) |
D462E |
possibly damaging |
Het |
| Ubqln3 |
T |
G |
7: 103,791,170 (GRCm39) |
T307P |
probably damaging |
Het |
| Vmn1r64 |
A |
T |
7: 5,886,727 (GRCm39) |
I272K |
probably benign |
Het |
| Xpr1 |
T |
C |
1: 155,166,026 (GRCm39) |
T574A |
probably benign |
Het |
| Zfc3h1 |
A |
G |
10: 115,247,859 (GRCm39) |
T1021A |
possibly damaging |
Het |
| Zfp512 |
A |
T |
5: 31,628,501 (GRCm39) |
H159L |
probably damaging |
Het |
|
| Other mutations in Atp2c2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00966:Atp2c2
|
APN |
8 |
120,472,329 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation