Incidental Mutation 'R1225:Atp2c2'
| ID |
152868 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp2c2
|
| Ensembl Gene |
ENSMUSG00000034112 |
| Gene Name |
ATPase, Ca++ transporting, type 2C, member 2 |
| Synonyms |
1810010G06Rik |
| MMRRC Submission |
039294-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1225 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
120426748-120484456 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 120461984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 286
(Q286K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095171]
[ENSMUST00000212454]
|
| AlphaFold |
A7L9Z8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095171
AA Change: Q286K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092794
Gene: ENSMUSG00000034112
AA Change: Q286K
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212454
|
| Meta Mutation Damage Score |
0.4116 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730013G03Rik |
T |
A |
1: 192,515,953 (GRCm39) |
|
noncoding transcript |
Het |
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,980,247 (GRCm39) |
D510E |
probably damaging |
Het |
| Angptl4 |
C |
T |
17: 34,000,165 (GRCm39) |
A68T |
possibly damaging |
Het |
| Arid1a |
A |
G |
4: 133,414,676 (GRCm39) |
V1185A |
unknown |
Het |
| Blzf1 |
T |
C |
1: 164,127,165 (GRCm39) |
E209G |
probably damaging |
Het |
| Bmp6 |
A |
G |
13: 38,530,257 (GRCm39) |
T117A |
probably benign |
Het |
| Cmip |
T |
C |
8: 118,172,110 (GRCm39) |
F394L |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,739,238 (GRCm39) |
D330V |
probably damaging |
Het |
| Crebbp |
A |
T |
16: 3,944,820 (GRCm39) |
S491R |
probably benign |
Het |
| Dedd |
G |
A |
1: 171,167,863 (GRCm39) |
|
probably null |
Het |
| Dennd4a |
A |
G |
9: 64,818,957 (GRCm39) |
H1704R |
probably benign |
Het |
| Dicer1 |
C |
T |
12: 104,657,866 (GRCm39) |
V1903I |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 65,761,886 (GRCm39) |
V3868A |
possibly damaging |
Het |
| Eif5b |
A |
G |
1: 38,076,709 (GRCm39) |
I674V |
probably damaging |
Het |
| F13a1 |
T |
C |
13: 37,209,825 (GRCm39) |
N47D |
probably benign |
Het |
| Fancd2 |
T |
C |
6: 113,512,822 (GRCm39) |
S53P |
probably damaging |
Het |
| Fsip1 |
C |
A |
2: 118,078,831 (GRCm39) |
L170F |
probably damaging |
Het |
| Git2 |
A |
T |
5: 114,871,239 (GRCm39) |
|
probably benign |
Het |
| Gm9742 |
T |
C |
13: 8,079,875 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr4 |
C |
T |
12: 84,024,820 (GRCm39) |
E334K |
probably benign |
Het |
| Hoga1 |
T |
G |
19: 42,058,628 (GRCm39) |
V110G |
probably damaging |
Het |
| Ighv6-4 |
T |
A |
12: 114,370,170 (GRCm39) |
D75V |
probably damaging |
Het |
| Inhca |
A |
T |
9: 103,132,038 (GRCm39) |
|
probably benign |
Het |
| Med15 |
G |
T |
16: 17,540,652 (GRCm39) |
S31R |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,461,954 (GRCm39) |
E1467G |
probably damaging |
Het |
| Or2ag1 |
A |
T |
7: 106,313,731 (GRCm39) |
D52E |
probably benign |
Het |
| Or2t6 |
T |
A |
14: 14,175,600 (GRCm38) |
I161F |
possibly damaging |
Het |
| Or5ac19 |
T |
C |
16: 59,089,587 (GRCm39) |
T148A |
probably benign |
Het |
| Papss1 |
T |
C |
3: 131,285,062 (GRCm39) |
|
probably benign |
Het |
| Pde4d |
A |
T |
13: 110,086,755 (GRCm39) |
M610L |
probably benign |
Het |
| Prickle4 |
T |
G |
17: 47,999,614 (GRCm39) |
|
probably null |
Het |
| Sema3g |
A |
G |
14: 30,942,636 (GRCm39) |
Y79C |
probably damaging |
Het |
| Setbp1 |
T |
A |
18: 78,901,423 (GRCm39) |
D748V |
probably damaging |
Het |
| Slc46a2 |
A |
T |
4: 59,914,125 (GRCm39) |
V266E |
probably benign |
Het |
| Slc9a8 |
T |
C |
2: 167,313,443 (GRCm39) |
I435T |
probably benign |
Het |
| Snx29 |
T |
C |
16: 11,238,550 (GRCm39) |
|
probably benign |
Het |
| Son |
C |
T |
16: 91,454,228 (GRCm39) |
R992C |
probably damaging |
Het |
| Stxbp5 |
T |
C |
10: 9,688,135 (GRCm39) |
N389D |
possibly damaging |
Het |
| Vmn1r28 |
C |
T |
6: 58,242,951 (GRCm39) |
Q265* |
probably null |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAATTCCATGTGTGCCTTGACACC -3'
(R):5'- CCAAAGAGGAGACCCCAATTTCAAGTG -3'
Sequencing Primer
(F):5'- GTGCCTTGACACCCCCAC -3'
(R):5'- aggtggtgttggggagg -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation