Incidental Mutation 'R1580:Atp2c2'
| ID |
171359 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp2c2
|
| Ensembl Gene |
ENSMUSG00000034112 |
| Gene Name |
ATPase, Ca++ transporting, type 2C, member 2 |
| Synonyms |
1810010G06Rik |
| MMRRC Submission |
039617-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1580 (G1)
|
| Quality Score |
202 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
120426748-120484456 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120479726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 752
(N752D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095171]
|
| AlphaFold |
A7L9Z8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095171
AA Change: N752D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000092794
Gene: ENSMUSG00000034112
AA Change: N752D
| 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 |
|
| Meta Mutation Damage Score |
0.0688 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 89.8%
|
| Validation Efficiency |
96% (43/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
C |
T |
1: 71,305,124 (GRCm39) |
V2044I |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,614,279 (GRCm39) |
|
probably null |
Het |
| Arhgef38 |
T |
C |
3: 132,839,465 (GRCm39) |
Q526R |
probably benign |
Het |
| Atp6v0a1 |
T |
C |
11: 100,920,030 (GRCm39) |
I221T |
probably damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,355,673 (GRCm39) |
V551A |
possibly damaging |
Het |
| B3galnt1 |
A |
G |
3: 69,483,040 (GRCm39) |
S74P |
possibly damaging |
Het |
| Bcl2l13 |
A |
G |
6: 120,842,675 (GRCm39) |
I123V |
probably benign |
Het |
| Brms1l |
A |
T |
12: 55,915,007 (GRCm39) |
K305N |
probably damaging |
Het |
| Ccdc82 |
C |
T |
9: 13,252,385 (GRCm39) |
R226C |
probably damaging |
Het |
| Chst9 |
T |
G |
18: 15,586,122 (GRCm39) |
K147T |
probably benign |
Het |
| Clec16a |
A |
G |
16: 10,413,762 (GRCm39) |
R390G |
probably damaging |
Het |
| Clec5a |
G |
T |
6: 40,562,153 (GRCm39) |
H4N |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 15,975,299 (GRCm39) |
Q2970L |
probably damaging |
Het |
| Cyp2a4 |
T |
C |
7: 26,007,076 (GRCm39) |
I61T |
possibly damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,378,884 (GRCm39) |
K379I |
possibly damaging |
Het |
| Cyp3a16 |
T |
C |
5: 145,378,885 (GRCm39) |
K379E |
probably damaging |
Het |
| Dok2 |
A |
G |
14: 71,014,397 (GRCm39) |
D195G |
probably benign |
Het |
| Emilin1 |
A |
G |
5: 31,074,764 (GRCm39) |
E335G |
probably damaging |
Het |
| Gm7361 |
G |
T |
5: 26,462,768 (GRCm39) |
L3F |
probably damaging |
Het |
| Haus1 |
T |
C |
18: 77,854,620 (GRCm39) |
D50G |
probably damaging |
Het |
| Igf1r |
T |
C |
7: 67,857,617 (GRCm39) |
V1099A |
probably benign |
Het |
| Kif15 |
T |
C |
9: 122,789,021 (GRCm39) |
V71A |
probably benign |
Het |
| Klk10 |
C |
T |
7: 43,432,286 (GRCm39) |
A73V |
probably damaging |
Het |
| Lins1 |
C |
A |
7: 66,364,239 (GRCm39) |
D711E |
probably benign |
Het |
| Mbtps1 |
C |
T |
8: 120,265,639 (GRCm39) |
V303I |
possibly damaging |
Het |
| Mest |
G |
A |
6: 30,745,822 (GRCm39) |
|
probably benign |
Het |
| Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
| Or14c43 |
A |
G |
7: 86,114,658 (GRCm39) |
E13G |
probably benign |
Het |
| Or6c210 |
G |
T |
10: 129,496,184 (GRCm39) |
V170F |
probably benign |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Rtf2 |
A |
G |
2: 172,287,285 (GRCm39) |
D68G |
probably damaging |
Het |
| Sbspon |
C |
A |
1: 15,962,692 (GRCm39) |
C62F |
probably damaging |
Het |
| Spata31f3 |
T |
C |
4: 42,874,020 (GRCm39) |
|
probably null |
Het |
| Spg7 |
T |
A |
8: 123,816,977 (GRCm39) |
|
probably benign |
Het |
| Trabd2b |
T |
C |
4: 114,437,531 (GRCm39) |
V236A |
possibly damaging |
Het |
| Vmn2r10 |
A |
T |
5: 109,154,117 (GRCm39) |
N62K |
possibly damaging |
Het |
| Vmn2r45 |
T |
G |
7: 8,474,746 (GRCm39) |
S761R |
possibly damaging |
Het |
| Zfp580 |
C |
T |
7: 5,056,284 (GRCm39) |
R215C |
probably damaging |
Het |
| Zfpm2 |
A |
G |
15: 40,966,605 (GRCm39) |
D898G |
possibly 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 |
|
|
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 |
|
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'- AGGCAAGGGCATCTTCTACAACATC -3'
(R):5'- ACATTTTCCCATCAGTGAAAGGCGG -3'
Sequencing Primer
(F):5'- ATCAAGAACTTTGTCCGTTTCCAG -3'
(R):5'- CTGACTTTACAGTGGGACCGAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation