Incidental Mutation 'R0503:Atp2c2'
| ID |
47260 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp2c2
|
| Ensembl Gene |
ENSMUSG00000034112 |
| Gene Name |
ATPase, Ca++ transporting, type 2C, member 2 |
| Synonyms |
1810010G06Rik |
| MMRRC Submission |
038698-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0503 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
120426748-120484456 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120461316 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 279
(E279G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095171]
[ENSMUST00000212454]
|
| AlphaFold |
A7L9Z8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000095171
AA Change: E279G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000092794
Gene: ENSMUSG00000034112
AA Change: E279G
| 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 |
0.5345 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
98% (57/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,322 (GRCm39) |
H755R |
possibly damaging |
Het |
| Ccdc65 |
G |
T |
15: 98,607,041 (GRCm39) |
D83Y |
probably damaging |
Het |
| Cd200r2 |
T |
A |
16: 44,698,325 (GRCm39) |
M1K |
probably null |
Het |
| Clca4c-ps |
A |
T |
3: 144,585,583 (GRCm39) |
|
noncoding transcript |
Het |
| Col6a6 |
A |
T |
9: 105,644,550 (GRCm39) |
M1246K |
probably benign |
Het |
| Comp |
A |
T |
8: 70,828,384 (GRCm39) |
N130I |
possibly damaging |
Het |
| Crot |
A |
G |
5: 9,026,075 (GRCm39) |
V304A |
possibly damaging |
Het |
| Dapk1 |
T |
A |
13: 60,878,662 (GRCm39) |
|
probably null |
Het |
| Dspp |
A |
T |
5: 104,325,122 (GRCm39) |
D495V |
unknown |
Het |
| Erich2 |
A |
T |
2: 70,340,043 (GRCm39) |
R169S |
probably damaging |
Het |
| Erich2 |
C |
A |
2: 70,371,119 (GRCm39) |
S426R |
unknown |
Het |
| Gab1 |
C |
T |
8: 81,526,771 (GRCm39) |
R109H |
probably damaging |
Het |
| Ggcx |
GTCTAT |
GTCTATCTAT |
6: 72,406,140 (GRCm39) |
|
probably null |
Het |
| Gria1 |
T |
G |
11: 57,080,542 (GRCm39) |
V175G |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,735,003 (GRCm39) |
V170M |
probably damaging |
Het |
| Irx4 |
T |
A |
13: 73,414,703 (GRCm39) |
|
probably null |
Het |
| Katnb1 |
A |
G |
8: 95,821,802 (GRCm39) |
T212A |
probably damaging |
Het |
| Kirrel1 |
A |
G |
3: 87,005,109 (GRCm39) |
S80P |
probably benign |
Het |
| Lrrc75b |
T |
C |
10: 75,389,488 (GRCm39) |
T81A |
possibly damaging |
Het |
| Macf1 |
A |
G |
4: 123,363,608 (GRCm39) |
S1775P |
probably damaging |
Het |
| Mmp10 |
A |
T |
9: 7,507,340 (GRCm39) |
I387F |
probably damaging |
Het |
| Mphosph10 |
A |
T |
7: 64,039,641 (GRCm39) |
C110S |
probably benign |
Het |
| Mpig6b |
A |
G |
17: 35,283,424 (GRCm39) |
|
probably benign |
Het |
| Mrps27 |
G |
T |
13: 99,546,303 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
| Mybpc2 |
A |
G |
7: 44,161,994 (GRCm39) |
|
probably benign |
Het |
| Nbea |
C |
T |
3: 55,550,257 (GRCm39) |
G2724S |
possibly damaging |
Het |
| Nck2 |
A |
G |
1: 43,572,728 (GRCm39) |
M1V |
probably null |
Het |
| Nefl |
T |
A |
14: 68,321,432 (GRCm39) |
D7E |
probably benign |
Het |
| Nktr |
T |
A |
9: 121,579,806 (GRCm39) |
|
probably benign |
Het |
| Nlrp12 |
C |
T |
7: 3,298,007 (GRCm39) |
E55K |
probably damaging |
Het |
| Nsun7 |
T |
A |
5: 66,440,924 (GRCm39) |
|
probably benign |
Het |
| Or10d4c |
A |
G |
9: 39,558,772 (GRCm39) |
Y250C |
probably damaging |
Het |
| Or4c109 |
C |
T |
2: 88,818,322 (GRCm39) |
V75I |
probably benign |
Het |
| Or4k5 |
T |
A |
14: 50,385,935 (GRCm39) |
Y132F |
probably damaging |
Het |
| Or51a5 |
A |
T |
7: 102,771,643 (GRCm39) |
M112K |
possibly damaging |
Het |
| Or6c2b |
T |
C |
10: 128,947,671 (GRCm39) |
T208A |
probably damaging |
Het |
| Or6f2 |
T |
C |
7: 139,756,354 (GRCm39) |
V113A |
possibly damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,046,217 (GRCm39) |
T165A |
probably damaging |
Het |
| Pikfyve |
A |
T |
1: 65,259,058 (GRCm39) |
H410L |
probably damaging |
Het |
| Polr3c |
A |
T |
3: 96,620,952 (GRCm39) |
|
probably null |
Het |
| Ptdss2 |
T |
A |
7: 140,731,710 (GRCm39) |
|
probably benign |
Het |
| Ptprg |
A |
G |
14: 12,237,138 (GRCm38) |
M1386V |
possibly damaging |
Het |
| Ptpru |
T |
C |
4: 131,520,954 (GRCm39) |
N784S |
probably benign |
Het |
| Rfx4 |
T |
A |
10: 84,730,196 (GRCm39) |
I495K |
possibly damaging |
Het |
| Serpina12 |
C |
A |
12: 103,997,418 (GRCm39) |
A368S |
probably damaging |
Het |
| Tmem39b |
A |
C |
4: 129,580,779 (GRCm39) |
Y238D |
possibly damaging |
Het |
| Tspan11 |
T |
C |
6: 127,916,075 (GRCm39) |
W124R |
probably benign |
Het |
| Ttll10 |
T |
C |
4: 156,132,005 (GRCm39) |
|
probably benign |
Het |
| Tyro3 |
T |
C |
2: 119,633,711 (GRCm39) |
|
probably benign |
Het |
| Unc79 |
A |
G |
12: 103,045,127 (GRCm39) |
M644V |
probably benign |
Het |
| Vmn1r196 |
G |
A |
13: 22,477,557 (GRCm39) |
M65I |
probably benign |
Het |
| Vmn2r85 |
T |
C |
10: 130,258,609 (GRCm39) |
Y482C |
probably damaging |
Het |
| Zfp940 |
A |
G |
7: 29,545,445 (GRCm39) |
|
probably benign |
Het |
| Zfyve9 |
A |
T |
4: 108,576,961 (GRCm39) |
L40* |
probably null |
Het |
| Zkscan1 |
T |
A |
5: 138,091,588 (GRCm39) |
I107N |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCAGCTTCACAGGCGAAGTG -3'
(R):5'- GTATGATCCCAAATCCCGTGTCCTC -3'
Sequencing Primer
(F):5'- CCTGAGCAACGTGGTCTTC -3'
(R):5'- TCTGTAGGGGAGCAGGGC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation