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 |
|
| 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 |
119700009-119757717 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119752987 bp (GRCm38)
|
| 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: 71,265,965 (GRCm38) |
V2044I |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,466,160 (GRCm38) |
|
probably null |
Het |
| Arhgef38 |
T |
C |
3: 133,133,704 (GRCm38) |
Q526R |
probably benign |
Het |
| Atp6v0a1 |
T |
C |
11: 101,029,204 (GRCm38) |
I221T |
probably damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,355,673 (GRCm38) |
V551A |
possibly damaging |
Het |
| B3galnt1 |
A |
G |
3: 69,575,707 (GRCm38) |
S74P |
possibly damaging |
Het |
| Bcl2l13 |
A |
G |
6: 120,865,714 (GRCm38) |
I123V |
probably benign |
Het |
| Brms1l |
A |
T |
12: 55,868,222 (GRCm38) |
K305N |
probably damaging |
Het |
| Ccdc82 |
C |
T |
9: 13,252,760 (GRCm38) |
R226C |
probably damaging |
Het |
| Chst9 |
T |
G |
18: 15,453,065 (GRCm38) |
K147T |
probably benign |
Het |
| Clec16a |
A |
G |
16: 10,595,898 (GRCm38) |
R390G |
probably damaging |
Het |
| Clec5a |
G |
T |
6: 40,585,219 (GRCm38) |
H4N |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 15,925,299 (GRCm38) |
Q2970L |
probably damaging |
Het |
| Cyp2a4 |
T |
C |
7: 26,307,651 (GRCm38) |
I61T |
possibly damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,442,074 (GRCm38) |
K379I |
possibly damaging |
Het |
| Cyp3a16 |
T |
C |
5: 145,442,075 (GRCm38) |
K379E |
probably damaging |
Het |
| Dok2 |
A |
G |
14: 70,776,957 (GRCm38) |
D195G |
probably benign |
Het |
| Emilin1 |
A |
G |
5: 30,917,420 (GRCm38) |
E335G |
probably damaging |
Het |
| Fam205c |
T |
C |
4: 42,874,020 (GRCm38) |
|
probably null |
Het |
| Gm7361 |
G |
T |
5: 26,257,770 (GRCm38) |
L3F |
probably damaging |
Het |
| Haus1 |
T |
C |
18: 77,766,920 (GRCm38) |
D50G |
probably damaging |
Het |
| Igf1r |
T |
C |
7: 68,207,869 (GRCm38) |
V1099A |
probably benign |
Het |
| Kif15 |
T |
C |
9: 122,959,956 (GRCm38) |
V71A |
probably benign |
Het |
| Klk10 |
C |
T |
7: 43,782,862 (GRCm38) |
A73V |
probably damaging |
Het |
| Lins1 |
C |
A |
7: 66,714,491 (GRCm38) |
D711E |
probably benign |
Het |
| Mbtps1 |
C |
T |
8: 119,538,900 (GRCm38) |
V303I |
possibly damaging |
Het |
| Mest |
G |
A |
6: 30,745,823 (GRCm38) |
|
probably benign |
Het |
| Nup214 |
C |
T |
2: 32,034,466 (GRCm38) |
S1669F |
probably damaging |
Het |
| Olfr299 |
A |
G |
7: 86,465,450 (GRCm38) |
E13G |
probably benign |
Het |
| Olfr800 |
G |
T |
10: 129,660,315 (GRCm38) |
V170F |
probably benign |
Het |
| Rfwd3 |
C |
T |
8: 111,288,242 (GRCm38) |
R326Q |
probably damaging |
Het |
| Rtf2 |
A |
G |
2: 172,445,365 (GRCm38) |
D68G |
probably damaging |
Het |
| Sbspon |
C |
A |
1: 15,892,468 (GRCm38) |
C62F |
probably damaging |
Het |
| Spg7 |
T |
A |
8: 123,090,238 (GRCm38) |
|
probably benign |
Het |
| Trabd2b |
T |
C |
4: 114,580,334 (GRCm38) |
V236A |
possibly damaging |
Het |
| Vmn2r10 |
A |
T |
5: 109,006,251 (GRCm38) |
N62K |
possibly damaging |
Het |
| Vmn2r45 |
T |
G |
7: 8,471,747 (GRCm38) |
S761R |
possibly damaging |
Het |
| Zfp580 |
C |
T |
7: 5,053,285 (GRCm38) |
R215C |
probably damaging |
Het |
| Zfpm2 |
A |
G |
15: 41,103,209 (GRCm38) |
D898G |
possibly damaging |
Het |
|
| Other mutations in Atp2c2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00966:Atp2c2
|
APN |
8 |
119,745,590 (GRCm38) |
missense |
probably benign |
|
|
IGL01624:Atp2c2
|
APN |
8 |
119,757,450 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02133:Atp2c2
|
APN |
8 |
119,754,335 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02221:Atp2c2
|
APN |
8 |
119,744,334 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02606:Atp2c2
|
APN |
8 |
119,730,274 (GRCm38) |
missense |
probably benign |
|
|
IGL02657:Atp2c2
|
APN |
8 |
119,753,032 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02839:Atp2c2
|
APN |
8 |
119,749,120 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
IGL03122:Atp2c2
|
APN |
8 |
119,742,675 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R0031:Atp2c2
|
UTSW |
8 |
119,749,062 (GRCm38) |
missense |
probably benign |
0.15 |
|
R0372:Atp2c2
|
UTSW |
8 |
119,757,441 (GRCm38) |
missense |
probably benign |
|
|
R0502:Atp2c2
|
UTSW |
8 |
119,734,577 (GRCm38) |
missense |
probably null |
0.99 |
|
R0503:Atp2c2
|
UTSW |
8 |
119,734,577 (GRCm38) |
missense |
probably null |
0.99 |
|
R0584:Atp2c2
|
UTSW |
8 |
119,738,418 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1225:Atp2c2
|
UTSW |
8 |
119,735,245 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1620:Atp2c2
|
UTSW |
8 |
119,749,126 (GRCm38) |
missense |
probably benign |
|
|
R1638:Atp2c2
|
UTSW |
8 |
119,756,003 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R1745:Atp2c2
|
UTSW |
8 |
119,725,094 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1746:Atp2c2
|
UTSW |
8 |
119,734,443 (GRCm38) |
unclassified |
probably benign |
|
|
R1907:Atp2c2
|
UTSW |
8 |
119,749,876 (GRCm38) |
splice site |
probably benign |
|
|
R2104:Atp2c2
|
UTSW |
8 |
119,749,845 (GRCm38) |
missense |
probably benign |
|
|
R2151:Atp2c2
|
UTSW |
8 |
119,756,102 (GRCm38) |
missense |
probably benign |
|
|
R2152:Atp2c2
|
UTSW |
8 |
119,756,102 (GRCm38) |
missense |
probably benign |
|
|
R2154:Atp2c2
|
UTSW |
8 |
119,756,102 (GRCm38) |
missense |
probably benign |
|
|
R2207:Atp2c2
|
UTSW |
8 |
119,748,309 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3874:Atp2c2
|
UTSW |
8 |
119,735,296 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R3912:Atp2c2
|
UTSW |
8 |
119,721,276 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4093:Atp2c2
|
UTSW |
8 |
119,749,871 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4782:Atp2c2
|
UTSW |
8 |
119,749,152 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4801:Atp2c2
|
UTSW |
8 |
119,747,687 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4973:Atp2c2
|
UTSW |
8 |
119,754,263 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5485:Atp2c2
|
UTSW |
8 |
119,753,062 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5978:Atp2c2
|
UTSW |
8 |
119,749,875 (GRCm38) |
splice site |
probably null |
|
|
R6377:Atp2c2
|
UTSW |
8 |
119,726,354 (GRCm38) |
missense |
probably benign |
0.10 |
|
R6613:Atp2c2
|
UTSW |
8 |
119,756,021 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6765:Atp2c2
|
UTSW |
8 |
119,753,017 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6836:Atp2c2
|
UTSW |
8 |
119,734,415 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6963:Atp2c2
|
UTSW |
8 |
119,730,267 (GRCm38) |
nonsense |
probably null |
|
|
R7220:Atp2c2
|
UTSW |
8 |
119,745,561 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7238:Atp2c2
|
UTSW |
8 |
119,742,421 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R7373:Atp2c2
|
UTSW |
8 |
119,730,252 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7438:Atp2c2
|
UTSW |
8 |
119,748,197 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7573:Atp2c2
|
UTSW |
8 |
119,751,269 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7677:Atp2c2
|
UTSW |
8 |
119,748,176 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7737:Atp2c2
|
UTSW |
8 |
119,742,395 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7912:Atp2c2
|
UTSW |
8 |
119,730,178 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R8821:Atp2c2
|
UTSW |
8 |
119,749,294 (GRCm38) |
splice site |
probably null |
|
|
R8831:Atp2c2
|
UTSW |
8 |
119,749,294 (GRCm38) |
splice site |
probably null |
|
|
R9200:Atp2c2
|
UTSW |
8 |
119,748,260 (GRCm38) |
nonsense |
probably null |
|
|
R9211:Atp2c2
|
UTSW |
8 |
119,719,293 (GRCm38) |
missense |
probably benign |
|
|
R9246:Atp2c2
|
UTSW |
8 |
119,730,250 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9285:Atp2c2
|
UTSW |
8 |
119,738,402 (GRCm38) |
missense |
probably benign |
0.00 |
|
RF004:Atp2c2
|
UTSW |
8 |
119,752,822 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF012:Atp2c2
|
UTSW |
8 |
119,745,514 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
Z1177:Atp2c2
|
UTSW |
8 |
119,734,385 (GRCm38) |
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