Incidental Mutation 'R1745:Atp2c2'
ID |
193933 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp2c2
|
Ensembl Gene |
ENSMUSG00000034112 |
Gene Name |
ATPase, Ca++ transporting, type 2C, member 2 |
Synonyms |
1810010G06Rik |
MMRRC Submission |
039777-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1745 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
120426748-120484456 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 120451833 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 133
(V133I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148585
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095171]
[ENSMUST00000212454]
|
AlphaFold |
A7L9Z8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095171
AA Change: V133I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000092794 Gene: ENSMUSG00000034112 AA Change: V133I
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
AA Change: V133I
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
Meta Mutation Damage Score |
0.0842 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
Validation Efficiency |
98% (54/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
A |
T |
17: 46,623,359 (GRCm39) |
V851E |
probably benign |
Het |
Adam28 |
A |
G |
14: 68,870,620 (GRCm39) |
I351T |
probably benign |
Het |
Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
Ap2a1 |
T |
C |
7: 44,556,369 (GRCm39) |
E285G |
probably damaging |
Het |
Arfgef1 |
A |
C |
1: 10,243,480 (GRCm39) |
I1023R |
probably damaging |
Het |
Bpifb6 |
A |
G |
2: 153,753,403 (GRCm39) |
T401A |
possibly damaging |
Het |
Capn3 |
G |
A |
2: 120,320,170 (GRCm39) |
V283M |
possibly damaging |
Het |
Chd6 |
A |
T |
2: 160,823,587 (GRCm39) |
V1261E |
probably damaging |
Het |
Col22a1 |
C |
T |
15: 71,878,636 (GRCm39) |
A174T |
probably damaging |
Het |
Crnn |
T |
C |
3: 93,054,198 (GRCm39) |
V27A |
probably benign |
Het |
Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
Dgkd |
T |
C |
1: 87,859,766 (GRCm39) |
|
probably null |
Het |
Diaph3 |
A |
G |
14: 87,203,996 (GRCm39) |
L554P |
probably damaging |
Het |
Ephb4 |
A |
T |
5: 137,358,696 (GRCm39) |
H293L |
probably benign |
Het |
Erbin |
G |
T |
13: 103,975,957 (GRCm39) |
H646N |
probably damaging |
Het |
Faiml |
T |
C |
9: 99,116,511 (GRCm39) |
N60D |
probably benign |
Het |
Fem1al |
A |
G |
11: 29,774,723 (GRCm39) |
S245P |
probably benign |
Het |
Flot1 |
A |
G |
17: 36,135,552 (GRCm39) |
E102G |
probably damaging |
Het |
Fryl |
G |
A |
5: 73,190,204 (GRCm39) |
|
probably benign |
Het |
Gad1-ps |
A |
T |
10: 99,281,386 (GRCm39) |
|
noncoding transcript |
Het |
Gtf3c3 |
A |
G |
1: 54,473,371 (GRCm39) |
S81P |
probably damaging |
Het |
Hs1bp3 |
C |
T |
12: 8,371,690 (GRCm39) |
Q91* |
probably null |
Het |
Igf1r |
T |
C |
7: 67,819,661 (GRCm39) |
C324R |
probably damaging |
Het |
Il23r |
G |
A |
6: 67,443,275 (GRCm39) |
T276I |
probably damaging |
Het |
Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
Kctd1 |
A |
T |
18: 15,196,263 (GRCm39) |
|
probably benign |
Het |
Kmt2b |
A |
T |
7: 30,285,275 (GRCm39) |
M539K |
possibly damaging |
Het |
Man2b1 |
T |
A |
8: 85,820,563 (GRCm39) |
F617I |
probably damaging |
Het |
Med15 |
G |
A |
16: 17,473,570 (GRCm39) |
|
probably benign |
Het |
Myo9b |
A |
G |
8: 71,806,691 (GRCm39) |
K1543R |
probably damaging |
Het |
N4bp2 |
A |
G |
5: 65,948,165 (GRCm39) |
Y265C |
probably benign |
Het |
N4bp2l2 |
A |
T |
5: 150,585,424 (GRCm39) |
N185K |
probably benign |
Het |
Nkx2-1 |
A |
G |
12: 56,580,529 (GRCm39) |
M137T |
probably benign |
Het |
Or51q1c |
A |
G |
7: 103,653,270 (GRCm39) |
T269A |
probably benign |
Het |
Prickle2 |
A |
T |
6: 92,353,574 (GRCm39) |
Y631N |
probably damaging |
Het |
Ptpro |
A |
G |
6: 137,377,643 (GRCm39) |
T698A |
probably benign |
Het |
Rapgef3 |
T |
C |
15: 97,648,059 (GRCm39) |
I690V |
probably benign |
Het |
Rnf44 |
G |
A |
13: 54,830,005 (GRCm39) |
R271W |
probably damaging |
Het |
Rundc3a |
GAGCC |
GAGCCAGCC |
11: 102,291,739 (GRCm39) |
|
probably null |
Het |
Ryr2 |
A |
G |
13: 11,805,153 (GRCm39) |
Y904H |
probably damaging |
Het |
Suz12 |
T |
C |
11: 79,912,922 (GRCm39) |
L322P |
probably damaging |
Het |
Tnfsf13 |
G |
A |
11: 69,575,973 (GRCm39) |
A38V |
probably benign |
Het |
Topbp1 |
G |
A |
9: 103,186,044 (GRCm39) |
R62H |
probably benign |
Het |
Tor1aip1 |
G |
T |
1: 155,906,180 (GRCm39) |
|
probably null |
Het |
Trpv4 |
A |
T |
5: 114,771,215 (GRCm39) |
V438E |
probably damaging |
Het |
Tsku |
A |
T |
7: 98,001,386 (GRCm39) |
V315E |
possibly damaging |
Het |
Ttc38 |
T |
C |
15: 85,717,373 (GRCm39) |
L16P |
probably damaging |
Het |
Vmn1r170 |
A |
G |
7: 23,305,759 (GRCm39) |
I54V |
probably damaging |
Het |
Vmn1r71 |
T |
C |
7: 10,482,196 (GRCm39) |
D98G |
probably benign |
Het |
Wdfy3 |
A |
T |
5: 102,096,795 (GRCm39) |
D334E |
probably damaging |
Het |
Zfhx3 |
T |
A |
8: 109,682,494 (GRCm39) |
F3311Y |
unknown |
Het |
Zswim9 |
A |
G |
7: 13,003,482 (GRCm39) |
S123P |
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 |
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 |
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'- AGCCCACAAGTCTGTCAATGGTG -3'
(R):5'- GGTGCCTGAAAATGAGGTTGTCCTG -3'
Sequencing Primer
(F):5'- TAATGGATTGAGCAGTCCCC -3'
(R):5'- AGGTTGTCCTGTAGCCTCTG -3'
|
Posted On |
2014-05-23 |