Incidental Mutation 'R7373:Atp2c2'
ID |
572221 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp2c2
|
Ensembl Gene |
ENSMUSG00000034112 |
Gene Name |
ATPase, Ca++ transporting, type 2C, member 2 |
Synonyms |
1810010G06Rik |
MMRRC Submission |
045456-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7373 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
120426748-120484456 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 120456991 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 198
(I198F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092794
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095171]
[ENSMUST00000212454]
|
AlphaFold |
A7L9Z8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095171
AA Change: I198F
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000092794 Gene: ENSMUSG00000034112 AA Change: I198F
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 |
0.3133 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
98% (57/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts2 |
G |
A |
11: 50,686,262 (GRCm39) |
A1027T |
probably benign |
Het |
Aldh7a1 |
G |
A |
18: 56,675,389 (GRCm39) |
T260M |
possibly damaging |
Het |
Anks3 |
T |
C |
16: 4,773,735 (GRCm39) |
Y187C |
probably benign |
Het |
Bsn |
T |
C |
9: 107,990,683 (GRCm39) |
T1690A |
probably damaging |
Het |
Catsper3 |
T |
C |
13: 55,955,945 (GRCm39) |
I350T |
possibly damaging |
Het |
Cdcp1 |
C |
T |
9: 123,006,965 (GRCm39) |
R594H |
probably damaging |
Het |
Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
Cldn1 |
G |
T |
16: 26,179,606 (GRCm39) |
P154T |
probably damaging |
Het |
Cntnap5a |
A |
T |
1: 116,508,367 (GRCm39) |
N1293I |
probably benign |
Het |
Cpsf4l |
C |
T |
11: 113,590,657 (GRCm39) |
|
probably null |
Het |
Crybg1 |
T |
C |
10: 43,880,136 (GRCm39) |
T351A |
probably benign |
Het |
Csmd1 |
T |
C |
8: 16,042,713 (GRCm39) |
N2340S |
probably damaging |
Het |
Dennd4a |
C |
A |
9: 64,804,551 (GRCm39) |
Q1297K |
probably benign |
Het |
Dll3 |
A |
G |
7: 27,994,057 (GRCm39) |
V460A |
probably benign |
Het |
Dnah8 |
T |
C |
17: 30,986,939 (GRCm39) |
|
probably null |
Het |
Dst |
G |
T |
1: 34,227,472 (GRCm39) |
L1688F |
probably benign |
Het |
Ehmt1 |
A |
G |
2: 24,809,585 (GRCm39) |
M1T |
probably null |
Het |
Fasn |
A |
T |
11: 120,704,802 (GRCm39) |
L1261Q |
possibly damaging |
Het |
Fat1 |
A |
G |
8: 45,479,702 (GRCm39) |
D2916G |
probably damaging |
Het |
Fgfr3 |
C |
A |
5: 33,885,034 (GRCm39) |
F49L |
probably benign |
Het |
Hlx |
T |
C |
1: 184,463,062 (GRCm39) |
T197A |
probably benign |
Het |
Hormad1 |
A |
T |
3: 95,483,628 (GRCm39) |
T147S |
probably damaging |
Het |
Igf1r |
T |
A |
7: 67,844,826 (GRCm39) |
Y866* |
probably null |
Het |
Itgb8 |
A |
G |
12: 119,166,210 (GRCm39) |
V107A |
probably benign |
Het |
Kat2a |
C |
T |
11: 100,599,392 (GRCm39) |
A533T |
probably benign |
Het |
Kif20b |
T |
C |
19: 34,913,071 (GRCm39) |
L328P |
probably damaging |
Het |
Lims1 |
T |
C |
10: 58,245,442 (GRCm39) |
F157S |
probably damaging |
Het |
Lrp2 |
G |
T |
2: 69,331,036 (GRCm39) |
H1673Q |
probably damaging |
Het |
Lrrc46 |
C |
A |
11: 96,929,706 (GRCm39) |
M43I |
probably benign |
Het |
Lrrk2 |
T |
C |
15: 91,584,207 (GRCm39) |
|
probably null |
Het |
Meox2 |
A |
T |
12: 37,158,797 (GRCm39) |
|
probably benign |
Het |
Mff |
A |
G |
1: 82,714,838 (GRCm39) |
|
probably null |
Het |
Mfsd5 |
T |
A |
15: 102,189,427 (GRCm39) |
F266L |
probably damaging |
Het |
Miga2 |
A |
G |
2: 30,272,083 (GRCm39) |
T468A |
probably damaging |
Het |
Mmel1 |
T |
A |
4: 154,973,665 (GRCm39) |
L316Q |
not run |
Het |
Ndufa9 |
C |
A |
6: 126,811,421 (GRCm39) |
G232C |
probably damaging |
Het |
Obox2 |
A |
T |
7: 15,131,145 (GRCm39) |
K84* |
probably null |
Het |
Or4f58 |
T |
A |
2: 111,851,787 (GRCm39) |
R137S |
probably benign |
Het |
Or51a39 |
T |
A |
7: 102,363,306 (GRCm39) |
I105F |
possibly damaging |
Het |
Otogl |
G |
T |
10: 107,737,112 (GRCm39) |
Q101K |
probably damaging |
Het |
Pcnx2 |
C |
T |
8: 126,534,766 (GRCm39) |
V1288M |
probably damaging |
Het |
Pde10a |
T |
A |
17: 9,161,824 (GRCm39) |
W220R |
probably benign |
Het |
Recql5 |
T |
C |
11: 115,819,198 (GRCm39) |
T123A |
possibly damaging |
Het |
Rpl28 |
T |
C |
7: 4,796,602 (GRCm39) |
V61A |
probably benign |
Het |
Secisbp2l |
A |
T |
2: 125,599,191 (GRCm39) |
M494K |
probably damaging |
Het |
Sh3bgr |
G |
A |
16: 96,007,035 (GRCm39) |
E2K |
unknown |
Het |
Shcbp1l |
C |
A |
1: 153,300,986 (GRCm39) |
T6K |
probably benign |
Het |
Slc22a15 |
A |
C |
3: 101,785,213 (GRCm39) |
L353R |
possibly damaging |
Het |
Sqle |
T |
C |
15: 59,189,658 (GRCm39) |
I100T |
probably benign |
Het |
Tas2r106 |
A |
T |
6: 131,655,317 (GRCm39) |
L178H |
probably damaging |
Het |
Tll1 |
A |
T |
8: 64,504,391 (GRCm39) |
N668K |
probably damaging |
Het |
Tm7sf2 |
A |
G |
19: 6,116,676 (GRCm39) |
S118P |
probably benign |
Het |
Tmco5 |
G |
T |
2: 116,717,226 (GRCm39) |
V169L |
probably benign |
Het |
Trpv1 |
A |
G |
11: 73,131,499 (GRCm39) |
K346E |
probably damaging |
Het |
Ttk |
G |
A |
9: 83,736,930 (GRCm39) |
R463H |
probably benign |
Het |
Vmn2r120 |
G |
T |
17: 57,816,406 (GRCm39) |
L650I |
probably benign |
Het |
Vmn2r58 |
C |
T |
7: 41,487,212 (GRCm39) |
C561Y |
probably damaging |
Het |
Vmn2r-ps117 |
A |
T |
17: 19,044,948 (GRCm39) |
Q455L |
probably benign |
Het |
Zfr |
T |
A |
15: 12,140,645 (GRCm39) |
S231T |
unknown |
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 |
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 |
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'- TACAAAGTAGGGCTGTAAAGTCTGG -3'
(R):5'- GACCATTGTTGACCATGGGTAAC -3'
Sequencing Primer
(F):5'- AAAGTCTGGAGAGTCTGCCTGC -3'
(R):5'- TTGACCATGGGTAACAATCTGG -3'
|
Posted On |
2019-09-13 |