Incidental Mutation 'IGL02031:Pp2d1'
ID |
184355 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pp2d1
|
Ensembl Gene |
ENSMUSG00000044957 |
Gene Name |
protein phosphatase 2C-like domain containing 1 |
Synonyms |
4921523A10Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
IGL02031
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
53814488-53846479 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 53815468 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 419
(T419S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056682
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017975]
[ENSMUST00000056198]
|
AlphaFold |
Q8BVT6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000017975
|
SMART Domains |
Protein: ENSMUSP00000017975 Gene: ENSMUSG00000017831
Domain | Start | End | E-Value | Type |
RAB
|
21 |
184 |
4.91e-96 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056198
AA Change: T419S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000056682 Gene: ENSMUSG00000044957 AA Change: T419S
Domain | Start | End | E-Value | Type |
PP2Cc
|
173 |
609 |
4.04e-18 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aipl1 |
T |
C |
11: 71,921,028 (GRCm39) |
|
probably benign |
Het |
Akap11 |
T |
C |
14: 78,751,253 (GRCm39) |
D378G |
possibly damaging |
Het |
Ankrd33b |
A |
T |
15: 31,325,329 (GRCm39) |
F129L |
probably damaging |
Het |
Apob |
A |
G |
12: 8,065,222 (GRCm39) |
K4064E |
probably benign |
Het |
Arhgef10l |
T |
C |
4: 140,302,656 (GRCm39) |
D506G |
probably damaging |
Het |
Arid4b |
A |
C |
13: 14,327,997 (GRCm39) |
|
probably benign |
Het |
Ccdc88c |
A |
T |
12: 100,899,570 (GRCm39) |
Y1263N |
probably damaging |
Het |
Ckap5 |
T |
C |
2: 91,443,117 (GRCm39) |
L1697P |
possibly damaging |
Het |
Cplane1 |
T |
C |
15: 8,209,253 (GRCm39) |
F230S |
probably damaging |
Het |
Cpxm1 |
C |
T |
2: 130,235,601 (GRCm39) |
V464M |
probably damaging |
Het |
Dhrs7c |
A |
G |
11: 67,706,715 (GRCm39) |
E291G |
probably benign |
Het |
Dst |
C |
A |
1: 34,228,998 (GRCm39) |
P1872H |
possibly damaging |
Het |
G6pc2 |
G |
A |
2: 69,053,335 (GRCm39) |
A130T |
probably benign |
Het |
Gm4847 |
A |
G |
1: 166,462,578 (GRCm39) |
V304A |
probably damaging |
Het |
Gm8267 |
T |
C |
14: 44,955,374 (GRCm39) |
D155G |
possibly damaging |
Het |
Kank1 |
G |
A |
19: 25,388,066 (GRCm39) |
V580I |
probably benign |
Het |
Kcnh4 |
A |
G |
11: 100,636,649 (GRCm39) |
S757P |
probably damaging |
Het |
Krt34 |
C |
A |
11: 99,929,849 (GRCm39) |
A216S |
possibly damaging |
Het |
Mfhas1 |
A |
T |
8: 36,056,526 (GRCm39) |
I334F |
probably damaging |
Het |
Mrgprb8 |
A |
G |
7: 48,039,087 (GRCm39) |
M253V |
probably benign |
Het |
Or52n4b |
A |
T |
7: 108,144,137 (GRCm39) |
H133L |
probably benign |
Het |
Pprc1 |
T |
A |
19: 46,060,782 (GRCm39) |
|
probably benign |
Het |
Reln |
A |
G |
5: 22,184,014 (GRCm39) |
S1662P |
probably damaging |
Het |
Sema7a |
G |
A |
9: 57,862,423 (GRCm39) |
E209K |
possibly damaging |
Het |
Serinc2 |
C |
T |
4: 130,158,237 (GRCm39) |
W15* |
probably null |
Het |
Serpina3k |
A |
G |
12: 104,311,525 (GRCm39) |
T368A |
probably benign |
Het |
Setd3 |
A |
T |
12: 108,129,289 (GRCm39) |
W54R |
probably damaging |
Het |
Slc9c1 |
G |
A |
16: 45,419,833 (GRCm39) |
S1001N |
probably benign |
Het |
Snapc3 |
A |
G |
4: 83,336,213 (GRCm39) |
D75G |
probably benign |
Het |
Spata31e2 |
A |
G |
1: 26,724,104 (GRCm39) |
Y359H |
probably damaging |
Het |
Stard9 |
T |
C |
2: 120,532,820 (GRCm39) |
S333P |
probably benign |
Het |
Utrn |
T |
C |
10: 12,610,948 (GRCm39) |
D469G |
probably damaging |
Het |
|
Other mutations in Pp2d1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00949:Pp2d1
|
APN |
17 |
53,822,667 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01939:Pp2d1
|
APN |
17 |
53,822,167 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02039:Pp2d1
|
APN |
17 |
53,823,022 (GRCm39) |
nonsense |
probably null |
|
IGL02108:Pp2d1
|
APN |
17 |
53,822,433 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02121:Pp2d1
|
APN |
17 |
53,814,949 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03034:Pp2d1
|
APN |
17 |
53,815,081 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0483:Pp2d1
|
UTSW |
17 |
53,814,999 (GRCm39) |
missense |
probably benign |
0.29 |
R0562:Pp2d1
|
UTSW |
17 |
53,846,196 (GRCm39) |
splice site |
probably benign |
|
R1416:Pp2d1
|
UTSW |
17 |
53,822,835 (GRCm39) |
missense |
probably benign |
0.07 |
R1464:Pp2d1
|
UTSW |
17 |
53,823,015 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1464:Pp2d1
|
UTSW |
17 |
53,823,015 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1479:Pp2d1
|
UTSW |
17 |
53,814,883 (GRCm39) |
missense |
probably benign |
0.05 |
R1659:Pp2d1
|
UTSW |
17 |
53,822,406 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1711:Pp2d1
|
UTSW |
17 |
53,822,338 (GRCm39) |
missense |
possibly damaging |
0.47 |
R2214:Pp2d1
|
UTSW |
17 |
53,822,424 (GRCm39) |
missense |
probably benign |
0.01 |
R2217:Pp2d1
|
UTSW |
17 |
53,822,482 (GRCm39) |
missense |
probably benign |
0.02 |
R2218:Pp2d1
|
UTSW |
17 |
53,822,482 (GRCm39) |
missense |
probably benign |
0.02 |
R4463:Pp2d1
|
UTSW |
17 |
53,822,886 (GRCm39) |
missense |
probably benign |
|
R4644:Pp2d1
|
UTSW |
17 |
53,823,015 (GRCm39) |
missense |
probably benign |
0.00 |
R4901:Pp2d1
|
UTSW |
17 |
53,822,037 (GRCm39) |
missense |
probably benign |
0.20 |
R5164:Pp2d1
|
UTSW |
17 |
53,815,098 (GRCm39) |
missense |
probably benign |
0.11 |
R5169:Pp2d1
|
UTSW |
17 |
53,814,930 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5186:Pp2d1
|
UTSW |
17 |
53,815,168 (GRCm39) |
missense |
probably benign |
|
R5223:Pp2d1
|
UTSW |
17 |
53,814,873 (GRCm39) |
missense |
probably benign |
0.12 |
R6550:Pp2d1
|
UTSW |
17 |
53,822,604 (GRCm39) |
missense |
probably damaging |
0.98 |
R6918:Pp2d1
|
UTSW |
17 |
53,822,487 (GRCm39) |
missense |
probably damaging |
0.99 |
R7263:Pp2d1
|
UTSW |
17 |
53,822,358 (GRCm39) |
missense |
probably benign |
0.00 |
R7623:Pp2d1
|
UTSW |
17 |
53,822,907 (GRCm39) |
missense |
probably benign |
0.00 |
R7712:Pp2d1
|
UTSW |
17 |
53,815,318 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8062:Pp2d1
|
UTSW |
17 |
53,822,798 (GRCm39) |
missense |
probably benign |
0.01 |
R8165:Pp2d1
|
UTSW |
17 |
53,822,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R8694:Pp2d1
|
UTSW |
17 |
53,815,191 (GRCm39) |
missense |
probably benign |
0.01 |
R8815:Pp2d1
|
UTSW |
17 |
53,814,897 (GRCm39) |
missense |
probably benign |
0.41 |
R9704:Pp2d1
|
UTSW |
17 |
53,822,907 (GRCm39) |
missense |
probably benign |
0.00 |
X0019:Pp2d1
|
UTSW |
17 |
53,822,575 (GRCm39) |
missense |
probably benign |
0.19 |
|
Posted On |
2014-05-07 |