Incidental Mutation 'IGL03034:Pp2d1'
ID |
408565 |
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 # |
IGL03034
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
53814488-53846479 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 53815081 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 548
(T548A)
|
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 |
possibly damaging
Transcript: ENSMUST00000056198
AA Change: T548A
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000056682 Gene: ENSMUSG00000044957 AA Change: T548A
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5530401A14Rik |
C |
T |
11: 81,780,908 (GRCm39) |
|
probably benign |
Het |
Ablim2 |
A |
G |
5: 35,985,509 (GRCm39) |
T269A |
probably benign |
Het |
Asgr2 |
G |
T |
11: 69,989,089 (GRCm39) |
G178W |
probably damaging |
Het |
Chtf18 |
A |
G |
17: 25,946,320 (GRCm39) |
|
probably benign |
Het |
Cnmd |
C |
T |
14: 79,879,368 (GRCm39) |
A257T |
probably benign |
Het |
Cox7a1 |
A |
G |
7: 29,884,693 (GRCm39) |
|
probably benign |
Het |
Cpox |
C |
T |
16: 58,495,718 (GRCm39) |
T345M |
probably damaging |
Het |
Crisp1 |
T |
C |
17: 40,618,619 (GRCm39) |
T81A |
probably benign |
Het |
Dcc |
T |
A |
18: 71,708,214 (GRCm39) |
R501* |
probably null |
Het |
Dlx6 |
A |
C |
6: 6,863,807 (GRCm39) |
Q143P |
probably benign |
Het |
Dpp10 |
T |
A |
1: 123,269,348 (GRCm39) |
Y687F |
probably damaging |
Het |
Eif2b1 |
A |
G |
5: 124,709,894 (GRCm39) |
V228A |
probably benign |
Het |
Enpep |
T |
C |
3: 129,092,599 (GRCm39) |
D528G |
probably damaging |
Het |
Fbxo6 |
G |
A |
4: 148,230,579 (GRCm39) |
Q228* |
probably null |
Het |
Iars1 |
T |
A |
13: 49,843,965 (GRCm39) |
N146K |
possibly damaging |
Het |
Kctd9 |
T |
A |
14: 67,971,728 (GRCm39) |
S268T |
probably benign |
Het |
Kifap3 |
G |
A |
1: 163,715,846 (GRCm39) |
V749M |
probably benign |
Het |
Mdm4 |
T |
C |
1: 132,938,809 (GRCm39) |
D94G |
probably damaging |
Het |
Mllt10 |
T |
G |
2: 18,069,847 (GRCm39) |
M1R |
probably null |
Het |
Mtcl1 |
T |
C |
17: 66,651,193 (GRCm39) |
Y1424C |
probably damaging |
Het |
Mybpc2 |
A |
T |
7: 44,161,321 (GRCm39) |
I549N |
possibly damaging |
Het |
Myocd |
T |
C |
11: 65,109,511 (GRCm39) |
T87A |
probably benign |
Het |
Nr3c2 |
T |
G |
8: 77,914,267 (GRCm39) |
Y824* |
probably null |
Het |
Omg |
T |
A |
11: 79,392,947 (GRCm39) |
T304S |
possibly damaging |
Het |
Or4b1 |
A |
G |
2: 89,980,177 (GRCm39) |
Y58H |
probably damaging |
Het |
Or52p2 |
G |
A |
7: 102,237,147 (GRCm39) |
H268Y |
probably benign |
Het |
Or5an1b |
T |
C |
19: 12,300,018 (GRCm39) |
T58A |
possibly damaging |
Het |
Or5b97 |
T |
C |
19: 12,879,121 (GRCm39) |
T8A |
possibly damaging |
Het |
Or6c2 |
A |
T |
10: 129,362,527 (GRCm39) |
I144F |
probably benign |
Het |
Pde3a |
G |
A |
6: 141,438,126 (GRCm39) |
|
probably benign |
Het |
Phf20l1 |
A |
G |
15: 66,469,252 (GRCm39) |
K129E |
probably damaging |
Het |
Phka2 |
G |
T |
X: 159,360,546 (GRCm39) |
E858* |
probably null |
Het |
Prr14l |
G |
A |
5: 32,984,782 (GRCm39) |
A1571V |
possibly damaging |
Het |
Rbms3 |
A |
G |
9: 117,080,879 (GRCm39) |
|
probably benign |
Het |
Sparcl1 |
T |
C |
5: 104,241,103 (GRCm39) |
E107G |
probably damaging |
Het |
Stra6l |
A |
G |
4: 45,885,392 (GRCm39) |
D620G |
probably benign |
Het |
Traf3ip2 |
A |
T |
10: 39,502,215 (GRCm39) |
K121I |
probably damaging |
Het |
Ttc34 |
T |
C |
4: 154,945,640 (GRCm39) |
S734P |
probably damaging |
Het |
Zfp953 |
C |
T |
13: 67,491,526 (GRCm39) |
C142Y |
probably damaging |
Het |
Zfp955b |
T |
A |
17: 33,521,142 (GRCm39) |
C204S |
probably benign |
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 |
IGL02031:Pp2d1
|
APN |
17 |
53,815,468 (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 |
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 |
2016-08-02 |