Incidental Mutation 'R6550:Pp2d1'
ID |
521552 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pp2d1
|
Ensembl Gene |
ENSMUSG00000044957 |
Gene Name |
protein phosphatase 2C-like domain containing 1 |
Synonyms |
4921523A10Rik |
MMRRC Submission |
044675-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R6550 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
53814488-53846479 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 53822604 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 154
(D154G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056682
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056198]
|
AlphaFold |
Q8BVT6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056198
AA Change: D154G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000056682 Gene: ENSMUSG00000044957 AA Change: D154G
Domain | Start | End | E-Value | Type |
PP2Cc
|
173 |
609 |
4.04e-18 |
SMART |
|
Meta Mutation Damage Score |
0.5330 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
98% (39/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apbb1ip |
A |
G |
2: 22,748,245 (GRCm39) |
D355G |
probably damaging |
Het |
Asz1 |
T |
C |
6: 18,051,380 (GRCm39) |
D433G |
probably damaging |
Het |
Atl3 |
A |
G |
19: 7,499,503 (GRCm39) |
T256A |
probably benign |
Het |
Atp8b4 |
T |
A |
2: 126,266,113 (GRCm39) |
T183S |
probably damaging |
Het |
Bahcc1 |
C |
T |
11: 120,167,477 (GRCm39) |
H1293Y |
possibly damaging |
Het |
Bin2 |
A |
G |
15: 100,543,358 (GRCm39) |
V243A |
probably benign |
Het |
Camta1 |
A |
C |
4: 151,222,832 (GRCm39) |
F908L |
probably damaging |
Het |
Cbx2 |
T |
C |
11: 118,919,851 (GRCm39) |
V472A |
possibly damaging |
Het |
Cd22 |
T |
C |
7: 30,576,977 (GRCm39) |
D110G |
probably benign |
Het |
Cfap69 |
A |
T |
5: 5,631,220 (GRCm39) |
D764E |
probably benign |
Het |
Col2a1 |
A |
G |
15: 97,874,674 (GRCm39) |
I1321T |
unknown |
Het |
Cyp2c67 |
G |
T |
19: 39,605,854 (GRCm39) |
Y347* |
probably null |
Het |
D630044L22Rik |
A |
T |
17: 26,180,628 (GRCm39) |
R66S |
possibly damaging |
Het |
Defa27 |
A |
C |
8: 21,806,340 (GRCm39) |
R46S |
possibly damaging |
Het |
E330034G19Rik |
A |
G |
14: 24,346,886 (GRCm39) |
M58V |
probably benign |
Het |
Efhb |
G |
T |
17: 53,728,968 (GRCm39) |
H574N |
probably benign |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Erlin1 |
A |
T |
19: 44,025,602 (GRCm39) |
|
probably null |
Het |
Gm10912 |
C |
T |
2: 103,896,996 (GRCm39) |
T45I |
possibly damaging |
Het |
Hsh2d |
C |
A |
8: 72,952,297 (GRCm39) |
T156K |
probably benign |
Het |
Lrrc49 |
G |
T |
9: 60,584,430 (GRCm39) |
Q139K |
probably benign |
Het |
Map3k21 |
A |
G |
8: 126,664,031 (GRCm39) |
S531G |
probably damaging |
Het |
Mcm2 |
A |
G |
6: 88,863,941 (GRCm39) |
|
probably null |
Het |
Mtarc2 |
C |
A |
1: 184,551,539 (GRCm39) |
R299L |
probably damaging |
Het |
Myo9a |
T |
C |
9: 59,775,482 (GRCm39) |
F1031S |
probably damaging |
Het |
Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
Or2n1d |
C |
T |
17: 38,646,896 (GRCm39) |
P283S |
possibly damaging |
Het |
Pmfbp1 |
T |
C |
8: 110,246,839 (GRCm39) |
V237A |
possibly damaging |
Het |
Polrmt |
C |
A |
10: 79,575,514 (GRCm39) |
Q672H |
probably damaging |
Het |
Rars1 |
T |
C |
11: 35,724,010 (GRCm39) |
I57V |
probably benign |
Het |
Selplg |
G |
A |
5: 113,958,210 (GRCm39) |
P32L |
probably benign |
Het |
Slc8b1 |
A |
G |
5: 120,662,082 (GRCm39) |
E257G |
probably damaging |
Het |
Spata31e3 |
G |
A |
13: 50,399,482 (GRCm39) |
P948L |
probably benign |
Het |
Tasor2 |
A |
G |
13: 3,640,519 (GRCm39) |
V206A |
possibly damaging |
Het |
Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
Tmem87b |
T |
A |
2: 128,666,385 (GRCm39) |
H77Q |
possibly damaging |
Het |
Tpr |
C |
T |
1: 150,299,728 (GRCm39) |
L1200F |
probably damaging |
Het |
Trir |
G |
T |
8: 85,756,549 (GRCm39) |
V154L |
probably damaging |
Het |
Wdfy3 |
A |
G |
5: 102,101,032 (GRCm39) |
V195A |
probably benign |
Het |
Zdhhc5 |
T |
C |
2: 84,526,685 (GRCm39) |
I96V |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTTGATGCCAGGTCTGCTG -3'
(R):5'- CACAATGCTCTGAGTATGCTG -3'
Sequencing Primer
(F):5'- TGCTGCATAACCGTAATGGC -3'
(R):5'- CAATGCTCTGAGTATGCTGGGTTTC -3'
|
Posted On |
2018-06-06 |