Incidental Mutation 'R2218:Pp2d1'
| ID |
241292 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pp2d1
|
| Ensembl Gene |
ENSMUSG00000044957 |
| Gene Name |
protein phosphatase 2C-like domain containing 1 |
| Synonyms |
4921523A10Rik |
| MMRRC Submission |
040220-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R2218 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
53814488-53846479 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 53822482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 195
(V195L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056682
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056198]
|
| AlphaFold |
Q8BVT6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056198
AA Change: V195L
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000056682
Gene: ENSMUSG00000044957
AA Change: V195L
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Cc
|
173 |
609 |
4.04e-18 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abitram |
G |
T |
4: 56,802,693 (GRCm39) |
V26L |
probably damaging |
Het |
| Acap3 |
A |
G |
4: 155,988,319 (GRCm39) |
|
probably null |
Het |
| Appl2 |
G |
T |
10: 83,444,601 (GRCm39) |
F472L |
possibly damaging |
Het |
| Atp13a5 |
A |
T |
16: 29,140,464 (GRCm39) |
V319D |
probably damaging |
Het |
| Atxn2 |
T |
C |
5: 121,941,140 (GRCm39) |
Y56H |
probably damaging |
Het |
| Brinp1 |
A |
G |
4: 68,680,952 (GRCm39) |
L526P |
probably damaging |
Het |
| Cacna1d |
C |
T |
14: 29,845,048 (GRCm39) |
D679N |
probably damaging |
Het |
| Canx |
C |
T |
11: 50,201,694 (GRCm39) |
V59I |
probably benign |
Het |
| Drd2 |
T |
C |
9: 49,311,094 (GRCm39) |
V115A |
probably damaging |
Het |
| Eml6 |
T |
A |
11: 29,768,907 (GRCm39) |
Q746L |
probably damaging |
Het |
| F13b |
G |
T |
1: 139,434,582 (GRCm39) |
S116I |
probably benign |
Het |
| Flt4 |
T |
A |
11: 49,515,555 (GRCm39) |
S48T |
probably benign |
Het |
| Gcn1 |
C |
A |
5: 115,757,720 (GRCm39) |
S2475Y |
probably benign |
Het |
| Gls2 |
T |
C |
10: 128,040,583 (GRCm39) |
L328P |
probably damaging |
Het |
| Gm7535 |
A |
G |
17: 18,131,936 (GRCm39) |
|
probably benign |
Het |
| Htr3a |
T |
C |
9: 48,819,911 (GRCm39) |
Y73C |
probably damaging |
Het |
| Iapp |
G |
A |
6: 142,249,096 (GRCm39) |
A50T |
probably benign |
Het |
| Il10ra |
T |
C |
9: 45,176,914 (GRCm39) |
D137G |
probably benign |
Het |
| Krt35 |
T |
C |
11: 99,986,988 (GRCm39) |
S9G |
probably null |
Het |
| Lamc2 |
T |
A |
1: 153,006,525 (GRCm39) |
R875S |
probably benign |
Het |
| Mcoln1 |
C |
A |
8: 3,555,813 (GRCm39) |
T36K |
possibly damaging |
Het |
| Muc6 |
T |
C |
7: 141,233,227 (GRCm39) |
H885R |
probably benign |
Het |
| Nsrp1 |
A |
T |
11: 76,936,587 (GRCm39) |
Y536* |
probably null |
Het |
| Or10al4 |
A |
T |
17: 38,037,145 (GRCm39) |
I77F |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,633,511 (GRCm39) |
|
probably null |
Het |
| Rag1 |
T |
C |
2: 101,474,491 (GRCm39) |
H217R |
probably benign |
Het |
| Ramp2 |
A |
G |
11: 101,138,457 (GRCm39) |
E86G |
probably benign |
Het |
| Rcbtb2 |
T |
C |
14: 73,416,005 (GRCm39) |
|
probably null |
Het |
| Sema5a |
A |
T |
15: 32,631,455 (GRCm39) |
I613F |
probably damaging |
Het |
| Sgk1 |
C |
T |
10: 21,872,500 (GRCm39) |
R171W |
probably damaging |
Het |
| Slc39a11 |
C |
A |
11: 113,450,376 (GRCm39) |
|
probably null |
Het |
| Slc47a2 |
T |
C |
11: 61,204,497 (GRCm39) |
T285A |
probably benign |
Het |
| Timd2 |
T |
A |
11: 46,577,844 (GRCm39) |
I96L |
probably damaging |
Het |
| Tkt |
G |
T |
14: 30,289,018 (GRCm39) |
|
probably null |
Het |
| Tle1 |
A |
T |
4: 72,117,556 (GRCm39) |
F35I |
possibly damaging |
Het |
| Tmem64 |
T |
C |
4: 15,266,658 (GRCm39) |
I236T |
possibly damaging |
Het |
| Ttll13 |
A |
G |
7: 79,902,250 (GRCm39) |
K109R |
probably damaging |
Het |
| Virma |
T |
C |
4: 11,544,924 (GRCm39) |
S1628P |
probably damaging |
Het |
| Zan |
C |
A |
5: 137,408,568 (GRCm39) |
|
probably benign |
Het |
| Zbtb22 |
T |
G |
17: 34,136,939 (GRCm39) |
D361E |
probably damaging |
Het |
| Zfp608 |
T |
C |
18: 55,120,756 (GRCm39) |
N277S |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATGAGTTGCTTCTGCTCAGC -3'
(R):5'- AACTGGTCAGTCTTCATAGAGAGTG -3'
Sequencing Primer
(F):5'- CAGCTGTCATTTGGTAGGAAGGATC -3'
(R):5'- TGTGAACTACGCATTTGAGTTTC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation