Incidental Mutation 'R4644:Pp2d1'
| ID |
351792 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pp2d1
|
| Ensembl Gene |
ENSMUSG00000044957 |
| Gene Name |
protein phosphatase 2C-like domain containing 1 |
| Synonyms |
4921523A10Rik |
| MMRRC Submission |
041905-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R4644 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
53814488-53846479 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53823015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 17
(K17R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056682
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056198]
|
| AlphaFold |
Q8BVT6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056198
AA Change: K17R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000056682
Gene: ENSMUSG00000044957
AA Change: K17R
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Cc
|
173 |
609 |
4.04e-18 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
T |
G |
1: 165,378,930 (GRCm39) |
|
probably null |
Het |
| Ano5 |
C |
A |
7: 51,237,433 (GRCm39) |
Y702* |
probably null |
Het |
| Bsph2 |
A |
T |
7: 13,304,942 (GRCm39) |
V11E |
possibly damaging |
Het |
| Camk1g |
T |
A |
1: 193,038,667 (GRCm39) |
D85V |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
| Cflar |
T |
A |
1: 58,770,426 (GRCm39) |
I173N |
probably damaging |
Het |
| Dgkd |
T |
C |
1: 87,864,016 (GRCm39) |
V904A |
probably damaging |
Het |
| Dnajc21 |
T |
C |
15: 10,464,003 (GRCm39) |
D54G |
possibly damaging |
Het |
| Doc2a |
C |
A |
7: 126,450,618 (GRCm39) |
T298K |
probably benign |
Het |
| Dsg1a |
A |
T |
18: 20,473,785 (GRCm39) |
I953L |
probably benign |
Het |
| Fga |
C |
A |
3: 82,937,573 (GRCm39) |
A150E |
possibly damaging |
Het |
| Frem3 |
T |
A |
8: 81,340,356 (GRCm39) |
M883K |
probably benign |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Klhdc4 |
G |
C |
8: 122,548,739 (GRCm39) |
|
probably benign |
Het |
| Mgst1 |
T |
C |
6: 138,133,368 (GRCm39) |
Y50H |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nsmaf |
A |
G |
4: 6,419,940 (GRCm39) |
|
probably benign |
Het |
| Prss39 |
C |
T |
1: 34,541,207 (GRCm39) |
T237M |
probably damaging |
Het |
| Ptpra |
T |
C |
2: 130,386,078 (GRCm39) |
I595T |
probably damaging |
Het |
| Ptpre |
C |
T |
7: 135,253,661 (GRCm39) |
|
probably benign |
Het |
| Rictor |
C |
A |
15: 6,807,416 (GRCm39) |
C728* |
probably null |
Het |
| Scn11a |
C |
T |
9: 119,644,269 (GRCm39) |
|
probably null |
Het |
| Scn1b |
A |
T |
7: 30,817,212 (GRCm39) |
L170* |
probably null |
Het |
| Semp2l2b |
A |
G |
10: 21,942,660 (GRCm39) |
V440A |
probably benign |
Het |
| Slc35f3 |
A |
G |
8: 127,047,809 (GRCm39) |
R50G |
possibly damaging |
Het |
| Sorcs3 |
G |
A |
19: 48,672,036 (GRCm39) |
V412M |
probably damaging |
Het |
| Spg11 |
C |
T |
2: 121,891,510 (GRCm39) |
V1954I |
probably benign |
Het |
| Srcap |
C |
T |
7: 127,151,770 (GRCm39) |
R2049C |
probably damaging |
Het |
| Ssh2 |
T |
C |
11: 77,340,402 (GRCm39) |
V518A |
possibly damaging |
Het |
| Stab1 |
G |
A |
14: 30,862,444 (GRCm39) |
|
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,937,963 (GRCm39) |
F1570S |
probably benign |
Het |
| Tpr |
T |
A |
1: 150,299,250 (GRCm39) |
V1076E |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,562,757 (GRCm39) |
Y26986* |
probably null |
Het |
| Unc45a |
C |
T |
7: 79,978,257 (GRCm39) |
A673T |
probably damaging |
Het |
| Utp25 |
A |
G |
1: 192,810,788 (GRCm39) |
Y72H |
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 |
|
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 |
|
|
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'- TTCTCGGTAGCAGACAGAGC -3'
(R):5'- GGGGCTTTATAAAACTCAACTGTAGG -3'
Sequencing Primer
(F):5'- CAGGGGAATGTGACCATGTC -3'
(R):5'- CTGTGCAAAGAGAGTGTACTATTTC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation