Incidental Mutation 'R1244:Ppp4c'
| ID |
152088 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp4c
|
| Ensembl Gene |
ENSMUSG00000030697 |
| Gene Name |
protein phosphatase 4, catalytic subunit |
| Synonyms |
1110002D08Rik, PPX |
| MMRRC Submission |
039311-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1244 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
126385038-126391668 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126385452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 119
(V119A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146202
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032936]
[ENSMUST00000094037]
[ENSMUST00000172352]
[ENSMUST00000205786]
[ENSMUST00000205935]
[ENSMUST00000206570]
[ENSMUST00000206353]
|
| AlphaFold |
P97470 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032936
AA Change: V269A
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000032936
Gene: ENSMUSG00000030697
AA Change: V269A
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Ac
|
20 |
290 |
4.04e-147 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094037
|
| SMART Domains |
Protein: ENSMUSP00000091579
Gene: ENSMUSG00000030699
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
75 |
N/A |
INTRINSIC |
|
TBOX
|
90 |
278 |
1.79e-128 |
SMART |
|
low complexity region
|
332 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
414 |
428 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172352
|
| SMART Domains |
Protein: ENSMUSP00000126418
Gene: ENSMUSG00000030699
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
75 |
N/A |
INTRINSIC |
|
TBOX
|
90 |
278 |
1.79e-128 |
SMART |
|
low complexity region
|
333 |
349 |
N/A |
INTRINSIC |
|
low complexity region
|
415 |
429 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205786
AA Change: V119A
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205862
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205879
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205935
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206570
AA Change: V269A
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206334
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205950
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206261
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206353
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206477
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Embryonic Ppp4c-deficiency leads to early embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
C |
T |
12: 71,262,918 (GRCm39) |
T1417I |
probably benign |
Het |
| Abca14 |
G |
A |
7: 119,815,561 (GRCm39) |
A270T |
probably benign |
Het |
| Abtb3 |
C |
A |
10: 85,223,227 (GRCm39) |
T12K |
unknown |
Het |
| Ash2l |
T |
C |
8: 26,307,449 (GRCm39) |
S529G |
probably damaging |
Het |
| Atp13a3 |
T |
C |
16: 30,180,654 (GRCm39) |
Y125C |
probably benign |
Het |
| Calca |
A |
G |
7: 114,232,962 (GRCm39) |
Y96H |
probably damaging |
Het |
| Cct4 |
A |
G |
11: 22,946,417 (GRCm39) |
E131G |
probably benign |
Het |
| Cd84 |
A |
G |
1: 171,679,397 (GRCm39) |
D25G |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,749,557 (GRCm39) |
D1728G |
probably damaging |
Het |
| Cyp39a1 |
A |
T |
17: 44,060,836 (GRCm39) |
K461N |
probably benign |
Het |
| Ddx50 |
T |
A |
10: 62,478,703 (GRCm39) |
Q161L |
probably damaging |
Het |
| Golga5 |
A |
G |
12: 102,438,554 (GRCm39) |
T90A |
probably benign |
Het |
| Heatr3 |
A |
G |
8: 88,868,367 (GRCm39) |
E39G |
possibly damaging |
Het |
| Hipk3 |
G |
A |
2: 104,263,601 (GRCm39) |
R905W |
probably damaging |
Het |
| Hsd11b1 |
T |
G |
1: 192,906,068 (GRCm39) |
M175L |
probably benign |
Het |
| Htra1 |
G |
A |
7: 130,586,799 (GRCm39) |
V461I |
possibly damaging |
Het |
| Il10 |
A |
G |
1: 130,951,953 (GRCm39) |
D162G |
probably damaging |
Het |
| Mapre2 |
A |
G |
18: 23,986,774 (GRCm39) |
K62R |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Ogfod1 |
A |
G |
8: 94,763,999 (GRCm39) |
D28G |
probably benign |
Het |
| Or5an10 |
A |
T |
19: 12,275,860 (GRCm39) |
I212N |
probably damaging |
Het |
| Perm1 |
C |
T |
4: 156,302,340 (GRCm39) |
R295C |
probably benign |
Het |
| Scn2a |
T |
C |
2: 65,593,999 (GRCm39) |
I1616T |
probably damaging |
Het |
| Sipa1l1 |
A |
G |
12: 82,472,190 (GRCm39) |
N1390S |
probably benign |
Het |
| Sub1 |
A |
T |
15: 11,991,130 (GRCm39) |
V37E |
possibly damaging |
Het |
| Tbc1d17 |
A |
T |
7: 44,493,822 (GRCm39) |
V267E |
probably damaging |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Vmn1r77 |
A |
T |
7: 11,775,847 (GRCm39) |
T140S |
possibly damaging |
Het |
| Vmn2r15 |
A |
T |
5: 109,441,092 (GRCm39) |
Y255* |
probably null |
Het |
|
| Other mutations in Ppp4c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0030:Ppp4c
|
UTSW |
7 |
126,387,605 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0601:Ppp4c
|
UTSW |
7 |
126,386,460 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0602:Ppp4c
|
UTSW |
7 |
126,388,254 (GRCm39) |
splice site |
probably benign |
|
|
R1187:Ppp4c
|
UTSW |
7 |
126,385,372 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1346:Ppp4c
|
UTSW |
7 |
126,391,222 (GRCm39) |
splice site |
probably benign |
|
|
R1878:Ppp4c
|
UTSW |
7 |
126,386,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1892:Ppp4c
|
UTSW |
7 |
126,385,452 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2072:Ppp4c
|
UTSW |
7 |
126,386,520 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2313:Ppp4c
|
UTSW |
7 |
126,386,629 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2863:Ppp4c
|
UTSW |
7 |
126,391,272 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2865:Ppp4c
|
UTSW |
7 |
126,391,272 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3808:Ppp4c
|
UTSW |
7 |
126,386,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3809:Ppp4c
|
UTSW |
7 |
126,386,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4290:Ppp4c
|
UTSW |
7 |
126,391,231 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4504:Ppp4c
|
UTSW |
7 |
126,386,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5001:Ppp4c
|
UTSW |
7 |
126,386,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7194:Ppp4c
|
UTSW |
7 |
126,385,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7490:Ppp4c
|
UTSW |
7 |
126,386,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8121:Ppp4c
|
UTSW |
7 |
126,386,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8886:Ppp4c
|
UTSW |
7 |
126,386,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9123:Ppp4c
|
UTSW |
7 |
126,386,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9125:Ppp4c
|
UTSW |
7 |
126,386,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9155:Ppp4c
|
UTSW |
7 |
126,386,419 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAAGCAGAGCAGGTCTCCATGTC -3'
(R):5'- CGTGCCCACCAATTAGTGATGGAAG -3'
Sequencing Primer
(F):5'- TCTCCAGAGCAAGTCCGC -3'
(R):5'- AGGCTACAAGTGGCACTTC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation