Incidental Mutation 'R0030:Ppp4c'
| ID |
64522 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp4c
|
| Ensembl Gene |
ENSMUSG00000030697 |
| Gene Name |
protein phosphatase 4, catalytic subunit |
| Synonyms |
1110002D08Rik, PPX |
| MMRRC Submission |
038324-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0030 (G1)
|
| Quality Score |
146 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
126385038-126391668 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126387605 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 51
(V51A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146245
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032936]
[ENSMUST00000094037]
[ENSMUST00000172352]
[ENSMUST00000205786]
[ENSMUST00000205935]
[ENSMUST00000206353]
[ENSMUST00000206570]
|
| AlphaFold |
P97470 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032936
AA Change: V51A
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000032936
Gene: ENSMUSG00000030697
AA Change: V51A
| 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 benign
Transcript: ENSMUST00000205786
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205862
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205879
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205935
AA Change: Y34H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206353
AA Change: V8A
PolyPhen 2
Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206570
AA Change: V51A
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205950
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206334
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206261
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206477
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.6%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
T |
A |
1: 89,816,466 (GRCm39) |
Y755* |
probably null |
Het |
| Ahctf1 |
G |
A |
1: 179,580,001 (GRCm39) |
T2067M |
probably damaging |
Het |
| Ank1 |
C |
A |
8: 23,583,909 (GRCm39) |
D337E |
probably damaging |
Het |
| Ankrd65 |
A |
C |
4: 155,875,942 (GRCm39) |
R72S |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,022,727 (GRCm39) |
|
probably null |
Het |
| Cyp4f40 |
T |
C |
17: 32,894,947 (GRCm39) |
S462P |
probably damaging |
Het |
| Dxo |
A |
G |
17: 35,056,914 (GRCm39) |
R132G |
probably damaging |
Het |
| Eps15l1 |
A |
G |
8: 73,126,894 (GRCm39) |
S646P |
probably benign |
Het |
| Foxi2 |
A |
G |
7: 135,013,345 (GRCm39) |
T192A |
probably damaging |
Het |
| Fry |
T |
A |
5: 150,296,034 (GRCm39) |
C480* |
probably null |
Het |
| Gak |
C |
T |
5: 108,761,413 (GRCm39) |
W206* |
probably null |
Het |
| Ggt7 |
G |
T |
2: 155,348,408 (GRCm39) |
D5E |
probably benign |
Het |
| Hectd4 |
G |
T |
5: 121,400,651 (GRCm39) |
G339* |
probably null |
Het |
| Ikzf3 |
T |
C |
11: 98,358,438 (GRCm39) |
T300A |
probably benign |
Het |
| Med12l |
T |
G |
3: 59,156,076 (GRCm39) |
L1198R |
probably damaging |
Het |
| Odf4 |
T |
A |
11: 68,817,767 (GRCm39) |
E9D |
probably benign |
Het |
| Or2t26 |
T |
A |
11: 49,039,867 (GRCm39) |
M261K |
possibly damaging |
Het |
| Pax1 |
C |
A |
2: 147,210,502 (GRCm39) |
F412L |
probably damaging |
Het |
| Polg |
A |
T |
7: 79,101,876 (GRCm39) |
I1006N |
probably damaging |
Het |
| Scn10a |
G |
C |
9: 119,499,056 (GRCm39) |
T304R |
probably benign |
Het |
| Scp2 |
T |
A |
4: 107,964,887 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
G |
T |
4: 139,154,104 (GRCm39) |
V2104L |
probably damaging |
Het |
|
| Other mutations in Ppp4c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R1244:Ppp4c
|
UTSW |
7 |
126,385,452 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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'- TGTAGAAACCACGGTCCACAAAGTC -3'
(R):5'- AGTCAGTCCTATGAAGCTGGGAGTC -3'
Sequencing Primer
(F):5'- AGTCTCCCATGAAGAGGTAGTTG -3'
(R):5'- GGGAGTCTCCCAGGAAACAC -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation