Incidental Mutation 'R1187:Ppp4c'
ID |
102261 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp4c
|
Ensembl Gene |
ENSMUSG00000030697 |
Gene Name |
protein phosphatase 4, catalytic subunit |
Synonyms |
1110002D08Rik, PPX |
MMRRC Submission |
039259-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1187 (G1)
|
Quality Score |
211 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
126385038-126391668 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 126385372 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 296
(I296F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146245
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032936]
[ENSMUST00000094037]
[ENSMUST00000172352]
[ENSMUST00000205786]
[ENSMUST00000206570]
[ENSMUST00000205935]
[ENSMUST00000206353]
|
AlphaFold |
P97470 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032936
AA Change: I296F
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000032936 Gene: ENSMUSG00000030697 AA Change: I296F
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
AA Change: I146F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205862
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205879
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206570
AA Change: I296F
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206477
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205950
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206334
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205935
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206353
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206261
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 89.2%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
G |
T |
11: 9,478,981 (GRCm39) |
M4276I |
probably benign |
Het |
Apol7b |
A |
T |
15: 77,307,603 (GRCm39) |
F297L |
possibly damaging |
Het |
Capsl |
C |
T |
15: 9,457,807 (GRCm39) |
R9W |
probably damaging |
Het |
Catsperb |
T |
C |
12: 101,591,991 (GRCm39) |
V1107A |
probably benign |
Het |
Cip2a |
T |
A |
16: 48,820,656 (GRCm39) |
N132K |
probably damaging |
Het |
Clca3a1 |
T |
C |
3: 144,715,504 (GRCm39) |
I544M |
probably benign |
Het |
Cma2 |
T |
C |
14: 56,210,280 (GRCm39) |
V55A |
probably benign |
Het |
Col10a1 |
A |
T |
10: 34,270,834 (GRCm39) |
I269F |
probably benign |
Het |
Col26a1 |
G |
A |
5: 136,773,020 (GRCm39) |
H385Y |
probably damaging |
Het |
Ctdp1 |
A |
G |
18: 80,492,702 (GRCm39) |
Y598H |
probably damaging |
Het |
Dnajc1 |
A |
G |
2: 18,289,520 (GRCm39) |
S296P |
probably benign |
Het |
Dvl2 |
A |
T |
11: 69,896,962 (GRCm39) |
T250S |
probably benign |
Het |
Etv1 |
A |
G |
12: 38,915,563 (GRCm39) |
Y410C |
probably damaging |
Het |
Krcc1 |
A |
T |
6: 71,261,612 (GRCm39) |
K215* |
probably null |
Het |
Lrr1 |
A |
T |
12: 69,221,796 (GRCm39) |
T313S |
probably benign |
Het |
Lrrc7 |
T |
A |
3: 157,866,039 (GRCm39) |
E1234V |
probably damaging |
Het |
Mepe |
G |
A |
5: 104,486,114 (GRCm39) |
R418H |
probably damaging |
Het |
Myrfl |
G |
A |
10: 116,667,447 (GRCm39) |
T331I |
probably damaging |
Het |
Nbeal1 |
T |
C |
1: 60,233,687 (GRCm39) |
W26R |
probably damaging |
Het |
Nsrp1 |
G |
A |
11: 76,936,853 (GRCm39) |
P448S |
probably benign |
Het |
Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
Olfml2a |
A |
G |
2: 38,849,825 (GRCm39) |
N514D |
probably damaging |
Het |
Or2l5 |
T |
C |
16: 19,333,796 (GRCm39) |
T197A |
probably benign |
Het |
Or2y17 |
T |
G |
11: 49,231,417 (GRCm39) |
D19E |
probably damaging |
Het |
Pcdhb1 |
C |
T |
18: 37,398,597 (GRCm39) |
R183C |
probably damaging |
Het |
Phf14 |
T |
G |
6: 11,941,495 (GRCm39) |
C41G |
probably damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,361,447 (GRCm39) |
V499A |
possibly damaging |
Het |
Plcb4 |
A |
G |
2: 135,810,314 (GRCm39) |
I638V |
probably benign |
Het |
Prkdc |
T |
C |
16: 15,577,610 (GRCm39) |
V2388A |
probably damaging |
Het |
Rgl1 |
T |
C |
1: 152,420,184 (GRCm39) |
D353G |
probably benign |
Het |
Rnf19b |
T |
G |
4: 128,969,360 (GRCm39) |
|
probably null |
Het |
Ryr3 |
C |
T |
2: 112,788,521 (GRCm39) |
D190N |
probably damaging |
Het |
Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
Sema3e |
G |
A |
5: 14,282,098 (GRCm39) |
M411I |
probably damaging |
Het |
Sgsh |
A |
T |
11: 119,237,404 (GRCm39) |
Y403* |
probably null |
Het |
Sh2d7 |
T |
A |
9: 54,448,471 (GRCm39) |
L164Q |
probably benign |
Het |
Slfn8 |
A |
T |
11: 82,894,314 (GRCm39) |
V775E |
probably damaging |
Het |
Smgc |
G |
A |
15: 91,744,798 (GRCm39) |
G287S |
probably damaging |
Het |
Soat1 |
T |
A |
1: 156,261,745 (GRCm39) |
Y421F |
probably damaging |
Het |
Sri |
T |
C |
5: 8,109,416 (GRCm39) |
Y52H |
probably damaging |
Het |
Stat4 |
C |
A |
1: 52,115,836 (GRCm39) |
Q259K |
probably damaging |
Het |
Trpm5 |
A |
G |
7: 142,628,206 (GRCm39) |
L1023P |
probably damaging |
Het |
Ush1c |
T |
A |
7: 45,858,338 (GRCm39) |
N650I |
probably benign |
Het |
Vmn2r8 |
G |
T |
5: 108,951,085 (GRCm39) |
S120* |
probably null |
Het |
Zbed6 |
G |
A |
1: 133,586,941 (GRCm39) |
T132I |
probably damaging |
Het |
Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
Zfp629 |
A |
G |
7: 127,209,401 (GRCm39) |
S803P |
probably benign |
Het |
Zfp629 |
T |
C |
7: 127,211,059 (GRCm39) |
K250R |
probably damaging |
Het |
Zfp758 |
T |
A |
17: 22,594,171 (GRCm39) |
I187N |
probably benign |
Het |
Zfp85 |
T |
A |
13: 67,897,835 (GRCm39) |
K79I |
probably damaging |
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 |
|
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'- ACAAGCAGAGCAGGTCTCCATGTC -3'
(R):5'- CGTGCCCACCAATTAGTGATGGAAG -3'
Sequencing Primer
(F):5'- CCTGACAGAACCTAAGTCTATTTTTC -3'
(R):5'- TCAATGAGACCGTGCTTACTG -3'
|
Posted On |
2014-01-15 |