Incidental Mutation 'IGL02672:Ppp4r1'
| ID |
302975 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppp4r1
|
| Ensembl Gene |
ENSMUSG00000061950 |
| Gene Name |
protein phosphatase 4, regulatory subunit 1 |
| Synonyms |
3110001J10Rik, Pp4r1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02672
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
66089568-66148921 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66147942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 928
(Y928C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072848
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073104]
[ENSMUST00000160664]
[ENSMUST00000162109]
[ENSMUST00000162703]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073104
AA Change: Y928C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000072848
Gene: ENSMUSG00000061950
AA Change: Y928C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
152 |
163 |
N/A |
INTRINSIC |
|
Pfam:HEAT
|
213 |
244 |
2e-5 |
PFAM |
|
Pfam:HEAT
|
253 |
280 |
2.7e-6 |
PFAM |
|
low complexity region
|
531 |
540 |
N/A |
INTRINSIC |
|
PDB:3FGA|A
|
664 |
930 |
3e-6 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000097293
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160664
AA Change: Y911C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124690
Gene: ENSMUSG00000061950
AA Change: Y911C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
135 |
146 |
N/A |
INTRINSIC |
|
Pfam:HEAT
|
236 |
263 |
2.2e-6 |
PFAM |
|
low complexity region
|
514 |
523 |
N/A |
INTRINSIC |
|
PDB:3FGA|A
|
647 |
913 |
3e-6 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162109
|
| SMART Domains |
Protein: ENSMUSP00000125220
Gene: ENSMUSG00000061950
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
152 |
163 |
N/A |
INTRINSIC |
|
Pfam:HEAT
|
253 |
280 |
7.1e-7 |
PFAM |
|
Pfam:HEAT
|
292 |
322 |
2.1e-5 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162703
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of several alternate regulatory subunits of serine/threonine protein phosphatase 4 (PP4). The protein features multiple HEAT repeats. This protein forms a complex with PP4RC. This complex may have a distinct role from other PP4 complexes, including regulation of HDAC3 (Zhang et al., PMID: 15805470). There is also a transcribed pseudogene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
C |
T |
4: 156,259,018 (GRCm39) |
|
probably benign |
Het |
| Alpi |
A |
G |
1: 87,028,994 (GRCm39) |
L60P |
probably damaging |
Het |
| Arpc1a |
A |
C |
5: 145,041,697 (GRCm39) |
I327L |
probably damaging |
Het |
| Col5a1 |
C |
T |
2: 27,864,727 (GRCm39) |
A737V |
unknown |
Het |
| Dcaf7 |
T |
C |
11: 105,945,684 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
T |
G |
11: 65,818,427 (GRCm39) |
I3304L |
probably benign |
Het |
| Dpp10 |
T |
A |
1: 123,304,376 (GRCm39) |
H508L |
probably benign |
Het |
| Dync1i1 |
A |
G |
6: 5,767,034 (GRCm39) |
D86G |
probably benign |
Het |
| Enpp7 |
T |
C |
11: 118,883,166 (GRCm39) |
|
probably null |
Het |
| Fbxw9 |
C |
A |
8: 85,792,682 (GRCm39) |
|
probably null |
Het |
| Foxred2 |
A |
G |
15: 77,829,777 (GRCm39) |
|
probably null |
Het |
| Gas2l2 |
C |
T |
11: 83,315,957 (GRCm39) |
R254H |
probably damaging |
Het |
| Gatad2b |
C |
T |
3: 90,249,198 (GRCm39) |
L79F |
possibly damaging |
Het |
| Igf1r |
A |
T |
7: 67,839,781 (GRCm39) |
D696V |
probably benign |
Het |
| Kcnk5 |
A |
G |
14: 20,196,580 (GRCm39) |
I96T |
probably damaging |
Het |
| Lrrc8c |
C |
T |
5: 105,755,224 (GRCm39) |
T333M |
possibly damaging |
Het |
| Mcm10 |
T |
C |
2: 5,006,092 (GRCm39) |
T417A |
probably benign |
Het |
| Mesp2 |
T |
C |
7: 79,461,145 (GRCm39) |
S157P |
probably benign |
Het |
| Naca |
A |
G |
10: 127,876,152 (GRCm39) |
|
probably benign |
Het |
| Or5t17 |
A |
T |
2: 86,832,417 (GRCm39) |
M35L |
probably benign |
Het |
| Osgepl1 |
A |
G |
1: 53,359,270 (GRCm39) |
T260A |
probably benign |
Het |
| Otop1 |
T |
C |
5: 38,435,170 (GRCm39) |
|
probably null |
Het |
| Pdk1 |
T |
C |
2: 71,726,096 (GRCm39) |
S335P |
probably damaging |
Het |
| Phkb |
A |
G |
8: 86,668,987 (GRCm39) |
N338S |
probably benign |
Het |
| Pogz |
G |
A |
3: 94,763,410 (GRCm39) |
V61I |
probably benign |
Het |
| Rab17 |
T |
C |
1: 90,886,940 (GRCm39) |
E160G |
probably damaging |
Het |
| Rasgrp3 |
T |
A |
17: 75,803,412 (GRCm39) |
F70Y |
probably benign |
Het |
| Rere |
T |
A |
4: 150,594,483 (GRCm39) |
N364K |
unknown |
Het |
| Ryr1 |
A |
T |
7: 28,703,944 (GRCm39) |
|
probably benign |
Het |
| Sae1 |
A |
G |
7: 16,104,273 (GRCm39) |
V112A |
probably damaging |
Het |
| Serpinb6d |
C |
T |
13: 33,855,372 (GRCm39) |
H349Y |
probably benign |
Het |
| Slc12a1 |
T |
C |
2: 125,012,596 (GRCm39) |
V286A |
probably damaging |
Het |
| Smad3 |
A |
T |
9: 63,575,009 (GRCm39) |
|
probably null |
Het |
| Sox8 |
T |
A |
17: 25,787,963 (GRCm39) |
D162V |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,087,239 (GRCm39) |
F1067L |
probably damaging |
Het |
| Tmprss3 |
T |
C |
17: 31,409,981 (GRCm39) |
Y211C |
probably damaging |
Het |
| Top2b |
T |
C |
14: 16,409,166 (GRCm38) |
|
probably benign |
Het |
| Tpp1 |
A |
T |
7: 105,396,168 (GRCm39) |
H510Q |
probably benign |
Het |
| Ugcg |
T |
A |
4: 59,218,587 (GRCm39) |
|
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,818,376 (GRCm39) |
I651N |
probably benign |
Het |
| Wdr25 |
A |
T |
12: 108,864,007 (GRCm39) |
K51* |
probably null |
Het |
|
| Other mutations in Ppp4r1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Ppp4r1
|
APN |
17 |
66,123,014 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01415:Ppp4r1
|
APN |
17 |
66,120,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02166:Ppp4r1
|
APN |
17 |
66,120,487 (GRCm39) |
missense |
probably benign |
0.01 |
|
estancia
|
UTSW |
17 |
66,110,963 (GRCm39) |
critical splice donor site |
probably null |
|
|
Hacienda
|
UTSW |
17 |
66,123,001 (GRCm39) |
missense |
probably benign |
|
|
R0304:Ppp4r1
|
UTSW |
17 |
66,123,001 (GRCm39) |
missense |
probably benign |
|
|
R0976:Ppp4r1
|
UTSW |
17 |
66,148,013 (GRCm39) |
makesense |
probably null |
|
|
R1355:Ppp4r1
|
UTSW |
17 |
66,147,982 (GRCm39) |
missense |
probably benign |
|
|
R2356:Ppp4r1
|
UTSW |
17 |
66,140,045 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2405:Ppp4r1
|
UTSW |
17 |
66,118,341 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3054:Ppp4r1
|
UTSW |
17 |
66,143,074 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4391:Ppp4r1
|
UTSW |
17 |
66,131,749 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4603:Ppp4r1
|
UTSW |
17 |
66,120,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4763:Ppp4r1
|
UTSW |
17 |
66,142,105 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5571:Ppp4r1
|
UTSW |
17 |
66,110,856 (GRCm39) |
nonsense |
probably null |
|
|
R5586:Ppp4r1
|
UTSW |
17 |
66,131,563 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5661:Ppp4r1
|
UTSW |
17 |
66,110,963 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5742:Ppp4r1
|
UTSW |
17 |
66,144,741 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5971:Ppp4r1
|
UTSW |
17 |
66,121,343 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6079:Ppp4r1
|
UTSW |
17 |
66,121,343 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6138:Ppp4r1
|
UTSW |
17 |
66,121,343 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6303:Ppp4r1
|
UTSW |
17 |
66,131,724 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6684:Ppp4r1
|
UTSW |
17 |
66,131,337 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7058:Ppp4r1
|
UTSW |
17 |
66,136,495 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7397:Ppp4r1
|
UTSW |
17 |
66,144,786 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7448:Ppp4r1
|
UTSW |
17 |
66,147,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7465:Ppp4r1
|
UTSW |
17 |
66,138,015 (GRCm39) |
nonsense |
probably null |
|
|
R7528:Ppp4r1
|
UTSW |
17 |
66,120,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7571:Ppp4r1
|
UTSW |
17 |
66,117,611 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7910:Ppp4r1
|
UTSW |
17 |
66,136,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7910:Ppp4r1
|
UTSW |
17 |
66,118,298 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7972:Ppp4r1
|
UTSW |
17 |
66,140,093 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8910:Ppp4r1
|
UTSW |
17 |
66,144,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8915:Ppp4r1
|
UTSW |
17 |
66,136,376 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8939:Ppp4r1
|
UTSW |
17 |
66,110,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9515:Ppp4r1
|
UTSW |
17 |
66,142,073 (GRCm39) |
missense |
probably null |
1.00 |
|
R9557:Ppp4r1
|
UTSW |
17 |
66,110,258 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9674:Ppp4r1
|
UTSW |
17 |
66,140,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
U15987:Ppp4r1
|
UTSW |
17 |
66,121,343 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1176:Ppp4r1
|
UTSW |
17 |
66,145,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation