Incidental Mutation 'IGL01415:Ppp4r1'
ID |
80189 |
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 # |
IGL01415
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
66089568-66148921 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 66120522 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 219
(E219K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072848
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073104]
[ENSMUST00000160664]
[ENSMUST00000161127]
[ENSMUST00000162109]
[ENSMUST00000162272]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000073104
AA Change: E219K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000072848 Gene: ENSMUSG00000061950 AA Change: E219K
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 |
probably damaging
Transcript: ENSMUST00000160664
AA Change: E202K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124690 Gene: ENSMUSG00000061950 AA Change: E202K
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 |
noncoding transcript
Transcript: ENSMUST00000161100
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161127
|
SMART Domains |
Protein: ENSMUSP00000123862 Gene: ENSMUSG00000061950
Domain | Start | End | E-Value | Type |
SCOP:d1gw5a_
|
25 |
154 |
1e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162109
AA Change: E219K
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000125220 Gene: ENSMUSG00000061950 AA Change: E219K
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 |
possibly damaging
Transcript: ENSMUST00000162272
AA Change: E176K
PolyPhen 2
Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000124227 Gene: ENSMUSG00000061950 AA Change: E176K
Domain | Start | End | E-Value | Type |
SCOP:d1gw5a_
|
57 |
220 |
3e-10 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162788
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162408
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd44 |
T |
C |
1: 54,792,087 (GRCm39) |
H316R |
probably damaging |
Het |
Arfgef2 |
G |
A |
2: 166,709,275 (GRCm39) |
M1117I |
probably damaging |
Het |
Cdc42bpg |
A |
G |
19: 6,360,881 (GRCm39) |
D213G |
probably damaging |
Het |
Cfap69 |
G |
A |
5: 5,696,979 (GRCm39) |
P106S |
probably damaging |
Het |
Chkb |
A |
T |
15: 89,312,987 (GRCm39) |
L30H |
probably damaging |
Het |
Cit |
A |
G |
5: 116,079,962 (GRCm39) |
K758E |
possibly damaging |
Het |
Clstn3 |
G |
A |
6: 124,415,781 (GRCm39) |
Q634* |
probably null |
Het |
Efcab15 |
T |
C |
11: 103,091,754 (GRCm39) |
Q42R |
probably damaging |
Het |
Esrra |
C |
A |
19: 6,890,100 (GRCm39) |
W98C |
probably damaging |
Het |
Ganab |
A |
G |
19: 8,892,058 (GRCm39) |
|
probably benign |
Het |
Gcnt3 |
G |
T |
9: 69,941,739 (GRCm39) |
H276Q |
probably benign |
Het |
Gm16506 |
A |
G |
14: 43,961,630 (GRCm39) |
Y206H |
probably benign |
Het |
Gvin3 |
C |
T |
7: 106,202,258 (GRCm39) |
|
noncoding transcript |
Het |
Hkdc1 |
T |
A |
10: 62,229,638 (GRCm39) |
N680Y |
probably damaging |
Het |
Ighe |
A |
C |
12: 113,235,011 (GRCm39) |
L383R |
unknown |
Het |
Lgals9 |
T |
G |
11: 78,863,977 (GRCm39) |
D56A |
probably damaging |
Het |
Marveld3 |
G |
A |
8: 110,688,705 (GRCm39) |
T12I |
possibly damaging |
Het |
Nab2 |
A |
T |
10: 127,500,972 (GRCm39) |
L40Q |
probably damaging |
Het |
Naip6 |
T |
C |
13: 100,439,798 (GRCm39) |
E323G |
probably benign |
Het |
Nubpl |
T |
A |
12: 52,317,853 (GRCm39) |
V182E |
possibly damaging |
Het |
Or2ag15 |
A |
G |
7: 106,340,706 (GRCm39) |
V145A |
probably benign |
Het |
Or4c11 |
T |
A |
2: 88,695,864 (GRCm39) |
M305K |
probably benign |
Het |
Or6b3 |
A |
G |
1: 92,438,974 (GRCm39) |
Y259H |
probably damaging |
Het |
Peg3 |
A |
G |
7: 6,714,652 (GRCm39) |
I190T |
probably damaging |
Het |
Plcl1 |
G |
A |
1: 55,735,555 (GRCm39) |
V299M |
possibly damaging |
Het |
Sh3d19 |
G |
A |
3: 86,005,492 (GRCm39) |
A280T |
probably benign |
Het |
Srebf2 |
A |
G |
15: 82,061,663 (GRCm39) |
I370V |
probably benign |
Het |
Tfb2m |
A |
G |
1: 179,359,695 (GRCm39) |
|
probably benign |
Het |
Ttll7 |
T |
G |
3: 146,615,354 (GRCm39) |
S273A |
possibly damaging |
Het |
Unc79 |
A |
G |
12: 103,074,944 (GRCm39) |
N1401D |
probably damaging |
Het |
Vmn2r115 |
T |
A |
17: 23,578,755 (GRCm39) |
S743T |
probably damaging |
Het |
Zfand4 |
G |
A |
6: 116,291,830 (GRCm39) |
R588Q |
probably benign |
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 |
IGL02166:Ppp4r1
|
APN |
17 |
66,120,487 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02672:Ppp4r1
|
APN |
17 |
66,147,942 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-11-05 |