Incidental Mutation 'R4391:Ppp4r1'
ID |
326381 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp4r1
|
Ensembl Gene |
ENSMUSG00000061950 |
Gene Name |
protein phosphatase 4, regulatory subunit 1 |
Synonyms |
3110001J10Rik, Pp4r1 |
MMRRC Submission |
041682-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4391 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
66089568-66148921 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 66131749 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 497
(N497S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124690
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073104]
[ENSMUST00000160664]
[ENSMUST00000162109]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000073104
AA Change: N514S
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000072848 Gene: ENSMUSG00000061950 AA Change: N514S
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 |
unknown
Transcript: ENSMUST00000159646
AA Change: N74S
|
SMART Domains |
Protein: ENSMUSP00000123796 Gene: ENSMUSG00000061950 AA Change: N74S
Domain | Start | End | E-Value | Type |
low complexity region
|
92 |
101 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160664
AA Change: N497S
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000124690 Gene: ENSMUSG00000061950 AA Change: N497S
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: 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 |
noncoding transcript
Transcript: ENSMUST00000182940
|
Meta Mutation Damage Score |
0.0682 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.6%
- 10x: 96.4%
- 20x: 91.6%
|
Validation Efficiency |
100% (40/40) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030469F06Rik |
A |
T |
12: 31,234,622 (GRCm39) |
|
noncoding transcript |
Het |
Actn2 |
C |
T |
13: 12,305,634 (GRCm39) |
R394Q |
probably damaging |
Het |
Atg16l1 |
A |
G |
1: 87,687,842 (GRCm39) |
D62G |
probably damaging |
Het |
Atp2b1 |
A |
G |
10: 98,839,076 (GRCm39) |
T635A |
probably benign |
Het |
Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
Dnah1 |
G |
A |
14: 31,016,792 (GRCm39) |
T1575I |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,376,754 (GRCm39) |
|
probably null |
Het |
Dnajc12 |
A |
G |
10: 63,242,838 (GRCm39) |
T37A |
probably benign |
Het |
Efcab5 |
T |
A |
11: 76,981,284 (GRCm39) |
N1354I |
probably damaging |
Het |
Epas1 |
T |
C |
17: 87,117,091 (GRCm39) |
L218P |
probably benign |
Het |
Fbxw15 |
T |
A |
9: 109,397,300 (GRCm39) |
|
probably benign |
Het |
Filip1l |
C |
A |
16: 57,391,155 (GRCm39) |
S581* |
probably null |
Het |
Focad |
T |
A |
4: 88,104,195 (GRCm39) |
I358K |
probably damaging |
Het |
Gm382 |
T |
A |
X: 125,968,942 (GRCm39) |
S376T |
probably benign |
Het |
Gpsm1 |
C |
T |
2: 26,214,009 (GRCm39) |
R179C |
probably damaging |
Het |
Hjurp |
A |
G |
1: 88,194,283 (GRCm39) |
|
probably benign |
Het |
Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
Krt39 |
C |
T |
11: 99,405,578 (GRCm39) |
A441T |
probably benign |
Het |
Nrdc |
T |
A |
4: 108,903,841 (GRCm39) |
N662K |
probably damaging |
Het |
Obox5 |
C |
T |
7: 15,491,899 (GRCm39) |
Q105* |
probably null |
Het |
Or56a3b |
T |
A |
7: 104,770,793 (GRCm39) |
M43K |
possibly damaging |
Het |
Or5af1 |
T |
A |
11: 58,722,841 (GRCm39) |
V287D |
possibly damaging |
Het |
Or8c13 |
A |
T |
9: 38,091,645 (GRCm39) |
V158D |
probably damaging |
Het |
Pcdhb5 |
T |
A |
18: 37,455,789 (GRCm39) |
L723Q |
possibly damaging |
Het |
Pou3f3 |
G |
T |
1: 42,736,618 (GRCm39) |
A105S |
unknown |
Het |
Ppp1r3d |
C |
T |
2: 178,055,880 (GRCm39) |
D41N |
probably damaging |
Het |
Rad54b |
T |
G |
4: 11,615,570 (GRCm39) |
N859K |
probably benign |
Het |
Sh3bp2 |
C |
T |
5: 34,707,062 (GRCm39) |
S29L |
probably benign |
Het |
Smarcad1 |
A |
T |
6: 65,033,443 (GRCm39) |
N142I |
probably benign |
Het |
Sp140l1 |
G |
A |
1: 85,062,852 (GRCm39) |
|
probably benign |
Het |
Stat3 |
G |
A |
11: 100,796,378 (GRCm39) |
|
probably benign |
Het |
Stmn3 |
T |
C |
2: 180,950,576 (GRCm39) |
R77G |
probably benign |
Het |
Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
Xlr3a |
T |
C |
X: 72,135,450 (GRCm39) |
I87V |
possibly damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAATGGTAGAAAGCCTGACACC -3'
(R):5'- GGTGATTTCTGAGTGAACACATC -3'
Sequencing Primer
(F):5'- TTAGACCAGGACATGTTCAACTC -3'
(R):5'- TGAGTGAACACATCTATTCAACAAC -3'
|
Posted On |
2015-07-06 |