Incidental Mutation 'R7528:Ppp4r1'
ID |
583157 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp4r1
|
Ensembl Gene |
ENSMUSG00000061950 |
Gene Name |
protein phosphatase 4, regulatory subunit 1 |
Synonyms |
3110001J10Rik, Pp4r1 |
MMRRC Submission |
045600-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7528 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
66089568-66148921 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 66120493 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 209
(T209K)
|
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: T209K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000072848 Gene: ENSMUSG00000061950 AA Change: T209K
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: T192K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000124690 Gene: ENSMUSG00000061950 AA Change: T192K
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: ENSMUST00000161127
|
SMART Domains |
Protein: ENSMUSP00000123862 Gene: ENSMUSG00000061950
Domain | Start | End | E-Value | Type |
SCOP:d1gw5a_
|
25 |
154 |
1e-7 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162109
AA Change: T209K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000125220 Gene: ENSMUSG00000061950 AA Change: T209K
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 damaging
Transcript: ENSMUST00000162272
AA Change: T166K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124227 Gene: ENSMUSG00000061950 AA Change: T166K
Domain | Start | End | E-Value | Type |
SCOP:d1gw5a_
|
57 |
220 |
3e-10 |
SMART |
|
Meta Mutation Damage Score |
0.1324 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (57/57) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
T |
C |
14: 118,767,317 (GRCm39) |
E920G |
probably damaging |
Het |
Acss2 |
A |
C |
2: 155,399,066 (GRCm39) |
N443H |
probably damaging |
Het |
Adam3 |
C |
A |
8: 25,167,279 (GRCm39) |
A71S |
unknown |
Het |
Agpat3 |
A |
G |
10: 78,123,746 (GRCm39) |
L38P |
probably damaging |
Het |
Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
Amtn |
C |
A |
5: 88,526,711 (GRCm39) |
|
probably null |
Het |
App |
T |
G |
16: 84,775,146 (GRCm39) |
Y497S |
possibly damaging |
Het |
Bphl |
T |
A |
13: 34,244,473 (GRCm39) |
Y197N |
probably damaging |
Het |
Btrc |
T |
A |
19: 45,491,525 (GRCm39) |
M160K |
possibly damaging |
Het |
Ccdc181 |
A |
C |
1: 164,107,527 (GRCm39) |
N70T |
probably benign |
Het |
Cd55b |
T |
C |
1: 130,347,473 (GRCm39) |
N113D |
possibly damaging |
Het |
Ctrb1 |
T |
A |
8: 112,413,783 (GRCm39) |
I194F |
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,391,622 (GRCm39) |
H691R |
probably damaging |
Het |
Dnajc13 |
A |
G |
9: 104,056,164 (GRCm39) |
V1579A |
possibly damaging |
Het |
Dst |
T |
A |
1: 34,333,603 (GRCm39) |
F5030I |
probably damaging |
Het |
Eppk1 |
G |
A |
15: 76,004,308 (GRCm39) |
|
probably benign |
Het |
Fbxw4 |
T |
C |
19: 45,648,449 (GRCm39) |
E7G |
unknown |
Het |
Fos |
T |
A |
12: 85,522,432 (GRCm39) |
C154S |
probably damaging |
Het |
Foxh1 |
A |
G |
15: 76,553,511 (GRCm39) |
V97A |
probably benign |
Het |
Gmeb1 |
G |
A |
4: 131,959,361 (GRCm39) |
T231I |
possibly damaging |
Het |
Golga3 |
T |
A |
5: 110,360,098 (GRCm39) |
V1112E |
probably damaging |
Het |
Gprin3 |
T |
C |
6: 59,331,017 (GRCm39) |
D430G |
possibly damaging |
Het |
Hpse2 |
T |
C |
19: 42,801,463 (GRCm39) |
D441G |
probably damaging |
Het |
Hydin |
G |
A |
8: 111,107,204 (GRCm39) |
W460* |
probably null |
Het |
Ifi204 |
T |
C |
1: 173,579,406 (GRCm39) |
I480V |
probably benign |
Het |
Impg2 |
T |
C |
16: 56,080,743 (GRCm39) |
V849A |
possibly damaging |
Het |
Kars1 |
T |
C |
8: 112,737,866 (GRCm39) |
D12G |
probably benign |
Het |
Klhdc7a |
A |
T |
4: 139,694,828 (GRCm39) |
Y40N |
probably damaging |
Het |
Krtap5-3 |
T |
C |
7: 141,755,219 (GRCm39) |
C19R |
unknown |
Het |
Macf1 |
G |
A |
4: 123,325,852 (GRCm39) |
A5217V |
possibly damaging |
Het |
Mlc1 |
A |
T |
15: 88,858,710 (GRCm39) |
I146N |
possibly damaging |
Het |
Myo3a |
A |
T |
2: 22,270,925 (GRCm39) |
R129* |
probably null |
Het |
Nsun4 |
G |
T |
4: 115,891,391 (GRCm39) |
Y329* |
probably null |
Het |
Or4k1 |
A |
G |
14: 50,377,277 (GRCm39) |
V273A |
possibly damaging |
Het |
Or56a3b |
T |
C |
7: 104,771,071 (GRCm39) |
Y136H |
probably damaging |
Het |
Pard3 |
G |
A |
8: 128,329,646 (GRCm39) |
R1214H |
probably damaging |
Het |
Phf20 |
T |
A |
2: 156,144,928 (GRCm39) |
Y845* |
probably null |
Het |
Pik3c2a |
A |
G |
7: 115,993,474 (GRCm39) |
I431T |
probably damaging |
Het |
Plxna2 |
A |
G |
1: 194,494,464 (GRCm39) |
S1894G |
probably damaging |
Het |
Ppp1r7 |
C |
T |
1: 93,282,123 (GRCm39) |
Q225* |
probably null |
Het |
Prc1 |
T |
C |
7: 79,950,183 (GRCm39) |
|
probably null |
Het |
Prex2 |
T |
G |
1: 11,274,316 (GRCm39) |
D1329E |
probably damaging |
Het |
Ptch1 |
C |
T |
13: 63,659,528 (GRCm39) |
R1375H |
probably benign |
Het |
Rab24 |
A |
T |
13: 55,468,921 (GRCm39) |
C87S |
probably damaging |
Het |
Rnf43 |
A |
T |
11: 87,622,954 (GRCm39) |
Y558F |
probably benign |
Het |
Serpinb6e |
T |
C |
13: 34,016,474 (GRCm39) |
I420V |
possibly damaging |
Het |
Slain2 |
C |
A |
5: 73,072,143 (GRCm39) |
S59* |
probably null |
Het |
Slfn3 |
A |
G |
11: 83,105,731 (GRCm39) |
D576G |
probably benign |
Het |
Sptbn4 |
A |
G |
7: 27,141,960 (GRCm39) |
M11T |
probably benign |
Het |
Tdh |
T |
C |
14: 63,731,460 (GRCm39) |
D238G |
probably damaging |
Het |
Top2b |
T |
A |
14: 16,395,427 (GRCm38) |
Y337* |
probably null |
Het |
Trav15-2-dv6-2 |
A |
C |
14: 53,887,308 (GRCm39) |
Y76S |
probably benign |
Het |
Vmn1r172 |
G |
T |
7: 23,359,189 (GRCm39) |
G25C |
probably damaging |
Het |
Vmn2r60 |
AG |
A |
7: 41,845,158 (GRCm39) |
|
probably null |
Het |
Vps13d |
T |
C |
4: 144,818,492 (GRCm39) |
E3125G |
|
Het |
Xkr6 |
G |
T |
14: 64,056,610 (GRCm39) |
V430F |
probably benign |
Het |
Zfp142 |
T |
C |
1: 74,610,061 (GRCm39) |
T1245A |
probably benign |
Het |
Zfp960 |
C |
T |
17: 17,307,825 (GRCm39) |
H180Y |
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 |
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 |
|
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'- CTCTTTCGAAGTTACTGGCAAAATG -3'
(R):5'- TTGGCCAACTACACTGCAAATATCTC -3'
Sequencing Primer
(F):5'- CGAAGTTACTGGCAAAATGATTAAG -3'
(R):5'- AATTGGCAGCGCAGACCTG -3'
|
Posted On |
2019-10-17 |