Incidental Mutation 'IGL02166:Ppp4r1'
| ID |
282696 |
| 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 # |
IGL02166
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
66089568-66148921 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66120487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 207
(D207G)
|
| 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 benign
Transcript: ENSMUST00000073104
AA Change: D207G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000072848
Gene: ENSMUSG00000061950
AA Change: D207G
| 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 benign
Transcript: ENSMUST00000160664
AA Change: D190G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000124690
Gene: ENSMUSG00000061950
AA Change: D190G
| 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: D207G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000125220
Gene: ENSMUSG00000061950
AA Change: D207G
| 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: ENSMUST00000162272
AA Change: D164G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124227
Gene: ENSMUSG00000061950
AA Change: D164G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
57 |
220 |
3e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162408
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162788
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aopep |
A |
G |
13: 63,163,267 (GRCm39) |
H96R |
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cdh8 |
T |
C |
8: 99,917,083 (GRCm39) |
D344G |
probably damaging |
Het |
| Ciao3 |
A |
G |
17: 25,999,294 (GRCm39) |
D236G |
possibly damaging |
Het |
| Cltc |
T |
C |
11: 86,594,914 (GRCm39) |
I1399V |
probably benign |
Het |
| Col4a1 |
A |
T |
8: 11,294,509 (GRCm39) |
|
probably benign |
Het |
| Crtc3 |
C |
T |
7: 80,327,147 (GRCm39) |
G60R |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,594,999 (GRCm39) |
V701M |
probably damaging |
Het |
| Eif3b |
T |
A |
5: 140,425,705 (GRCm39) |
C632S |
possibly damaging |
Het |
| Ephb3 |
G |
A |
16: 21,039,499 (GRCm39) |
R417Q |
probably damaging |
Het |
| Fpr3 |
T |
C |
17: 18,190,726 (GRCm39) |
|
probably benign |
Het |
| Hpdl |
A |
G |
4: 116,678,149 (GRCm39) |
V104A |
probably damaging |
Het |
| Ighv1-55 |
T |
C |
12: 115,171,840 (GRCm39) |
S76G |
probably benign |
Het |
| Ikbip |
T |
C |
10: 90,931,652 (GRCm39) |
S99P |
probably damaging |
Het |
| Lnpk |
T |
C |
2: 74,360,061 (GRCm39) |
E318G |
probably damaging |
Het |
| Lrrc66 |
G |
A |
5: 73,764,634 (GRCm39) |
T803M |
probably damaging |
Het |
| Nxf2 |
C |
A |
X: 133,857,878 (GRCm39) |
W89L |
possibly damaging |
Het |
| Or2y11 |
A |
G |
11: 49,442,757 (GRCm39) |
Y61C |
probably damaging |
Het |
| Or5d46 |
A |
T |
2: 88,170,022 (GRCm39) |
I38F |
probably damaging |
Het |
| Or6c3b |
T |
A |
10: 129,527,782 (GRCm39) |
I43F |
probably benign |
Het |
| Osbp2 |
A |
T |
11: 3,667,983 (GRCm39) |
C5S |
probably damaging |
Het |
| Ovol2 |
T |
C |
2: 144,147,650 (GRCm39) |
N200S |
possibly damaging |
Het |
| Prdm11 |
C |
T |
2: 92,843,208 (GRCm39) |
V84M |
probably damaging |
Het |
| Rspo3 |
T |
A |
10: 29,411,275 (GRCm39) |
E17V |
possibly damaging |
Het |
| Scarf2 |
A |
G |
16: 17,621,620 (GRCm39) |
N357D |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,323,447 (GRCm39) |
D1447E |
possibly damaging |
Het |
| Sdad1 |
G |
A |
5: 92,439,621 (GRCm39) |
T433I |
probably benign |
Het |
| Seh1l |
A |
G |
18: 67,918,093 (GRCm39) |
N149S |
probably damaging |
Het |
| Sigirr |
T |
C |
7: 140,672,140 (GRCm39) |
I268M |
probably benign |
Het |
| Slc35d2 |
A |
G |
13: 64,246,162 (GRCm39) |
F282S |
probably damaging |
Het |
| Slc4a1 |
A |
T |
11: 102,245,159 (GRCm39) |
M596K |
probably damaging |
Het |
| Spta1 |
G |
A |
1: 174,017,797 (GRCm39) |
E494K |
probably damaging |
Het |
| Stk32b |
C |
A |
5: 37,656,374 (GRCm39) |
|
probably benign |
Het |
| Tex13b |
T |
C |
X: 139,713,475 (GRCm39) |
E122G |
probably damaging |
Het |
| Tmem35a |
A |
G |
X: 133,205,357 (GRCm39) |
N91S |
probably damaging |
Het |
| Tmem67 |
A |
G |
4: 12,047,313 (GRCm39) |
V841A |
possibly damaging |
Het |
| Trdv2-1 |
A |
G |
14: 54,184,068 (GRCm39) |
D100G |
probably benign |
Het |
| Tshz3 |
T |
C |
7: 36,468,346 (GRCm39) |
S112P |
probably benign |
Het |
| Tssc4 |
T |
C |
7: 142,623,938 (GRCm39) |
M82T |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,562,723 (GRCm39) |
S28744P |
probably damaging |
Het |
| Unc45b |
C |
T |
11: 82,831,007 (GRCm39) |
|
probably benign |
Het |
| Vim |
T |
C |
2: 13,579,405 (GRCm39) |
S55P |
probably damaging |
Het |
| Zmat5 |
T |
A |
11: 4,687,363 (GRCm39) |
Y139N |
possibly damaging |
Het |
| Zswim2 |
G |
A |
2: 83,745,750 (GRCm39) |
Q563* |
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 |
|
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 |
2015-04-16 |
Incidental Mutation