Incidental Mutation 'R2356:Ppp4r1'
| ID |
246980 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp4r1
|
| Ensembl Gene |
ENSMUSG00000061950 |
| Gene Name |
protein phosphatase 4, regulatory subunit 1 |
| Synonyms |
3110001J10Rik, Pp4r1 |
| MMRRC Submission |
040338-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2356 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
66089568-66148921 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 66140045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 648
(Y648N)
|
| 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: Y648N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000072848
Gene: ENSMUSG00000061950
AA Change: Y648N
| 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 benign
Transcript: ENSMUST00000159646
|
| SMART Domains |
Protein: ENSMUSP00000123796
Gene: ENSMUSG00000061950
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
92 |
101 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160664
AA Change: Y631N
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124690
Gene: ENSMUSG00000061950
AA Change: Y631N
| 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 |
probably benign
Transcript: ENSMUST00000162703
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182940
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
G |
T |
16: 20,379,249 (GRCm39) |
R705L |
probably benign |
Het |
| Adcy6 |
A |
T |
15: 98,494,897 (GRCm39) |
|
probably null |
Het |
| Ank1 |
A |
T |
8: 23,575,688 (GRCm39) |
T145S |
probably damaging |
Het |
| Aph1a |
T |
C |
3: 95,801,544 (GRCm39) |
F21S |
probably benign |
Het |
| Apoa5 |
T |
A |
9: 46,181,341 (GRCm39) |
V139E |
probably damaging |
Het |
| Arhgap44 |
T |
C |
11: 64,900,851 (GRCm39) |
K595R |
probably damaging |
Het |
| Arhgap5 |
C |
T |
12: 52,565,930 (GRCm39) |
P967L |
probably benign |
Het |
| Atp13a5 |
A |
T |
16: 29,099,887 (GRCm39) |
I683N |
probably damaging |
Het |
| Cdc6 |
A |
G |
11: 98,810,118 (GRCm39) |
T476A |
probably benign |
Het |
| Cdk10 |
T |
C |
8: 123,955,908 (GRCm39) |
V199A |
probably damaging |
Het |
| Ces2h |
G |
A |
8: 105,742,570 (GRCm39) |
C94Y |
probably damaging |
Het |
| Clcn1 |
G |
A |
6: 42,268,559 (GRCm39) |
G155D |
probably damaging |
Het |
| Cxcr4 |
A |
G |
1: 128,517,251 (GRCm39) |
Y135H |
probably damaging |
Het |
| Dapp1 |
A |
G |
3: 137,643,510 (GRCm39) |
V184A |
possibly damaging |
Het |
| Dhrs7 |
A |
C |
12: 72,699,155 (GRCm39) |
S276A |
probably benign |
Het |
| Dlg5 |
A |
G |
14: 24,220,496 (GRCm39) |
|
probably null |
Het |
| Dnaaf1 |
T |
A |
8: 120,315,026 (GRCm39) |
F278Y |
probably damaging |
Het |
| Dnaaf2 |
A |
G |
12: 69,244,992 (GRCm39) |
F23S |
probably benign |
Het |
| En2 |
G |
T |
5: 28,371,330 (GRCm39) |
|
probably benign |
Het |
| Erbb4 |
T |
A |
1: 68,117,755 (GRCm39) |
M887L |
probably benign |
Het |
| Exoc5 |
T |
C |
14: 49,253,738 (GRCm39) |
M482V |
probably benign |
Het |
| Foxk1 |
A |
G |
5: 142,441,164 (GRCm39) |
I571V |
possibly damaging |
Het |
| Fry |
G |
A |
5: 150,394,897 (GRCm39) |
G650D |
probably benign |
Het |
| Gm8225 |
T |
C |
17: 26,762,378 (GRCm39) |
S190P |
probably damaging |
Het |
| Gpx5 |
G |
C |
13: 21,475,538 (GRCm39) |
H63D |
possibly damaging |
Het |
| Ipo9 |
A |
T |
1: 135,334,555 (GRCm39) |
S285T |
probably benign |
Het |
| Itga8 |
T |
C |
2: 12,204,952 (GRCm39) |
H495R |
probably benign |
Het |
| Klf11 |
T |
C |
12: 24,703,582 (GRCm39) |
S6P |
probably damaging |
Het |
| Krtap8-1 |
A |
T |
16: 89,284,789 (GRCm39) |
Y3N |
possibly damaging |
Het |
| Krtap8-1 |
G |
T |
16: 89,284,790 (GRCm39) |
Y2* |
probably null |
Het |
| Lama1 |
T |
A |
17: 68,117,109 (GRCm39) |
L2468Q |
probably damaging |
Het |
| Lmo7 |
T |
C |
14: 102,124,381 (GRCm39) |
L280S |
probably damaging |
Het |
| Matk |
G |
A |
10: 81,097,377 (GRCm39) |
|
probably null |
Het |
| Mcmdc2 |
A |
G |
1: 10,001,026 (GRCm39) |
T434A |
possibly damaging |
Het |
| Mst1r |
T |
A |
9: 107,795,069 (GRCm39) |
L1283Q |
probably damaging |
Het |
| Muc21 |
A |
G |
17: 35,932,563 (GRCm39) |
|
probably benign |
Het |
| Nbn |
T |
A |
4: 15,970,863 (GRCm39) |
I282N |
probably damaging |
Het |
| Ncln |
A |
G |
10: 81,328,756 (GRCm39) |
V174A |
probably benign |
Het |
| Nipa2 |
G |
A |
7: 55,582,714 (GRCm39) |
H344Y |
probably benign |
Het |
| Nlrp4g |
A |
G |
9: 124,349,306 (GRCm38) |
|
noncoding transcript |
Het |
| Or56b1 |
G |
T |
7: 104,285,834 (GRCm39) |
E318* |
probably null |
Het |
| Or6c38 |
T |
C |
10: 128,929,761 (GRCm39) |
I27M |
probably benign |
Het |
| Pik3r5 |
T |
C |
11: 68,383,743 (GRCm39) |
S521P |
probably damaging |
Het |
| Pkhd1l1 |
C |
T |
15: 44,396,415 (GRCm39) |
T1979M |
probably benign |
Het |
| Plekhn1 |
T |
G |
4: 156,307,158 (GRCm39) |
D464A |
probably damaging |
Het |
| Prkaa2 |
C |
T |
4: 104,896,918 (GRCm39) |
|
probably null |
Het |
| Prkdc |
T |
A |
16: 15,502,068 (GRCm39) |
H828Q |
probably benign |
Het |
| Prss40 |
A |
T |
1: 34,598,984 (GRCm39) |
Y69* |
probably null |
Het |
| Prx |
C |
T |
7: 27,207,284 (GRCm39) |
|
probably benign |
Het |
| Psmd11 |
T |
A |
11: 80,319,530 (GRCm39) |
S7T |
possibly damaging |
Het |
| Psmd14 |
A |
T |
2: 61,630,351 (GRCm39) |
H287L |
probably benign |
Het |
| Rcor1 |
T |
C |
12: 111,076,226 (GRCm39) |
Y297H |
probably damaging |
Het |
| Rnf40 |
T |
G |
7: 127,190,748 (GRCm39) |
V272G |
probably damaging |
Het |
| Serpina3f |
G |
T |
12: 104,183,626 (GRCm39) |
E163* |
probably null |
Het |
| Setd4 |
G |
A |
16: 93,387,871 (GRCm39) |
T205I |
probably damaging |
Het |
| Shroom1 |
A |
T |
11: 53,357,274 (GRCm39) |
T646S |
probably benign |
Het |
| Smg8 |
G |
C |
11: 86,976,554 (GRCm39) |
S342R |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,119,789 (GRCm39) |
V4407A |
possibly damaging |
Het |
| Trhde |
T |
C |
10: 114,237,421 (GRCm39) |
Y986C |
probably damaging |
Het |
| Tulp2 |
A |
T |
7: 45,168,052 (GRCm39) |
T155S |
possibly damaging |
Het |
| Vmn1r212 |
A |
T |
13: 23,068,120 (GRCm39) |
L71* |
probably null |
Het |
| Wnk2 |
A |
T |
13: 49,192,644 (GRCm39) |
C2032* |
probably null |
Het |
| Zfp429 |
A |
G |
13: 67,538,746 (GRCm39) |
Y233H |
probably benign |
Het |
| Zfp809 |
C |
A |
9: 22,154,336 (GRCm39) |
T351K |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCACTAGATATCTCAGGTTTTGG -3'
(R):5'- GGACACAGAAGTCTTCAGATTGTG -3'
Sequencing Primer
(F):5'- TAGTCACATTTATGTCTAACCTGCTG -3'
(R):5'- CAGAAGTCTTCAGATTGTGAAAACC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation