Incidental Mutation 'R6303:Ppp4r1'
| ID |
509175 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp4r1
|
| Ensembl Gene |
ENSMUSG00000061950 |
| Gene Name |
protein phosphatase 4, regulatory subunit 1 |
| Synonyms |
3110001J10Rik, Pp4r1 |
| MMRRC Submission |
044410-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6303 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
66089568-66148921 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66131724 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 489
(K489E)
|
| 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: K506E
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000072848
Gene: ENSMUSG00000061950
AA Change: K506E
| 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: K66E
|
| SMART Domains |
Protein: ENSMUSP00000123796
Gene: ENSMUSG00000061950
AA Change: K66E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
92 |
101 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160664
AA Change: K489E
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000124690
Gene: ENSMUSG00000061950
AA Change: K489E
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
98% (43/44) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol9b |
T |
A |
15: 77,619,504 (GRCm39) |
V100E |
probably damaging |
Het |
| Bin3 |
A |
G |
14: 70,374,625 (GRCm39) |
D218G |
possibly damaging |
Het |
| Cobll1 |
A |
T |
2: 64,928,377 (GRCm39) |
M982K |
possibly damaging |
Het |
| Crybg2 |
T |
C |
4: 133,814,898 (GRCm39) |
V1593A |
possibly damaging |
Het |
| Ctsh |
A |
G |
9: 89,944,796 (GRCm39) |
S76G |
possibly damaging |
Het |
| Dnajc10 |
T |
G |
2: 80,181,008 (GRCm39) |
D767E |
probably benign |
Het |
| Elapor1 |
A |
C |
3: 108,368,572 (GRCm39) |
C806W |
probably damaging |
Het |
| Etaa1 |
A |
C |
11: 17,897,505 (GRCm39) |
M204R |
probably damaging |
Het |
| Fbxw16 |
A |
T |
9: 109,278,169 (GRCm39) |
I3N |
probably benign |
Het |
| Fndc1 |
T |
C |
17: 7,977,317 (GRCm39) |
E1394G |
probably damaging |
Het |
| Gm19410 |
T |
C |
8: 36,274,714 (GRCm39) |
C1512R |
possibly damaging |
Het |
| Gramd4 |
A |
G |
15: 86,019,120 (GRCm39) |
E596G |
possibly damaging |
Het |
| Hephl1 |
C |
A |
9: 15,001,448 (GRCm39) |
V226F |
possibly damaging |
Het |
| Ilf3 |
G |
A |
9: 21,314,432 (GRCm39) |
|
probably benign |
Het |
| Kcnh3 |
T |
C |
15: 99,124,919 (GRCm39) |
V123A |
probably benign |
Het |
| Kdm2b |
A |
G |
5: 123,019,807 (GRCm39) |
S260P |
probably benign |
Het |
| Lingo4 |
G |
A |
3: 94,310,513 (GRCm39) |
G484R |
probably damaging |
Het |
| Lrrc10b |
T |
C |
19: 10,434,342 (GRCm39) |
Q113R |
probably benign |
Het |
| Lrrc8c |
A |
T |
5: 105,756,475 (GRCm39) |
N750I |
probably benign |
Het |
| Mtcl2 |
T |
C |
2: 156,882,684 (GRCm39) |
N456S |
possibly damaging |
Het |
| Nlrp2 |
A |
G |
7: 5,340,760 (GRCm39) |
L18P |
probably damaging |
Het |
| Nrp2 |
T |
C |
1: 62,784,565 (GRCm39) |
L238P |
probably damaging |
Het |
| Nup155 |
T |
C |
15: 8,147,526 (GRCm39) |
S262P |
probably damaging |
Het |
| Or51k1 |
G |
A |
7: 103,661,238 (GRCm39) |
L224F |
probably damaging |
Het |
| Pappa |
G |
A |
4: 65,122,891 (GRCm39) |
G742D |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,727,907 (GRCm39) |
|
probably benign |
Het |
| Phyhipl |
A |
G |
10: 70,395,387 (GRCm39) |
|
probably null |
Het |
| Plcg1 |
A |
G |
2: 160,603,383 (GRCm39) |
T1185A |
possibly damaging |
Het |
| Plscr5 |
A |
T |
9: 92,087,609 (GRCm39) |
I193F |
probably benign |
Het |
| Polr1b |
G |
A |
2: 128,957,682 (GRCm39) |
R579H |
probably damaging |
Het |
| Polr2a |
A |
T |
11: 69,637,739 (GRCm39) |
W202R |
probably damaging |
Het |
| Qser1 |
G |
A |
2: 104,593,175 (GRCm39) |
T1704I |
probably damaging |
Het |
| Sik1 |
A |
G |
17: 32,065,270 (GRCm39) |
V776A |
probably damaging |
Het |
| Spata31h1 |
T |
A |
10: 82,126,202 (GRCm39) |
K2269N |
possibly damaging |
Het |
| Spice1 |
A |
G |
16: 44,191,060 (GRCm39) |
M305V |
probably benign |
Het |
| Taf4b |
T |
C |
18: 14,940,412 (GRCm39) |
I297T |
probably damaging |
Het |
| Trim14 |
C |
A |
4: 46,522,118 (GRCm39) |
M186I |
probably benign |
Het |
| Usp49 |
C |
A |
17: 47,991,747 (GRCm39) |
Q670K |
probably damaging |
Het |
| Usp54 |
T |
C |
14: 20,611,036 (GRCm39) |
D1260G |
possibly damaging |
Het |
| Vmn1r224 |
T |
A |
17: 20,640,028 (GRCm39) |
S202T |
possibly damaging |
Het |
| Vmn1r3 |
T |
A |
4: 3,184,975 (GRCm39) |
T111S |
probably damaging |
Het |
| Zfp985 |
A |
G |
4: 147,668,232 (GRCm39) |
I367V |
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 |
|
|
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 |
|
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'- TGGTAGAAAGCCTGACACCAAC -3'
(R):5'- ACTGCAAAAGGTGATTTCTGAGTG -3'
Sequencing Primer
(F):5'- GAGGCCACTCCCTTAGACCAG -3'
(R):5'- GGTGATTTCTGAGTGAACACATC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation