Incidental Mutation 'IGL00402:Ppp4r1'
| ID |
3441 |
| 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 # |
IGL00402
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
66089568-66148921 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 66123014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 339
(S339P)
|
| 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: S339P
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000072848
Gene: ENSMUSG00000061950
AA Change: S339P
| 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: ENSMUST00000160664
AA Change: S322P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000124690
Gene: ENSMUSG00000061950
AA Change: S322P
| 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: S339P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000125220
Gene: ENSMUSG00000061950
AA Change: S339P
| 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
|
| SMART Domains |
Protein: ENSMUSP00000124227
Gene: ENSMUSG00000061950
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
57 |
220 |
3e-10 |
SMART |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,514,165 (GRCm39) |
L846H |
probably benign |
Het |
| Abca6 |
A |
T |
11: 110,075,535 (GRCm39) |
L1319I |
probably damaging |
Het |
| Apob |
C |
T |
12: 8,043,065 (GRCm39) |
|
probably benign |
Het |
| Atg16l2 |
A |
C |
7: 100,945,360 (GRCm39) |
S268R |
probably benign |
Het |
| Atp1b3 |
T |
C |
9: 96,215,756 (GRCm39) |
|
probably benign |
Het |
| Atxn7 |
T |
G |
14: 14,096,324 (GRCm38) |
|
probably benign |
Het |
| Birc6 |
G |
A |
17: 74,880,558 (GRCm39) |
|
probably benign |
Het |
| C4b |
G |
A |
17: 34,953,402 (GRCm39) |
T1027I |
probably damaging |
Het |
| Caskin1 |
T |
C |
17: 24,722,863 (GRCm39) |
I577T |
probably damaging |
Het |
| Cbx6 |
A |
G |
15: 79,713,130 (GRCm39) |
V99A |
possibly damaging |
Het |
| Ccr9 |
A |
C |
9: 123,609,109 (GRCm39) |
I252L |
probably benign |
Het |
| Cdh8 |
A |
T |
8: 100,006,322 (GRCm39) |
D88E |
probably damaging |
Het |
| Cep135 |
T |
C |
5: 76,749,306 (GRCm39) |
S258P |
probably damaging |
Het |
| Cep57l1 |
T |
G |
10: 41,597,547 (GRCm39) |
|
probably benign |
Het |
| Cip2a |
T |
A |
16: 48,822,178 (GRCm39) |
H234Q |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,588,819 (GRCm39) |
T1099A |
possibly damaging |
Het |
| Col4a4 |
C |
T |
1: 82,469,362 (GRCm39) |
G802D |
unknown |
Het |
| Ddx41 |
T |
C |
13: 55,679,212 (GRCm39) |
T545A |
probably damaging |
Het |
| Disc1 |
A |
T |
8: 125,815,014 (GRCm39) |
T293S |
probably benign |
Het |
| Fam13b |
A |
T |
18: 34,587,771 (GRCm39) |
V509D |
probably damaging |
Het |
| Ffar4 |
C |
T |
19: 38,095,837 (GRCm39) |
P192L |
probably benign |
Het |
| Fn1 |
C |
A |
1: 71,680,322 (GRCm39) |
C461F |
probably damaging |
Het |
| Gm14226 |
G |
T |
2: 154,867,078 (GRCm39) |
S345I |
probably damaging |
Het |
| Gopc |
T |
C |
10: 52,225,326 (GRCm39) |
K308E |
probably damaging |
Het |
| Hapln2 |
A |
T |
3: 87,931,641 (GRCm39) |
N28K |
possibly damaging |
Het |
| Hectd1 |
T |
C |
12: 51,815,891 (GRCm39) |
S1394G |
possibly damaging |
Het |
| Hectd1 |
T |
C |
12: 51,806,215 (GRCm39) |
H1807R |
probably benign |
Het |
| Ifnl2 |
A |
T |
7: 28,208,290 (GRCm39) |
V193D |
possibly damaging |
Het |
| Il1rap |
T |
A |
16: 26,541,151 (GRCm39) |
M464K |
possibly damaging |
Het |
| Krtap16-1 |
A |
T |
11: 99,876,557 (GRCm39) |
C282* |
probably null |
Het |
| Ltv1 |
C |
T |
10: 13,066,327 (GRCm39) |
V100I |
probably benign |
Het |
| Mcf2l |
T |
C |
8: 13,050,857 (GRCm39) |
S308P |
probably damaging |
Het |
| Narf |
G |
A |
11: 121,129,344 (GRCm39) |
|
probably null |
Het |
| Nmd3 |
T |
A |
3: 69,652,573 (GRCm39) |
N386K |
possibly damaging |
Het |
| Noxo1 |
C |
T |
17: 24,917,910 (GRCm39) |
|
probably benign |
Het |
| Or1e30 |
T |
A |
11: 73,678,406 (GRCm39) |
I214N |
probably damaging |
Het |
| Ppic |
C |
T |
18: 53,542,366 (GRCm39) |
G114D |
probably damaging |
Het |
| Ptprg |
T |
A |
14: 12,215,992 (GRCm38) |
L1147Q |
probably damaging |
Het |
| Qser1 |
A |
G |
2: 104,617,326 (GRCm39) |
V1072A |
probably benign |
Het |
| Rad54l2 |
T |
A |
9: 106,577,760 (GRCm39) |
M1054L |
probably benign |
Het |
| Scara5 |
A |
C |
14: 65,975,864 (GRCm39) |
|
probably benign |
Het |
| Smtnl2 |
C |
T |
11: 72,294,085 (GRCm39) |
|
probably benign |
Het |
| Spink8 |
A |
T |
9: 109,648,287 (GRCm39) |
I25F |
probably benign |
Het |
| Vit |
G |
A |
17: 78,909,336 (GRCm39) |
|
probably null |
Het |
| Vps13b |
A |
G |
15: 35,926,372 (GRCm39) |
D3891G |
possibly damaging |
Het |
| Zfp207 |
T |
A |
11: 80,283,911 (GRCm39) |
M277K |
probably benign |
Het |
| Zp2 |
T |
C |
7: 119,732,623 (GRCm39) |
D641G |
probably benign |
Het |
|
| Other mutations in Ppp4r1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2012-04-20 |
Incidental Mutation