Incidental Mutation 'R4763:Ppp4r1'
ID |
357064 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp4r1
|
Ensembl Gene |
ENSMUSG00000061950 |
Gene Name |
protein phosphatase 4, regulatory subunit 1 |
Synonyms |
3110001J10Rik, Pp4r1 |
MMRRC Submission |
042404-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4763 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
66089568-66148921 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 66142105 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 720
(I720T)
|
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 |
possibly damaging
Transcript: ENSMUST00000073104
AA Change: I720T
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000072848 Gene: ENSMUSG00000061950 AA Change: I720T
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 |
probably benign
Transcript: ENSMUST00000160664
AA Change: I703T
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000124690 Gene: ENSMUSG00000061950 AA Change: I703T
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162703
|
Meta Mutation Damage Score |
0.6517 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
97% (73/75) |
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 |
2610303G11Rik |
A |
G |
9: 98,069,176 (GRCm39) |
|
noncoding transcript |
Het |
Abhd2 |
A |
G |
7: 79,009,879 (GRCm39) |
E418G |
probably benign |
Het |
Acox2 |
G |
T |
14: 8,241,334 (GRCm38) |
H593N |
possibly damaging |
Het |
Adam17 |
A |
G |
12: 21,384,016 (GRCm39) |
Y495H |
probably benign |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Arhgap44 |
A |
G |
11: 64,929,991 (GRCm39) |
I240T |
probably damaging |
Het |
Atp2c1 |
T |
C |
9: 105,295,766 (GRCm39) |
T653A |
probably damaging |
Het |
Atxn7l1 |
G |
A |
12: 33,408,877 (GRCm39) |
|
probably benign |
Het |
Cacng8 |
T |
C |
7: 3,463,508 (GRCm39) |
V220A |
probably damaging |
Het |
Card14 |
A |
T |
11: 119,234,001 (GRCm39) |
S864C |
probably damaging |
Het |
Cfap58 |
C |
T |
19: 47,971,945 (GRCm39) |
A625V |
probably damaging |
Het |
Cfap61 |
T |
C |
2: 145,859,287 (GRCm39) |
V425A |
probably benign |
Het |
Cfap73 |
A |
G |
5: 120,768,294 (GRCm39) |
F155L |
probably damaging |
Het |
Cntrl |
G |
T |
2: 35,065,563 (GRCm39) |
R2235L |
probably damaging |
Het |
Cxxc1 |
A |
G |
18: 74,352,484 (GRCm39) |
K355E |
probably damaging |
Het |
Disc1 |
G |
A |
8: 125,851,277 (GRCm39) |
G387D |
probably damaging |
Het |
Dpf2 |
T |
C |
19: 5,952,480 (GRCm39) |
Y286C |
probably damaging |
Het |
E2f7 |
A |
T |
10: 110,616,710 (GRCm39) |
K650M |
probably damaging |
Het |
Fbln2 |
C |
T |
6: 91,246,982 (GRCm39) |
S1027F |
probably damaging |
Het |
Foxj2 |
G |
T |
6: 122,810,230 (GRCm39) |
Q196H |
probably benign |
Het |
Gm6811 |
A |
G |
17: 21,314,109 (GRCm39) |
|
noncoding transcript |
Het |
Gtf2i |
T |
C |
5: 134,284,818 (GRCm39) |
K409E |
probably damaging |
Het |
Hamp |
T |
A |
7: 30,641,989 (GRCm39) |
R55S |
probably damaging |
Het |
Heatr1 |
C |
T |
13: 12,445,811 (GRCm39) |
T1596I |
possibly damaging |
Het |
Hells |
T |
C |
19: 38,945,643 (GRCm39) |
V601A |
probably damaging |
Het |
Ighv5-8 |
A |
G |
12: 113,617,161 (GRCm39) |
S34P |
probably damaging |
Het |
Lig4 |
T |
C |
8: 10,022,955 (GRCm39) |
D275G |
probably damaging |
Het |
Meak7 |
A |
G |
8: 120,495,122 (GRCm39) |
V212A |
probably benign |
Het |
Med6 |
T |
C |
12: 81,629,435 (GRCm39) |
D59G |
probably damaging |
Het |
Men1 |
T |
C |
19: 6,385,102 (GRCm39) |
|
probably null |
Het |
Mlec |
G |
A |
5: 115,295,972 (GRCm39) |
A41V |
unknown |
Het |
Ncoa1 |
G |
A |
12: 4,325,297 (GRCm39) |
T927I |
probably damaging |
Het |
Neb |
T |
A |
2: 52,127,052 (GRCm39) |
K378* |
probably null |
Het |
Neb |
T |
A |
2: 52,216,732 (GRCm39) |
K148* |
probably null |
Het |
Or4b13 |
T |
A |
2: 90,082,807 (GRCm39) |
Y175F |
probably damaging |
Het |
Or4k41 |
T |
A |
2: 111,280,023 (GRCm39) |
C179* |
probably null |
Het |
Or5p73 |
G |
A |
7: 108,065,393 (GRCm39) |
M287I |
probably benign |
Het |
Or8g26 |
A |
G |
9: 39,096,256 (GRCm39) |
T261A |
probably benign |
Het |
Parp10 |
C |
T |
15: 76,117,627 (GRCm39) |
V920M |
probably damaging |
Het |
Parp6 |
C |
A |
9: 59,538,648 (GRCm39) |
P241H |
probably damaging |
Het |
Pcyox1l |
A |
G |
18: 61,830,850 (GRCm39) |
Y341H |
probably benign |
Het |
Pfas |
A |
T |
11: 68,881,020 (GRCm39) |
D1080E |
possibly damaging |
Het |
Pi4kb |
G |
T |
3: 94,911,720 (GRCm39) |
|
probably benign |
Het |
Piwil2 |
C |
T |
14: 70,614,227 (GRCm39) |
V846M |
probably damaging |
Het |
Pkd1l2 |
A |
G |
8: 117,746,168 (GRCm39) |
F1941L |
probably damaging |
Het |
Pot1b |
G |
A |
17: 56,002,160 (GRCm39) |
T138M |
possibly damaging |
Het |
Prr12 |
A |
G |
7: 44,697,119 (GRCm39) |
L932S |
unknown |
Het |
Rnaseh2a |
T |
A |
8: 85,692,021 (GRCm39) |
E84V |
probably benign |
Het |
Rpl18a |
G |
A |
8: 71,348,330 (GRCm39) |
R118C |
probably benign |
Het |
Rprm |
C |
A |
2: 53,975,228 (GRCm39) |
C30F |
possibly damaging |
Het |
Sbf2 |
G |
T |
7: 110,020,124 (GRCm39) |
L579I |
probably damaging |
Het |
Sfn |
C |
A |
4: 133,328,656 (GRCm39) |
R142L |
probably benign |
Het |
St8sia6 |
T |
C |
2: 13,677,341 (GRCm39) |
K159E |
probably damaging |
Het |
Sugct |
A |
T |
13: 17,837,372 (GRCm39) |
F86L |
probably damaging |
Het |
Tmcc3 |
T |
C |
10: 94,415,173 (GRCm39) |
S292P |
probably damaging |
Het |
Tmem33 |
A |
T |
5: 67,443,479 (GRCm39) |
I219F |
probably benign |
Het |
Trav8-1 |
C |
A |
14: 53,707,492 (GRCm39) |
T44K |
possibly damaging |
Het |
U2surp |
A |
G |
9: 95,393,844 (GRCm39) |
|
probably benign |
Het |
Use1 |
T |
C |
8: 71,819,952 (GRCm39) |
L25P |
probably damaging |
Het |
Vmn1r221 |
G |
T |
13: 23,401,958 (GRCm39) |
|
noncoding transcript |
Het |
Vmn1r50 |
C |
T |
6: 90,085,062 (GRCm39) |
T269I |
probably benign |
Het |
Washc3 |
A |
G |
10: 88,055,185 (GRCm39) |
D125G |
probably damaging |
Het |
Zfp142 |
G |
A |
1: 74,615,671 (GRCm39) |
H278Y |
probably damaging |
Het |
Zfp418 |
A |
G |
7: 7,184,444 (GRCm39) |
N136D |
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 |
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'- TGTTCAGAGTACACAGCACTTTG -3'
(R):5'- CAACACACTTAGAAAGGCGTGTC -3'
Sequencing Primer
(F):5'- TGTGCTTAGATCTCTCACAGTG -3'
(R):5'- CTTAGAAAGGCGTGTCATACAC -3'
|
Posted On |
2015-11-11 |