Incidental Mutation 'R5661:Ppp4r1'
| ID |
501328 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp4r1
|
| Ensembl Gene |
ENSMUSG00000061950 |
| Gene Name |
protein phosphatase 4, regulatory subunit 1 |
| Synonyms |
3110001J10Rik, Pp4r1 |
| MMRRC Submission |
043304-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5661 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
66089568-66148921 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 66110963 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073104]
[ENSMUST00000160664]
[ENSMUST00000161127]
[ENSMUST00000161324]
[ENSMUST00000162109]
[ENSMUST00000162272]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000073104
|
| SMART Domains |
Protein: ENSMUSP00000072848
Gene: ENSMUSG00000061950
| 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 null
Transcript: ENSMUST00000160664
|
| SMART Domains |
Protein: ENSMUSP00000124690
Gene: ENSMUSG00000061950
| 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 |
probably null
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: ENSMUST00000161324
|
| 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 null
Transcript: ENSMUST00000162272
|
| SMART Domains |
Protein: ENSMUSP00000124227
Gene: ENSMUSG00000061950
| 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
|
| Meta Mutation Damage Score |
0.9496 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
97% (57/59) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actg2 |
A |
G |
6: 83,497,754 (GRCm39) |
I166T |
probably damaging |
Het |
| Actn1 |
T |
C |
12: 80,231,618 (GRCm39) |
E273G |
probably benign |
Het |
| Arhgap15 |
G |
A |
2: 44,212,739 (GRCm39) |
R403H |
possibly damaging |
Het |
| Arhgef26 |
T |
C |
3: 62,285,075 (GRCm39) |
|
probably benign |
Het |
| Avl9 |
A |
T |
6: 56,702,087 (GRCm39) |
R81* |
probably null |
Het |
| Brd3 |
G |
A |
2: 27,351,584 (GRCm39) |
T223I |
possibly damaging |
Het |
| Cacna2d4 |
T |
C |
6: 119,320,492 (GRCm39) |
M890T |
probably benign |
Het |
| Carm1 |
A |
G |
9: 21,498,295 (GRCm39) |
D433G |
probably benign |
Het |
| Ccdc40 |
A |
G |
11: 119,128,753 (GRCm39) |
K427E |
probably benign |
Het |
| Ccdc80 |
T |
C |
16: 44,947,808 (GRCm39) |
Y929H |
probably damaging |
Het |
| Ccr9 |
A |
C |
9: 123,609,164 (GRCm39) |
Y282S |
probably benign |
Het |
| Det1 |
C |
T |
7: 78,492,958 (GRCm39) |
E349K |
probably damaging |
Het |
| Enpep |
T |
A |
3: 129,070,406 (GRCm39) |
N834Y |
probably damaging |
Het |
| Epha7 |
A |
T |
4: 28,946,217 (GRCm39) |
|
probably null |
Het |
| Fap |
A |
T |
2: 62,367,307 (GRCm39) |
|
probably benign |
Het |
| Foxn4 |
A |
G |
5: 114,411,053 (GRCm39) |
C23R |
probably benign |
Het |
| Gad1-ps |
T |
C |
10: 99,280,901 (GRCm39) |
|
noncoding transcript |
Het |
| Gli2 |
C |
A |
1: 118,781,032 (GRCm39) |
E238* |
probably null |
Het |
| Gm20939 |
C |
A |
17: 95,183,207 (GRCm39) |
H148N |
probably damaging |
Het |
| Gnl1 |
T |
C |
17: 36,293,447 (GRCm39) |
Y211H |
probably benign |
Het |
| Gpat3 |
A |
T |
5: 101,033,808 (GRCm39) |
K221* |
probably null |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Hnrnph1 |
A |
T |
11: 50,275,507 (GRCm39) |
Q415L |
probably benign |
Het |
| Kansl3 |
T |
C |
1: 36,388,038 (GRCm39) |
E383G |
possibly damaging |
Het |
| Kdm5b |
T |
C |
1: 134,526,811 (GRCm39) |
V311A |
probably benign |
Het |
| Lipk |
T |
A |
19: 34,009,727 (GRCm39) |
M215K |
probably benign |
Het |
| Madd |
A |
G |
2: 90,984,778 (GRCm39) |
|
probably null |
Het |
| Meltf |
A |
G |
16: 31,700,744 (GRCm39) |
E88G |
possibly damaging |
Het |
| Mis18bp1 |
A |
T |
12: 65,195,626 (GRCm39) |
S713T |
probably benign |
Het |
| Mocos |
T |
A |
18: 24,799,052 (GRCm39) |
|
probably null |
Het |
| Msto1 |
T |
A |
3: 88,820,192 (GRCm39) |
D88V |
possibly damaging |
Het |
| Myo5a |
A |
G |
9: 75,074,488 (GRCm39) |
Y799C |
probably benign |
Het |
| Nectin4 |
T |
A |
1: 171,212,738 (GRCm39) |
L357H |
probably damaging |
Het |
| Or4p22 |
G |
A |
2: 88,317,441 (GRCm39) |
V122M |
probably damaging |
Het |
| Or6c2 |
A |
T |
10: 129,362,618 (GRCm39) |
H174L |
probably benign |
Het |
| Pax2 |
A |
G |
19: 44,779,161 (GRCm39) |
N179S |
probably damaging |
Het |
| Pcdhac2 |
C |
A |
18: 37,278,499 (GRCm39) |
T493K |
probably damaging |
Het |
| Pgk2 |
G |
T |
17: 40,518,287 (GRCm39) |
C380* |
probably null |
Het |
| Pi4k2b |
G |
A |
5: 52,900,906 (GRCm39) |
|
probably null |
Het |
| Plcb3 |
A |
G |
19: 6,940,588 (GRCm39) |
V416A |
probably damaging |
Het |
| Pom121l2 |
G |
A |
13: 22,168,425 (GRCm39) |
G899R |
possibly damaging |
Het |
| Prkdc |
G |
A |
16: 15,628,634 (GRCm39) |
E3460K |
possibly damaging |
Het |
| Psmb3 |
A |
G |
11: 97,597,659 (GRCm39) |
E75G |
possibly damaging |
Het |
| Retnlb |
C |
T |
16: 48,638,429 (GRCm39) |
T50I |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,329,649 (GRCm39) |
S789P |
probably benign |
Het |
| Sec24d |
C |
T |
3: 123,136,734 (GRCm39) |
T489I |
probably damaging |
Het |
| Sec24d |
T |
C |
3: 123,136,791 (GRCm39) |
M508T |
possibly damaging |
Het |
| Slc5a8 |
C |
T |
10: 88,755,290 (GRCm39) |
L466F |
possibly damaging |
Het |
| Terf1 |
T |
A |
1: 15,889,888 (GRCm39) |
V221E |
probably damaging |
Het |
| Trak1 |
A |
G |
9: 121,272,703 (GRCm39) |
N187S |
possibly damaging |
Het |
| Trappc11 |
T |
A |
8: 47,965,642 (GRCm39) |
D528V |
probably damaging |
Het |
| Tut4 |
A |
G |
4: 108,370,384 (GRCm39) |
D761G |
probably benign |
Het |
| Vmn1r170 |
A |
G |
7: 23,306,231 (GRCm39) |
N211S |
possibly damaging |
Het |
| Zfpm2 |
G |
A |
15: 40,959,467 (GRCm39) |
W50* |
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 |
|
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 |
|
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'- TACCACTCCTGTGATGAGACG -3'
(R):5'- GTACGGAATAGCTTTGGAACAC -3'
Sequencing Primer
(F):5'- CCACTCCTGTGATGAGACGATAATTG -3'
(R):5'- GAACACAAGCTCTTCCAGAGTGTTG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation