Incidental Mutation 'R7972:Ppp4r1'
| ID |
650685 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp4r1
|
| Ensembl Gene |
ENSMUSG00000061950 |
| Gene Name |
protein phosphatase 4, regulatory subunit 1 |
| Synonyms |
3110001J10Rik, Pp4r1 |
| MMRRC Submission |
046015-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7972 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
66089568-66148921 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 66140093 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 664
(C664S)
|
| 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: C664S
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000072848
Gene: ENSMUSG00000061950
AA Change: C664S
| 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 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: C647S
PolyPhen 2
Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000124690
Gene: ENSMUSG00000061950
AA Change: C647S
| 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 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (48/49) |
| 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 |
|---|
| Abhd16a |
T |
A |
17: 35,320,287 (GRCm39) |
V384E |
probably damaging |
Het |
| Acacb |
C |
T |
5: 114,364,918 (GRCm39) |
R1533* |
probably null |
Het |
| Alox12 |
T |
A |
11: 70,133,513 (GRCm39) |
M604L |
probably benign |
Het |
| Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
| Brdt |
A |
T |
5: 107,496,415 (GRCm39) |
I176F |
possibly damaging |
Het |
| Cdk5 |
G |
T |
5: 24,624,656 (GRCm39) |
T245K |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,732,395 (GRCm39) |
R1304S |
unknown |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Cyp2j11 |
T |
A |
4: 96,185,871 (GRCm39) |
E438V |
probably damaging |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
T |
C |
5: 124,803,949 (GRCm39) |
V92A |
probably benign |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Fam184a |
A |
T |
10: 53,514,355 (GRCm39) |
L1022Q |
probably damaging |
Het |
| Foxd4 |
T |
C |
19: 24,877,594 (GRCm39) |
H202R |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,233,861 (GRCm39) |
V16A |
probably benign |
Het |
| Gstcd |
A |
T |
3: 132,777,894 (GRCm39) |
F306I |
probably benign |
Het |
| H2bc13 |
A |
G |
13: 21,899,977 (GRCm39) |
S113P |
possibly damaging |
Het |
| Hivep3 |
T |
C |
4: 119,954,711 (GRCm39) |
V1009A |
possibly damaging |
Het |
| Hoxd12 |
G |
T |
2: 74,506,269 (GRCm39) |
R227L |
probably damaging |
Het |
| Ifi208 |
T |
A |
1: 173,506,556 (GRCm39) |
M113K |
possibly damaging |
Het |
| Ift70a1 |
A |
T |
2: 75,810,802 (GRCm39) |
M427K |
probably damaging |
Het |
| Kcnh4 |
T |
G |
11: 100,643,278 (GRCm39) |
T330P |
probably damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Lin28a |
G |
A |
4: 133,733,574 (GRCm39) |
P158S |
probably damaging |
Het |
| Muc16 |
C |
A |
9: 18,557,060 (GRCm39) |
E3078* |
probably null |
Het |
| Naaladl1 |
A |
G |
19: 6,156,274 (GRCm39) |
N120S |
probably damaging |
Het |
| Nol10 |
G |
A |
12: 17,402,648 (GRCm39) |
R40H |
probably benign |
Het |
| Ntng1 |
G |
A |
3: 110,042,802 (GRCm39) |
S8L |
probably benign |
Het |
| Or4a71 |
T |
G |
2: 89,357,948 (GRCm39) |
I269L |
probably benign |
Het |
| Or4c107 |
T |
A |
2: 88,789,177 (GRCm39) |
Y122* |
probably null |
Het |
| Pacsin1 |
T |
A |
17: 27,927,613 (GRCm39) |
F319I |
unknown |
Het |
| Pla2g4d |
G |
A |
2: 120,109,413 (GRCm39) |
T212I |
probably benign |
Het |
| Prodh2 |
T |
C |
7: 30,210,580 (GRCm39) |
I377T |
probably damaging |
Het |
| Prss57 |
A |
T |
10: 79,619,230 (GRCm39) |
L243H |
probably benign |
Het |
| Pxdn |
C |
T |
12: 30,056,601 (GRCm39) |
L1271F |
probably damaging |
Het |
| Ros1 |
G |
A |
10: 52,030,926 (GRCm39) |
R581* |
probably null |
Het |
| Rps6kc1 |
C |
T |
1: 190,531,321 (GRCm39) |
G894S |
probably benign |
Het |
| Sirt7 |
A |
G |
11: 120,510,016 (GRCm39) |
S183P |
unknown |
Het |
| Slc12a4 |
G |
A |
8: 106,678,237 (GRCm39) |
R319W |
possibly damaging |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Styxl2 |
T |
A |
1: 165,926,708 (GRCm39) |
E968V |
probably damaging |
Het |
| Tbc1d8 |
A |
G |
1: 39,431,250 (GRCm39) |
F374S |
probably damaging |
Het |
| Tdrd1 |
T |
A |
19: 56,837,134 (GRCm39) |
D489E |
probably damaging |
Het |
| Tiprl |
T |
A |
1: 165,064,543 (GRCm39) |
|
probably benign |
Het |
| Tpt1 |
T |
C |
14: 76,085,539 (GRCm39) |
*173Q |
probably null |
Het |
| Trim17 |
A |
G |
11: 58,859,394 (GRCm39) |
I203V |
probably benign |
Het |
| Trim43b |
T |
A |
9: 88,973,361 (GRCm39) |
H124L |
probably damaging |
Het |
| Triobp |
T |
C |
15: 78,852,186 (GRCm39) |
I780T |
probably damaging |
Het |
| Tyrobp |
G |
A |
7: 30,114,063 (GRCm39) |
G101R |
|
Het |
| Vmn1r181 |
A |
T |
7: 23,683,871 (GRCm39) |
H112L |
probably benign |
Het |
| Wdr19 |
A |
G |
5: 65,381,193 (GRCm39) |
N406D |
probably damaging |
Het |
| Zc3h12a |
T |
C |
4: 125,013,728 (GRCm39) |
K379E |
probably benign |
Het |
| Zcwpw1 |
T |
C |
5: 137,799,323 (GRCm39) |
I230T |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,477,533 (GRCm39) |
T3383A |
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 |
|
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 |
|
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'- ATGTTCAAATGTGCTATGTCCC -3'
(R):5'- ATACAGGACTACAATGACAAGTGC -3'
Sequencing Primer
(F):5'- GCACAGACAGTTGACACT -3'
(R):5'- GGACTACAATGACAAGTGCTTTCTGG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation