Incidental Mutation 'R5986:Ppp2r1a'
| ID |
481680 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp2r1a
|
| Ensembl Gene |
ENSMUSG00000007564 |
| Gene Name |
protein phosphatase 2, regulatory subunit A, alpha |
| Synonyms |
protein phosphatase PP2A, PR65, PP2A, 6330556D22Rik |
| MMRRC Submission |
044166-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5986 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
21165716-21186167 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 21171608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 28
(R28C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133778
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007708]
[ENSMUST00000173658]
|
| AlphaFold |
Q76MZ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007708
AA Change: R28C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000007708
Gene: ENSMUSG00000007564
AA Change: R28C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HEAT
|
166 |
196 |
4.3e-6 |
PFAM |
|
Pfam:HEAT_2
|
170 |
266 |
1.7e-8 |
PFAM |
|
Pfam:HEAT
|
283 |
313 |
3.4e-5 |
PFAM |
|
Pfam:HEAT_2
|
366 |
467 |
5.3e-12 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173658
AA Change: R28C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133778
Gene: ENSMUSG00000007564
AA Change: R28C
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2PF4|D
|
1 |
72 |
3e-40 |
PDB |
|
SCOP:d1b3ua_
|
2 |
86 |
3e-12 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes an alpha isoform of the constant regulatory subunit A. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a targeted allele that remove exons 5 and 6 exhibit embryonic lethality. Mice heterozygous for this allele exhibit increased benzopyrene-induced lung tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
A |
T |
3: 116,566,145 (GRCm39) |
F992I |
probably damaging |
Het |
| Ampd1 |
T |
C |
3: 102,992,713 (GRCm39) |
F152L |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,806,335 (GRCm39) |
H602R |
possibly damaging |
Het |
| Ankib1 |
T |
C |
5: 3,797,071 (GRCm39) |
D247G |
probably damaging |
Het |
| Bccip |
T |
A |
7: 133,322,594 (GRCm39) |
H313Q |
probably benign |
Het |
| Ccdc198 |
A |
T |
14: 49,470,403 (GRCm39) |
L172H |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,821,197 (GRCm39) |
E929G |
probably damaging |
Het |
| Chl1 |
C |
A |
6: 103,686,152 (GRCm39) |
L954I |
probably benign |
Het |
| Cog5 |
A |
T |
12: 31,710,716 (GRCm39) |
D32V |
probably benign |
Het |
| Cyp4f16 |
C |
A |
17: 32,763,116 (GRCm39) |
A187E |
probably benign |
Het |
| Dffb |
A |
T |
4: 154,050,050 (GRCm39) |
V271E |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 31,070,604 (GRCm39) |
Y4430C |
possibly damaging |
Het |
| Dpp3 |
T |
C |
19: 4,968,385 (GRCm39) |
E229G |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,909,613 (GRCm39) |
N2130Y |
probably benign |
Het |
| Kcnk3 |
T |
C |
5: 30,745,722 (GRCm39) |
V21A |
possibly damaging |
Het |
| Kif9 |
G |
A |
9: 110,319,094 (GRCm39) |
S186N |
probably benign |
Het |
| Lhfpl3 |
C |
A |
5: 22,951,424 (GRCm39) |
N78K |
probably benign |
Het |
| Ly6c1 |
A |
G |
15: 74,917,457 (GRCm39) |
S64P |
probably damaging |
Het |
| Mapk10 |
T |
C |
5: 103,186,446 (GRCm39) |
T59A |
probably benign |
Het |
| Mars1 |
A |
T |
10: 127,140,171 (GRCm39) |
C394* |
probably null |
Het |
| Mettl16 |
T |
A |
11: 74,683,063 (GRCm39) |
D168E |
possibly damaging |
Het |
| Mgat2 |
A |
T |
12: 69,232,158 (GRCm39) |
Q244L |
probably benign |
Het |
| Mrps30 |
A |
G |
13: 118,521,101 (GRCm39) |
|
probably null |
Het |
| Myrip |
C |
A |
9: 120,290,487 (GRCm39) |
A702E |
probably damaging |
Het |
| Nepn |
T |
C |
10: 52,280,168 (GRCm39) |
L420P |
probably damaging |
Het |
| Nrn1 |
A |
T |
13: 36,918,238 (GRCm39) |
Y9* |
probably null |
Het |
| Nup107 |
T |
C |
10: 117,595,081 (GRCm39) |
Y752C |
probably damaging |
Het |
| Nutm2 |
A |
T |
13: 50,628,496 (GRCm39) |
D520V |
probably damaging |
Het |
| Olfm2 |
C |
T |
9: 20,586,946 (GRCm39) |
C48Y |
probably damaging |
Het |
| Or52j3 |
T |
C |
7: 102,836,735 (GRCm39) |
F309S |
possibly damaging |
Het |
| Or8g19 |
A |
G |
9: 39,056,278 (GRCm39) |
N294S |
probably null |
Het |
| Osbpl1a |
T |
A |
18: 13,038,138 (GRCm39) |
D271V |
probably damaging |
Het |
| Osmr |
G |
T |
15: 6,873,934 (GRCm39) |
D154E |
probably benign |
Het |
| Pcdh9 |
A |
G |
14: 94,124,484 (GRCm39) |
V562A |
probably damaging |
Het |
| Peak1 |
A |
C |
9: 56,166,726 (GRCm39) |
S401A |
probably benign |
Het |
| Pigk |
A |
T |
3: 152,446,486 (GRCm39) |
H195L |
probably benign |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Pramel30 |
G |
T |
4: 144,059,323 (GRCm39) |
V345F |
probably damaging |
Het |
| Ptbp3 |
T |
C |
4: 59,493,311 (GRCm39) |
D123G |
probably benign |
Het |
| Ptgr2 |
G |
A |
12: 84,355,120 (GRCm39) |
E285K |
possibly damaging |
Het |
| Rassf1 |
G |
T |
9: 107,429,021 (GRCm39) |
V76L |
possibly damaging |
Het |
| Sec22a |
A |
G |
16: 35,134,461 (GRCm39) |
V307A |
probably damaging |
Het |
| Skint5 |
C |
T |
4: 113,852,845 (GRCm39) |
V18I |
probably benign |
Het |
| Slc1a5 |
T |
C |
7: 16,516,151 (GRCm39) |
V109A |
probably benign |
Het |
| St8sia5 |
T |
A |
18: 77,342,478 (GRCm39) |
M396K |
possibly damaging |
Het |
| Tiam1 |
T |
C |
16: 89,586,074 (GRCm39) |
E602G |
probably benign |
Het |
| Tll1 |
T |
C |
8: 64,527,297 (GRCm39) |
E408G |
probably damaging |
Het |
| Tpsb2 |
G |
A |
17: 25,586,108 (GRCm39) |
V109M |
probably benign |
Het |
| Trib1 |
T |
A |
15: 59,526,451 (GRCm39) |
|
probably null |
Het |
| Trio |
G |
T |
15: 27,852,019 (GRCm39) |
A765E |
possibly damaging |
Het |
| Uggt2 |
A |
T |
14: 119,286,838 (GRCm39) |
V193E |
probably damaging |
Het |
| Vmn1r115 |
G |
A |
7: 20,578,447 (GRCm39) |
P155L |
probably benign |
Het |
| Wdr31 |
A |
G |
4: 62,374,113 (GRCm39) |
L292S |
probably benign |
Het |
| Xrra1 |
T |
C |
7: 99,525,462 (GRCm39) |
I127T |
probably benign |
Het |
| Yju2 |
G |
A |
17: 56,269,030 (GRCm39) |
C46Y |
probably damaging |
Het |
| Zfp442 |
G |
A |
2: 150,249,944 (GRCm39) |
Q596* |
probably null |
Het |
|
| Other mutations in Ppp2r1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00959:Ppp2r1a
|
APN |
17 |
21,181,840 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01815:Ppp2r1a
|
APN |
17 |
21,177,094 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01923:Ppp2r1a
|
APN |
17 |
21,185,731 (GRCm39) |
makesense |
probably null |
|
|
IGL02411:Ppp2r1a
|
APN |
17 |
21,171,596 (GRCm39) |
splice site |
probably benign |
|
|
IGL02694:Ppp2r1a
|
APN |
17 |
21,171,702 (GRCm39) |
splice site |
probably benign |
|
|
IGL02742:Ppp2r1a
|
APN |
17 |
21,179,265 (GRCm39) |
missense |
probably benign |
0.01 |
|
Altricial
|
UTSW |
17 |
21,174,979 (GRCm39) |
critical splice donor site |
probably null |
|
|
Dolmas
|
UTSW |
17 |
21,180,893 (GRCm39) |
nonsense |
probably null |
|
|
R0032:Ppp2r1a
|
UTSW |
17 |
21,165,846 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R0403:Ppp2r1a
|
UTSW |
17 |
21,177,303 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1170:Ppp2r1a
|
UTSW |
17 |
21,171,593 (GRCm39) |
splice site |
probably benign |
|
|
R1652:Ppp2r1a
|
UTSW |
17 |
21,176,236 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1857:Ppp2r1a
|
UTSW |
17 |
21,181,951 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2215:Ppp2r1a
|
UTSW |
17 |
21,182,005 (GRCm39) |
splice site |
probably null |
|
|
R3800:Ppp2r1a
|
UTSW |
17 |
21,182,972 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4013:Ppp2r1a
|
UTSW |
17 |
21,171,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4483:Ppp2r1a
|
UTSW |
17 |
21,176,072 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5014:Ppp2r1a
|
UTSW |
17 |
21,179,101 (GRCm39) |
splice site |
probably null |
|
|
R5421:Ppp2r1a
|
UTSW |
17 |
21,176,968 (GRCm39) |
missense |
probably benign |
|
|
R5615:Ppp2r1a
|
UTSW |
17 |
21,179,249 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5945:Ppp2r1a
|
UTSW |
17 |
21,179,675 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6466:Ppp2r1a
|
UTSW |
17 |
21,180,893 (GRCm39) |
nonsense |
probably null |
|
|
R6727:Ppp2r1a
|
UTSW |
17 |
21,176,087 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6738:Ppp2r1a
|
UTSW |
17 |
21,174,979 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6934:Ppp2r1a
|
UTSW |
17 |
21,181,895 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7549:Ppp2r1a
|
UTSW |
17 |
21,182,944 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7904:Ppp2r1a
|
UTSW |
17 |
21,182,003 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7922:Ppp2r1a
|
UTSW |
17 |
21,174,879 (GRCm39) |
missense |
probably benign |
|
|
R7998:Ppp2r1a
|
UTSW |
17 |
21,181,901 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8150:Ppp2r1a
|
UTSW |
17 |
21,179,700 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8204:Ppp2r1a
|
UTSW |
17 |
21,177,035 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9347:Ppp2r1a
|
UTSW |
17 |
21,181,877 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9352:Ppp2r1a
|
UTSW |
17 |
21,185,499 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9528:Ppp2r1a
|
UTSW |
17 |
21,176,153 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9712:Ppp2r1a
|
UTSW |
17 |
21,179,058 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9772:Ppp2r1a
|
UTSW |
17 |
21,181,855 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGGGGAAGTTCTGTCTTC -3'
(R):5'- CATGCTACAGTGGCATAGGG -3'
Sequencing Primer
(F):5'- GTCTTCCATTGCTAACATTGCTAATG -3'
(R):5'- TGCTACAGTGGCATAGGGAACAC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation