Incidental Mutation 'R5615:Ppp2r1a'
| ID |
438215 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5615 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
21165716-21186167 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21179249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 96
(T96S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133334
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007708]
[ENSMUST00000147983]
[ENSMUST00000173658]
|
| AlphaFold |
Q76MZ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007708
AA Change: T324S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000007708
Gene: ENSMUSG00000007564
AA Change: T324S
| 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 |
noncoding transcript
Transcript: ENSMUST00000136975
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138971
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139293
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147983
AA Change: T96S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000133334
Gene: ENSMUSG00000007564
AA Change: T96S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HEAT
|
13 |
43 |
2.1e-5 |
PFAM |
|
Pfam:HEAT
|
52 |
82 |
2.9e-5 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173359
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173658
|
| SMART Domains |
Protein: ENSMUSP00000133778
Gene: ENSMUSG00000007564
| 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: 99.8%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,346,218 (GRCm39) |
L884H |
probably damaging |
Het |
| Ahr |
A |
G |
12: 35,553,884 (GRCm39) |
V745A |
probably benign |
Het |
| Ankrd17 |
A |
T |
5: 90,431,295 (GRCm39) |
S830T |
possibly damaging |
Het |
| Aox1 |
A |
G |
1: 58,136,125 (GRCm39) |
T1123A |
probably benign |
Het |
| Arhgef11 |
T |
C |
3: 87,629,792 (GRCm39) |
|
probably null |
Het |
| Bcas3 |
T |
A |
11: 85,361,587 (GRCm39) |
C250S |
probably damaging |
Het |
| Bckdk |
T |
C |
7: 127,506,489 (GRCm39) |
I272T |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,287,916 (GRCm39) |
K1897E |
probably damaging |
Het |
| Cd180 |
A |
T |
13: 102,842,711 (GRCm39) |
I586F |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,367,012 (GRCm39) |
D1121G |
probably damaging |
Het |
| Clasrp |
A |
G |
7: 19,320,372 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
G |
T |
4: 63,199,351 (GRCm39) |
K912N |
probably damaging |
Het |
| Dock4 |
G |
T |
12: 40,699,479 (GRCm39) |
R231L |
probably benign |
Het |
| Ell |
G |
A |
8: 71,043,382 (GRCm39) |
S505N |
probably benign |
Het |
| Ephb6 |
A |
G |
6: 41,596,225 (GRCm39) |
T833A |
probably benign |
Het |
| Hemk1 |
T |
A |
9: 107,208,023 (GRCm39) |
|
probably null |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hspa12a |
T |
C |
19: 58,793,082 (GRCm39) |
I368V |
possibly damaging |
Het |
| Igkv3-3 |
A |
T |
6: 70,664,214 (GRCm39) |
T19S |
probably benign |
Het |
| Itpr1 |
G |
A |
6: 108,465,561 (GRCm39) |
A2158T |
possibly damaging |
Het |
| Lancl2 |
T |
C |
6: 57,699,496 (GRCm39) |
Y104H |
probably damaging |
Het |
| Leng8 |
G |
T |
7: 4,147,957 (GRCm39) |
E634* |
probably null |
Het |
| Lrrk1 |
A |
T |
7: 65,937,363 (GRCm39) |
C930S |
probably damaging |
Het |
| Lvrn |
C |
T |
18: 46,983,395 (GRCm39) |
S46L |
possibly damaging |
Het |
| Mcidas |
G |
A |
13: 113,133,959 (GRCm39) |
V148I |
probably benign |
Het |
| Mprip |
A |
T |
11: 59,649,313 (GRCm39) |
T1006S |
probably benign |
Het |
| Mrgprb3 |
T |
A |
7: 48,293,234 (GRCm39) |
M106L |
probably benign |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Mtor |
G |
A |
4: 148,622,733 (GRCm39) |
V1938I |
possibly damaging |
Het |
| Muc2 |
A |
G |
7: 141,277,446 (GRCm39) |
D46G |
probably damaging |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Or10ag52 |
T |
A |
2: 87,044,083 (GRCm39) |
F282L |
probably benign |
Het |
| Or6c215 |
A |
T |
10: 129,637,636 (GRCm39) |
C253S |
probably damaging |
Het |
| Osbp2 |
C |
T |
11: 3,813,356 (GRCm39) |
G171D |
probably benign |
Het |
| Otud6b |
A |
T |
4: 14,818,187 (GRCm39) |
M238K |
possibly damaging |
Het |
| Pcdhac2 |
G |
A |
18: 37,279,476 (GRCm39) |
G819R |
probably benign |
Het |
| Pcdhac2 |
G |
T |
18: 37,279,477 (GRCm39) |
G819V |
probably benign |
Het |
| Pcdhga12 |
T |
G |
18: 37,901,132 (GRCm39) |
S655A |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,356,842 (GRCm39) |
I756V |
probably benign |
Het |
| Plekhd1 |
T |
A |
12: 80,767,364 (GRCm39) |
S251T |
probably damaging |
Het |
| Qser1 |
A |
C |
2: 104,620,039 (GRCm39) |
S258A |
possibly damaging |
Het |
| Rsph4a |
G |
A |
10: 33,785,324 (GRCm39) |
A412T |
probably benign |
Het |
| Sanbr |
A |
T |
11: 23,556,759 (GRCm39) |
L407H |
probably damaging |
Het |
| Sass6 |
T |
A |
3: 116,401,135 (GRCm39) |
C159S |
probably benign |
Het |
| Scaf4 |
T |
C |
16: 90,048,848 (GRCm39) |
Q322R |
unknown |
Het |
| Sema6d |
C |
T |
2: 124,498,821 (GRCm39) |
H244Y |
probably damaging |
Het |
| Sigirr |
T |
G |
7: 140,672,632 (GRCm39) |
L163F |
probably damaging |
Het |
| Spata31d1c |
C |
A |
13: 65,183,078 (GRCm39) |
L207I |
possibly damaging |
Het |
| Tacstd2 |
A |
G |
6: 67,512,033 (GRCm39) |
F220L |
probably damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
| Tnxb |
C |
A |
17: 34,902,392 (GRCm39) |
Q1082K |
probably damaging |
Het |
| Trim41 |
GCCTAGGCGCCCA |
G |
11: 48,698,192 (GRCm39) |
|
probably benign |
Het |
| Trpm6 |
C |
T |
19: 18,807,297 (GRCm39) |
R1014C |
probably damaging |
Het |
| Ugt1a10 |
TTCATCA |
TTCA |
1: 88,143,880 (GRCm39) |
|
probably benign |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Vmn2r61 |
T |
A |
7: 41,916,677 (GRCm39) |
M430K |
probably benign |
Het |
| Vmn2r61 |
A |
G |
7: 41,949,917 (GRCm39) |
E779G |
probably damaging |
Het |
| Zfp599 |
T |
C |
9: 22,165,165 (GRCm39) |
D70G |
probably benign |
Het |
| Zmym1 |
A |
T |
4: 126,943,191 (GRCm39) |
I301N |
probably damaging |
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 |
|
|
R5945:Ppp2r1a
|
UTSW |
17 |
21,179,675 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5986:Ppp2r1a
|
UTSW |
17 |
21,171,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CTGATGAAGGACTGTGAGGC -3'
(R):5'- AGGGAACTCTGGTCTCTGAG -3'
Sequencing Primer
(F):5'- ACTGTGAGGCCGAGGTG -3'
(R):5'- TGGTCTCTGAGCAGTAAATACATCCC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation