Incidental Mutation 'R4261:Ppp2r5d'
ID |
322678 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp2r5d
|
Ensembl Gene |
ENSMUSG00000059409 |
Gene Name |
protein phosphatase 2, regulatory subunit B', delta |
Synonyms |
TEG-271, Tex271, B'delta |
MMRRC Submission |
041074-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.175)
|
Stock # |
R4261 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
46993917-47015952 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 46998007 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 219
(Q219*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002839
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002839]
[ENSMUST00000002845]
|
AlphaFold |
Q7TNL5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000002839
AA Change: Q219*
|
SMART Domains |
Protein: ENSMUSP00000002839 Gene: ENSMUSG00000059409 AA Change: Q219*
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
59 |
N/A |
INTRINSIC |
Pfam:B56
|
95 |
505 |
6.2e-201 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000002845
|
SMART Domains |
Protein: ENSMUSP00000002845 Gene: ENSMUSG00000002768
Domain | Start | End | E-Value | Type |
Pfam:MEA1
|
1 |
174 |
1.6e-121 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181301
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
96% (53/55) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A 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 B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a delta isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a gene-trap allele exhibit lethality, while heterozygous mice display decreased prepulse inhibition. Mice homozygous for a targeted knock-out allele exhibit decreased thermal nociception threshold, impaired coordination, and increasedlatency to removing an adhesive sticker. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
T |
C |
17: 9,214,066 (GRCm39) |
S298P |
probably damaging |
Het |
4930407I10Rik |
A |
G |
15: 81,947,927 (GRCm39) |
D608G |
possibly damaging |
Het |
Actr10 |
T |
C |
12: 70,999,759 (GRCm39) |
V185A |
probably benign |
Het |
Adam9 |
G |
A |
8: 25,454,923 (GRCm39) |
Q733* |
probably null |
Het |
Adamts4 |
C |
T |
1: 171,086,673 (GRCm39) |
P822S |
probably benign |
Het |
Arhgap9 |
G |
C |
10: 127,164,334 (GRCm39) |
R537P |
probably damaging |
Het |
Bsn |
T |
A |
9: 107,987,883 (GRCm39) |
|
probably benign |
Het |
Car5a |
A |
T |
8: 122,671,488 (GRCm39) |
H15Q |
probably benign |
Het |
Disp1 |
A |
T |
1: 182,870,950 (GRCm39) |
I490N |
probably damaging |
Het |
Dlgap5 |
T |
G |
14: 47,651,245 (GRCm39) |
Y96S |
probably damaging |
Het |
Dnah10 |
T |
A |
5: 124,807,201 (GRCm39) |
V162D |
possibly damaging |
Het |
Dock7 |
A |
T |
4: 98,892,123 (GRCm39) |
M821K |
possibly damaging |
Het |
Exoc3l |
T |
C |
8: 106,017,599 (GRCm39) |
R528G |
probably damaging |
Het |
Fam234b |
G |
A |
6: 135,186,134 (GRCm39) |
G17E |
unknown |
Het |
Grhl2 |
G |
A |
15: 37,361,067 (GRCm39) |
G617D |
possibly damaging |
Het |
Herc1 |
CTGAGGACTCTTTG |
CTG |
9: 66,355,630 (GRCm39) |
|
probably null |
Het |
Hoxd9 |
C |
A |
2: 74,526,031 (GRCm39) |
|
probably benign |
Het |
Hspa9 |
A |
G |
18: 35,072,476 (GRCm39) |
S550P |
probably damaging |
Het |
Ide |
A |
C |
19: 37,306,585 (GRCm39) |
S63A |
unknown |
Het |
Kat6b |
T |
A |
14: 21,719,737 (GRCm39) |
I1363N |
probably damaging |
Het |
Ltbp1 |
T |
A |
17: 75,598,362 (GRCm39) |
C614* |
probably null |
Het |
Mphosph8 |
A |
G |
14: 56,911,922 (GRCm39) |
D315G |
probably benign |
Het |
Mthfr-ps1 |
A |
C |
5: 78,622,330 (GRCm39) |
|
noncoding transcript |
Het |
Mug1 |
A |
G |
6: 121,850,693 (GRCm39) |
T730A |
probably benign |
Het |
Myef2 |
T |
C |
2: 124,957,399 (GRCm39) |
T119A |
possibly damaging |
Het |
Pald1 |
A |
G |
10: 61,179,471 (GRCm39) |
L466P |
probably damaging |
Het |
Pcdh15 |
G |
A |
10: 74,481,512 (GRCm39) |
V286M |
probably damaging |
Het |
Pcdhgb2 |
A |
G |
18: 37,824,950 (GRCm39) |
D647G |
probably damaging |
Het |
Pdgfrb |
A |
C |
18: 61,210,703 (GRCm39) |
T737P |
probably benign |
Het |
Pgk2 |
T |
G |
17: 40,518,274 (GRCm39) |
T385P |
probably benign |
Het |
Pkp4 |
A |
G |
2: 59,135,506 (GRCm39) |
Y126C |
probably damaging |
Het |
Plppr1 |
A |
G |
4: 49,300,993 (GRCm39) |
I109V |
probably benign |
Het |
Ppcs |
A |
G |
4: 119,279,106 (GRCm39) |
F149L |
probably damaging |
Het |
Raf1 |
C |
T |
6: 115,600,015 (GRCm39) |
|
probably null |
Het |
Rfx7 |
C |
T |
9: 72,523,925 (GRCm39) |
R372W |
probably damaging |
Het |
Robo4 |
C |
A |
9: 37,316,877 (GRCm39) |
S397R |
probably benign |
Het |
Sat1 |
T |
C |
X: 153,998,182 (GRCm39) |
|
probably benign |
Het |
Serpina1c |
T |
C |
12: 103,863,339 (GRCm39) |
K287R |
probably benign |
Het |
Sgsm2 |
T |
A |
11: 74,782,854 (GRCm39) |
H34L |
probably damaging |
Het |
Slc38a4 |
A |
G |
15: 96,896,374 (GRCm39) |
Y498H |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,628,384 (GRCm39) |
Y14592F |
probably damaging |
Het |
Ube3b |
T |
C |
5: 114,536,489 (GRCm39) |
F245S |
possibly damaging |
Het |
Ugt3a1 |
G |
A |
15: 9,335,879 (GRCm39) |
|
probably null |
Het |
Wdr91 |
T |
A |
6: 34,881,457 (GRCm39) |
S297C |
possibly damaging |
Het |
Zcwpw2 |
T |
C |
9: 117,827,982 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Ppp2r5d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01362:Ppp2r5d
|
APN |
17 |
46,996,443 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01570:Ppp2r5d
|
APN |
17 |
46,998,843 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL02504:Ppp2r5d
|
APN |
17 |
47,011,019 (GRCm39) |
missense |
probably benign |
0.34 |
R0620:Ppp2r5d
|
UTSW |
17 |
46,994,944 (GRCm39) |
missense |
probably benign |
|
R0665:Ppp2r5d
|
UTSW |
17 |
46,997,330 (GRCm39) |
missense |
probably damaging |
1.00 |
R1584:Ppp2r5d
|
UTSW |
17 |
46,995,610 (GRCm39) |
missense |
probably benign |
0.45 |
R1989:Ppp2r5d
|
UTSW |
17 |
46,995,025 (GRCm39) |
missense |
probably benign |
0.00 |
R5577:Ppp2r5d
|
UTSW |
17 |
46,998,901 (GRCm39) |
missense |
probably benign |
0.00 |
R5717:Ppp2r5d
|
UTSW |
17 |
46,998,820 (GRCm39) |
missense |
probably damaging |
0.99 |
R6266:Ppp2r5d
|
UTSW |
17 |
46,996,629 (GRCm39) |
splice site |
probably null |
|
R6491:Ppp2r5d
|
UTSW |
17 |
46,996,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R6792:Ppp2r5d
|
UTSW |
17 |
47,015,782 (GRCm39) |
missense |
probably benign |
|
R7060:Ppp2r5d
|
UTSW |
17 |
46,998,279 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7100:Ppp2r5d
|
UTSW |
17 |
46,996,608 (GRCm39) |
missense |
probably benign |
0.03 |
R7197:Ppp2r5d
|
UTSW |
17 |
46,996,527 (GRCm39) |
missense |
probably damaging |
0.99 |
R7231:Ppp2r5d
|
UTSW |
17 |
46,994,986 (GRCm39) |
missense |
probably benign |
0.00 |
R7237:Ppp2r5d
|
UTSW |
17 |
46,997,206 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7420:Ppp2r5d
|
UTSW |
17 |
46,998,507 (GRCm39) |
missense |
probably null |
1.00 |
R7832:Ppp2r5d
|
UTSW |
17 |
46,995,472 (GRCm39) |
missense |
probably benign |
0.00 |
R8129:Ppp2r5d
|
UTSW |
17 |
46,995,263 (GRCm39) |
missense |
probably benign |
|
R8682:Ppp2r5d
|
UTSW |
17 |
46,997,989 (GRCm39) |
missense |
probably benign |
0.35 |
R9029:Ppp2r5d
|
UTSW |
17 |
46,998,906 (GRCm39) |
missense |
probably benign |
0.00 |
R9545:Ppp2r5d
|
UTSW |
17 |
46,995,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R9548:Ppp2r5d
|
UTSW |
17 |
46,998,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCCAAGAGAGGCACTTGCTC -3'
(R):5'- CATCTCCAGGTACCAGGAAAG -3'
Sequencing Primer
(F):5'- GCTCGCTCCACTTACACTAGGAG -3'
(R):5'- CTCCAGGTACCAGGAAAGGGATG -3'
|
Posted On |
2015-06-20 |