Incidental Mutation 'IGL01570:Ppp2r5d'
ID |
91108 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ppp2r5d
|
Ensembl Gene |
ENSMUSG00000059409 |
Gene Name |
protein phosphatase 2, regulatory subunit B', delta |
Synonyms |
TEG-271, Tex271, B'delta |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.175)
|
Stock # |
IGL01570
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
46993917-47015952 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 46998843 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 73
(V73D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002839
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002839]
[ENSMUST00000002845]
|
AlphaFold |
Q7TNL5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002839
AA Change: V73D
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000002839 Gene: ENSMUSG00000059409 AA Change: V73D
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf3 |
T |
C |
16: 20,378,748 (GRCm39) |
S54P |
probably damaging |
Het |
Adam5 |
A |
G |
8: 25,300,839 (GRCm39) |
V230A |
probably damaging |
Het |
Arid4b |
T |
A |
13: 14,361,394 (GRCm39) |
|
probably benign |
Het |
Cep250 |
T |
G |
2: 155,809,583 (GRCm39) |
|
probably benign |
Het |
Col28a1 |
T |
A |
6: 8,014,540 (GRCm39) |
D955V |
probably damaging |
Het |
Gm7676 |
A |
G |
8: 13,946,311 (GRCm39) |
|
noncoding transcript |
Het |
Hao1 |
A |
G |
2: 134,396,120 (GRCm39) |
S45P |
probably damaging |
Het |
Hars2 |
A |
T |
18: 36,920,645 (GRCm39) |
I163L |
probably benign |
Het |
Iqgap1 |
T |
C |
7: 80,372,809 (GRCm39) |
Y1510C |
possibly damaging |
Het |
Itga4 |
G |
A |
2: 79,152,978 (GRCm39) |
|
probably null |
Het |
Kif18b |
G |
A |
11: 102,803,217 (GRCm39) |
H498Y |
probably benign |
Het |
Kin |
C |
T |
2: 10,096,763 (GRCm39) |
T204M |
probably benign |
Het |
Lmo7 |
T |
C |
14: 102,139,807 (GRCm39) |
|
probably null |
Het |
Ltbp2 |
G |
A |
12: 84,840,807 (GRCm39) |
T1009I |
probably benign |
Het |
Mad1l1 |
A |
G |
5: 140,103,032 (GRCm39) |
S489P |
probably benign |
Het |
Memo1 |
A |
G |
17: 74,524,103 (GRCm39) |
|
probably benign |
Het |
Myocd |
T |
A |
11: 65,091,633 (GRCm39) |
H103L |
probably benign |
Het |
Nhlrc2 |
T |
A |
19: 56,563,219 (GRCm39) |
F273I |
possibly damaging |
Het |
Or10g7 |
T |
C |
9: 39,905,625 (GRCm39) |
I173T |
probably damaging |
Het |
Or1e26 |
C |
A |
11: 73,480,209 (GRCm39) |
M118I |
probably benign |
Het |
Or5p4 |
A |
T |
7: 107,680,480 (GRCm39) |
T160S |
probably benign |
Het |
Pappa2 |
A |
C |
1: 158,642,110 (GRCm39) |
Y1315* |
probably null |
Het |
Pdzk1ip1 |
C |
T |
4: 114,946,214 (GRCm39) |
P25S |
possibly damaging |
Het |
Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
Qars1 |
C |
T |
9: 108,388,738 (GRCm39) |
T266M |
probably damaging |
Het |
Slc26a2 |
A |
C |
18: 61,331,332 (GRCm39) |
C700G |
possibly damaging |
Het |
Zfp638 |
C |
A |
6: 83,924,829 (GRCm39) |
A724E |
probably damaging |
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 |
|
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 |
R4261:Ppp2r5d
|
UTSW |
17 |
46,998,007 (GRCm39) |
nonsense |
probably null |
|
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 |
|
Posted On |
2013-12-09 |