Incidental Mutation 'R5717:Ppp2r5d'
| ID |
451242 |
| 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 |
043337-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R5717 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
46993917-47015952 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46998820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 81
(S81P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002839]
[ENSMUST00000002845]
|
| AlphaFold |
Q7TNL5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002839
AA Change: S81P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000002839
Gene: ENSMUSG00000059409
AA Change: S81P
| 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 |
0.1967 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
98% (48/49) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933411K16Rik |
A |
T |
19: 42,041,484 (GRCm39) |
H205L |
probably benign |
Het |
| Acss2 |
T |
C |
2: 155,403,073 (GRCm39) |
L617S |
probably damaging |
Het |
| Adgrl4 |
T |
C |
3: 151,197,971 (GRCm39) |
V77A |
probably benign |
Het |
| Adnp2 |
A |
G |
18: 80,171,479 (GRCm39) |
S977P |
probably benign |
Het |
| Ankrd11 |
T |
C |
8: 123,619,377 (GRCm39) |
K1492E |
possibly damaging |
Het |
| B4galt5 |
G |
A |
2: 167,148,549 (GRCm39) |
R190C |
probably damaging |
Het |
| Bbs1 |
A |
G |
19: 4,947,354 (GRCm39) |
V355A |
possibly damaging |
Het |
| Cenpj |
GTTTT |
GTTTTT |
14: 56,790,978 (GRCm39) |
|
probably null |
Het |
| Ckap2 |
T |
C |
8: 22,665,063 (GRCm39) |
E467G |
probably damaging |
Het |
| Cry1 |
A |
T |
10: 84,982,280 (GRCm39) |
H355Q |
probably damaging |
Het |
| Cspg4 |
G |
T |
9: 56,793,082 (GRCm39) |
M272I |
probably benign |
Het |
| Dicer1 |
T |
A |
12: 104,671,387 (GRCm39) |
Y961F |
probably damaging |
Het |
| Epha2 |
A |
T |
4: 141,049,382 (GRCm39) |
M689L |
probably benign |
Het |
| Foxc1 |
C |
T |
13: 31,991,471 (GRCm39) |
A94V |
probably benign |
Het |
| Fras1 |
T |
C |
5: 96,929,596 (GRCm39) |
V4000A |
possibly damaging |
Het |
| Frmd8 |
G |
T |
19: 5,923,396 (GRCm39) |
|
probably benign |
Het |
| Gm5218 |
A |
G |
15: 81,383,478 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7735 |
T |
C |
16: 88,966,430 (GRCm39) |
L18P |
unknown |
Het |
| Hr |
C |
T |
14: 70,803,616 (GRCm39) |
T808I |
probably benign |
Het |
| Hyal6 |
T |
C |
6: 24,743,690 (GRCm39) |
M462T |
probably benign |
Het |
| Igkv6-20 |
T |
A |
6: 70,313,412 (GRCm39) |
|
probably benign |
Het |
| Igkv8-27 |
T |
A |
6: 70,148,918 (GRCm39) |
T59S |
probably benign |
Het |
| Itga11 |
A |
G |
9: 62,659,531 (GRCm39) |
T428A |
probably benign |
Het |
| Klk1b16 |
A |
G |
7: 43,788,913 (GRCm39) |
I49V |
probably benign |
Het |
| Matn2 |
G |
T |
15: 34,399,237 (GRCm39) |
E375* |
probably null |
Het |
| Msgn1 |
T |
C |
12: 11,258,519 (GRCm39) |
Y144C |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,099,782 (GRCm39) |
N564S |
probably benign |
Het |
| Mypn |
A |
G |
10: 62,963,555 (GRCm39) |
V972A |
probably damaging |
Het |
| Or4c29 |
T |
C |
2: 88,740,366 (GRCm39) |
I124V |
possibly damaging |
Het |
| Or5an11 |
A |
G |
19: 12,246,520 (GRCm39) |
K309E |
probably benign |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Ptgis |
C |
T |
2: 167,050,284 (GRCm39) |
|
probably benign |
Het |
| Ptprr |
A |
G |
10: 115,884,018 (GRCm39) |
N25S |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,944,623 (GRCm39) |
T456I |
probably damaging |
Het |
| Rpl6l |
T |
C |
10: 110,961,884 (GRCm39) |
|
noncoding transcript |
Het |
| Rps25 |
A |
G |
9: 44,320,047 (GRCm39) |
Y23C |
probably benign |
Het |
| Sec24a |
A |
G |
11: 51,598,037 (GRCm39) |
V879A |
probably benign |
Het |
| Sema6a |
G |
A |
18: 47,382,330 (GRCm39) |
A739V |
probably benign |
Het |
| Senp6 |
A |
T |
9: 79,999,594 (GRCm39) |
I4F |
probably damaging |
Het |
| Slc49a4 |
A |
G |
16: 35,539,799 (GRCm39) |
F341L |
probably benign |
Het |
| Stoml3 |
A |
T |
3: 53,412,937 (GRCm39) |
Q197L |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,578,091 (GRCm39) |
K24267N |
probably damaging |
Het |
| Vmn1r43 |
T |
C |
6: 89,846,905 (GRCm39) |
S194G |
probably damaging |
Het |
| Vmn2r17 |
C |
T |
5: 109,575,140 (GRCm39) |
T149I |
possibly damaging |
Het |
| Wdr72 |
T |
A |
9: 74,055,487 (GRCm39) |
Y239N |
probably damaging |
Het |
| Zfp423 |
A |
T |
8: 88,413,187 (GRCm39) |
|
probably null |
Het |
| Zfp759 |
T |
A |
13: 67,286,772 (GRCm39) |
C114S |
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 |
|
|
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 |
|
R4261:Ppp2r5d
|
UTSW |
17 |
46,998,007 (GRCm39) |
nonsense |
probably null |
|
|
R5577:Ppp2r5d
|
UTSW |
17 |
46,998,901 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- CTCAACAGTCAGGTGCATGTC -3'
(R):5'- AAGAGCTGGCTTCAACGAATTAC -3'
Sequencing Primer
(F):5'- CAACAGTCAGGTGCATGTCTTAATTG -3'
(R):5'- CAACGAATTACTTTTATGCCCAGGC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation