Incidental Mutation 'R0665:Ppp2r5d'
| ID |
61997 |
| 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 |
038850-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
R0665 (G1)
|
| Quality Score |
149 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
46993917-47015952 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 46997330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 287
(N287K)
|
| 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: N287K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002839
Gene: ENSMUSG00000059409
AA Change: N287K
| 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 |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl2 |
A |
G |
2: 90,631,554 (GRCm39) |
Y304C |
probably damaging |
Het |
| B3galt2 |
T |
C |
1: 143,522,191 (GRCm39) |
V109A |
possibly damaging |
Het |
| Chml |
T |
A |
1: 175,515,461 (GRCm39) |
E153D |
probably benign |
Het |
| Dap3 |
A |
T |
3: 88,838,304 (GRCm39) |
C78* |
probably null |
Het |
| Dnah8 |
T |
C |
17: 30,955,129 (GRCm39) |
F2053L |
probably damaging |
Het |
| Dppa3 |
A |
G |
6: 122,606,939 (GRCm39) |
E143G |
probably damaging |
Het |
| Espnl |
T |
G |
1: 91,262,409 (GRCm39) |
|
probably null |
Het |
| Fat3 |
C |
T |
9: 15,908,698 (GRCm39) |
A2435T |
probably benign |
Het |
| Flnc |
G |
A |
6: 29,455,530 (GRCm39) |
V2027M |
probably damaging |
Het |
| Gtf2h2 |
C |
T |
13: 100,617,562 (GRCm39) |
G200E |
probably damaging |
Het |
| Gtpbp1 |
A |
G |
15: 79,597,648 (GRCm39) |
I348V |
probably benign |
Het |
| Kansl1 |
A |
G |
11: 104,234,364 (GRCm39) |
V714A |
probably benign |
Het |
| Kcnk10 |
T |
C |
12: 98,406,944 (GRCm39) |
I251V |
probably benign |
Het |
| Kri1 |
G |
A |
9: 21,192,936 (GRCm39) |
|
probably benign |
Het |
| Lcmt1 |
G |
A |
7: 123,002,094 (GRCm39) |
D120N |
probably damaging |
Het |
| Myom3 |
A |
G |
4: 135,492,237 (GRCm39) |
D127G |
possibly damaging |
Het |
| Or12e1 |
A |
G |
2: 87,022,652 (GRCm39) |
Y207C |
probably damaging |
Het |
| Or1j4 |
T |
C |
2: 36,740,202 (GRCm39) |
L48P |
probably damaging |
Het |
| Or5w13 |
C |
T |
2: 87,524,152 (GRCm39) |
V25I |
probably benign |
Het |
| Phyhd1 |
A |
G |
2: 30,171,040 (GRCm39) |
H241R |
probably damaging |
Het |
| Ralgds |
A |
G |
2: 28,435,218 (GRCm39) |
H458R |
probably damaging |
Het |
| Scn3a |
C |
A |
2: 65,314,755 (GRCm39) |
R1102L |
probably null |
Het |
| Sdhc |
T |
C |
1: 170,963,626 (GRCm39) |
Y80C |
probably damaging |
Het |
| Smarca4 |
CGAGGAGGAGGAGGAGG |
CGAGGAGGAGGAGG |
9: 21,612,239 (GRCm39) |
|
probably benign |
Het |
| Tgfbr3 |
A |
T |
5: 107,325,716 (GRCm39) |
H115Q |
probably benign |
Het |
| Triobp |
T |
C |
15: 78,858,098 (GRCm39) |
L1233P |
possibly damaging |
Het |
| Trpc6 |
A |
C |
9: 8,634,123 (GRCm39) |
T401P |
probably benign |
Het |
| Ttc5 |
T |
A |
14: 51,003,415 (GRCm39) |
Q423L |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCTCAGTGACAGACGAGATCC -3'
(R):5'- CAACCACATCTTCTACAGGTGAGGC -3'
Sequencing Primer
(F):5'- TCTATGCTGATGCAGGAACC -3'
(R):5'- CTTCTACAGGTGAGGCCATGAG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation