Incidental Mutation 'R6491:Ppp2r5d'
| ID |
522903 |
| 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 |
044623-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R6491 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
46993917-47015952 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46996509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 388
(F388S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002839]
[ENSMUST00000002845]
[ENSMUST00000071841]
[ENSMUST00000165007]
|
| AlphaFold |
Q7TNL5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002839
AA Change: F388S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002839
Gene: ENSMUSG00000059409
AA Change: F388S
| 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 |
probably benign
Transcript: ENSMUST00000071841
|
| SMART Domains |
Protein: ENSMUSP00000071743
Gene: ENSMUSG00000063576
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Kelch_1
|
13 |
63 |
1.6e-8 |
PFAM |
|
Pfam:Kelch_2
|
13 |
63 |
2.2e-9 |
PFAM |
|
Pfam:Kelch_4
|
13 |
65 |
3.8e-8 |
PFAM |
|
Pfam:Kelch_6
|
13 |
67 |
9.6e-11 |
PFAM |
|
Pfam:Kelch_5
|
73 |
113 |
3.1e-8 |
PFAM |
|
Pfam:Kelch_1
|
76 |
117 |
1.9e-7 |
PFAM |
|
Pfam:Kelch_6
|
76 |
121 |
1.7e-9 |
PFAM |
|
Pfam:Kelch_2
|
77 |
121 |
2.1e-8 |
PFAM |
|
Pfam:Kelch_4
|
77 |
125 |
4.6e-11 |
PFAM |
|
Pfam:Kelch_3
|
86 |
136 |
1.3e-12 |
PFAM |
|
Pfam:Kelch_1
|
127 |
172 |
1.5e-10 |
PFAM |
|
Pfam:Kelch_6
|
127 |
173 |
2e-10 |
PFAM |
|
Pfam:Kelch_2
|
127 |
174 |
4.7e-14 |
PFAM |
|
Pfam:Kelch_4
|
127 |
177 |
1.3e-10 |
PFAM |
|
Pfam:Kelch_2
|
179 |
231 |
2.4e-8 |
PFAM |
|
Pfam:Kelch_1
|
180 |
233 |
5.8e-9 |
PFAM |
|
Pfam:Kelch_3
|
189 |
247 |
7.3e-8 |
PFAM |
|
Pfam:Kelch_5
|
235 |
276 |
1.2e-11 |
PFAM |
|
Pfam:Kelch_1
|
238 |
284 |
2.7e-8 |
PFAM |
|
Pfam:Kelch_6
|
238 |
293 |
2.4e-12 |
PFAM |
|
Pfam:Kelch_3
|
248 |
299 |
4.2e-10 |
PFAM |
|
low complexity region
|
322 |
333 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165007
|
| SMART Domains |
Protein: ENSMUSP00000128271
Gene: ENSMUSG00000063576
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Kelch_1
|
13 |
63 |
9.9e-10 |
PFAM |
|
Pfam:Kelch_2
|
13 |
63 |
2.2e-9 |
PFAM |
|
Pfam:Kelch_6
|
13 |
66 |
7.5e-11 |
PFAM |
|
Pfam:Kelch_4
|
13 |
71 |
1.4e-8 |
PFAM |
|
Pfam:Kelch_5
|
73 |
113 |
3e-8 |
PFAM |
|
Pfam:Kelch_1
|
76 |
118 |
2.6e-8 |
PFAM |
|
Pfam:Kelch_6
|
76 |
121 |
1.1e-10 |
PFAM |
|
Pfam:Kelch_4
|
76 |
126 |
2e-11 |
PFAM |
|
Pfam:Kelch_2
|
77 |
121 |
2.1e-8 |
PFAM |
|
Pfam:Kelch_3
|
86 |
136 |
7.7e-12 |
PFAM |
|
Pfam:Kelch_1
|
127 |
170 |
1.2e-8 |
PFAM |
|
Pfam:Kelch_2
|
127 |
174 |
4.7e-14 |
PFAM |
|
Pfam:Kelch_4
|
127 |
177 |
1.7e-7 |
PFAM |
|
Pfam:Kelch_2
|
179 |
231 |
2.4e-8 |
PFAM |
|
Pfam:Kelch_6
|
179 |
239 |
2.5e-9 |
PFAM |
|
Pfam:Kelch_1
|
180 |
232 |
3.4e-8 |
PFAM |
|
Pfam:Kelch_3
|
189 |
247 |
5.7e-8 |
PFAM |
|
Pfam:Kelch_5
|
235 |
276 |
4.3e-10 |
PFAM |
|
Pfam:Kelch_1
|
238 |
285 |
9.3e-10 |
PFAM |
|
Pfam:Kelch_4
|
238 |
291 |
9.9e-8 |
PFAM |
|
Pfam:Kelch_6
|
238 |
293 |
2.5e-12 |
PFAM |
|
Pfam:Kelch_3
|
248 |
299 |
1.1e-9 |
PFAM |
|
low complexity region
|
322 |
333 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181301
|
| Meta Mutation Damage Score |
0.9752 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (35/35) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
C |
13: 119,612,508 (GRCm39) |
L431P |
probably damaging |
Het |
| Acad10 |
A |
C |
5: 121,768,220 (GRCm39) |
W779G |
probably damaging |
Het |
| Acrbp |
A |
G |
6: 125,028,442 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
G |
A |
10: 69,827,459 (GRCm39) |
A565T |
probably benign |
Het |
| Ap2a1 |
A |
T |
7: 44,565,588 (GRCm39) |
I93K |
probably damaging |
Het |
| Arnt |
T |
A |
3: 95,383,454 (GRCm39) |
M240K |
probably damaging |
Het |
| Ceacam12 |
A |
T |
7: 17,803,185 (GRCm39) |
K197M |
probably damaging |
Het |
| Cep41 |
T |
C |
6: 30,656,483 (GRCm39) |
N323S |
probably benign |
Het |
| Dst |
A |
G |
1: 34,232,093 (GRCm39) |
T2904A |
probably benign |
Het |
| Eml1 |
G |
A |
12: 108,479,330 (GRCm39) |
|
probably null |
Het |
| Fbln2 |
A |
G |
6: 91,236,732 (GRCm39) |
N749S |
possibly damaging |
Het |
| Irf2bpl |
A |
G |
12: 86,930,238 (GRCm39) |
V145A |
probably benign |
Het |
| Itga2b |
T |
C |
11: 102,350,695 (GRCm39) |
|
probably null |
Het |
| Itga8 |
T |
C |
2: 12,209,587 (GRCm39) |
D466G |
probably damaging |
Het |
| Kdm4c |
G |
T |
4: 74,291,873 (GRCm39) |
C830F |
probably damaging |
Het |
| Mrps27 |
T |
C |
13: 99,499,538 (GRCm39) |
S73P |
probably damaging |
Het |
| Mtdh |
T |
G |
15: 34,116,473 (GRCm39) |
N17K |
probably damaging |
Het |
| Muc3a |
A |
G |
5: 137,246,591 (GRCm39) |
S9P |
probably benign |
Het |
| Or8b46 |
A |
G |
9: 38,558,751 (GRCm39) |
L23P |
probably damaging |
Het |
| Oxgr1 |
T |
A |
14: 120,259,419 (GRCm39) |
I263F |
probably benign |
Het |
| Phc1 |
A |
G |
6: 122,311,923 (GRCm39) |
|
|
Het |
| Pxmp4 |
A |
G |
2: 154,434,083 (GRCm39) |
|
probably null |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Ror1 |
A |
G |
4: 100,267,109 (GRCm39) |
N270S |
possibly damaging |
Het |
| Slc7a14 |
T |
C |
3: 31,278,093 (GRCm39) |
Y504C |
probably damaging |
Het |
| Snx9 |
A |
G |
17: 5,970,437 (GRCm39) |
D391G |
probably benign |
Het |
| St18 |
T |
A |
1: 6,898,209 (GRCm39) |
Y670* |
probably null |
Het |
| Tjp1 |
A |
T |
7: 64,986,865 (GRCm39) |
F207I |
possibly damaging |
Het |
| Trappc3 |
A |
G |
4: 126,169,022 (GRCm39) |
I171V |
probably benign |
Het |
| Ugt2b5 |
A |
T |
5: 87,273,328 (GRCm39) |
L446* |
probably null |
Het |
| Vmn2r105 |
A |
T |
17: 20,447,992 (GRCm39) |
Y277* |
probably null |
Het |
| Vmn2r11 |
A |
T |
5: 109,196,800 (GRCm39) |
N557K |
possibly damaging |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zfp938 |
A |
G |
10: 82,063,363 (GRCm39) |
*65Q |
probably null |
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 |
|
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 |
|
|
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'- CTCATTGTTCCAGTAGTAGAGGGC -3'
(R):5'- TCCAAGCCAGAGAAGCCATG -3'
Sequencing Primer
(F):5'- AGTAGTAGAGGGCGCGCTC -3'
(R):5'- CCATGCAGTGGCTGAGGGTAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation