Incidental Mutation 'R3435:Ppp2r2b'
| ID |
267170 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp2r2b
|
| Ensembl Gene |
ENSMUSG00000024500 |
| Gene Name |
protein phosphatase 2, regulatory subunit B, beta |
| Synonyms |
PP2A-PR55B, SCA12, PR55-BETA, 6330404L05Rik, 2900026H06Rik, E130009M08Rik |
| MMRRC Submission |
040653-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3435 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
42777811-43192827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 42874174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 52
(Q52L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113411
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025377]
[ENSMUST00000117687]
[ENSMUST00000120632]
|
| AlphaFold |
Q6ZWR4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025377
AA Change: Q55L
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000025377
Gene: ENSMUSG00000024500
AA Change: Q55L
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
14 |
55 |
6.42e-1 |
SMART |
|
WD40
|
82 |
122 |
3.7e0 |
SMART |
|
WD40
|
164 |
203 |
1.66e0 |
SMART |
|
WD40
|
214 |
254 |
1.38e1 |
SMART |
|
WD40
|
273 |
311 |
5.7e1 |
SMART |
|
Blast:WD40
|
315 |
369 |
6e-26 |
BLAST |
|
WD40
|
405 |
442 |
1.33e1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117687
AA Change: Q52L
PolyPhen 2
Score 0.477 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113731
Gene: ENSMUSG00000024500
AA Change: Q52L
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
13 |
52 |
1.92e0 |
SMART |
|
WD40
|
79 |
119 |
3.7e0 |
SMART |
|
WD40
|
161 |
200 |
1.66e0 |
SMART |
|
WD40
|
211 |
251 |
1.38e1 |
SMART |
|
WD40
|
270 |
308 |
5.7e1 |
SMART |
|
Blast:WD40
|
312 |
366 |
4e-26 |
BLAST |
|
WD40
|
402 |
439 |
1.33e1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120632
AA Change: Q52L
PolyPhen 2
Score 0.477 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113411
Gene: ENSMUSG00000024500
AA Change: Q52L
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
13 |
52 |
1.92e0 |
SMART |
|
WD40
|
79 |
119 |
3.7e0 |
SMART |
|
WD40
|
161 |
200 |
1.66e0 |
SMART |
|
WD40
|
211 |
251 |
1.38e1 |
SMART |
|
WD40
|
270 |
308 |
5.7e1 |
SMART |
|
Blast:WD40
|
312 |
366 |
4e-26 |
BLAST |
|
WD40
|
402 |
439 |
1.33e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136118
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153737
|
| Meta Mutation Damage Score |
0.4773 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (33/33) |
| 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 2 regulatory subunit B family. Protein phosphatase 2 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 beta isoform of the regulatory subunit B55 subfamily. Defects in this gene cause autosomal dominant spinocerebellar ataxia 12 (SCA12), a disease caused by degeneration of the cerebellum, sometimes involving the brainstem and spinal cord, and in resulting in poor coordination of speech and body movements. Multiple alternatively spliced variants, which encode different isoforms, have been identified for this gene. The 5' UTR of some of these variants includes a CAG trinucleotide repeat sequence (7-28 copies) that can be expanded to 55-78 copies in cases of SCA12. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
C |
2: 68,432,189 (GRCm39) |
D91A |
unknown |
Het |
| Abca9 |
T |
C |
11: 110,045,256 (GRCm39) |
E359G |
probably benign |
Het |
| Atp7a |
G |
A |
X: 105,138,463 (GRCm39) |
R563K |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,038,631 (GRCm39) |
D150G |
probably damaging |
Het |
| Fam47e |
T |
A |
5: 92,733,221 (GRCm39) |
V152D |
probably damaging |
Het |
| Gm19965 |
C |
A |
1: 116,749,353 (GRCm39) |
H345N |
possibly damaging |
Het |
| Ift74 |
A |
G |
4: 94,510,089 (GRCm39) |
|
probably null |
Het |
| Iqgap3 |
A |
G |
3: 88,001,911 (GRCm39) |
I384V |
probably benign |
Het |
| Lrrc57 |
T |
A |
2: 120,439,862 (GRCm39) |
|
probably benign |
Het |
| Mafk |
C |
T |
5: 139,786,062 (GRCm39) |
Q87* |
probably null |
Het |
| Mast2 |
A |
T |
4: 116,165,292 (GRCm39) |
S1314T |
probably benign |
Het |
| Mast4 |
A |
G |
13: 102,923,887 (GRCm39) |
I508T |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,733,726 (GRCm39) |
|
probably null |
Het |
| Mup6 |
G |
T |
4: 60,004,116 (GRCm39) |
|
probably null |
Het |
| Neurl1a |
T |
C |
19: 47,245,964 (GRCm39) |
V532A |
probably damaging |
Het |
| Nod2 |
A |
G |
8: 89,390,637 (GRCm39) |
R293G |
possibly damaging |
Het |
| Notch3 |
A |
T |
17: 32,377,592 (GRCm39) |
D161E |
possibly damaging |
Het |
| Or1j1 |
T |
A |
2: 36,702,690 (GRCm39) |
Q138L |
probably benign |
Het |
| Osbpl3 |
A |
T |
6: 50,325,050 (GRCm39) |
N149K |
possibly damaging |
Het |
| P2rx4 |
T |
A |
5: 122,863,133 (GRCm39) |
I202K |
probably damaging |
Het |
| Pbxip1 |
T |
C |
3: 89,354,543 (GRCm39) |
L354P |
probably damaging |
Het |
| Pld1 |
A |
T |
3: 28,178,772 (GRCm39) |
M889L |
probably benign |
Het |
| Prob1 |
T |
C |
18: 35,787,294 (GRCm39) |
E320G |
possibly damaging |
Het |
| Stard13 |
A |
T |
5: 150,965,644 (GRCm39) |
L937Q |
probably damaging |
Het |
| Strn4 |
T |
C |
7: 16,571,558 (GRCm39) |
S563P |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,298,565 (GRCm39) |
D1114G |
probably damaging |
Het |
| Tmem117 |
T |
C |
15: 94,992,573 (GRCm39) |
I411T |
probably damaging |
Het |
| Tmx3 |
T |
A |
18: 90,546,028 (GRCm39) |
V203E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,709,062 (GRCm39) |
|
probably benign |
Het |
| Vmn1r209 |
A |
T |
13: 22,990,267 (GRCm39) |
M141K |
probably benign |
Het |
|
| Other mutations in Ppp2r2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00825:Ppp2r2b
|
APN |
18 |
42,778,840 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01999:Ppp2r2b
|
APN |
18 |
42,778,788 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02610:Ppp2r2b
|
APN |
18 |
42,781,840 (GRCm39) |
splice site |
probably benign |
|
|
IGL02733:Ppp2r2b
|
APN |
18 |
42,781,793 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02899:Ppp2r2b
|
APN |
18 |
42,778,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Degradation
|
UTSW |
18 |
42,821,403 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0737:Ppp2r2b
|
UTSW |
18 |
43,192,257 (GRCm39) |
missense |
probably benign |
|
|
R1459:Ppp2r2b
|
UTSW |
18 |
42,871,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1616:Ppp2r2b
|
UTSW |
18 |
42,821,375 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1635:Ppp2r2b
|
UTSW |
18 |
43,192,275 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4204:Ppp2r2b
|
UTSW |
18 |
42,871,115 (GRCm39) |
missense |
probably benign |
|
|
R4301:Ppp2r2b
|
UTSW |
18 |
43,031,811 (GRCm39) |
missense |
probably null |
|
|
R5062:Ppp2r2b
|
UTSW |
18 |
42,821,526 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5147:Ppp2r2b
|
UTSW |
18 |
42,778,942 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5207:Ppp2r2b
|
UTSW |
18 |
42,821,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5277:Ppp2r2b
|
UTSW |
18 |
42,874,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6004:Ppp2r2b
|
UTSW |
18 |
43,192,224 (GRCm39) |
splice site |
probably null |
|
|
R6528:Ppp2r2b
|
UTSW |
18 |
42,821,403 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6735:Ppp2r2b
|
UTSW |
18 |
42,821,653 (GRCm39) |
splice site |
probably null |
|
|
R7521:Ppp2r2b
|
UTSW |
18 |
43,192,242 (GRCm39) |
missense |
probably benign |
|
|
R7831:Ppp2r2b
|
UTSW |
18 |
42,834,597 (GRCm39) |
missense |
probably benign |
|
|
R8405:Ppp2r2b
|
UTSW |
18 |
42,778,805 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8486:Ppp2r2b
|
UTSW |
18 |
43,031,869 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8906:Ppp2r2b
|
UTSW |
18 |
42,821,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8998:Ppp2r2b
|
UTSW |
18 |
42,870,993 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8999:Ppp2r2b
|
UTSW |
18 |
42,870,993 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9081:Ppp2r2b
|
UTSW |
18 |
42,781,825 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9201:Ppp2r2b
|
UTSW |
18 |
42,871,101 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9303:Ppp2r2b
|
UTSW |
18 |
42,779,025 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9305:Ppp2r2b
|
UTSW |
18 |
42,779,025 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Z1177:Ppp2r2b
|
UTSW |
18 |
42,821,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ppp2r2b
|
UTSW |
18 |
42,781,758 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTAGTAGGATAAGGCCCTGC -3'
(R):5'- AGCCCTAAGCCCTTAAATGC -3'
Sequencing Primer
(F):5'- GCTTTTGTGAGCTTGAACTTAGAAC -3'
(R):5'- GCCCTTAAATGCACAGAAAAGTG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation