Incidental Mutation 'R5376:Ppp2r1b'
| ID |
425565 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp2r1b
|
| Ensembl Gene |
ENSMUSG00000032058 |
| Gene Name |
protein phosphatase 2, regulatory subunit A, beta |
| Synonyms |
2410091N08Rik |
| MMRRC Submission |
042952-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.567)
|
| Stock # |
R5376 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
50767946-50810625 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 50778228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 315
(A315V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034560]
[ENSMUST00000114437]
[ENSMUST00000174628]
[ENSMUST00000175640]
[ENSMUST00000175645]
[ENSMUST00000175926]
[ENSMUST00000176055]
[ENSMUST00000176349]
[ENSMUST00000176798]
|
| AlphaFold |
Q7TNP2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034560
AA Change: A315V
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000034560
Gene: ENSMUSG00000032058
AA Change: A315V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
Pfam:HEAT
|
178 |
208 |
2.2e-6 |
PFAM |
|
Pfam:HEAT_EZ
|
182 |
243 |
9.9e-6 |
PFAM |
|
Pfam:HEAT
|
295 |
325 |
5.9e-6 |
PFAM |
|
Pfam:HEAT_2
|
378 |
479 |
1.1e-10 |
PFAM |
|
Pfam:HEAT_2
|
495 |
596 |
5.1e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114437
AA Change: A315V
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000110080
Gene: ENSMUSG00000032058
AA Change: A315V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
Pfam:HEAT
|
178 |
208 |
1.6e-6 |
PFAM |
|
Pfam:HEAT_EZ
|
180 |
243 |
7.3e-6 |
PFAM |
|
Pfam:HEAT
|
217 |
247 |
4.3e-5 |
PFAM |
|
Pfam:HEAT
|
295 |
325 |
4.2e-6 |
PFAM |
|
Pfam:HEAT_2
|
378 |
479 |
9e-11 |
PFAM |
|
Pfam:HEAT_2
|
494 |
597 |
4.2e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174628
AA Change: A315V
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000133404
Gene: ENSMUSG00000032058
AA Change: A315V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
Pfam:HEAT
|
178 |
208 |
4.6e-6 |
PFAM |
|
Pfam:HEAT
|
217 |
247 |
4.5e-5 |
PFAM |
|
Pfam:HEAT
|
295 |
325 |
4.3e-6 |
PFAM |
|
Pfam:HEAT_2
|
378 |
479 |
1.7e-11 |
PFAM |
|
low complexity region
|
643 |
655 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000175640
AA Change: A188V
PolyPhen 2
Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134740
Gene: ENSMUSG00000032058
AA Change: A188V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
Pfam:HEAT
|
129 |
159 |
5.7e-5 |
PFAM |
|
Pfam:HEAT
|
168 |
198 |
4e-6 |
PFAM |
|
Pfam:HEAT_2
|
251 |
352 |
6.3e-11 |
PFAM |
|
Pfam:HEAT_2
|
365 |
470 |
3e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175645
AA Change: A315V
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000135871
Gene: ENSMUSG00000032058
AA Change: A315V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
Pfam:HEAT_EZ
|
173 |
243 |
8e-6 |
PFAM |
|
Pfam:HEAT
|
178 |
208 |
1.8e-6 |
PFAM |
|
Pfam:HEAT
|
217 |
247 |
4.9e-5 |
PFAM |
|
Pfam:HEAT
|
295 |
325 |
4.8e-6 |
PFAM |
|
Pfam:HEAT_2
|
449 |
552 |
3.9e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175926
|
| SMART Domains |
Protein: ENSMUSP00000134886
Gene: ENSMUSG00000032058
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1b3ua_
|
14 |
104 |
4e-15 |
SMART |
|
PDB:3DW8|D
|
22 |
104 |
4e-45 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176055
|
| SMART Domains |
Protein: ENSMUSP00000135253
Gene: ENSMUSG00000032058
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3DW8|D
|
1 |
51 |
1e-26 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176349
AA Change: A251V
PolyPhen 2
Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000135758
Gene: ENSMUSG00000032058
AA Change: A251V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
Pfam:HEAT
|
114 |
144 |
2e-6 |
PFAM |
|
Pfam:HEAT_EZ
|
116 |
179 |
8.7e-6 |
PFAM |
|
Pfam:HEAT
|
153 |
183 |
5.5e-5 |
PFAM |
|
Pfam:HEAT
|
231 |
261 |
5.3e-6 |
PFAM |
|
Pfam:HEAT_2
|
314 |
415 |
9.3e-11 |
PFAM |
|
Pfam:HEAT_2
|
430 |
532 |
4.4e-8 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176798
AA Change: A315V
PolyPhen 2
Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135525
Gene: ENSMUSG00000032058
AA Change: A315V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
Pfam:HEAT
|
178 |
208 |
2.3e-6 |
PFAM |
|
Pfam:HEAT_EZ
|
182 |
243 |
1e-5 |
PFAM |
|
Pfam:HEAT
|
295 |
325 |
6e-6 |
PFAM |
|
Pfam:HEAT_2
|
378 |
479 |
1.1e-10 |
PFAM |
|
Pfam:HEAT_2
|
495 |
596 |
5.2e-8 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a constant regulatory subunit of protein phosphatase 2. 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 constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes a beta isoform of the constant regulatory subunit A. Mutations in this gene have been associated with some lung and colon cancers. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]
|
| Allele List at MGI |
All alleles(3) : Targeted(2) Gene trapped(1)
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
G |
C |
11: 119,902,860 (GRCm39) |
S512W |
probably damaging |
Het |
| Abcc2 |
A |
T |
19: 43,818,339 (GRCm39) |
N1275I |
possibly damaging |
Het |
| Adgb |
T |
C |
10: 10,222,307 (GRCm39) |
T1455A |
probably benign |
Het |
| Cnnm3 |
T |
A |
1: 36,559,759 (GRCm39) |
L566H |
probably damaging |
Het |
| Coa8 |
A |
G |
12: 111,696,492 (GRCm39) |
D142G |
probably damaging |
Het |
| Dennd4b |
C |
T |
3: 90,185,363 (GRCm39) |
P1229L |
probably benign |
Het |
| Dsc1 |
T |
G |
18: 20,221,503 (GRCm39) |
K657N |
probably benign |
Het |
| Dzip1 |
C |
T |
14: 119,148,805 (GRCm39) |
M291I |
probably damaging |
Het |
| Eef1d |
G |
T |
15: 75,775,038 (GRCm39) |
T207N |
probably benign |
Het |
| Eif4g1 |
T |
A |
16: 20,502,577 (GRCm39) |
Y955N |
probably damaging |
Het |
| Evi5l |
T |
C |
8: 4,260,770 (GRCm39) |
T1016A |
probably damaging |
Het |
| Fcrl6 |
G |
A |
1: 172,426,847 (GRCm39) |
T33M |
probably damaging |
Het |
| Golga3 |
T |
C |
5: 110,368,811 (GRCm39) |
|
probably null |
Het |
| Gpbp1 |
T |
C |
13: 111,563,176 (GRCm39) |
N425D |
probably damaging |
Het |
| Igkv12-46 |
A |
C |
6: 69,741,520 (GRCm39) |
W112G |
probably benign |
Het |
| Kdelr3 |
T |
A |
15: 79,410,061 (GRCm39) |
V182E |
possibly damaging |
Het |
| Kif15 |
T |
A |
9: 122,823,036 (GRCm39) |
N700K |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,479,868 (GRCm39) |
L1169* |
probably null |
Het |
| Myof |
A |
G |
19: 37,904,848 (GRCm39) |
Y905H |
probably damaging |
Het |
| Or10h1b |
A |
T |
17: 33,395,621 (GRCm39) |
I82F |
probably damaging |
Het |
| Or52e5 |
A |
T |
7: 104,719,564 (GRCm39) |
T297S |
probably damaging |
Het |
| Or5b113 |
A |
T |
19: 13,342,762 (GRCm39) |
M257L |
possibly damaging |
Het |
| Otud7b |
T |
A |
3: 96,060,841 (GRCm39) |
|
probably null |
Het |
| Pde4d |
T |
C |
13: 109,909,178 (GRCm39) |
C197R |
probably benign |
Het |
| Pde8b |
T |
C |
13: 95,162,654 (GRCm39) |
T823A |
probably benign |
Het |
| Plekha5 |
C |
T |
6: 140,496,870 (GRCm39) |
T140M |
probably damaging |
Het |
| Plekhg2 |
G |
A |
7: 28,062,094 (GRCm39) |
R594W |
probably damaging |
Het |
| Potefam1 |
T |
C |
2: 111,045,944 (GRCm39) |
D286G |
probably benign |
Het |
| Psg25 |
A |
T |
7: 18,260,460 (GRCm39) |
I146N |
probably benign |
Het |
| Psg26 |
A |
T |
7: 18,214,030 (GRCm39) |
S211T |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGT |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
| Slc5a9 |
A |
T |
4: 111,750,414 (GRCm39) |
V148E |
possibly damaging |
Het |
| Spmip9 |
C |
A |
6: 70,890,466 (GRCm39) |
A109S |
possibly damaging |
Het |
| Txndc15 |
T |
G |
13: 55,866,032 (GRCm39) |
N165K |
probably damaging |
Het |
| Zfp493 |
T |
C |
13: 67,934,437 (GRCm39) |
I130T |
possibly damaging |
Het |
|
| Other mutations in Ppp2r1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01622:Ppp2r1b
|
APN |
9 |
50,789,422 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01623:Ppp2r1b
|
APN |
9 |
50,789,422 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02120:Ppp2r1b
|
APN |
9 |
50,773,069 (GRCm39) |
splice site |
probably benign |
|
|
IGL02158:Ppp2r1b
|
APN |
9 |
50,772,909 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02706:Ppp2r1b
|
APN |
9 |
50,790,134 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02801:Ppp2r1b
|
APN |
9 |
50,790,127 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02943:Ppp2r1b
|
APN |
9 |
50,794,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0047:Ppp2r1b
|
UTSW |
9 |
50,772,873 (GRCm39) |
nonsense |
probably null |
|
|
R0047:Ppp2r1b
|
UTSW |
9 |
50,772,873 (GRCm39) |
nonsense |
probably null |
|
|
R0211:Ppp2r1b
|
UTSW |
9 |
50,772,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0603:Ppp2r1b
|
UTSW |
9 |
50,772,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1219:Ppp2r1b
|
UTSW |
9 |
50,778,621 (GRCm39) |
splice site |
probably benign |
|
|
R1513:Ppp2r1b
|
UTSW |
9 |
50,781,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1545:Ppp2r1b
|
UTSW |
9 |
50,773,725 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1997:Ppp2r1b
|
UTSW |
9 |
50,778,671 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1998:Ppp2r1b
|
UTSW |
9 |
50,794,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2153:Ppp2r1b
|
UTSW |
9 |
50,777,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3829:Ppp2r1b
|
UTSW |
9 |
50,773,794 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4672:Ppp2r1b
|
UTSW |
9 |
50,779,019 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5299:Ppp2r1b
|
UTSW |
9 |
50,768,340 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5504:Ppp2r1b
|
UTSW |
9 |
50,770,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5700:Ppp2r1b
|
UTSW |
9 |
50,789,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5771:Ppp2r1b
|
UTSW |
9 |
50,778,132 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7547:Ppp2r1b
|
UTSW |
9 |
50,773,762 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7626:Ppp2r1b
|
UTSW |
9 |
50,789,476 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8498:Ppp2r1b
|
UTSW |
9 |
50,778,194 (GRCm39) |
nonsense |
probably null |
|
|
R9096:Ppp2r1b
|
UTSW |
9 |
50,777,856 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9201:Ppp2r1b
|
UTSW |
9 |
50,789,447 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1088:Ppp2r1b
|
UTSW |
9 |
50,778,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ppp2r1b
|
UTSW |
9 |
50,784,945 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGAGAGCCTGCTTAATCTTTCC -3'
(R):5'- CCGTCTGCAGCATCTTATAAATC -3'
Sequencing Primer
(F):5'- CAGCATGCTTTTGATGATTGTAC -3'
(R):5'- TCTGCAGCATCTTATAAATCAAAACC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation