Incidental Mutation 'R5504:Ppp2r1b'
| ID |
430834 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp2r1b
|
| Ensembl Gene |
ENSMUSG00000032058 |
| Gene Name |
protein phosphatase 2, regulatory subunit A, beta |
| Synonyms |
2410091N08Rik |
| MMRRC Submission |
043065-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.572)
|
| Stock # |
R5504 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
50767946-50810625 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 50770187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 81
(L81R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034560]
[ENSMUST00000114437]
[ENSMUST00000174628]
[ENSMUST00000175640]
[ENSMUST00000175645]
[ENSMUST00000175926]
[ENSMUST00000176798]
[ENSMUST00000176349]
|
| AlphaFold |
Q7TNP2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034560
AA Change: L81R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034560
Gene: ENSMUSG00000032058
AA Change: L81R
| 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 damaging
Transcript: ENSMUST00000114437
AA Change: L81R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110080
Gene: ENSMUSG00000032058
AA Change: L81R
| 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 |
noncoding transcript
Transcript: ENSMUST00000174555
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174628
AA Change: L81R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133404
Gene: ENSMUSG00000032058
AA Change: L81R
| 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: L81R
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000134740
Gene: ENSMUSG00000032058
AA Change: L81R
| 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 damaging
Transcript: ENSMUST00000175645
AA Change: L81R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135871
Gene: ENSMUSG00000032058
AA Change: L81R
| 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 damaging
Transcript: ENSMUST00000175926
AA Change: L81R
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000134886
Gene: ENSMUSG00000032058
AA Change: L81R
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1b3ua_
|
14 |
104 |
4e-15 |
SMART |
|
PDB:3DW8|D
|
22 |
104 |
4e-45 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176798
AA Change: L81R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135525
Gene: ENSMUSG00000032058
AA Change: L81R
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176349
|
| SMART Domains |
Protein: ENSMUSP00000135758
Gene: ENSMUSG00000032058
| 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 |
|
| Meta Mutation Damage Score |
0.9271 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.6%
|
| Validation Efficiency |
99% (69/70) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
C |
T |
8: 44,078,319 (GRCm39) |
C635Y |
probably damaging |
Het |
| Akr1b7 |
A |
G |
6: 34,396,453 (GRCm39) |
|
probably null |
Het |
| Amy2a1 |
T |
G |
3: 113,325,318 (GRCm39) |
D92A |
probably benign |
Het |
| Angel2 |
A |
G |
1: 190,676,083 (GRCm39) |
T455A |
probably damaging |
Het |
| Angptl2 |
T |
C |
2: 33,119,050 (GRCm39) |
|
probably benign |
Het |
| Ankrd40 |
A |
G |
11: 94,219,153 (GRCm39) |
E25G |
probably benign |
Het |
| Asb18 |
T |
A |
1: 89,920,746 (GRCm39) |
D136V |
probably damaging |
Het |
| Asphd1 |
T |
C |
7: 126,545,350 (GRCm39) |
I336V |
possibly damaging |
Het |
| Birc6 |
C |
T |
17: 74,962,208 (GRCm39) |
P58S |
probably damaging |
Het |
| Bsx |
A |
T |
9: 40,785,460 (GRCm39) |
|
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,488,843 (GRCm39) |
L1965P |
probably benign |
Het |
| Capza3 |
A |
T |
6: 139,988,165 (GRCm39) |
I255L |
probably benign |
Het |
| Ccdc185 |
G |
T |
1: 182,575,192 (GRCm39) |
A499E |
probably damaging |
Het |
| Cfhr4 |
A |
T |
1: 139,629,558 (GRCm39) |
S749T |
probably benign |
Het |
| Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
| Colgalt2 |
G |
A |
1: 152,276,054 (GRCm39) |
V56M |
possibly damaging |
Het |
| Dennd1b |
A |
T |
1: 139,018,246 (GRCm39) |
T197S |
probably benign |
Het |
| Dhx30 |
A |
G |
9: 109,914,278 (GRCm39) |
Y1000H |
probably benign |
Het |
| Dlg2 |
C |
T |
7: 92,091,865 (GRCm39) |
A910V |
probably damaging |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Dock5 |
T |
C |
14: 68,040,535 (GRCm39) |
D884G |
probably benign |
Het |
| Fhad1 |
A |
G |
4: 141,712,846 (GRCm39) |
S198P |
probably benign |
Het |
| Gabpa |
T |
C |
16: 84,649,446 (GRCm39) |
S218P |
probably benign |
Het |
| Gm17654 |
A |
T |
14: 43,815,494 (GRCm39) |
N104K |
unknown |
Het |
| Gm4775 |
T |
C |
14: 106,338,389 (GRCm39) |
|
noncoding transcript |
Het |
| Gvin3 |
T |
A |
7: 106,201,951 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr1 |
T |
A |
13: 12,421,500 (GRCm39) |
S467T |
possibly damaging |
Het |
| Hecw1 |
A |
G |
13: 14,515,487 (GRCm39) |
M215T |
probably benign |
Het |
| Hmgn2 |
A |
T |
4: 133,694,114 (GRCm39) |
|
probably benign |
Het |
| Kncn |
T |
A |
4: 115,742,062 (GRCm39) |
I43N |
possibly damaging |
Het |
| Lgals3bp |
G |
T |
11: 118,284,811 (GRCm39) |
T256N |
probably benign |
Het |
| Mpi |
T |
C |
9: 57,452,500 (GRCm39) |
D344G |
probably damaging |
Het |
| Myom2 |
G |
A |
8: 15,178,879 (GRCm39) |
E1304K |
probably damaging |
Het |
| Npat |
T |
A |
9: 53,481,564 (GRCm39) |
F1091I |
probably benign |
Het |
| Nrcam |
T |
G |
12: 44,610,915 (GRCm39) |
|
probably null |
Het |
| Or2a7 |
T |
A |
6: 43,151,572 (GRCm39) |
Y217* |
probably null |
Het |
| Or4c114 |
C |
T |
2: 88,905,024 (GRCm39) |
R137Q |
probably benign |
Het |
| Or56a4 |
T |
C |
7: 104,806,383 (GRCm39) |
K169E |
probably benign |
Het |
| Pappa2 |
A |
G |
1: 158,675,615 (GRCm39) |
S1044P |
probably benign |
Het |
| Pcnx4 |
T |
C |
12: 72,621,222 (GRCm39) |
L1014S |
probably damaging |
Het |
| Pear1 |
G |
A |
3: 87,660,002 (GRCm39) |
|
probably benign |
Het |
| Piwil2 |
T |
A |
14: 70,627,348 (GRCm39) |
Y797F |
probably benign |
Het |
| Pxdn |
C |
A |
12: 30,052,800 (GRCm39) |
H812Q |
probably damaging |
Het |
| Rad21l |
A |
T |
2: 151,510,357 (GRCm39) |
F33I |
probably damaging |
Het |
| Rgs13 |
A |
T |
1: 144,015,358 (GRCm39) |
C120S |
possibly damaging |
Het |
| Rp1 |
G |
A |
1: 4,420,113 (GRCm39) |
T333M |
probably damaging |
Het |
| Sema6d |
T |
A |
2: 124,499,941 (GRCm39) |
V339E |
probably damaging |
Het |
| Serpina3i |
T |
A |
12: 104,232,862 (GRCm39) |
Y256N |
probably damaging |
Het |
| Slc13a1 |
A |
T |
6: 24,150,743 (GRCm39) |
M65K |
possibly damaging |
Het |
| Slco6d1 |
A |
G |
1: 98,349,064 (GRCm39) |
K45R |
probably damaging |
Het |
| Src |
T |
C |
2: 157,306,641 (GRCm39) |
Y215H |
probably damaging |
Het |
| Synj2 |
T |
C |
17: 6,086,750 (GRCm39) |
V384A |
possibly damaging |
Het |
| Tmeff1 |
T |
C |
4: 48,650,396 (GRCm39) |
S285P |
probably damaging |
Het |
| Vmn2r125 |
A |
G |
4: 156,703,456 (GRCm39) |
D278G |
possibly damaging |
Het |
| Vmn2r45 |
T |
C |
7: 8,486,176 (GRCm39) |
K371E |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,218,341 (GRCm39) |
H426Q |
probably benign |
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 |
|
R5376:Ppp2r1b
|
UTSW |
9 |
50,778,228 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
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'- TGAAACATTCAGGAAGACTTGTGG -3'
(R):5'- GCCCATAAGAAGTCTGCATAAAATG -3'
Sequencing Primer
(F):5'- AAGAGAGGCCCCTTGATCTTG -3'
(R):5'- AATGCTGCAATGTGCCTATCAC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation