Incidental Mutation 'IGL01622:Ppp2r1b'
ID |
278618 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ppp2r1b
|
Ensembl Gene |
ENSMUSG00000032058 |
Gene Name |
protein phosphatase 2, regulatory subunit A, beta |
Synonyms |
2410091N08Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.567)
|
Stock # |
IGL01622
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
50767946-50810625 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 50789422 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 495
(V495D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135525
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034560]
[ENSMUST00000114437]
[ENSMUST00000174628]
[ENSMUST00000175640]
[ENSMUST00000175645]
[ENSMUST00000175926]
[ENSMUST00000176798]
[ENSMUST00000176349]
[ENSMUST00000176055]
|
AlphaFold |
Q7TNP2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034560
AA Change: V495D
PolyPhen 2
Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000034560 Gene: ENSMUSG00000032058 AA Change: V495D
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 |
possibly damaging
Transcript: ENSMUST00000114437
AA Change: V495D
PolyPhen 2
Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000110080 Gene: ENSMUSG00000032058 AA Change: V495D
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 |
possibly damaging
Transcript: ENSMUST00000174628
AA Change: V495D
PolyPhen 2
Score 0.706 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000133404 Gene: ENSMUSG00000032058 AA Change: V495D
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 |
probably damaging
Transcript: ENSMUST00000175640
AA Change: V368D
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000134740 Gene: ENSMUSG00000032058 AA Change: V368D
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 |
possibly damaging
Transcript: ENSMUST00000175645
AA Change: V450D
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000135871 Gene: ENSMUSG00000032058 AA Change: V450D
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 damaging
Transcript: ENSMUST00000176798
AA Change: V495D
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000135525 Gene: ENSMUSG00000032058 AA Change: V495D
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 damaging
Transcript: ENSMUST00000176349
AA Change: V431D
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000135758 Gene: ENSMUSG00000032058 AA Change: V431D
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 |
noncoding transcript
Transcript: ENSMUST00000177454
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176414
|
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 |
|
Coding Region Coverage |
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930596D02Rik |
G |
A |
14: 35,532,024 (GRCm39) |
Q184* |
probably null |
Het |
A1bg |
A |
C |
15: 60,789,742 (GRCm39) |
I502S |
possibly damaging |
Het |
Actl11 |
T |
C |
9: 107,805,775 (GRCm39) |
S33P |
probably benign |
Het |
Aftph |
G |
T |
11: 20,659,632 (GRCm39) |
D730E |
probably damaging |
Het |
Arhgap29 |
A |
G |
3: 121,767,773 (GRCm39) |
|
probably benign |
Het |
Brf1 |
T |
G |
12: 112,924,795 (GRCm39) |
E643A |
probably benign |
Het |
Caskin1 |
G |
T |
17: 24,722,914 (GRCm39) |
|
probably null |
Het |
Ccnjl |
T |
C |
11: 43,476,154 (GRCm39) |
V259A |
probably benign |
Het |
Ccser2 |
G |
T |
14: 36,662,920 (GRCm39) |
T88K |
probably benign |
Het |
Cdk17 |
T |
C |
10: 93,074,824 (GRCm39) |
|
probably benign |
Het |
Clec16a |
G |
A |
16: 10,395,774 (GRCm39) |
S309N |
possibly damaging |
Het |
Cpxm1 |
C |
A |
2: 130,233,191 (GRCm39) |
A633S |
probably benign |
Het |
Ctnnbl1 |
A |
T |
2: 157,661,468 (GRCm39) |
N326I |
probably damaging |
Het |
Cyp46a1 |
T |
C |
12: 108,318,234 (GRCm39) |
V215A |
possibly damaging |
Het |
Daxx |
A |
G |
17: 34,132,454 (GRCm39) |
D528G |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,121,701 (GRCm39) |
Y1427C |
probably damaging |
Het |
Dpy19l3 |
G |
A |
7: 35,422,169 (GRCm39) |
T228I |
probably damaging |
Het |
Fam131c |
C |
T |
4: 141,109,761 (GRCm39) |
A131V |
possibly damaging |
Het |
Fat1 |
A |
G |
8: 45,482,592 (GRCm39) |
T3061A |
possibly damaging |
Het |
Fgl2 |
T |
A |
5: 21,578,175 (GRCm39) |
L154H |
possibly damaging |
Het |
Fhod3 |
T |
A |
18: 25,155,924 (GRCm39) |
I514K |
probably benign |
Het |
Ficd |
G |
A |
5: 113,876,622 (GRCm39) |
G266S |
probably damaging |
Het |
Frem3 |
A |
G |
8: 81,340,544 (GRCm39) |
T946A |
probably benign |
Het |
Gan |
T |
A |
8: 117,913,917 (GRCm39) |
V105D |
probably damaging |
Het |
Garin5b |
A |
G |
7: 4,761,722 (GRCm39) |
V330A |
probably benign |
Het |
Gramd1c |
A |
G |
16: 43,811,061 (GRCm39) |
V221A |
probably damaging |
Het |
Hacd1 |
A |
G |
2: 14,040,667 (GRCm39) |
V196A |
probably benign |
Het |
Kcna6 |
C |
A |
6: 126,715,576 (GRCm39) |
V438L |
probably damaging |
Het |
Kif14 |
T |
C |
1: 136,425,094 (GRCm39) |
|
probably benign |
Het |
Klhl41 |
T |
C |
2: 69,508,582 (GRCm39) |
V512A |
probably benign |
Het |
Lrfn1 |
A |
G |
7: 28,166,111 (GRCm39) |
T502A |
probably damaging |
Het |
Notch3 |
A |
T |
17: 32,377,844 (GRCm39) |
F105I |
possibly damaging |
Het |
Or4b13 |
T |
G |
2: 90,082,953 (GRCm39) |
K126N |
probably damaging |
Het |
Or5m10 |
A |
T |
2: 85,717,306 (GRCm39) |
H54L |
probably benign |
Het |
P3h1 |
C |
T |
4: 119,092,480 (GRCm39) |
T171I |
probably damaging |
Het |
Pcdhb1 |
A |
G |
18: 37,399,366 (GRCm39) |
E439G |
possibly damaging |
Het |
Pik3c3 |
A |
T |
18: 30,423,578 (GRCm39) |
K225* |
probably null |
Het |
Pik3c3 |
A |
G |
18: 30,426,102 (GRCm39) |
|
probably benign |
Het |
Pik3r5 |
T |
A |
11: 68,377,452 (GRCm39) |
|
probably null |
Het |
Pnpt1 |
A |
C |
11: 29,098,272 (GRCm39) |
|
probably benign |
Het |
Rbfox3 |
C |
A |
11: 118,396,440 (GRCm39) |
|
probably benign |
Het |
Sec14l2 |
G |
A |
11: 4,053,966 (GRCm39) |
P234S |
possibly damaging |
Het |
Sec16a |
A |
C |
2: 26,328,915 (GRCm39) |
D1033E |
probably benign |
Het |
Septin14 |
A |
G |
5: 129,763,019 (GRCm39) |
V357A |
probably damaging |
Het |
Sf3a3 |
C |
T |
4: 124,612,136 (GRCm39) |
T131I |
possibly damaging |
Het |
Snrpa |
A |
T |
7: 26,892,395 (GRCm39) |
M55K |
probably benign |
Het |
Swt1 |
G |
T |
1: 151,286,760 (GRCm39) |
T244N |
probably benign |
Het |
Tbl1xr1 |
A |
G |
3: 22,246,238 (GRCm39) |
T253A |
probably benign |
Het |
Tst |
G |
T |
15: 78,283,964 (GRCm39) |
R288S |
probably benign |
Het |
Vmn2r60 |
A |
G |
7: 41,785,910 (GRCm39) |
I238V |
probably benign |
Het |
Zbtb14 |
A |
G |
17: 69,695,184 (GRCm39) |
K294R |
probably benign |
Het |
Zfp710 |
T |
A |
7: 79,730,871 (GRCm39) |
V16E |
probably damaging |
Het |
Zfpm2 |
A |
G |
15: 40,965,320 (GRCm39) |
T602A |
probably benign |
Het |
Zfr2 |
G |
A |
10: 81,087,193 (GRCm39) |
M850I |
probably benign |
Het |
|
Other mutations in Ppp2r1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
|
Posted On |
2015-04-16 |