Incidental Mutation 'IGL02158:Ppp2r1b'
| ID |
282315 |
| 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: 0.572)
|
| Stock # |
IGL02158
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
50767946-50810625 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 50772909 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 65
(Q65K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034560]
[ENSMUST00000114437]
[ENSMUST00000174628]
[ENSMUST00000175640]
[ENSMUST00000175645]
[ENSMUST00000175926]
[ENSMUST00000176798]
[ENSMUST00000176349]
|
| AlphaFold |
Q7TNP2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034560
AA Change: Q129K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000034560
Gene: ENSMUSG00000032058
AA Change: Q129K
| 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: Q129K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110080
Gene: ENSMUSG00000032058
AA Change: Q129K
| 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 benign
Transcript: ENSMUST00000174628
AA Change: Q129K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000133404
Gene: ENSMUSG00000032058
AA Change: Q129K
| 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 benign
Transcript: ENSMUST00000175640
|
| SMART Domains |
Protein: ENSMUSP00000134740
Gene: ENSMUSG00000032058
| 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: Q129K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135871
Gene: ENSMUSG00000032058
AA Change: Q129K
| 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: ENSMUST00000176798
AA Change: Q129K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135525
Gene: ENSMUSG00000032058
AA Change: Q129K
| 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
AA Change: Q65K
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000135758
Gene: ENSMUSG00000032058
AA Change: Q65K
| 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 |
|
| 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 |
|---|
| 1700017B05Rik |
A |
T |
9: 57,163,902 (GRCm39) |
|
probably null |
Het |
| Abca2 |
A |
G |
2: 25,337,891 (GRCm39) |
|
probably benign |
Het |
| Abcb11 |
A |
T |
2: 69,130,269 (GRCm39) |
S262R |
probably damaging |
Het |
| Abhd12 |
T |
A |
2: 150,690,341 (GRCm39) |
Q118L |
probably benign |
Het |
| Adam1a |
A |
T |
5: 121,657,034 (GRCm39) |
L753* |
probably null |
Het |
| Ahctf1 |
A |
T |
1: 179,607,217 (GRCm39) |
I699N |
possibly damaging |
Het |
| Arl11 |
C |
A |
14: 61,548,487 (GRCm39) |
A99E |
probably damaging |
Het |
| Atp5po |
G |
A |
16: 91,727,289 (GRCm39) |
R16W |
probably damaging |
Het |
| AW551984 |
T |
C |
9: 39,510,621 (GRCm39) |
H238R |
probably null |
Het |
| Bpifb9a |
C |
A |
2: 154,108,733 (GRCm39) |
|
probably benign |
Het |
| Carhsp1 |
A |
G |
16: 8,481,577 (GRCm39) |
|
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 57,937,702 (GRCm39) |
D623G |
probably damaging |
Het |
| Chd6 |
C |
A |
2: 160,868,212 (GRCm39) |
R378L |
possibly damaging |
Het |
| Chn2 |
T |
C |
6: 54,277,230 (GRCm39) |
|
probably benign |
Het |
| Clgn |
T |
G |
8: 84,149,765 (GRCm39) |
I422S |
probably damaging |
Het |
| Col15a1 |
T |
A |
4: 47,300,606 (GRCm39) |
|
probably null |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp2c39 |
T |
C |
19: 39,556,574 (GRCm39) |
I470T |
probably benign |
Het |
| Dcaf11 |
T |
A |
14: 55,801,980 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
G |
T |
14: 31,022,924 (GRCm39) |
T1071K |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,348,949 (GRCm39) |
M2513L |
probably benign |
Het |
| Dqx1 |
A |
G |
6: 83,035,891 (GRCm39) |
|
probably benign |
Het |
| Gm1587 |
T |
C |
14: 78,036,282 (GRCm39) |
E8G |
unknown |
Het |
| Hydin |
T |
C |
8: 111,336,598 (GRCm39) |
I5125T |
possibly damaging |
Het |
| Ighv5-9 |
G |
T |
12: 113,625,563 (GRCm39) |
P60Q |
probably damaging |
Het |
| Itga7 |
T |
G |
10: 128,789,651 (GRCm39) |
L993R |
possibly damaging |
Het |
| Itpr3 |
A |
G |
17: 27,317,416 (GRCm39) |
N857S |
probably damaging |
Het |
| Krt23 |
C |
T |
11: 99,383,490 (GRCm39) |
|
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,390,140 (GRCm39) |
N3093S |
probably benign |
Het |
| Mms22l |
T |
C |
4: 24,505,349 (GRCm39) |
F203S |
probably damaging |
Het |
| Morn5 |
A |
G |
2: 35,947,088 (GRCm39) |
D122G |
probably damaging |
Het |
| Mpp2 |
G |
T |
11: 101,954,088 (GRCm39) |
L220I |
probably benign |
Het |
| Mrgpra6 |
A |
T |
7: 46,835,700 (GRCm39) |
Y240* |
probably null |
Het |
| Mtmr12 |
T |
C |
15: 12,238,016 (GRCm39) |
I165T |
probably damaging |
Het |
| Mylk2 |
C |
A |
2: 152,761,077 (GRCm39) |
N428K |
probably damaging |
Het |
| Nfil3 |
A |
G |
13: 53,122,188 (GRCm39) |
Y239H |
probably damaging |
Het |
| Notch1 |
A |
G |
2: 26,350,351 (GRCm39) |
L2263P |
probably damaging |
Het |
| Or2g7 |
T |
A |
17: 38,378,158 (GRCm39) |
I32N |
probably damaging |
Het |
| Or8b101 |
A |
G |
9: 38,020,425 (GRCm39) |
M148V |
probably benign |
Het |
| P3h3 |
A |
T |
6: 124,830,055 (GRCm39) |
Y387N |
probably damaging |
Het |
| Pdcd6ip |
A |
T |
9: 113,509,121 (GRCm39) |
Y324* |
probably null |
Het |
| Plcb2 |
C |
A |
2: 118,541,844 (GRCm39) |
R922L |
probably benign |
Het |
| Pml |
T |
C |
9: 58,154,286 (GRCm39) |
T196A |
probably benign |
Het |
| Ric8a |
A |
G |
7: 140,442,270 (GRCm39) |
T507A |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,306,644 (GRCm39) |
|
probably null |
Het |
| Slc46a3 |
G |
T |
5: 147,823,044 (GRCm39) |
T266N |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,812,169 (GRCm39) |
S41P |
possibly damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,079,403 (GRCm39) |
N1837K |
probably benign |
Het |
| Sptan1 |
A |
G |
2: 29,920,336 (GRCm39) |
T2318A |
probably damaging |
Het |
| St7l |
C |
T |
3: 104,782,148 (GRCm39) |
T175I |
possibly damaging |
Het |
| Tmc7 |
G |
A |
7: 118,137,434 (GRCm39) |
R703C |
probably damaging |
Het |
| Urah |
A |
G |
7: 140,416,799 (GRCm39) |
|
probably benign |
Het |
| Vmn1r42 |
A |
T |
6: 89,822,296 (GRCm39) |
I91N |
probably damaging |
Het |
| Yy1 |
T |
A |
12: 108,780,525 (GRCm39) |
|
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 |
|
|
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 |
Incidental Mutation