Incidental Mutation 'IGL01714:Ppp1r9b'
| ID |
104893 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppp1r9b
|
| Ensembl Gene |
ENSMUSG00000038976 |
| Gene Name |
protein phosphatase 1, regulatory subunit 9B |
| Synonyms |
neurabin II, Spn, SPL, spinophilin |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01714
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
94882038-94897724 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 94896180 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 817
(T817N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038696]
[ENSMUST00000055947]
[ENSMUST00000107748]
[ENSMUST00000124735]
|
| AlphaFold |
Q6R891 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038696
AA Change: T817N
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000041732
Gene: ENSMUSG00000038976
AA Change: T817N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
64 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
126 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
226 |
237 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
281 |
317 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
399 |
430 |
N/A |
INTRINSIC |
|
Blast:PDZ
|
431 |
458 |
4e-10 |
BLAST |
|
PDZ
|
504 |
584 |
7.03e-19 |
SMART |
|
low complexity region
|
600 |
612 |
N/A |
INTRINSIC |
|
Blast:PDZ
|
731 |
768 |
2e-10 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055947
|
| SMART Domains |
Protein: ENSMUSP00000062231
Gene: ENSMUSG00000047181
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
138 |
153 |
N/A |
INTRINSIC |
|
low complexity region
|
244 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
289 |
N/A |
INTRINSIC |
|
SAM
|
323 |
389 |
7.96e-12 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107748
AA Change: T393N
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103377
Gene: ENSMUSG00000038976
AA Change: T393N
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
80 |
160 |
7.03e-19 |
SMART |
|
low complexity region
|
176 |
188 |
N/A |
INTRINSIC |
|
Blast:PDZ
|
307 |
344 |
4e-10 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124735
|
| SMART Domains |
Protein: ENSMUSP00000123361
Gene: ENSMUSG00000047181
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jj2w_
|
21 |
62 |
1e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128512
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151771
|
| 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 scaffold protein that functions as a regulatory subunit of protein phosphatase 1a. Expression of this gene is particularly high in dendritic spines, suggesting that the encoded protein may play a role in receiving signals from the central nervous system. The encoded protein has putative tumor suppressor function and decreased expression has been observed in tumors. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit abnormal glutamatergic synaptic transmission, reduced long-term depression, resistance to kainate-induced seizures, impaired taste aversion learning, and increased dendritic spine density. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
T |
C |
8: 73,209,413 (GRCm39) |
|
probably null |
Het |
| Acvrl1 |
T |
A |
15: 101,035,251 (GRCm39) |
I259N |
probably damaging |
Het |
| Ahctf1 |
A |
G |
1: 179,623,442 (GRCm39) |
S59P |
probably damaging |
Het |
| Bcas1 |
T |
C |
2: 170,226,102 (GRCm39) |
|
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 57,937,153 (GRCm39) |
N682S |
possibly damaging |
Het |
| Celf1 |
T |
C |
2: 90,839,552 (GRCm39) |
S326P |
possibly damaging |
Het |
| Cntn1 |
T |
A |
15: 92,151,870 (GRCm39) |
C436* |
probably null |
Het |
| Cyp2d40 |
T |
G |
15: 82,645,441 (GRCm39) |
D142A |
possibly damaging |
Het |
| Dennd2b |
A |
G |
7: 109,169,269 (GRCm39) |
S9P |
probably damaging |
Het |
| Dnhd1 |
C |
T |
7: 105,370,149 (GRCm39) |
L4525F |
probably damaging |
Het |
| Drosha |
A |
G |
15: 12,878,870 (GRCm39) |
Y732C |
probably damaging |
Het |
| Edn1 |
A |
G |
13: 42,458,490 (GRCm39) |
N101S |
probably benign |
Het |
| Faxc |
C |
T |
4: 21,936,688 (GRCm39) |
P108S |
probably damaging |
Het |
| Glb1l2 |
C |
T |
9: 26,679,714 (GRCm39) |
|
probably null |
Het |
| Gm4952 |
G |
T |
19: 12,602,075 (GRCm39) |
R161L |
probably benign |
Het |
| Hipk2 |
A |
T |
6: 38,796,117 (GRCm39) |
Y51N |
probably damaging |
Het |
| Id4 |
T |
G |
13: 48,415,266 (GRCm39) |
I98S |
probably damaging |
Het |
| Klf6 |
T |
C |
13: 5,916,658 (GRCm39) |
S268P |
probably benign |
Het |
| Kmt2c |
G |
T |
5: 25,518,398 (GRCm39) |
T2427N |
probably benign |
Het |
| Lrp3 |
T |
G |
7: 34,905,496 (GRCm39) |
|
probably null |
Het |
| Lrrc66 |
A |
G |
5: 73,787,320 (GRCm39) |
I10T |
probably benign |
Het |
| Mapkap1 |
T |
G |
2: 34,408,855 (GRCm39) |
V281G |
probably damaging |
Het |
| Ncor1 |
T |
A |
11: 62,225,410 (GRCm39) |
I1054F |
possibly damaging |
Het |
| Or8k25 |
T |
C |
2: 86,244,144 (GRCm39) |
N84S |
probably benign |
Het |
| Prkd2 |
T |
A |
7: 16,597,867 (GRCm39) |
I659N |
probably damaging |
Het |
| Radil |
T |
C |
5: 142,529,152 (GRCm39) |
|
probably benign |
Het |
| S2bpcox16 |
A |
G |
12: 81,557,664 (GRCm39) |
I47T |
probably damaging |
Het |
| Smarcd1 |
C |
T |
15: 99,610,302 (GRCm39) |
T474I |
probably damaging |
Het |
| Srd5a1 |
C |
T |
13: 69,759,181 (GRCm39) |
W62* |
probably null |
Het |
| St6galnac2 |
C |
T |
11: 116,575,945 (GRCm39) |
D169N |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,687,523 (GRCm39) |
|
probably benign |
Het |
| Vmn1r77 |
A |
T |
7: 11,775,277 (GRCm39) |
I18F |
probably benign |
Het |
| Xrcc5 |
A |
T |
1: 72,369,143 (GRCm39) |
K332N |
probably damaging |
Het |
|
| Other mutations in Ppp1r9b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02261:Ppp1r9b
|
APN |
11 |
94,892,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0068:Ppp1r9b
|
UTSW |
11 |
94,892,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0719:Ppp1r9b
|
UTSW |
11 |
94,892,661 (GRCm39) |
splice site |
probably null |
|
|
R1185:Ppp1r9b
|
UTSW |
11 |
94,892,812 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1185:Ppp1r9b
|
UTSW |
11 |
94,892,812 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1185:Ppp1r9b
|
UTSW |
11 |
94,892,812 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1385:Ppp1r9b
|
UTSW |
11 |
94,883,037 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1639:Ppp1r9b
|
UTSW |
11 |
94,887,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1642:Ppp1r9b
|
UTSW |
11 |
94,892,150 (GRCm39) |
synonymous |
silent |
|
|
R2000:Ppp1r9b
|
UTSW |
11 |
94,887,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2162:Ppp1r9b
|
UTSW |
11 |
94,888,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2332:Ppp1r9b
|
UTSW |
11 |
94,887,435 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3815:Ppp1r9b
|
UTSW |
11 |
94,883,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4426:Ppp1r9b
|
UTSW |
11 |
94,892,150 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4427:Ppp1r9b
|
UTSW |
11 |
94,892,150 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5121:Ppp1r9b
|
UTSW |
11 |
94,887,479 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5205:Ppp1r9b
|
UTSW |
11 |
94,892,124 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5348:Ppp1r9b
|
UTSW |
11 |
94,887,438 (GRCm39) |
nonsense |
probably null |
|
|
R5397:Ppp1r9b
|
UTSW |
11 |
94,892,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5399:Ppp1r9b
|
UTSW |
11 |
94,882,974 (GRCm39) |
missense |
probably benign |
|
|
R6188:Ppp1r9b
|
UTSW |
11 |
94,882,662 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6860:Ppp1r9b
|
UTSW |
11 |
94,882,974 (GRCm39) |
missense |
probably benign |
|
|
R7308:Ppp1r9b
|
UTSW |
11 |
94,895,397 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7357:Ppp1r9b
|
UTSW |
11 |
94,895,424 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7479:Ppp1r9b
|
UTSW |
11 |
94,882,858 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7587:Ppp1r9b
|
UTSW |
11 |
94,892,766 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7651:Ppp1r9b
|
UTSW |
11 |
94,892,768 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7871:Ppp1r9b
|
UTSW |
11 |
94,892,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8692:Ppp1r9b
|
UTSW |
11 |
94,891,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8964:Ppp1r9b
|
UTSW |
11 |
94,882,705 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9009:Ppp1r9b
|
UTSW |
11 |
94,887,467 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9059:Ppp1r9b
|
UTSW |
11 |
94,883,254 (GRCm39) |
missense |
probably benign |
0.28 |
|
| Posted On |
2014-01-21 |
Incidental Mutation