Incidental Mutation 'R0719:Ppp1r9b'
ID |
63798 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp1r9b
|
Ensembl Gene |
ENSMUSG00000038976 |
Gene Name |
protein phosphatase 1, regulatory subunit 9B |
Synonyms |
neurabin II, Spn, SPL, spinophilin |
MMRRC Submission |
038901-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0719 (G1)
|
Quality Score |
120 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
94882038-94897724 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 94892661 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103377
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038696]
[ENSMUST00000107748]
|
AlphaFold |
Q6R891 |
Predicted Effect |
probably null
Transcript: ENSMUST00000038696
|
SMART Domains |
Protein: ENSMUSP00000041732 Gene: ENSMUSG00000038976
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 null
Transcript: ENSMUST00000107748
|
SMART Domains |
Protein: ENSMUSP00000103377 Gene: ENSMUSG00000038976
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 |
noncoding transcript
Transcript: ENSMUST00000151771
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.4%
|
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: 10 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Clk4 |
T |
A |
11: 51,166,320 (GRCm39) |
Y67* |
probably null |
Het |
Eif1 |
T |
A |
11: 100,211,856 (GRCm39) |
I93K |
possibly damaging |
Het |
Glmp |
G |
T |
3: 88,233,452 (GRCm39) |
E136* |
probably null |
Het |
Hgs |
T |
C |
11: 120,362,431 (GRCm39) |
|
probably null |
Het |
Iqcg |
T |
C |
16: 32,861,215 (GRCm39) |
D167G |
probably benign |
Het |
Or1ad6 |
T |
A |
11: 50,860,761 (GRCm39) |
C305* |
probably null |
Het |
Pik3c2g |
G |
A |
6: 139,606,723 (GRCm39) |
E257K |
probably damaging |
Het |
Rock1 |
T |
C |
18: 10,099,328 (GRCm39) |
H691R |
probably damaging |
Het |
Sgce |
T |
A |
6: 4,689,753 (GRCm39) |
H360L |
probably damaging |
Het |
Susd1 |
T |
A |
4: 59,329,506 (GRCm39) |
N641I |
possibly damaging |
Het |
|
Other mutations in Ppp1r9b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01714:Ppp1r9b
|
APN |
11 |
94,896,180 (GRCm39) |
missense |
probably damaging |
0.96 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTCCTCAAGGAAGCCGAGTTATG -3'
(R):5'- TGGATTTCCGCTTCAGTGACAGC -3'
Sequencing Primer
(F):5'- AGCCGAGTTATGGAGGAAAC -3'
(R):5'- CATGCTTGATCTGGAGCTGC -3'
|
Posted On |
2013-07-30 |