Incidental Mutation 'R4427:Ppp1r9b'
| ID |
328245 |
| 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 |
041145-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4427 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
94882038-94897724 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94892150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 188
(R188S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038696]
[ENSMUST00000107748]
|
| AlphaFold |
Q6R891 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038696
AA Change: R612S
PolyPhen 2
Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000041732
Gene: ENSMUSG00000038976
AA Change: R612S
| 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 |
possibly damaging
Transcript: ENSMUST00000107748
AA Change: R188S
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103377
Gene: ENSMUSG00000038976
AA Change: R188S
| 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
|
| Meta Mutation Damage Score |
0.0609 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
96% (48/50) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
T |
7: 29,278,678 (GRCm39) |
|
noncoding transcript |
Het |
| A2ml1 |
T |
C |
6: 128,522,009 (GRCm39) |
E1271G |
probably benign |
Het |
| Ccdc88b |
C |
T |
19: 6,827,940 (GRCm39) |
E878K |
probably damaging |
Het |
| Cfap119 |
A |
G |
7: 127,187,288 (GRCm39) |
|
probably benign |
Het |
| Crybg3 |
T |
C |
16: 59,363,562 (GRCm39) |
K2441E |
probably damaging |
Het |
| Cryga |
A |
T |
1: 65,139,775 (GRCm39) |
I121N |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,220,541 (GRCm39) |
Q2115L |
probably benign |
Het |
| Evi2 |
T |
A |
11: 79,407,182 (GRCm39) |
Q131L |
possibly damaging |
Het |
| Exoc1 |
A |
G |
5: 76,711,110 (GRCm39) |
I61V |
probably benign |
Het |
| Firrm |
A |
G |
1: 163,781,853 (GRCm39) |
V858A |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,446,583 (GRCm39) |
|
probably null |
Het |
| Gas2l1 |
A |
G |
11: 5,013,908 (GRCm39) |
V184A |
probably benign |
Het |
| Gsto2 |
T |
C |
19: 47,860,212 (GRCm39) |
S2P |
possibly damaging |
Het |
| Herc1 |
T |
C |
9: 66,403,287 (GRCm39) |
L4402P |
probably damaging |
Het |
| Kcnd2 |
T |
A |
6: 21,216,896 (GRCm39) |
I200N |
probably damaging |
Het |
| Klhl30 |
A |
G |
1: 91,281,426 (GRCm39) |
D9G |
probably damaging |
Het |
| Ltf |
C |
A |
9: 110,852,672 (GRCm39) |
T178K |
probably damaging |
Het |
| Memo1 |
T |
A |
17: 74,509,302 (GRCm39) |
Y239F |
probably benign |
Het |
| Ogdh |
C |
T |
11: 6,305,421 (GRCm39) |
T972I |
probably benign |
Het |
| Phactr4 |
T |
C |
4: 132,114,352 (GRCm39) |
D24G |
possibly damaging |
Het |
| Pi4ka |
C |
T |
16: 17,098,908 (GRCm39) |
R1992H |
probably damaging |
Het |
| Poc1b |
T |
C |
10: 98,991,001 (GRCm39) |
|
probably null |
Het |
| Pwwp2a |
T |
C |
11: 43,573,344 (GRCm39) |
V142A |
possibly damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Rcsd1 |
C |
A |
1: 165,483,464 (GRCm39) |
V206L |
probably damaging |
Het |
| Rps6ka2 |
T |
A |
17: 7,566,804 (GRCm39) |
D687E |
possibly damaging |
Het |
| Sgce |
G |
A |
6: 4,691,459 (GRCm39) |
A295V |
probably damaging |
Het |
| Siglec15 |
T |
G |
18: 78,086,836 (GRCm39) |
E341A |
possibly damaging |
Het |
| Tcaim |
T |
C |
9: 122,643,561 (GRCm39) |
F87S |
probably benign |
Het |
| Thbs2 |
C |
A |
17: 14,900,597 (GRCm39) |
V537L |
probably benign |
Het |
| Timd6 |
T |
A |
11: 46,475,247 (GRCm39) |
F147L |
probably benign |
Het |
| Tmx3 |
T |
A |
18: 90,541,725 (GRCm39) |
V158D |
probably damaging |
Het |
| Tpm1 |
A |
G |
9: 66,939,847 (GRCm39) |
|
probably benign |
Het |
| Trmt2a |
A |
G |
16: 18,067,093 (GRCm39) |
|
probably benign |
Het |
| Ugcg |
T |
A |
4: 59,219,555 (GRCm39) |
F297L |
probably benign |
Het |
| Utp18 |
T |
C |
11: 93,757,264 (GRCm39) |
N467D |
probably damaging |
Het |
| Vmn2r73 |
A |
G |
7: 85,506,981 (GRCm39) |
F777S |
probably damaging |
Het |
| Vwc2 |
A |
G |
11: 11,104,235 (GRCm39) |
T256A |
probably damaging |
Het |
| Zfp300 |
C |
T |
X: 20,949,405 (GRCm39) |
V120I |
possibly damaging |
Het |
| Zfp982 |
A |
T |
4: 147,597,080 (GRCm39) |
R146* |
probably null |
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 |
|
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 |
|
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'- ACTCAGGCTCTCAGTTCACC -3'
(R):5'- ACCATAAGTTCCCCTGGGACTTG -3'
Sequencing Primer
(F):5'- AGTTCACCTCCCCTGGG -3'
(R):5'- GTGCGCTGCTTCATCTAA -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation