Incidental Mutation 'R5397:Ppp1r9b'
ID |
429761 |
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 |
042968-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5397 (G1)
|
Quality Score |
202 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
94882038-94897724 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 94892936 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 260
(E260G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103377
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038696]
[ENSMUST00000107748]
|
AlphaFold |
Q6R891 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038696
AA Change: E684G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000041732 Gene: ENSMUSG00000038976 AA Change: E684G
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 damaging
Transcript: ENSMUST00000107748
AA Change: E260G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000103377 Gene: ENSMUSG00000038976 AA Change: E260G
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: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox2 |
T |
C |
14: 8,243,803 (GRCm38) |
T518A |
probably benign |
Het |
Acvr1b |
T |
A |
15: 101,096,845 (GRCm39) |
V254D |
probably damaging |
Het |
Adar |
T |
C |
3: 89,642,626 (GRCm39) |
I169T |
probably benign |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Arap1 |
A |
T |
7: 101,034,119 (GRCm39) |
Q187L |
possibly damaging |
Het |
Atad5 |
T |
A |
11: 80,002,319 (GRCm39) |
M1037K |
probably damaging |
Het |
Bsg |
T |
A |
10: 79,544,629 (GRCm39) |
W56R |
probably damaging |
Het |
C1qtnf3 |
A |
G |
15: 10,978,627 (GRCm39) |
T276A |
probably damaging |
Het |
Capn2 |
A |
G |
1: 182,298,271 (GRCm39) |
C665R |
probably damaging |
Het |
Cast |
A |
G |
13: 74,869,056 (GRCm39) |
S248P |
possibly damaging |
Het |
Cd68 |
C |
T |
11: 69,556,484 (GRCm39) |
V108I |
probably benign |
Het |
Cyp2d11 |
A |
T |
15: 82,276,279 (GRCm39) |
W131R |
probably damaging |
Het |
Dhx58 |
A |
G |
11: 100,594,746 (GRCm39) |
V50A |
probably damaging |
Het |
Fam124a |
A |
G |
14: 62,843,838 (GRCm39) |
S449G |
probably benign |
Het |
Flnc |
G |
A |
6: 29,441,160 (GRCm39) |
M371I |
possibly damaging |
Het |
Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Gpr149 |
A |
G |
3: 62,438,226 (GRCm39) |
S644P |
probably damaging |
Het |
Gucy1b1 |
G |
A |
3: 81,951,458 (GRCm39) |
T274I |
possibly damaging |
Het |
Kcnq5 |
A |
G |
1: 21,476,080 (GRCm39) |
V541A |
probably damaging |
Het |
Kdm5b |
G |
A |
1: 134,549,836 (GRCm39) |
|
probably null |
Het |
Lig4 |
G |
T |
8: 10,022,644 (GRCm39) |
R379S |
probably benign |
Het |
Map7 |
G |
A |
10: 20,149,067 (GRCm39) |
R514Q |
unknown |
Het |
Mertk |
T |
A |
2: 128,613,384 (GRCm39) |
F467I |
possibly damaging |
Het |
Mettl4 |
A |
T |
17: 95,034,705 (GRCm39) |
Y463* |
probably null |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Nme8 |
T |
C |
13: 19,878,549 (GRCm39) |
D70G |
probably damaging |
Het |
Npat |
A |
G |
9: 53,481,774 (GRCm39) |
N1161D |
probably damaging |
Het |
Or4k77 |
T |
A |
2: 111,199,285 (GRCm39) |
C103S |
probably benign |
Het |
Or51ac3 |
T |
A |
7: 103,213,713 (GRCm39) |
I258F |
probably damaging |
Het |
Or6c76b |
T |
C |
10: 129,692,579 (GRCm39) |
F64S |
probably damaging |
Het |
Paxip1 |
A |
T |
5: 27,977,002 (GRCm39) |
|
probably benign |
Het |
Peg10 |
C |
CTCG |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
Plxnc1 |
T |
C |
10: 94,679,614 (GRCm39) |
T923A |
probably benign |
Het |
Pms1 |
T |
A |
1: 53,231,279 (GRCm39) |
K857* |
probably null |
Het |
Prpf3 |
A |
T |
3: 95,760,891 (GRCm39) |
S4T |
probably benign |
Het |
Rdh14 |
T |
A |
12: 10,444,869 (GRCm39) |
V240D |
probably damaging |
Het |
Ripply1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
X: 138,680,599 (GRCm39) |
|
probably benign |
Het |
S100a1 |
A |
T |
3: 90,419,442 (GRCm39) |
M1K |
probably null |
Het |
Slc2a5 |
G |
A |
4: 150,224,280 (GRCm39) |
|
probably null |
Het |
Slc5a5 |
T |
C |
8: 71,343,823 (GRCm39) |
T160A |
probably damaging |
Het |
Srcap |
T |
G |
7: 127,152,468 (GRCm39) |
|
probably null |
Het |
Tgm6 |
T |
A |
2: 129,983,828 (GRCm39) |
M329K |
possibly damaging |
Het |
Tom1l1 |
G |
A |
11: 90,552,600 (GRCm39) |
A201V |
probably benign |
Het |
Trgv5 |
A |
C |
13: 19,376,728 (GRCm39) |
E42D |
possibly damaging |
Het |
Ttc13 |
T |
C |
8: 125,402,002 (GRCm39) |
T662A |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,555,599 (GRCm39) |
T30469A |
probably damaging |
Het |
Ube3a |
T |
A |
7: 58,936,660 (GRCm39) |
S645R |
probably benign |
Het |
Vgll2 |
A |
G |
10: 51,901,262 (GRCm39) |
E64G |
probably damaging |
Het |
Vmn1r25 |
A |
T |
6: 57,956,060 (GRCm39) |
C76* |
probably null |
Het |
Vmn2r101 |
A |
G |
17: 19,809,104 (GRCm39) |
N78D |
probably damaging |
Het |
Zcchc10 |
CCAGCAGCAGCAGCAGCAGCAG |
CCAGCAGCAGCAGCAGCAG |
11: 53,223,344 (GRCm39) |
|
probably benign |
Het |
Zcchc7 |
C |
A |
4: 44,926,048 (GRCm39) |
A28E |
probably 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 |
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 |
|
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'- GTGAAATGGCCATTGAGGTG -3'
(R):5'- AGAGCTCTTGGGCCCTTAATC -3'
Sequencing Primer
(F):5'- CCATTGAGGTGTTTGAACTAGCAGAG -3'
(R):5'- AATCCTGATATCCCTGGTCTCACAG -3'
|
Posted On |
2016-09-06 |