Incidental Mutation 'R5205:Ppp1r9b'
| ID |
398456 |
| 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 |
042780-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5205 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
94882038-94897724 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 94892124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 604
(W604R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038696]
[ENSMUST00000107748]
|
| AlphaFold |
Q6R891 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038696
AA Change: W604R
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000041732
Gene: ENSMUSG00000038976
AA Change: W604R
| 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: ENSMUST00000107748
AA Change: W180R
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000103377
Gene: ENSMUSG00000038976
AA Change: W180R
| 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 |
0.0583 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
100% (54/54) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
G |
A |
18: 59,101,880 (GRCm39) |
R650Q |
probably damaging |
Het |
| Adgre4 |
G |
T |
17: 56,101,727 (GRCm39) |
E216* |
probably null |
Het |
| Aldh6a1 |
T |
A |
12: 84,486,418 (GRCm39) |
M167L |
probably damaging |
Het |
| Asb16 |
G |
A |
11: 102,159,820 (GRCm39) |
D58N |
probably damaging |
Het |
| Cfap43 |
C |
A |
19: 47,885,987 (GRCm39) |
L209F |
possibly damaging |
Het |
| Cfh |
A |
G |
1: 140,071,708 (GRCm39) |
C327R |
probably damaging |
Het |
| Chd7 |
T |
A |
4: 8,752,509 (GRCm39) |
N335K |
possibly damaging |
Het |
| Clca3a1 |
T |
C |
3: 144,452,545 (GRCm39) |
E646G |
possibly damaging |
Het |
| Col6a6 |
A |
T |
9: 105,659,232 (GRCm39) |
V571D |
probably damaging |
Het |
| Cttnbp2 |
T |
C |
6: 18,427,432 (GRCm39) |
|
probably benign |
Het |
| Dennd1b |
T |
A |
1: 138,982,306 (GRCm39) |
S132T |
probably benign |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Dnaaf2 |
C |
T |
12: 69,239,698 (GRCm39) |
V608I |
probably damaging |
Het |
| Edem3 |
A |
T |
1: 151,687,270 (GRCm39) |
D717V |
probably damaging |
Het |
| Fam135a |
T |
C |
1: 24,068,592 (GRCm39) |
N589S |
probably benign |
Het |
| Gm13991 |
G |
C |
2: 116,358,681 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv2-3 |
T |
C |
12: 113,574,895 (GRCm39) |
S87G |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Kcna2 |
T |
C |
3: 107,004,462 (GRCm39) |
|
probably benign |
Het |
| Klra4 |
T |
A |
6: 130,039,080 (GRCm39) |
N104I |
probably damaging |
Het |
| Lrrc28 |
A |
G |
7: 67,181,516 (GRCm39) |
S240P |
probably benign |
Het |
| Majin |
T |
C |
19: 6,245,789 (GRCm39) |
I27T |
possibly damaging |
Het |
| Mfhas1 |
G |
A |
8: 36,058,161 (GRCm39) |
E879K |
probably benign |
Het |
| Mif-ps6 |
A |
T |
9: 14,756,768 (GRCm39) |
|
noncoding transcript |
Het |
| Msh4 |
A |
G |
3: 153,572,049 (GRCm39) |
L583P |
probably damaging |
Het |
| Nrxn1 |
A |
T |
17: 90,471,302 (GRCm39) |
N1234K |
probably damaging |
Het |
| Or5b120 |
T |
C |
19: 13,480,163 (GRCm39) |
L152P |
probably damaging |
Het |
| Orm1 |
T |
C |
4: 63,262,929 (GRCm39) |
I32T |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Plppr2 |
A |
T |
9: 21,852,370 (GRCm39) |
T85S |
probably damaging |
Het |
| Prorp |
T |
A |
12: 55,351,226 (GRCm39) |
Y178* |
probably null |
Het |
| Prss56 |
G |
T |
1: 87,113,256 (GRCm39) |
D195Y |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,782,666 (GRCm39) |
|
probably benign |
Het |
| Rbm25 |
T |
A |
12: 83,719,643 (GRCm39) |
D554E |
probably benign |
Het |
| Rbm6 |
A |
G |
9: 107,665,542 (GRCm39) |
M618T |
probably benign |
Het |
| Slc17a5 |
A |
G |
9: 78,485,899 (GRCm39) |
V62A |
probably damaging |
Het |
| Slk |
T |
A |
19: 47,613,899 (GRCm39) |
N918K |
possibly damaging |
Het |
| Syne1 |
C |
A |
10: 5,002,295 (GRCm39) |
A8126S |
probably benign |
Het |
| Synj2 |
T |
C |
17: 5,991,793 (GRCm39) |
L23S |
probably damaging |
Het |
| Taar2 |
A |
C |
10: 23,816,874 (GRCm39) |
H138P |
probably benign |
Het |
| Taar7b |
A |
T |
10: 23,875,916 (GRCm39) |
E27V |
probably benign |
Het |
| Tbc1d2b |
A |
G |
9: 90,089,863 (GRCm39) |
Y889H |
probably damaging |
Het |
| Tmem43 |
T |
C |
6: 91,463,763 (GRCm39) |
I346T |
possibly damaging |
Het |
| Ttc3 |
T |
A |
16: 94,248,918 (GRCm39) |
C1139S |
probably benign |
Het |
| Txndc11 |
A |
G |
16: 10,946,529 (GRCm39) |
V94A |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,607,133 (GRCm39) |
H4009Q |
probably benign |
Het |
| Wnk4 |
A |
G |
11: 101,155,964 (GRCm39) |
E407G |
possibly damaging |
Het |
| Ybx1 |
G |
T |
4: 119,136,348 (GRCm39) |
D261E |
probably damaging |
Het |
| Zfp985 |
A |
T |
4: 147,667,368 (GRCm39) |
I79F |
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 |
|
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'- GACTCAGGCTCTCAGTTCAC -3'
(R):5'- CATAAGTTCCCCTGGGACTTG -3'
Sequencing Primer
(F):5'- AGTTCACCTCCCCTGGG -3'
(R):5'- GTGCGCTGCTTCATCTAA -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation