Incidental Mutation 'R2162:Ppp1r9b'
| ID |
235222 |
| 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 |
040165-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2162 (G1)
|
| Quality Score |
184 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
94882038-94897724 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94888877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 97
(L97P)
|
| 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: L521P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000041732
Gene: ENSMUSG00000038976
AA Change: L521P
| 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: L97P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103377
Gene: ENSMUSG00000038976
AA Change: L97P
| 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 |
0.1771 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
100% (55/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
A |
C |
15: 94,229,339 (GRCm39) |
C927G |
probably damaging |
Het |
| Afdn |
T |
A |
17: 14,116,436 (GRCm39) |
D190E |
probably benign |
Het |
| Ankrd28 |
T |
C |
14: 31,430,719 (GRCm39) |
D850G |
probably damaging |
Het |
| Arhgap45 |
T |
C |
10: 79,852,813 (GRCm39) |
M1T |
probably null |
Het |
| Atp6v0a4 |
T |
G |
6: 38,065,581 (GRCm39) |
K128N |
possibly damaging |
Het |
| Bcat1 |
T |
A |
6: 144,955,834 (GRCm39) |
D349V |
probably damaging |
Het |
| Cacna1i |
T |
C |
15: 80,240,388 (GRCm39) |
F370S |
probably damaging |
Het |
| Clca4b |
T |
C |
3: 144,634,348 (GRCm39) |
I82V |
probably benign |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Cyfip2 |
T |
C |
11: 46,152,333 (GRCm39) |
D485G |
probably benign |
Het |
| Cyp27b1 |
G |
T |
10: 126,886,929 (GRCm39) |
V382L |
probably damaging |
Het |
| Dnaaf5 |
T |
C |
5: 139,167,320 (GRCm39) |
V447A |
possibly damaging |
Het |
| Dpp9 |
A |
T |
17: 56,506,113 (GRCm39) |
F429I |
possibly damaging |
Het |
| Eng |
C |
T |
2: 32,569,059 (GRCm39) |
R528C |
probably damaging |
Het |
| Gcn1 |
A |
T |
5: 115,730,191 (GRCm39) |
Q835L |
probably benign |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Hlx |
T |
A |
1: 184,462,889 (GRCm39) |
|
probably null |
Het |
| Htt |
T |
A |
5: 34,979,062 (GRCm39) |
V815D |
probably benign |
Het |
| Il36rn |
G |
T |
2: 24,169,692 (GRCm39) |
L17F |
probably damaging |
Het |
| Itga1 |
C |
T |
13: 115,167,446 (GRCm39) |
V157I |
probably benign |
Het |
| Krtap19-3 |
T |
G |
16: 88,674,607 (GRCm39) |
*88C |
probably null |
Het |
| Lzic |
G |
C |
4: 149,573,185 (GRCm39) |
E112D |
probably null |
Het |
| Mark2 |
G |
C |
19: 7,260,112 (GRCm39) |
S111C |
probably damaging |
Het |
| Mep1b |
C |
T |
18: 21,219,296 (GRCm39) |
T150I |
possibly damaging |
Het |
| Mroh7 |
G |
C |
4: 106,557,378 (GRCm39) |
S777R |
probably damaging |
Het |
| Nrxn1 |
G |
A |
17: 90,469,859 (GRCm39) |
R35C |
probably damaging |
Het |
| Or12e10 |
T |
A |
2: 87,640,704 (GRCm39) |
I180K |
probably damaging |
Het |
| Or51v8 |
T |
G |
7: 103,320,079 (GRCm39) |
Q53P |
possibly damaging |
Het |
| Or5p69 |
C |
A |
7: 107,966,769 (GRCm39) |
P24Q |
probably benign |
Het |
| Pacs2 |
A |
G |
12: 113,014,567 (GRCm39) |
T243A |
probably benign |
Het |
| Pan2 |
A |
G |
10: 128,140,091 (GRCm39) |
E4G |
possibly damaging |
Het |
| Pdp1 |
A |
G |
4: 11,961,123 (GRCm39) |
V396A |
probably damaging |
Het |
| Pdzd7 |
A |
G |
19: 45,024,494 (GRCm39) |
|
probably null |
Het |
| Peg10 |
T |
A |
6: 4,755,914 (GRCm39) |
|
probably benign |
Het |
| Pgc |
C |
A |
17: 48,040,236 (GRCm39) |
F93L |
probably null |
Het |
| Piezo2 |
A |
G |
18: 63,214,733 (GRCm39) |
|
probably null |
Het |
| Pja2 |
T |
C |
17: 64,616,397 (GRCm39) |
D166G |
probably benign |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| S100a10 |
T |
C |
3: 93,471,680 (GRCm39) |
V88A |
probably damaging |
Het |
| Scn9a |
T |
A |
2: 66,364,573 (GRCm39) |
Y789F |
probably damaging |
Het |
| Slit3 |
A |
T |
11: 35,579,509 (GRCm39) |
S1229C |
probably null |
Het |
| Spata31g1 |
A |
G |
4: 42,972,238 (GRCm39) |
T524A |
possibly damaging |
Het |
| Sptan1 |
T |
C |
2: 29,908,588 (GRCm39) |
|
probably benign |
Het |
| Srrd |
G |
T |
5: 112,490,810 (GRCm39) |
|
probably benign |
Het |
| Tdrd3 |
A |
G |
14: 87,718,221 (GRCm39) |
T201A |
probably damaging |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Ttll4 |
A |
G |
1: 74,725,550 (GRCm39) |
K653E |
probably damaging |
Het |
| Usp43 |
A |
G |
11: 67,770,795 (GRCm39) |
L613P |
probably damaging |
Het |
| Vmn1r167 |
T |
C |
7: 23,204,224 (GRCm39) |
D264G |
possibly damaging |
Het |
| Whamm |
A |
G |
7: 81,221,089 (GRCm39) |
D7G |
probably damaging |
Het |
| Zcchc17 |
T |
C |
4: 130,232,317 (GRCm39) |
D62G |
probably benign |
Het |
| Zfp280d |
T |
A |
9: 72,206,104 (GRCm39) |
I62K |
probably damaging |
Het |
| Zfp445 |
T |
G |
9: 122,681,541 (GRCm39) |
E800A |
probably damaging |
Het |
| Zfp516 |
A |
G |
18: 83,005,063 (GRCm39) |
R656G |
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 |
|
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 |
|
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'- CTGTCAGCTCGTTGGATAGG -3'
(R):5'- TGCTCCGTGAACATCCGAAG -3'
Sequencing Primer
(F):5'- AACCCGTATGAGTTAGCCTG -3'
(R):5'- TCCGTGAACATCCGAAGACACAC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation