Incidental Mutation 'R6449:Ppp1r9a'
| ID |
519287 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r9a
|
| Ensembl Gene |
ENSMUSG00000032827 |
| Gene Name |
protein phosphatase 1, regulatory subunit 9A |
| Synonyms |
NRB, neurabin-I, Neurabin I, A230094E16Rik, 4930518N04Rik, 2810430P21Rik |
| MMRRC Submission |
044585-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.499)
|
| Stock # |
R6449 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
4902917-5165661 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5057458 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 191
(D191G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035813]
[ENSMUST00000168998]
[ENSMUST00000175889]
[ENSMUST00000176263]
[ENSMUST00000176729]
[ENSMUST00000177153]
[ENSMUST00000177456]
|
| AlphaFold |
H3BJD6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035813
AA Change: D511G
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000046906
Gene: ENSMUSG00000032827
AA Change: D511G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
416 |
435 |
N/A |
INTRINSIC |
|
PDZ
|
513 |
593 |
4.26e-18 |
SMART |
|
low complexity region
|
608 |
620 |
N/A |
INTRINSIC |
|
Blast:PDZ
|
741 |
778 |
5e-15 |
BLAST |
|
low complexity region
|
784 |
798 |
N/A |
INTRINSIC |
|
SAM
|
986 |
1052 |
6.41e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164110
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168998
AA Change: D511G
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000126643
Gene: ENSMUSG00000032827
AA Change: D511G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
416 |
435 |
N/A |
INTRINSIC |
|
PDZ
|
513 |
593 |
4.26e-18 |
SMART |
|
low complexity region
|
608 |
620 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175889
AA Change: D511G
PolyPhen 2
Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000135629
Gene: ENSMUSG00000032827
AA Change: D511G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
416 |
435 |
N/A |
INTRINSIC |
|
PDZ
|
513 |
593 |
4.26e-18 |
SMART |
|
low complexity region
|
608 |
620 |
N/A |
INTRINSIC |
|
Blast:PDZ
|
741 |
778 |
2e-15 |
BLAST |
|
low complexity region
|
784 |
798 |
N/A |
INTRINSIC |
|
SAM
|
986 |
1041 |
1.72e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176263
AA Change: D511G
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000134937
Gene: ENSMUSG00000032827
AA Change: D511G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
416 |
435 |
N/A |
INTRINSIC |
|
PDZ
|
513 |
593 |
4.26e-18 |
SMART |
|
low complexity region
|
608 |
620 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
649 |
N/A |
INTRINSIC |
|
Blast:PDZ
|
763 |
800 |
2e-15 |
BLAST |
|
low complexity region
|
806 |
820 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176729
AA Change: D191G
PolyPhen 2
Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000134909
Gene: ENSMUSG00000032827
AA Change: D191G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
115 |
N/A |
INTRINSIC |
|
PDB:3HVQ|D
|
116 |
232 |
4e-79 |
PDB |
|
SCOP:d1be9a_
|
174 |
232 |
5e-9 |
SMART |
|
Blast:PDZ
|
193 |
232 |
1e-18 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177153
AA Change: D511G
PolyPhen 2
Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000135485
Gene: ENSMUSG00000032827
AA Change: D511G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
416 |
435 |
N/A |
INTRINSIC |
|
PDZ
|
513 |
593 |
4.26e-18 |
SMART |
|
low complexity region
|
608 |
620 |
N/A |
INTRINSIC |
|
Blast:PDZ
|
741 |
778 |
2e-15 |
BLAST |
|
low complexity region
|
784 |
798 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177456
AA Change: D511G
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000134943
Gene: ENSMUSG00000032827
AA Change: D511G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
416 |
435 |
N/A |
INTRINSIC |
|
PDZ
|
513 |
593 |
4.26e-18 |
SMART |
|
low complexity region
|
608 |
620 |
N/A |
INTRINSIC |
|
Blast:PDZ
|
741 |
778 |
2e-15 |
BLAST |
|
low complexity region
|
784 |
798 |
N/A |
INTRINSIC |
|
low complexity region
|
966 |
987 |
N/A |
INTRINSIC |
|
low complexity region
|
1040 |
1049 |
N/A |
INTRINSIC |
|
low complexity region
|
1103 |
1114 |
N/A |
INTRINSIC |
|
SAM
|
1183 |
1249 |
6.41e-16 |
SMART |
|
| Meta Mutation Damage Score |
0.0688 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.6%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is imprinted, and located in a cluster of imprinted genes on chromosome 7q12. This gene is transcribed in both neuronal and multiple embryonic tissues, and it is maternally expressed mainly in embryonic skeletal muscle tissues and biallelically expressed in other embryonic tissues. The protein encoded by this gene includes a PDZ domain and a sterile alpha motif (SAM). It is a regulatory subunit of protein phosphatase I, and controls actin cytoskeleton reorganization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defects in dopamine-mediated neuromodulation, deficient long-term potentiation at corticostriatal synapses, increased spontaneous excitatory post-synaptic current frequency, and enhanced locomotor activationin response to cocaine treatment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
C |
T |
7: 41,275,298 (GRCm39) |
Q334* |
probably null |
Het |
| Aadacl2fm2 |
A |
T |
3: 59,652,972 (GRCm39) |
D137V |
probably damaging |
Het |
| Adam28 |
T |
C |
14: 68,868,116 (GRCm39) |
T410A |
probably benign |
Het |
| Ano10 |
T |
C |
9: 122,030,754 (GRCm39) |
|
probably benign |
Het |
| Bmpr2 |
T |
A |
1: 59,906,596 (GRCm39) |
V563E |
probably damaging |
Het |
| Ccdc47 |
A |
G |
11: 106,095,811 (GRCm39) |
L295P |
probably damaging |
Het |
| Cdhr1 |
T |
C |
14: 36,812,554 (GRCm39) |
T210A |
probably benign |
Het |
| Col16a1 |
G |
A |
4: 129,960,486 (GRCm39) |
A408T |
unknown |
Het |
| Csnk1g2 |
A |
G |
10: 80,475,906 (GRCm39) |
K415R |
probably damaging |
Het |
| Cyp2c29 |
G |
T |
19: 39,279,311 (GRCm39) |
A103S |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dsg1b |
A |
T |
18: 20,527,498 (GRCm39) |
I210F |
possibly damaging |
Het |
| Fhod1 |
T |
A |
8: 106,056,869 (GRCm39) |
D1002V |
probably damaging |
Het |
| Gm5592 |
G |
A |
7: 40,938,010 (GRCm39) |
V431I |
probably benign |
Het |
| Gtpbp4 |
A |
T |
13: 9,040,773 (GRCm39) |
C174* |
probably null |
Het |
| Il2ra |
A |
G |
2: 11,685,173 (GRCm39) |
K170E |
probably benign |
Het |
| Itch |
T |
C |
2: 155,005,315 (GRCm39) |
|
probably benign |
Het |
| Jazf1 |
A |
C |
6: 52,754,640 (GRCm39) |
D145E |
probably damaging |
Het |
| Kank2 |
G |
T |
9: 21,691,858 (GRCm39) |
A469E |
possibly damaging |
Het |
| Kirrel3 |
A |
G |
9: 34,902,269 (GRCm39) |
I125V |
probably benign |
Het |
| Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
| Krtap27-1 |
C |
T |
16: 88,467,941 (GRCm39) |
S201N |
probably benign |
Het |
| Map3k20 |
T |
C |
2: 72,228,758 (GRCm39) |
S326P |
probably damaging |
Het |
| Mkks |
C |
A |
2: 136,716,206 (GRCm39) |
V565F |
probably damaging |
Het |
| Ntaq1 |
T |
G |
15: 58,013,994 (GRCm39) |
|
probably null |
Het |
| Or5c1 |
A |
G |
2: 37,221,837 (GRCm39) |
D26G |
possibly damaging |
Het |
| Or5k8 |
A |
T |
16: 58,644,889 (GRCm39) |
I61N |
probably damaging |
Het |
| Or5w11 |
T |
C |
2: 87,459,493 (GRCm39) |
S229P |
possibly damaging |
Het |
| Pacsin3 |
A |
T |
2: 91,090,514 (GRCm39) |
|
probably null |
Het |
| Pdcd7 |
A |
G |
9: 65,264,057 (GRCm39) |
E434G |
probably damaging |
Het |
| Plekhb2 |
T |
C |
1: 34,903,564 (GRCm39) |
F102L |
probably benign |
Het |
| Psmd3 |
A |
G |
11: 98,576,466 (GRCm39) |
T123A |
probably benign |
Het |
| Ptprq |
C |
T |
10: 107,541,444 (GRCm39) |
V361M |
probably benign |
Het |
| Raver2 |
A |
G |
4: 100,990,869 (GRCm39) |
D414G |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,933,252 (GRCm39) |
H1162Y |
probably benign |
Het |
| Sema4f |
A |
G |
6: 82,894,851 (GRCm39) |
V448A |
probably benign |
Het |
| Tcf12 |
A |
T |
9: 71,775,550 (GRCm39) |
M400K |
probably damaging |
Het |
| Tcl1b2 |
G |
T |
12: 105,119,261 (GRCm39) |
E50* |
probably null |
Het |
| Thada |
A |
C |
17: 84,736,601 (GRCm39) |
D893E |
probably benign |
Het |
| Trim24 |
G |
A |
6: 37,880,587 (GRCm39) |
|
probably null |
Het |
| Ttll5 |
T |
C |
12: 86,071,050 (GRCm39) |
S1308P |
probably benign |
Het |
| Ubtfl1 |
T |
A |
9: 18,320,925 (GRCm39) |
I151N |
possibly damaging |
Het |
| Vmn2r70 |
A |
T |
7: 85,214,157 (GRCm39) |
F332I |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,307,488 (GRCm39) |
D238G |
probably damaging |
Het |
| Zfp639 |
A |
G |
3: 32,573,810 (GRCm39) |
H145R |
possibly damaging |
Het |
|
| Other mutations in Ppp1r9a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00480:Ppp1r9a
|
APN |
6 |
5,158,195 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL00796:Ppp1r9a
|
APN |
6 |
5,157,014 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL00906:Ppp1r9a
|
APN |
6 |
5,157,023 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01662:Ppp1r9a
|
APN |
6 |
5,115,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01695:Ppp1r9a
|
APN |
6 |
5,064,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01807:Ppp1r9a
|
APN |
6 |
5,158,248 (GRCm39) |
nonsense |
probably null |
|
|
IGL02126:Ppp1r9a
|
APN |
6 |
5,156,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02423:Ppp1r9a
|
APN |
6 |
4,906,537 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL03343:Ppp1r9a
|
APN |
6 |
5,046,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03365:Ppp1r9a
|
APN |
6 |
5,110,993 (GRCm39) |
splice site |
probably benign |
|
|
R0545:Ppp1r9a
|
UTSW |
6 |
5,115,357 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1126:Ppp1r9a
|
UTSW |
6 |
4,906,795 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1137:Ppp1r9a
|
UTSW |
6 |
5,159,697 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1443:Ppp1r9a
|
UTSW |
6 |
5,057,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1484:Ppp1r9a
|
UTSW |
6 |
5,113,712 (GRCm39) |
nonsense |
probably null |
|
|
R1545:Ppp1r9a
|
UTSW |
6 |
5,156,242 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1627:Ppp1r9a
|
UTSW |
6 |
4,906,168 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1672:Ppp1r9a
|
UTSW |
6 |
5,143,491 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1826:Ppp1r9a
|
UTSW |
6 |
5,111,060 (GRCm39) |
splice site |
probably benign |
|
|
R1834:Ppp1r9a
|
UTSW |
6 |
5,113,710 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1874:Ppp1r9a
|
UTSW |
6 |
4,906,348 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2224:Ppp1r9a
|
UTSW |
6 |
5,154,074 (GRCm39) |
missense |
probably benign |
|
|
R2227:Ppp1r9a
|
UTSW |
6 |
5,154,074 (GRCm39) |
missense |
probably benign |
|
|
R2898:Ppp1r9a
|
UTSW |
6 |
4,906,558 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3606:Ppp1r9a
|
UTSW |
6 |
5,113,674 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3732:Ppp1r9a
|
UTSW |
6 |
4,906,259 (GRCm39) |
unclassified |
probably benign |
|
|
R3927:Ppp1r9a
|
UTSW |
6 |
5,057,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4631:Ppp1r9a
|
UTSW |
6 |
4,906,537 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4682:Ppp1r9a
|
UTSW |
6 |
4,905,477 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4766:Ppp1r9a
|
UTSW |
6 |
5,157,016 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5197:Ppp1r9a
|
UTSW |
6 |
5,156,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5217:Ppp1r9a
|
UTSW |
6 |
5,115,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5493:Ppp1r9a
|
UTSW |
6 |
5,159,702 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5790:Ppp1r9a
|
UTSW |
6 |
5,134,363 (GRCm39) |
intron |
probably benign |
|
|
R5828:Ppp1r9a
|
UTSW |
6 |
5,158,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5896:Ppp1r9a
|
UTSW |
6 |
5,159,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5930:Ppp1r9a
|
UTSW |
6 |
5,157,002 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5990:Ppp1r9a
|
UTSW |
6 |
5,134,660 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6017:Ppp1r9a
|
UTSW |
6 |
4,906,363 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6122:Ppp1r9a
|
UTSW |
6 |
4,905,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6164:Ppp1r9a
|
UTSW |
6 |
5,110,715 (GRCm39) |
intron |
probably benign |
|
|
R6175:Ppp1r9a
|
UTSW |
6 |
4,905,639 (GRCm39) |
nonsense |
probably null |
|
|
R6188:Ppp1r9a
|
UTSW |
6 |
5,158,113 (GRCm39) |
nonsense |
probably null |
|
|
R6233:Ppp1r9a
|
UTSW |
6 |
5,077,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6321:Ppp1r9a
|
UTSW |
6 |
5,115,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6454:Ppp1r9a
|
UTSW |
6 |
4,905,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6527:Ppp1r9a
|
UTSW |
6 |
5,045,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7053:Ppp1r9a
|
UTSW |
6 |
4,905,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7233:Ppp1r9a
|
UTSW |
6 |
5,134,804 (GRCm39) |
missense |
probably benign |
|
|
R7238:Ppp1r9a
|
UTSW |
6 |
5,159,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7438:Ppp1r9a
|
UTSW |
6 |
5,115,378 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7497:Ppp1r9a
|
UTSW |
6 |
4,905,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7666:Ppp1r9a
|
UTSW |
6 |
5,143,238 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7698:Ppp1r9a
|
UTSW |
6 |
4,906,430 (GRCm39) |
missense |
probably benign |
|
|
R7850:Ppp1r9a
|
UTSW |
6 |
4,905,894 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8029:Ppp1r9a
|
UTSW |
6 |
5,057,518 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8392:Ppp1r9a
|
UTSW |
6 |
5,143,491 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8411:Ppp1r9a
|
UTSW |
6 |
5,057,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8431:Ppp1r9a
|
UTSW |
6 |
5,115,456 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8699:Ppp1r9a
|
UTSW |
6 |
5,115,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8708:Ppp1r9a
|
UTSW |
6 |
5,115,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9039:Ppp1r9a
|
UTSW |
6 |
5,134,657 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9096:Ppp1r9a
|
UTSW |
6 |
4,906,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9097:Ppp1r9a
|
UTSW |
6 |
4,906,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9131:Ppp1r9a
|
UTSW |
6 |
5,134,106 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9279:Ppp1r9a
|
UTSW |
6 |
5,113,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9512:Ppp1r9a
|
UTSW |
6 |
5,115,364 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9512:Ppp1r9a
|
UTSW |
6 |
5,113,681 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9567:Ppp1r9a
|
UTSW |
6 |
5,157,004 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9672:Ppp1r9a
|
UTSW |
6 |
5,007,889 (GRCm39) |
missense |
unknown |
|
|
R9687:Ppp1r9a
|
UTSW |
6 |
4,905,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9715:Ppp1r9a
|
UTSW |
6 |
5,045,936 (GRCm39) |
missense |
probably damaging |
0.96 |
|
RF007:Ppp1r9a
|
UTSW |
6 |
4,906,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTATTCAGGGATTCTGTGAAATC -3'
(R):5'- TAGAAACATGCGGCAGGTC -3'
Sequencing Primer
(F):5'- AACCAAATTATTGCCTTTCCTGGGAC -3'
(R):5'- GTCCTGGGATTCAGTTCGCC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation