Incidental Mutation 'IGL01304:Ppp6r3'
ID |
73371 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ppp6r3
|
Ensembl Gene |
ENSMUSG00000024908 |
Gene Name |
protein phosphatase 6, regulatory subunit 3 |
Synonyms |
4930528G08Rik, Pptcs3, Saps3, D19Bwg1430e, D19Ertd703e, Pp6r3, 9130026N02Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.876)
|
Stock # |
IGL01304
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
3504928-3625749 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 3517261 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 662
(M662K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025846
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025846]
[ENSMUST00000113997]
[ENSMUST00000172362]
[ENSMUST00000225475]
|
AlphaFold |
Q922D4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025846
AA Change: M662K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000025846 Gene: ENSMUSG00000024908 AA Change: M662K
Domain | Start | End | E-Value | Type |
coiled coil region
|
25 |
52 |
N/A |
INTRINSIC |
Pfam:SAPS
|
128 |
365 |
2.7e-69 |
PFAM |
Pfam:SAPS
|
360 |
513 |
1.4e-44 |
PFAM |
low complexity region
|
609 |
627 |
N/A |
INTRINSIC |
low complexity region
|
743 |
758 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113997
AA Change: M691K
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000109630 Gene: ENSMUSG00000024908 AA Change: M691K
Domain | Start | End | E-Value | Type |
coiled coil region
|
25 |
52 |
N/A |
INTRINSIC |
Pfam:SAPS
|
128 |
365 |
5.8e-69 |
PFAM |
Pfam:SAPS
|
363 |
513 |
2.7e-44 |
PFAM |
low complexity region
|
638 |
656 |
N/A |
INTRINSIC |
low complexity region
|
772 |
787 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172362
AA Change: M645K
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000131084 Gene: ENSMUSG00000024908 AA Change: M645K
Domain | Start | End | E-Value | Type |
coiled coil region
|
25 |
52 |
N/A |
INTRINSIC |
Pfam:SAPS
|
128 |
365 |
2.6e-69 |
PFAM |
Pfam:SAPS
|
360 |
513 |
1.3e-44 |
PFAM |
low complexity region
|
592 |
610 |
N/A |
INTRINSIC |
low complexity region
|
726 |
741 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000225475
AA Change: M64K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000225624
AA Change: M166K
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein phosphatase regulatory subunits, such as SAPS3, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS3 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim1 |
A |
T |
19: 57,204,153 (GRCm39) |
D79E |
probably benign |
Het |
Aplf |
A |
C |
6: 87,618,882 (GRCm39) |
S421A |
possibly damaging |
Het |
Arnt |
T |
G |
3: 95,355,696 (GRCm39) |
D13E |
probably damaging |
Het |
Asap1 |
T |
C |
15: 64,184,298 (GRCm39) |
E45G |
probably damaging |
Het |
C2cd2l |
T |
C |
9: 44,230,884 (GRCm39) |
N101S |
probably damaging |
Het |
Cby2 |
T |
A |
14: 75,830,085 (GRCm39) |
D36V |
possibly damaging |
Het |
Chmp7 |
G |
A |
14: 69,956,062 (GRCm39) |
P402L |
probably benign |
Het |
Cir1 |
A |
T |
2: 73,118,068 (GRCm39) |
|
probably null |
Het |
Clock |
A |
G |
5: 76,414,202 (GRCm39) |
|
probably null |
Het |
Col18a1 |
T |
G |
10: 76,911,975 (GRCm39) |
|
probably benign |
Het |
Csf2ra |
G |
A |
19: 61,215,271 (GRCm39) |
H115Y |
possibly damaging |
Het |
Cspg5 |
T |
A |
9: 110,085,236 (GRCm39) |
L469H |
probably damaging |
Het |
Dapk2 |
T |
C |
9: 66,139,139 (GRCm39) |
|
probably benign |
Het |
F13a1 |
T |
C |
13: 37,172,852 (GRCm39) |
D176G |
probably benign |
Het |
Fbn2 |
T |
C |
18: 58,194,817 (GRCm39) |
E1448G |
probably damaging |
Het |
Gtf2b |
C |
T |
3: 142,487,359 (GRCm39) |
S265L |
probably benign |
Het |
Hmcn1 |
C |
T |
1: 150,498,675 (GRCm39) |
G4068D |
probably damaging |
Het |
Krt81 |
G |
A |
15: 101,361,269 (GRCm39) |
H104Y |
probably benign |
Het |
Ksr1 |
T |
C |
11: 78,918,468 (GRCm39) |
Q562R |
probably damaging |
Het |
Lrif1 |
C |
T |
3: 106,639,049 (GRCm39) |
P20S |
probably damaging |
Het |
Mamdc4 |
T |
C |
2: 25,453,588 (GRCm39) |
T1194A |
possibly damaging |
Het |
Med18 |
C |
A |
4: 132,186,930 (GRCm39) |
A190S |
probably damaging |
Het |
Mia2 |
G |
A |
12: 59,151,324 (GRCm39) |
E105K |
probably damaging |
Het |
Mnt |
T |
A |
11: 74,733,011 (GRCm39) |
Y48N |
probably damaging |
Het |
Mpp4 |
A |
C |
1: 59,188,678 (GRCm39) |
|
probably null |
Het |
Or4b1b |
G |
A |
2: 90,112,425 (GRCm39) |
P165S |
possibly damaging |
Het |
Popdc3 |
T |
G |
10: 45,194,005 (GRCm39) |
S269A |
probably benign |
Het |
Qser1 |
C |
A |
2: 104,617,976 (GRCm39) |
Q945H |
probably damaging |
Het |
Rad52 |
A |
G |
6: 119,895,594 (GRCm39) |
E198G |
probably damaging |
Het |
Ranbp17 |
A |
G |
11: 33,216,147 (GRCm39) |
V867A |
possibly damaging |
Het |
Rdh16 |
G |
T |
10: 127,649,365 (GRCm39) |
A274S |
probably benign |
Het |
Slco1a5 |
G |
T |
6: 142,187,876 (GRCm39) |
Q488K |
probably benign |
Het |
Snai2 |
T |
C |
16: 14,524,635 (GRCm39) |
I47T |
probably benign |
Het |
Snw1 |
T |
C |
12: 87,500,685 (GRCm39) |
D358G |
possibly damaging |
Het |
Speg |
T |
C |
1: 75,404,841 (GRCm39) |
F2878L |
probably benign |
Het |
Spg11 |
T |
C |
2: 121,902,771 (GRCm39) |
Y1386C |
probably damaging |
Het |
Tgfb2 |
A |
C |
1: 186,357,670 (GRCm39) |
I435S |
probably damaging |
Het |
Ttc9b |
G |
A |
7: 27,355,410 (GRCm39) |
D227N |
probably benign |
Het |
Txndc2 |
T |
C |
17: 65,945,448 (GRCm39) |
E243G |
possibly damaging |
Het |
Usp28 |
A |
G |
9: 48,938,119 (GRCm39) |
D563G |
probably damaging |
Het |
Vmn1r77 |
T |
C |
7: 11,775,962 (GRCm39) |
V178A |
probably damaging |
Het |
Zfp316 |
A |
G |
5: 143,240,181 (GRCm39) |
F613L |
probably benign |
Het |
Zfp870 |
A |
T |
17: 33,101,980 (GRCm39) |
C450S |
possibly damaging |
Het |
|
Other mutations in Ppp6r3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00332:Ppp6r3
|
APN |
19 |
3,564,729 (GRCm39) |
splice site |
probably null |
|
IGL00340:Ppp6r3
|
APN |
19 |
3,568,324 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00585:Ppp6r3
|
APN |
19 |
3,540,826 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02048:Ppp6r3
|
APN |
19 |
3,523,848 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL02055:Ppp6r3
|
APN |
19 |
3,571,781 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02108:Ppp6r3
|
APN |
19 |
3,542,494 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02227:Ppp6r3
|
APN |
19 |
3,568,245 (GRCm39) |
missense |
possibly damaging |
0.56 |
IGL02427:Ppp6r3
|
APN |
19 |
3,516,580 (GRCm39) |
missense |
probably null |
|
IGL02441:Ppp6r3
|
APN |
19 |
3,514,693 (GRCm39) |
missense |
probably benign |
0.14 |
IGL02805:Ppp6r3
|
APN |
19 |
3,542,428 (GRCm39) |
missense |
probably benign |
0.15 |
IGL03298:Ppp6r3
|
APN |
19 |
3,571,829 (GRCm39) |
missense |
probably damaging |
0.97 |
PIT1430001:Ppp6r3
|
UTSW |
19 |
3,521,059 (GRCm39) |
nonsense |
probably null |
|
R0324:Ppp6r3
|
UTSW |
19 |
3,514,693 (GRCm39) |
missense |
probably benign |
0.00 |
R0362:Ppp6r3
|
UTSW |
19 |
3,528,285 (GRCm39) |
missense |
probably damaging |
0.96 |
R1876:Ppp6r3
|
UTSW |
19 |
3,521,971 (GRCm39) |
splice site |
probably benign |
|
R2860:Ppp6r3
|
UTSW |
19 |
3,571,782 (GRCm39) |
missense |
possibly damaging |
0.49 |
R2861:Ppp6r3
|
UTSW |
19 |
3,571,782 (GRCm39) |
missense |
possibly damaging |
0.49 |
R2862:Ppp6r3
|
UTSW |
19 |
3,571,782 (GRCm39) |
missense |
possibly damaging |
0.49 |
R3958:Ppp6r3
|
UTSW |
19 |
3,546,583 (GRCm39) |
missense |
probably damaging |
0.99 |
R4158:Ppp6r3
|
UTSW |
19 |
3,562,037 (GRCm39) |
missense |
probably damaging |
0.97 |
R4160:Ppp6r3
|
UTSW |
19 |
3,562,037 (GRCm39) |
missense |
probably damaging |
0.97 |
R4473:Ppp6r3
|
UTSW |
19 |
3,561,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R4901:Ppp6r3
|
UTSW |
19 |
3,517,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R4996:Ppp6r3
|
UTSW |
19 |
3,523,833 (GRCm39) |
missense |
probably damaging |
0.98 |
R5139:Ppp6r3
|
UTSW |
19 |
3,514,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R5414:Ppp6r3
|
UTSW |
19 |
3,557,330 (GRCm39) |
missense |
probably damaging |
1.00 |
R5776:Ppp6r3
|
UTSW |
19 |
3,576,901 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6290:Ppp6r3
|
UTSW |
19 |
3,544,011 (GRCm39) |
missense |
probably benign |
|
R6525:Ppp6r3
|
UTSW |
19 |
3,543,936 (GRCm39) |
missense |
probably damaging |
0.99 |
R6797:Ppp6r3
|
UTSW |
19 |
3,564,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R6977:Ppp6r3
|
UTSW |
19 |
3,517,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R7176:Ppp6r3
|
UTSW |
19 |
3,521,989 (GRCm39) |
missense |
probably damaging |
0.99 |
R7178:Ppp6r3
|
UTSW |
19 |
3,568,337 (GRCm39) |
missense |
probably benign |
0.00 |
R7239:Ppp6r3
|
UTSW |
19 |
3,543,981 (GRCm39) |
missense |
probably benign |
0.38 |
R7326:Ppp6r3
|
UTSW |
19 |
3,557,325 (GRCm39) |
missense |
probably damaging |
1.00 |
R7536:Ppp6r3
|
UTSW |
19 |
3,557,341 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7583:Ppp6r3
|
UTSW |
19 |
3,540,790 (GRCm39) |
missense |
probably benign |
|
R7991:Ppp6r3
|
UTSW |
19 |
3,509,750 (GRCm39) |
missense |
probably benign |
|
R8486:Ppp6r3
|
UTSW |
19 |
3,537,072 (GRCm39) |
missense |
probably benign |
|
R8699:Ppp6r3
|
UTSW |
19 |
3,546,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R8818:Ppp6r3
|
UTSW |
19 |
3,517,216 (GRCm39) |
missense |
probably benign |
0.31 |
R8826:Ppp6r3
|
UTSW |
19 |
3,521,984 (GRCm39) |
missense |
|
|
R8846:Ppp6r3
|
UTSW |
19 |
3,564,654 (GRCm39) |
missense |
probably damaging |
0.99 |
R8863:Ppp6r3
|
UTSW |
19 |
3,521,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R8869:Ppp6r3
|
UTSW |
19 |
3,561,927 (GRCm39) |
critical splice donor site |
probably null |
|
R8895:Ppp6r3
|
UTSW |
19 |
3,544,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R8909:Ppp6r3
|
UTSW |
19 |
3,509,461 (GRCm39) |
missense |
probably benign |
0.17 |
R9147:Ppp6r3
|
UTSW |
19 |
3,543,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R9148:Ppp6r3
|
UTSW |
19 |
3,543,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R9200:Ppp6r3
|
UTSW |
19 |
3,519,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-10-07 |