Incidental Mutation 'R5414:Ppp6r3'
| ID |
427663 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp6r3
|
| Ensembl Gene |
ENSMUSG00000024908 |
| Gene Name |
protein phosphatase 6, regulatory subunit 3 |
| Synonyms |
4930528G08Rik, Pptcs3, Saps3, D19Bwg1430e, D19Ertd703e, Pp6r3, 9130026N02Rik |
| MMRRC Submission |
042983-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.876)
|
| Stock # |
R5414 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
3504928-3625749 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3557330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 253
(S253P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131084
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025846]
[ENSMUST00000113997]
[ENSMUST00000172362]
|
| AlphaFold |
Q922D4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025846
AA Change: S253P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000025846
Gene: ENSMUSG00000024908
AA Change: S253P
| 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: S253P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109630
Gene: ENSMUSG00000024908
AA Change: S253P
| 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 damaging
Transcript: ENSMUST00000172362
AA Change: S253P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000131084
Gene: ENSMUSG00000024908
AA Change: S253P
| 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 |
noncoding transcript
Transcript: ENSMUST00000223919
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225339
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225446
|
| Meta Mutation Damage Score |
0.2657 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (55/55) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
G |
11: 110,205,448 (GRCm39) |
S278P |
probably damaging |
Het |
| Acan |
A |
G |
7: 78,750,736 (GRCm39) |
T1836A |
probably benign |
Het |
| Akr1c18 |
T |
A |
13: 4,186,734 (GRCm39) |
D238V |
probably damaging |
Het |
| Akt3 |
A |
G |
1: 176,877,817 (GRCm39) |
V317A |
probably damaging |
Het |
| Atp2b2 |
G |
A |
6: 113,819,102 (GRCm39) |
P64S |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,752,757 (GRCm39) |
N609S |
probably benign |
Het |
| Bcat1 |
A |
G |
6: 144,961,173 (GRCm39) |
|
probably null |
Het |
| C1rl |
C |
T |
6: 124,485,427 (GRCm39) |
A266V |
probably damaging |
Het |
| Cd34 |
A |
G |
1: 194,630,219 (GRCm39) |
E51G |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,717,241 (GRCm39) |
E2161G |
possibly damaging |
Het |
| Clec2h |
G |
T |
6: 128,651,749 (GRCm39) |
A153S |
probably benign |
Het |
| Cnih1 |
T |
C |
14: 47,016,440 (GRCm39) |
T105A |
probably benign |
Het |
| Coro1c |
A |
G |
5: 113,986,607 (GRCm39) |
I279T |
possibly damaging |
Het |
| Ddx11 |
A |
G |
17: 66,455,763 (GRCm39) |
T721A |
probably benign |
Het |
| Fbn2 |
C |
A |
18: 58,226,477 (GRCm39) |
A766S |
probably damaging |
Het |
| Focad |
C |
T |
4: 88,328,939 (GRCm39) |
|
probably benign |
Het |
| Galnt16 |
A |
T |
12: 80,630,822 (GRCm39) |
D300V |
probably damaging |
Het |
| Gbp2b |
T |
C |
3: 142,304,852 (GRCm39) |
L96P |
probably damaging |
Het |
| Gm10192 |
T |
C |
4: 97,071,346 (GRCm39) |
S20G |
probably null |
Het |
| Gm10288 |
T |
C |
3: 146,544,717 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4181 |
C |
T |
14: 51,873,047 (GRCm39) |
|
probably null |
Het |
| Gm6327 |
T |
A |
16: 12,578,222 (GRCm39) |
|
noncoding transcript |
Het |
| Hfm1 |
A |
G |
5: 107,049,942 (GRCm39) |
I409T |
probably damaging |
Het |
| Ibtk |
T |
C |
9: 85,608,742 (GRCm39) |
E390G |
possibly damaging |
Het |
| Ifit1bl1 |
T |
A |
19: 34,571,324 (GRCm39) |
I378F |
probably damaging |
Het |
| Kcnh4 |
T |
C |
11: 100,637,722 (GRCm39) |
D645G |
probably damaging |
Het |
| Krt33b |
T |
C |
11: 99,920,612 (GRCm39) |
T14A |
probably benign |
Het |
| Lrch3 |
T |
A |
16: 32,806,335 (GRCm39) |
|
probably null |
Het |
| Mycbp2 |
A |
T |
14: 103,543,697 (GRCm39) |
L226H |
probably damaging |
Het |
| Myo1e |
C |
A |
9: 70,229,640 (GRCm39) |
|
probably null |
Het |
| Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
| Nploc4 |
A |
T |
11: 120,304,469 (GRCm39) |
Y251N |
probably damaging |
Het |
| Or4b12 |
T |
C |
2: 90,096,046 (GRCm39) |
T243A |
probably benign |
Het |
| Pdk4 |
T |
C |
6: 5,485,499 (GRCm39) |
I397V |
probably benign |
Het |
| Pdzrn3 |
C |
T |
6: 101,130,272 (GRCm39) |
D515N |
probably damaging |
Het |
| Pgm5 |
A |
G |
19: 24,686,689 (GRCm39) |
I506T |
probably damaging |
Het |
| Pgs1 |
T |
G |
11: 117,905,502 (GRCm39) |
I499S |
probably damaging |
Het |
| Prag1 |
C |
G |
8: 36,606,776 (GRCm39) |
P839R |
probably benign |
Het |
| Rin3 |
C |
T |
12: 102,356,116 (GRCm39) |
Q806* |
probably null |
Het |
| Ros1 |
T |
C |
10: 52,031,189 (GRCm39) |
D484G |
probably damaging |
Het |
| Scamp5 |
A |
G |
9: 57,354,507 (GRCm39) |
V49A |
probably benign |
Het |
| Sis |
C |
A |
3: 72,859,826 (GRCm39) |
V310L |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,206,322 (GRCm39) |
T19A |
possibly damaging |
Het |
| Tcstv2b |
A |
C |
13: 120,373,872 (GRCm39) |
D139E |
probably damaging |
Het |
| Tenm3 |
A |
C |
8: 48,689,390 (GRCm39) |
S2066A |
probably damaging |
Het |
| Thra |
A |
G |
11: 98,651,783 (GRCm39) |
I102V |
probably benign |
Het |
| Trim30a |
A |
C |
7: 104,060,348 (GRCm39) |
V476G |
probably damaging |
Het |
| Vmn2r3 |
T |
A |
3: 64,166,978 (GRCm39) |
R718* |
probably null |
Het |
| Washc4 |
A |
G |
10: 83,391,967 (GRCm39) |
T218A |
possibly damaging |
Het |
| Xrcc1 |
A |
G |
7: 24,269,643 (GRCm39) |
Y401C |
probably damaging |
Het |
| Zfp629 |
T |
C |
7: 127,210,454 (GRCm39) |
T452A |
probably 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 |
|
IGL01304:Ppp6r3
|
APN |
19 |
3,517,261 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGATCTTCAAAGGCGTGCTAC -3'
(R):5'- CCCCATCCTGTTAAAAGCGATG -3'
Sequencing Primer
(F):5'- CGATCTTCAAAGGCGTGCTACTATAG -3'
(R):5'- CCATCCTGTTAAAAGCGATGAACTTC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation