Incidental Mutation 'R5139:Ppp6r3'
| ID |
396372 |
| 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 |
042725-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.876)
|
| Stock # |
R5139 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
3504928-3625749 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 3514610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 766
(N766K)
|
| 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: N766K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025846
Gene: ENSMUSG00000024908
AA Change: N766K
| 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: N795K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109630
Gene: ENSMUSG00000024908
AA Change: N795K
| 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: N749K
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000131084
Gene: ENSMUSG00000024908
AA Change: N749K
| 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: N168K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225624
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.0%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
T |
C |
4: 148,029,905 (GRCm39) |
L625P |
probably damaging |
Het |
| Agtpbp1 |
A |
G |
13: 59,648,027 (GRCm39) |
S598P |
probably damaging |
Het |
| Ahnak |
A |
C |
19: 8,982,019 (GRCm39) |
D1101A |
probably damaging |
Het |
| Aoah |
T |
C |
13: 21,207,407 (GRCm39) |
V542A |
possibly damaging |
Het |
| Aox1 |
T |
C |
1: 58,100,456 (GRCm39) |
S418P |
probably benign |
Het |
| Appl1 |
A |
G |
14: 26,669,112 (GRCm39) |
I354T |
probably benign |
Het |
| BC035947 |
T |
C |
1: 78,475,884 (GRCm39) |
E216G |
possibly damaging |
Het |
| Bnip3l |
A |
G |
14: 67,237,064 (GRCm39) |
S63P |
probably damaging |
Het |
| Cckar |
T |
C |
5: 53,860,265 (GRCm39) |
N188S |
probably benign |
Het |
| Ccl24 |
C |
T |
5: 135,601,775 (GRCm39) |
A18T |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,232,569 (GRCm39) |
C840R |
probably benign |
Het |
| Copa |
C |
T |
1: 171,948,896 (GRCm39) |
R1183W |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,876,024 (GRCm39) |
V2621A |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,248,061 (GRCm39) |
Y1019H |
probably damaging |
Het |
| Hira |
T |
C |
16: 18,773,508 (GRCm39) |
Y943H |
probably damaging |
Het |
| Ighv3-8 |
T |
C |
12: 114,285,994 (GRCm39) |
Y116C |
probably damaging |
Het |
| Igkv4-70 |
G |
A |
6: 69,245,089 (GRCm39) |
T44I |
probably damaging |
Het |
| Lce3c |
G |
A |
3: 92,852,778 (GRCm39) |
G80S |
unknown |
Het |
| Ldhb |
A |
T |
6: 142,439,921 (GRCm39) |
N206K |
probably damaging |
Het |
| Mical1 |
T |
A |
10: 41,354,411 (GRCm39) |
|
probably null |
Het |
| Myh2 |
T |
C |
11: 67,070,174 (GRCm39) |
L402P |
probably damaging |
Het |
| Naa15 |
T |
A |
3: 51,351,261 (GRCm39) |
L144I |
probably damaging |
Het |
| Nbea |
T |
A |
3: 55,534,384 (GRCm39) |
I2918F |
possibly damaging |
Het |
| Or5w11 |
C |
A |
2: 87,459,000 (GRCm39) |
H64Q |
probably benign |
Het |
| Pdcd11 |
C |
A |
19: 47,095,554 (GRCm39) |
S625R |
probably benign |
Het |
| Pdlim7 |
A |
G |
13: 55,654,869 (GRCm39) |
S214P |
probably damaging |
Het |
| Polg |
T |
C |
7: 79,099,773 (GRCm39) |
D49G |
probably damaging |
Het |
| Polr2f |
C |
A |
15: 79,035,858 (GRCm39) |
D106E |
possibly damaging |
Het |
| Prl8a1 |
T |
A |
13: 27,758,049 (GRCm39) |
D220V |
probably damaging |
Het |
| Qrfprl |
A |
T |
6: 65,433,203 (GRCm39) |
N341I |
probably damaging |
Het |
| Septin9 |
A |
G |
11: 117,247,511 (GRCm39) |
K497E |
possibly damaging |
Het |
| Sfswap |
T |
G |
5: 129,648,073 (GRCm39) |
M927R |
possibly damaging |
Het |
| Smad9 |
T |
G |
3: 54,704,827 (GRCm39) |
W400G |
possibly damaging |
Het |
| St13 |
G |
C |
15: 81,283,786 (GRCm39) |
R4G |
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,573,867 (GRCm39) |
V115A |
probably benign |
Het |
| Tesmin |
A |
G |
19: 3,456,934 (GRCm39) |
I238V |
probably damaging |
Het |
| Trf |
C |
T |
9: 103,100,133 (GRCm39) |
|
probably null |
Het |
| Trpc3 |
A |
T |
3: 36,725,706 (GRCm39) |
M90K |
possibly damaging |
Het |
| Tshz3 |
C |
T |
7: 36,470,450 (GRCm39) |
T813I |
probably benign |
Het |
| Tub |
T |
A |
7: 108,610,309 (GRCm39) |
M1K |
probably null |
Het |
| Wdfy3 |
A |
T |
5: 101,997,133 (GRCm39) |
|
probably null |
Het |
| Zfp853 |
T |
C |
5: 143,274,570 (GRCm39) |
Q350R |
unknown |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATCTCTCGGTTAACATTAATGG -3'
(R):5'- AAGTGTACGCAGGACTACGG -3'
Sequencing Primer
(F):5'- AGCTGTCACTGTAGGAGT -3'
(R):5'- TACGCAGGACTACGGCATGG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation