Incidental Mutation 'R4519:Ppp6r1'
| ID |
334113 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp6r1
|
| Ensembl Gene |
ENSMUSG00000052296 |
| Gene Name |
protein phosphatase 6, regulatory subunit 1 |
| Synonyms |
B430201G11Rik, Saps1, Pp6r1, 2010309P17Rik |
| MMRRC Submission |
041590-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
R4519 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
4634494-4661949 bp(-) (GRCm39) |
| Type of Mutation |
splice site (1091 bp from exon) |
| DNA Base Change (assembly) |
A to C
at 4644045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064099]
[ENSMUST00000064099]
[ENSMUST00000205374]
[ENSMUST00000206532]
|
| AlphaFold |
Q7TSI3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064099
AA Change: H432Q
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000066736
Gene: ENSMUSG00000052296
AA Change: H432Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
36 |
N/A |
INTRINSIC |
|
Pfam:SAPS
|
128 |
378 |
4.6e-69 |
PFAM |
|
Pfam:SAPS
|
372 |
519 |
1.8e-39 |
PFAM |
|
low complexity region
|
525 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
618 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
669 |
681 |
N/A |
INTRINSIC |
|
low complexity region
|
692 |
707 |
N/A |
INTRINSIC |
|
low complexity region
|
842 |
855 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064099
AA Change: H432Q
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000066736
Gene: ENSMUSG00000052296
AA Change: H432Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
36 |
N/A |
INTRINSIC |
|
Pfam:SAPS
|
128 |
378 |
4.6e-69 |
PFAM |
|
Pfam:SAPS
|
372 |
519 |
1.8e-39 |
PFAM |
|
low complexity region
|
525 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
618 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
669 |
681 |
N/A |
INTRINSIC |
|
low complexity region
|
692 |
707 |
N/A |
INTRINSIC |
|
low complexity region
|
842 |
855 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205374
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206307
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206391
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000206532
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206768
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206966
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| 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 SAPS1, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS1 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921528I07Rik |
A |
G |
9: 114,129,092 (GRCm39) |
|
noncoding transcript |
Het |
| Acadsb |
A |
T |
7: 131,031,733 (GRCm39) |
T190S |
probably damaging |
Het |
| Adamts17 |
G |
T |
7: 66,490,314 (GRCm39) |
G132V |
probably damaging |
Het |
| Atosa |
A |
G |
9: 74,930,929 (GRCm39) |
I957M |
probably damaging |
Het |
| Atp8b3 |
C |
T |
10: 80,359,681 (GRCm39) |
M984I |
probably benign |
Het |
| Atp8b4 |
A |
T |
2: 126,256,379 (GRCm39) |
|
probably null |
Het |
| Btbd18 |
T |
C |
2: 84,497,924 (GRCm39) |
Y521H |
probably damaging |
Het |
| Casd1 |
A |
G |
6: 4,621,102 (GRCm39) |
N220S |
probably benign |
Het |
| Ccdc112 |
T |
G |
18: 46,420,613 (GRCm39) |
E379A |
possibly damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,432,651 (GRCm39) |
I1219T |
probably benign |
Het |
| Cntrl |
A |
T |
2: 35,063,123 (GRCm39) |
K1573M |
probably damaging |
Het |
| Col14a1 |
A |
T |
15: 55,251,975 (GRCm39) |
I544F |
unknown |
Het |
| Cyp20a1 |
A |
T |
1: 60,426,306 (GRCm39) |
Y416F |
probably damaging |
Het |
| Dagla |
T |
C |
19: 10,247,096 (GRCm39) |
K132E |
probably damaging |
Het |
| Dbn1 |
A |
T |
13: 55,624,042 (GRCm39) |
I350N |
possibly damaging |
Het |
| Ddx41 |
A |
T |
13: 55,680,957 (GRCm39) |
V329E |
probably damaging |
Het |
| Dhx32 |
A |
T |
7: 133,335,838 (GRCm39) |
Y272N |
probably damaging |
Het |
| Fam114a1 |
C |
A |
5: 65,163,225 (GRCm39) |
P174Q |
probably benign |
Het |
| Galnt3 |
C |
A |
2: 65,923,954 (GRCm39) |
R438L |
probably damaging |
Het |
| Ghr |
T |
A |
15: 3,362,970 (GRCm39) |
L167F |
probably damaging |
Het |
| Glod4 |
T |
A |
11: 76,134,397 (GRCm39) |
D25V |
probably damaging |
Het |
| Gm9767 |
T |
C |
10: 25,954,756 (GRCm39) |
|
probably benign |
Het |
| Golga4 |
T |
A |
9: 118,388,076 (GRCm39) |
S1733T |
probably benign |
Het |
| Gsdme |
A |
T |
6: 50,206,333 (GRCm39) |
I170N |
probably damaging |
Het |
| H2-M10.3 |
C |
T |
17: 36,678,722 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
T |
A |
5: 25,568,475 (GRCm39) |
K867M |
probably damaging |
Het |
| Krt35 |
A |
G |
11: 99,985,453 (GRCm39) |
V196A |
possibly damaging |
Het |
| Ltbp1 |
A |
T |
17: 75,671,492 (GRCm39) |
M1558L |
probably benign |
Het |
| Mcam |
T |
G |
9: 44,052,640 (GRCm39) |
M623R |
possibly damaging |
Het |
| Mrps26 |
A |
T |
2: 130,406,269 (GRCm39) |
Q134L |
probably benign |
Het |
| Mxra8 |
T |
C |
4: 155,927,440 (GRCm39) |
|
probably null |
Het |
| Or13a21 |
A |
G |
7: 139,999,123 (GRCm39) |
S188P |
probably damaging |
Het |
| Or52n20 |
G |
A |
7: 104,320,046 (GRCm39) |
G46R |
probably damaging |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Parg |
C |
A |
14: 31,931,592 (GRCm39) |
T404K |
probably damaging |
Het |
| Parp8 |
C |
A |
13: 117,032,209 (GRCm39) |
L321F |
possibly damaging |
Het |
| Piezo2 |
T |
C |
18: 63,205,951 (GRCm39) |
E1486G |
probably damaging |
Het |
| Pign |
A |
T |
1: 105,525,391 (GRCm39) |
|
probably null |
Het |
| Pik3r4 |
A |
G |
9: 105,549,924 (GRCm39) |
H1005R |
probably damaging |
Het |
| Ptdss2 |
A |
G |
7: 140,734,491 (GRCm39) |
T309A |
probably benign |
Het |
| Ptprt |
T |
C |
2: 161,406,609 (GRCm39) |
M987V |
probably damaging |
Het |
| Rgs17 |
C |
A |
10: 5,868,192 (GRCm39) |
L9F |
probably benign |
Het |
| Rock2 |
A |
G |
12: 17,027,738 (GRCm39) |
R168G |
probably damaging |
Het |
| Rsph4a |
T |
A |
10: 33,787,623 (GRCm39) |
L593* |
probably null |
Het |
| Scaf11 |
C |
A |
15: 96,322,719 (GRCm39) |
K108N |
probably damaging |
Het |
| Sec23b |
T |
A |
2: 144,423,935 (GRCm39) |
M528K |
possibly damaging |
Het |
| Shank2 |
G |
A |
7: 143,963,942 (GRCm39) |
D727N |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,965 (GRCm39) |
D124G |
probably benign |
Het |
| Spatc1 |
A |
T |
15: 76,176,685 (GRCm39) |
I479F |
probably damaging |
Het |
| Tmem126b |
A |
G |
7: 90,118,316 (GRCm39) |
L188P |
probably damaging |
Het |
| Tnrc6b |
T |
G |
15: 80,764,448 (GRCm39) |
L650W |
probably damaging |
Het |
| Vmn2r62 |
A |
G |
7: 42,413,957 (GRCm39) |
F829L |
probably damaging |
Het |
|
| Other mutations in Ppp6r1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01883:Ppp6r1
|
APN |
7 |
4,642,986 (GRCm39) |
splice site |
probably null |
|
|
IGL02232:Ppp6r1
|
APN |
7 |
4,636,341 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02674:Ppp6r1
|
APN |
7 |
4,649,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02887:Ppp6r1
|
APN |
7 |
4,645,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02990:Ppp6r1
|
APN |
7 |
4,646,022 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL03135:Ppp6r1
|
APN |
7 |
4,645,159 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03399:Ppp6r1
|
APN |
7 |
4,646,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0375:Ppp6r1
|
UTSW |
7 |
4,636,286 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0412:Ppp6r1
|
UTSW |
7 |
4,645,213 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0760:Ppp6r1
|
UTSW |
7 |
4,642,722 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0883:Ppp6r1
|
UTSW |
7 |
4,642,709 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1478:Ppp6r1
|
UTSW |
7 |
4,643,377 (GRCm39) |
splice site |
probably null |
|
|
R1515:Ppp6r1
|
UTSW |
7 |
4,646,257 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1768:Ppp6r1
|
UTSW |
7 |
4,636,691 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1772:Ppp6r1
|
UTSW |
7 |
4,645,030 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4017:Ppp6r1
|
UTSW |
7 |
4,636,743 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4795:Ppp6r1
|
UTSW |
7 |
4,644,053 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4849:Ppp6r1
|
UTSW |
7 |
4,646,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5214:Ppp6r1
|
UTSW |
7 |
4,646,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5416:Ppp6r1
|
UTSW |
7 |
4,642,747 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5643:Ppp6r1
|
UTSW |
7 |
4,636,771 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5765:Ppp6r1
|
UTSW |
7 |
4,645,207 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6126:Ppp6r1
|
UTSW |
7 |
4,646,376 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6854:Ppp6r1
|
UTSW |
7 |
4,635,395 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6932:Ppp6r1
|
UTSW |
7 |
4,636,291 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7011:Ppp6r1
|
UTSW |
7 |
4,649,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7486:Ppp6r1
|
UTSW |
7 |
4,642,899 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7500:Ppp6r1
|
UTSW |
7 |
4,639,129 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7982:Ppp6r1
|
UTSW |
7 |
4,646,157 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8769:Ppp6r1
|
UTSW |
7 |
4,644,289 (GRCm39) |
missense |
probably benign |
|
|
R9628:Ppp6r1
|
UTSW |
7 |
4,636,112 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0062:Ppp6r1
|
UTSW |
7 |
4,643,306 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATACAGAGCCCCTCATTTGC -3'
(R):5'- GCAGAGCACTTTTGAAATCAGC -3'
Sequencing Primer
(F):5'- GCTCAGAAAAATATCCCTAGTTTCC -3'
(R):5'- GAGCACTTTTGAAATCAGCCTGTATC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation