Incidental Mutation 'R5299:Ppp1r7'
| ID |
405553 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r7
|
| Ensembl Gene |
ENSMUSG00000026275 |
| Gene Name |
protein phosphatase 1, regulatory subunit 7 |
| Synonyms |
SDS22, 2310014J01Rik |
| MMRRC Submission |
042882-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.932)
|
| Stock # |
R5299 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
93271350-93295344 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 93280348 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 139
(I139L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140544
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027494]
[ENSMUST00000185498]
|
| AlphaFold |
Q3UM45 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027494
AA Change: I183L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027494
Gene: ENSMUSG00000026275
AA Change: I183L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
39 |
N/A |
INTRINSIC |
|
LRR
|
98 |
119 |
1.32e-5 |
SMART |
|
LRR
|
120 |
141 |
4.37e-6 |
SMART |
|
LRR
|
142 |
163 |
6.42e-4 |
SMART |
|
LRR
|
164 |
185 |
9.73e-4 |
SMART |
|
LRR
|
186 |
207 |
3.74e-5 |
SMART |
|
LRR
|
208 |
229 |
4.68e-6 |
SMART |
|
LRR
|
230 |
251 |
1.04e-3 |
SMART |
|
LRR
|
252 |
273 |
1.98e-4 |
SMART |
|
LRR
|
274 |
295 |
2.01e-5 |
SMART |
|
LRR
|
296 |
317 |
1.45e-2 |
SMART |
|
LRRcap
|
337 |
355 |
2.67e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127141
|
| SMART Domains |
Protein: ENSMUSP00000124279
Gene: ENSMUSG00000026275
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
24 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184286
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185498
AA Change: I139L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140544
Gene: ENSMUSG00000026275
AA Change: I139L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
|
LRR
|
54 |
75 |
5.6e-8 |
SMART |
|
LRR
|
76 |
97 |
1.9e-8 |
SMART |
|
LRR
|
98 |
119 |
2.6e-6 |
SMART |
|
LRR
|
120 |
141 |
4.1e-6 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein subunit that regulates the activity of the serine/threonine phosphatase, protein phosphatase-1. The encoded protein is required for completion of the mitotic cycle and for targeting protein phosphatase-1 to mitotic kinetochores. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,381,861 (GRCm39) |
I3838V |
probably damaging |
Het |
| Arid1a |
A |
T |
4: 133,414,537 (GRCm39) |
D1231E |
unknown |
Het |
| Atxn1 |
A |
T |
13: 45,710,730 (GRCm39) |
I734K |
probably benign |
Het |
| Axin1 |
A |
G |
17: 26,392,708 (GRCm39) |
S330G |
probably damaging |
Het |
| Bend3 |
G |
A |
10: 43,369,686 (GRCm39) |
|
probably null |
Het |
| Chodl |
C |
T |
16: 78,738,296 (GRCm39) |
T88I |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dst |
A |
G |
1: 34,174,173 (GRCm39) |
I179M |
probably damaging |
Het |
| Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
| Exoc2 |
A |
T |
13: 31,055,901 (GRCm39) |
|
probably null |
Het |
| Grk2 |
T |
C |
19: 4,342,799 (GRCm39) |
E45G |
probably damaging |
Het |
| Ift81 |
T |
C |
5: 122,745,119 (GRCm39) |
Y144C |
probably damaging |
Het |
| Ighv1-15 |
T |
C |
12: 114,620,998 (GRCm39) |
D109G |
probably damaging |
Het |
| Igtp |
T |
C |
11: 58,097,959 (GRCm39) |
W377R |
possibly damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Map2k6 |
A |
G |
11: 110,383,789 (GRCm39) |
D145G |
probably benign |
Het |
| Mcph1 |
T |
C |
8: 18,702,596 (GRCm39) |
|
probably benign |
Het |
| Mdfi |
A |
G |
17: 48,131,759 (GRCm39) |
V95A |
possibly damaging |
Het |
| Mical3 |
A |
G |
6: 120,936,473 (GRCm39) |
L1351P |
possibly damaging |
Het |
| Nbas |
C |
T |
12: 13,491,926 (GRCm39) |
Q1506* |
probably null |
Het |
| Nelfb |
A |
G |
2: 25,100,757 (GRCm39) |
V128A |
probably benign |
Het |
| Otog |
A |
G |
7: 45,938,275 (GRCm39) |
T1995A |
probably benign |
Het |
| Ppp2r1b |
A |
G |
9: 50,768,340 (GRCm39) |
D19G |
probably benign |
Het |
| Proca1 |
T |
C |
11: 78,096,078 (GRCm39) |
S150P |
probably damaging |
Het |
| Rhof |
A |
G |
5: 123,258,611 (GRCm39) |
V100A |
probably damaging |
Het |
| Rsbn1 |
G |
C |
3: 103,821,806 (GRCm39) |
G14R |
probably benign |
Het |
| Serinc1 |
A |
G |
10: 57,399,147 (GRCm39) |
I252T |
probably damaging |
Het |
| Skint4 |
A |
T |
4: 111,993,203 (GRCm39) |
I309F |
possibly damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,078,417 (GRCm39) |
Y815C |
probably damaging |
Het |
| Slc25a24 |
A |
G |
3: 109,073,668 (GRCm39) |
S424G |
probably benign |
Het |
| Spint2 |
G |
A |
7: 28,963,151 (GRCm39) |
A49V |
probably damaging |
Het |
| Traf3ip3 |
T |
A |
1: 192,860,483 (GRCm39) |
K480* |
probably null |
Het |
| Ube2g2 |
T |
C |
10: 77,480,379 (GRCm39) |
S162P |
possibly damaging |
Het |
| Ubxn8 |
C |
A |
8: 34,131,947 (GRCm39) |
V7L |
possibly damaging |
Het |
| Vmn1r200 |
T |
A |
13: 22,579,945 (GRCm39) |
C249* |
probably null |
Het |
| Vmn1r38 |
T |
A |
6: 66,753,682 (GRCm39) |
T145S |
probably benign |
Het |
| Wapl |
G |
A |
14: 34,455,765 (GRCm39) |
|
probably null |
Het |
| Wfdc6a |
T |
C |
2: 164,422,311 (GRCm39) |
N96S |
possibly damaging |
Het |
| Zfp503 |
A |
G |
14: 22,035,507 (GRCm39) |
S470P |
probably benign |
Het |
|
| Other mutations in Ppp1r7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00819:Ppp1r7
|
APN |
1 |
93,273,978 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01475:Ppp1r7
|
APN |
1 |
93,288,540 (GRCm39) |
splice site |
probably benign |
|
|
R0787:Ppp1r7
|
UTSW |
1 |
93,292,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1827:Ppp1r7
|
UTSW |
1 |
93,288,518 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2392:Ppp1r7
|
UTSW |
1 |
93,282,063 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2869:Ppp1r7
|
UTSW |
1 |
93,285,585 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2869:Ppp1r7
|
UTSW |
1 |
93,285,585 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2870:Ppp1r7
|
UTSW |
1 |
93,285,585 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2870:Ppp1r7
|
UTSW |
1 |
93,285,585 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2872:Ppp1r7
|
UTSW |
1 |
93,285,585 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2872:Ppp1r7
|
UTSW |
1 |
93,285,585 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2873:Ppp1r7
|
UTSW |
1 |
93,285,585 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5388:Ppp1r7
|
UTSW |
1 |
93,280,312 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7528:Ppp1r7
|
UTSW |
1 |
93,282,123 (GRCm39) |
nonsense |
probably null |
|
|
R7856:Ppp1r7
|
UTSW |
1 |
93,278,068 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7935:Ppp1r7
|
UTSW |
1 |
93,273,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8204:Ppp1r7
|
UTSW |
1 |
93,292,733 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8341:Ppp1r7
|
UTSW |
1 |
93,274,000 (GRCm39) |
missense |
probably benign |
|
|
R8678:Ppp1r7
|
UTSW |
1 |
93,280,364 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8772:Ppp1r7
|
UTSW |
1 |
93,282,150 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8946:Ppp1r7
|
UTSW |
1 |
93,288,536 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9123:Ppp1r7
|
UTSW |
1 |
93,285,497 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9367:Ppp1r7
|
UTSW |
1 |
93,279,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF007:Ppp1r7
|
UTSW |
1 |
93,274,011 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1088:Ppp1r7
|
UTSW |
1 |
93,280,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ppp1r7
|
UTSW |
1 |
93,282,076 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATACCCTCTAGCTAAGATTCCCAC -3'
(R):5'- ACTAGGCCAGTTGGTGTGAG -3'
Sequencing Primer
(F):5'- CTAGCTAAGATTCCCACTCCTATAC -3'
(R):5'- CCAGTTGGTGTGAGCACAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation