Incidental Mutation 'R7856:Ppp1r7'
| ID |
607220 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r7
|
| Ensembl Gene |
ENSMUSG00000026275 |
| Gene Name |
protein phosphatase 1, regulatory subunit 7 |
| Synonyms |
SDS22, 2310014J01Rik |
| MMRRC Submission |
045909-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
R7856 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
93271350-93295344 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93278068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 69
(D69G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027494]
[ENSMUST00000185498]
|
| AlphaFold |
Q3UM45 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027494
AA Change: D69G
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000027494
Gene: ENSMUSG00000026275
AA Change: D69G
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000124279
Gene: ENSMUSG00000026275
AA Change: D53G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
24 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000185498
AA Change: D25G
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000140544
Gene: ENSMUSG00000026275
AA Change: D25G
| 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 |
|
| Meta Mutation Damage Score |
0.0922 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (36/36) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1h |
T |
C |
17: 25,608,451 (GRCm39) |
T819A |
probably damaging |
Het |
| Ccdc34 |
T |
A |
2: 109,874,572 (GRCm39) |
Y310* |
probably null |
Het |
| Ccdc63 |
A |
G |
5: 122,268,006 (GRCm39) |
W8R |
probably benign |
Het |
| Ces2g |
G |
A |
8: 105,693,014 (GRCm39) |
V351I |
not run |
Het |
| Ces3b |
A |
G |
8: 105,819,894 (GRCm39) |
*572W |
probably null |
Het |
| Dgka |
T |
C |
10: 128,572,533 (GRCm39) |
N40S |
probably benign |
Het |
| Dnajc13 |
C |
A |
9: 104,044,684 (GRCm39) |
R1835L |
possibly damaging |
Het |
| Dusp7 |
C |
A |
9: 106,246,067 (GRCm39) |
A24E |
unknown |
Het |
| Ep400 |
T |
A |
5: 110,814,450 (GRCm39) |
T2931S |
probably damaging |
Het |
| Gm4847 |
A |
T |
1: 166,462,395 (GRCm39) |
L365Q |
probably damaging |
Het |
| Gtse1 |
C |
T |
15: 85,748,342 (GRCm39) |
T249M |
probably benign |
Het |
| Hook3 |
T |
C |
8: 26,525,249 (GRCm39) |
D619G |
probably damaging |
Het |
| Itsn1 |
T |
A |
16: 91,705,375 (GRCm39) |
|
probably null |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Mx1 |
A |
G |
16: 97,256,735 (GRCm39) |
I148T |
probably damaging |
Het |
| Or5m3 |
T |
A |
2: 85,838,640 (GRCm39) |
N173K |
probably damaging |
Het |
| Or6c1b |
A |
G |
10: 129,272,885 (GRCm39) |
E68G |
probably damaging |
Het |
| Orc3 |
T |
C |
4: 34,585,647 (GRCm39) |
I416V |
probably benign |
Het |
| Plcxd3 |
A |
T |
15: 4,546,581 (GRCm39) |
Y195F |
probably damaging |
Het |
| Ppp1r3a |
A |
T |
6: 14,718,025 (GRCm39) |
I963N |
probably benign |
Het |
| Rars1 |
A |
G |
11: 35,699,412 (GRCm39) |
V627A |
probably benign |
Het |
| Sash1 |
A |
G |
10: 8,605,472 (GRCm39) |
S973P |
probably benign |
Het |
| Slc22a28 |
T |
C |
19: 8,040,698 (GRCm39) |
T518A |
probably damaging |
Het |
| Slc4a9 |
C |
T |
18: 36,661,751 (GRCm39) |
H92Y |
probably benign |
Het |
| Son |
A |
G |
16: 91,456,146 (GRCm39) |
D1631G |
probably damaging |
Het |
| Stat5a |
T |
C |
11: 100,774,728 (GRCm39) |
W746R |
unknown |
Het |
| Thsd4 |
A |
T |
9: 59,910,144 (GRCm39) |
L508Q |
probably damaging |
Het |
| Tlx1 |
C |
T |
19: 45,144,427 (GRCm39) |
Q292* |
probably null |
Het |
| Ttc34 |
T |
C |
4: 154,945,743 (GRCm39) |
V259A |
probably benign |
Het |
| Xrn2 |
T |
G |
2: 146,910,393 (GRCm39) |
|
probably null |
Het |
| Yif1b |
A |
G |
7: 28,944,045 (GRCm39) |
D137G |
possibly damaging |
Het |
| Zfp850 |
A |
G |
7: 27,689,899 (GRCm39) |
I103T |
probably benign |
Het |
| Zfp937 |
T |
C |
2: 150,081,467 (GRCm39) |
V499A |
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 |
|
|
R5299:Ppp1r7
|
UTSW |
1 |
93,280,348 (GRCm39) |
missense |
probably benign |
|
|
R5388:Ppp1r7
|
UTSW |
1 |
93,280,312 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7528:Ppp1r7
|
UTSW |
1 |
93,282,123 (GRCm39) |
nonsense |
probably null |
|
|
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'- GTAGAGACTGTTGTCACCCTTC -3'
(R):5'- AGCAGAAATAGATTTCAACTGCTGG -3'
Sequencing Primer
(F):5'- AGAGACTGTTGTCACCCTTCTCATC -3'
(R):5'- ACAAAAACAAAACAGGAAACCAATAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation