Incidental Mutation 'R3959:Ppp1r21'
| ID |
310857 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r21
|
| Ensembl Gene |
ENSMUSG00000034709 |
| Gene Name |
protein phosphatase 1, regulatory subunit 21 |
| Synonyms |
Ccdc128, Klraq1, 1110018J12Rik |
| MMRRC Submission |
040835-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.261)
|
| Stock # |
R3959 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
88837552-88895795 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88857244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 189
(E189G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048443
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038551]
|
| AlphaFold |
Q3TDD9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038551
AA Change: E189G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048443
Gene: ENSMUSG00000034709
AA Change: E189G
| Domain | Start | End | E-Value | Type |
|---|
|
KLRAQ
|
11 |
112 |
8.01e-51 |
SMART |
|
coiled coil region
|
136 |
211 |
N/A |
INTRINSIC |
|
Pfam:TTKRSYEDQ
|
255 |
771 |
1.8e-273 |
PFAM |
|
| Meta Mutation Damage Score |
0.2657 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Adam26a |
T |
C |
8: 44,022,908 (GRCm39) |
H194R |
probably benign |
Het |
| Celf4 |
A |
G |
18: 25,670,811 (GRCm39) |
M124T |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,507,585 (GRCm39) |
I2976K |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,362,329 (GRCm39) |
H3730R |
probably benign |
Het |
| Dock8 |
G |
A |
19: 25,162,305 (GRCm39) |
|
probably null |
Het |
| Eed |
C |
T |
7: 89,604,149 (GRCm39) |
R441Q |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,344,854 (GRCm39) |
T53A |
probably benign |
Het |
| Evc2 |
T |
A |
5: 37,573,120 (GRCm39) |
V944E |
possibly damaging |
Het |
| Hmgcs2 |
T |
C |
3: 98,204,793 (GRCm39) |
F317S |
possibly damaging |
Het |
| Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,874,725 (GRCm39) |
Q225L |
probably benign |
Het |
| Mapk8 |
A |
C |
14: 33,104,210 (GRCm39) |
M402R |
probably null |
Het |
| Mycbp2 |
T |
C |
14: 103,532,688 (GRCm39) |
Y389C |
probably benign |
Het |
| Nceh1 |
T |
C |
3: 27,333,345 (GRCm39) |
I147T |
probably benign |
Het |
| Nfatc3 |
C |
T |
8: 106,825,709 (GRCm39) |
R587* |
probably null |
Het |
| Nin |
A |
T |
12: 70,097,526 (GRCm39) |
F516L |
probably damaging |
Het |
| Npm1 |
T |
A |
11: 33,104,012 (GRCm39) |
N272Y |
probably damaging |
Het |
| Ntrk3 |
T |
C |
7: 77,848,590 (GRCm39) |
E787G |
probably damaging |
Het |
| Or5t5 |
G |
A |
2: 86,616,340 (GRCm39) |
V89I |
probably benign |
Het |
| Prrc2c |
A |
T |
1: 162,536,461 (GRCm39) |
|
probably benign |
Het |
| Rrn3 |
T |
C |
16: 13,599,964 (GRCm39) |
|
probably null |
Het |
| Sec23ip |
C |
G |
7: 128,378,574 (GRCm39) |
T796S |
probably benign |
Het |
| Serpina3f |
T |
A |
12: 104,183,399 (GRCm39) |
I87N |
probably damaging |
Het |
| Slc22a27 |
G |
A |
19: 7,887,414 (GRCm39) |
T188I |
probably damaging |
Het |
| Triobp |
T |
A |
15: 78,886,589 (GRCm39) |
C1930* |
probably null |
Het |
| Ucp3 |
A |
G |
7: 100,131,946 (GRCm39) |
T266A |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn2r2 |
C |
T |
3: 64,047,947 (GRCm39) |
M6I |
probably benign |
Het |
| Vmn2r72 |
A |
T |
7: 85,400,339 (GRCm39) |
L237I |
probably benign |
Het |
| Zfp518a |
A |
C |
19: 40,901,142 (GRCm39) |
Q357P |
probably damaging |
Het |
|
| Other mutations in Ppp1r21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01753:Ppp1r21
|
APN |
17 |
88,869,530 (GRCm39) |
splice site |
probably benign |
|
|
IGL02366:Ppp1r21
|
APN |
17 |
88,855,090 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02604:Ppp1r21
|
APN |
17 |
88,880,171 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02680:Ppp1r21
|
APN |
17 |
88,891,290 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0266:Ppp1r21
|
UTSW |
17 |
88,876,500 (GRCm39) |
splice site |
probably benign |
|
|
R0436:Ppp1r21
|
UTSW |
17 |
88,873,117 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1398:Ppp1r21
|
UTSW |
17 |
88,850,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1472:Ppp1r21
|
UTSW |
17 |
88,866,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1599:Ppp1r21
|
UTSW |
17 |
88,880,055 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1677:Ppp1r21
|
UTSW |
17 |
88,858,097 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1760:Ppp1r21
|
UTSW |
17 |
88,869,653 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2571:Ppp1r21
|
UTSW |
17 |
88,852,810 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3700:Ppp1r21
|
UTSW |
17 |
88,889,882 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3786:Ppp1r21
|
UTSW |
17 |
88,884,555 (GRCm39) |
splice site |
probably null |
|
|
R4649:Ppp1r21
|
UTSW |
17 |
88,856,941 (GRCm39) |
missense |
probably benign |
|
|
R4654:Ppp1r21
|
UTSW |
17 |
88,866,227 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4724:Ppp1r21
|
UTSW |
17 |
88,863,019 (GRCm39) |
nonsense |
probably null |
|
|
R4766:Ppp1r21
|
UTSW |
17 |
88,880,043 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4933:Ppp1r21
|
UTSW |
17 |
88,855,049 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4934:Ppp1r21
|
UTSW |
17 |
88,852,804 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4934:Ppp1r21
|
UTSW |
17 |
88,852,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4992:Ppp1r21
|
UTSW |
17 |
88,876,508 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5109:Ppp1r21
|
UTSW |
17 |
88,866,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5372:Ppp1r21
|
UTSW |
17 |
88,858,103 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5861:Ppp1r21
|
UTSW |
17 |
88,889,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6200:Ppp1r21
|
UTSW |
17 |
88,876,613 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6369:Ppp1r21
|
UTSW |
17 |
88,889,840 (GRCm39) |
splice site |
probably null |
|
|
R7060:Ppp1r21
|
UTSW |
17 |
88,887,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7154:Ppp1r21
|
UTSW |
17 |
88,862,314 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7390:Ppp1r21
|
UTSW |
17 |
88,856,958 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7470:Ppp1r21
|
UTSW |
17 |
88,869,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7475:Ppp1r21
|
UTSW |
17 |
88,863,031 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7657:Ppp1r21
|
UTSW |
17 |
88,863,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8021:Ppp1r21
|
UTSW |
17 |
88,856,935 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8081:Ppp1r21
|
UTSW |
17 |
88,866,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9272:Ppp1r21
|
UTSW |
17 |
88,866,086 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9377:Ppp1r21
|
UTSW |
17 |
88,852,815 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGACCCGGAAGTACATGGAG -3'
(R):5'- TGCTCCAGTCTTATCAACTCAG -3'
Sequencing Primer
(F):5'- TGGAGACCATTGAGAAACTCC -3'
(R):5'- CCCACATTGTTCCCTTAGAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation