Incidental Mutation 'R6200:Ppp1r21'
ID |
503161 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp1r21
|
Ensembl Gene |
ENSMUSG00000034709 |
Gene Name |
protein phosphatase 1, regulatory subunit 21 |
Synonyms |
Ccdc128, Klraq1, 1110018J12Rik |
MMRRC Submission |
044340-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.276)
|
Stock # |
R6200 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
88837552-88895795 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 88876613 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 475
(T475M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048443
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038551]
|
AlphaFold |
Q3TDD9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038551
AA Change: T475M
PolyPhen 2
Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000048443 Gene: ENSMUSG00000034709 AA Change: T475M
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191340
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
91% (32/35) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
T |
C |
11: 109,980,876 (GRCm39) |
Y54C |
probably damaging |
Het |
Ash1l |
A |
G |
3: 88,977,834 (GRCm39) |
H2719R |
probably damaging |
Het |
Atraid |
A |
G |
5: 31,210,210 (GRCm39) |
N127D |
probably damaging |
Het |
Capzb |
T |
C |
4: 139,007,324 (GRCm39) |
V145A |
probably benign |
Het |
Catspere2 |
A |
G |
1: 177,939,124 (GRCm39) |
N666D |
possibly damaging |
Het |
Cfhr4 |
T |
A |
1: 139,682,073 (GRCm39) |
R174S |
probably damaging |
Het |
Cldn17 |
A |
C |
16: 88,303,459 (GRCm39) |
L90R |
probably damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Fancc |
A |
C |
13: 63,508,062 (GRCm39) |
L158V |
probably damaging |
Het |
Fcamr |
T |
C |
1: 130,730,927 (GRCm39) |
L60P |
probably benign |
Het |
G6pd2 |
C |
T |
5: 61,967,214 (GRCm39) |
R330C |
probably benign |
Het |
Gpr158 |
A |
T |
2: 21,404,227 (GRCm39) |
N333I |
probably damaging |
Het |
Herpud2 |
A |
G |
9: 25,062,130 (GRCm39) |
Y45H |
probably damaging |
Het |
Icam5 |
A |
G |
9: 20,950,045 (GRCm39) |
Y868C |
probably damaging |
Het |
Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Homo |
Luzp1 |
C |
A |
4: 136,268,577 (GRCm39) |
Q267K |
probably benign |
Het |
Nkpd1 |
C |
A |
7: 19,258,528 (GRCm39) |
A769E |
possibly damaging |
Het |
Or5p58 |
AACTCTGTCACT |
AACT |
7: 107,694,732 (GRCm39) |
|
probably null |
Het |
Pabpc4l |
C |
A |
3: 46,401,138 (GRCm39) |
V169L |
probably damaging |
Het |
Pcdhga7 |
A |
G |
18: 37,849,135 (GRCm39) |
N381D |
probably damaging |
Het |
Pcsk1 |
A |
T |
13: 75,263,374 (GRCm39) |
N372Y |
possibly damaging |
Het |
Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
Psd2 |
G |
A |
18: 36,139,776 (GRCm39) |
|
probably null |
Het |
Psip1 |
T |
C |
4: 83,392,610 (GRCm39) |
K100E |
probably benign |
Het |
Pxdn |
A |
G |
12: 30,053,111 (GRCm39) |
H1096R |
probably damaging |
Het |
Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,132 (GRCm39) |
|
probably benign |
Het |
Slc16a8 |
C |
T |
15: 79,137,137 (GRCm39) |
G91D |
probably damaging |
Het |
Slc22a21 |
A |
T |
11: 53,848,864 (GRCm39) |
I296N |
probably damaging |
Het |
Smad9 |
A |
G |
3: 54,696,607 (GRCm39) |
D224G |
probably benign |
Het |
Tle2 |
G |
A |
10: 81,424,706 (GRCm39) |
V678M |
probably damaging |
Het |
Tmc1 |
C |
T |
19: 20,766,954 (GRCm39) |
R749Q |
possibly damaging |
Het |
Tmco3 |
T |
A |
8: 13,342,077 (GRCm39) |
|
probably null |
Het |
Tspoap1 |
A |
G |
11: 87,652,529 (GRCm39) |
E101G |
possibly damaging |
Het |
Zfp57 |
A |
T |
17: 37,321,303 (GRCm39) |
T386S |
probably benign |
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 |
|
R3959:Ppp1r21
|
UTSW |
17 |
88,857,244 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- TGAGAATCAACCAGGCTGGC -3'
(R):5'- TTTCAGACAGGCAGATGGGTC -3'
Sequencing Primer
(F):5'- TGGCTAGCTGCATGCAG -3'
(R):5'- TGGGTCCATGAAGAACACTAG -3'
|
Posted On |
2018-02-27 |