Incidental Mutation 'R6728:Platr25'
ID |
529952 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Platr25
|
Ensembl Gene |
ENSMUSG00000074863 |
Gene Name |
pluripotency associated transcript 25 |
Synonyms |
Gm5665, 6720490N10Rik |
MMRRC Submission |
044846-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.110)
|
Stock # |
R6728 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
62819598-62908523 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 62848197 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 222
(H222Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152625
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000143260]
[ENSMUST00000220733]
[ENSMUST00000222303]
[ENSMUST00000222477]
[ENSMUST00000222602]
[ENSMUST00000223219]
[ENSMUST00000223528]
|
AlphaFold |
A0A1Y7VIZ1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000143260
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220733
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222303
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222477
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000222602
AA Change: H222Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223219
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223528
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
C |
14: 32,384,645 (GRCm39) |
Y440C |
possibly damaging |
Het |
Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
Adcy5 |
T |
A |
16: 34,977,535 (GRCm39) |
V356E |
possibly damaging |
Het |
Agmat |
G |
T |
4: 141,476,897 (GRCm39) |
C101F |
probably benign |
Het |
Aoc1l3 |
T |
C |
6: 48,965,779 (GRCm39) |
S596P |
possibly damaging |
Het |
Atl1 |
T |
C |
12: 69,994,324 (GRCm39) |
V276A |
possibly damaging |
Het |
Barhl1 |
G |
A |
2: 28,805,495 (GRCm39) |
P66L |
probably benign |
Het |
Camk4 |
A |
T |
18: 33,317,992 (GRCm39) |
E383V |
probably benign |
Het |
Cap2 |
G |
A |
13: 46,793,335 (GRCm39) |
E234K |
possibly damaging |
Het |
Col24a1 |
A |
T |
3: 145,020,957 (GRCm39) |
M443L |
probably benign |
Het |
Cyp17a1 |
A |
G |
19: 46,657,673 (GRCm39) |
V293A |
probably benign |
Het |
Epha6 |
C |
A |
16: 60,245,198 (GRCm39) |
A334S |
possibly damaging |
Het |
Frmpd1 |
T |
C |
4: 45,284,664 (GRCm39) |
S1162P |
probably benign |
Het |
Hspbp1 |
T |
A |
7: 4,663,781 (GRCm39) |
M355L |
possibly damaging |
Het |
Insrr |
C |
T |
3: 87,720,873 (GRCm39) |
R1044C |
probably damaging |
Het |
Kin |
G |
A |
2: 10,094,959 (GRCm39) |
R82Q |
possibly damaging |
Het |
Ninl |
G |
T |
2: 150,817,777 (GRCm39) |
S129* |
probably null |
Het |
Or11h4 |
T |
C |
14: 50,974,296 (GRCm39) |
T108A |
possibly damaging |
Het |
Or4k35 |
A |
T |
2: 111,100,018 (GRCm39) |
D231E |
probably benign |
Het |
Paqr5 |
C |
T |
9: 61,871,065 (GRCm39) |
R171Q |
probably damaging |
Het |
Plcb2 |
G |
T |
2: 118,554,171 (GRCm39) |
S94Y |
probably damaging |
Het |
Rock2 |
T |
C |
12: 17,011,737 (GRCm39) |
Y722H |
probably benign |
Het |
Sh3kbp1 |
A |
T |
X: 158,624,176 (GRCm39) |
E39D |
probably benign |
Homo |
Thsd4 |
T |
C |
9: 59,904,480 (GRCm39) |
D572G |
probably benign |
Het |
Tnrc6b |
T |
A |
15: 80,802,727 (GRCm39) |
L1510H |
probably damaging |
Het |
Tsc2 |
A |
G |
17: 24,840,098 (GRCm39) |
S433P |
probably damaging |
Het |
Vegfc |
T |
C |
8: 54,639,057 (GRCm39) |
V401A |
probably damaging |
Het |
Vwa3b |
A |
G |
1: 37,196,453 (GRCm39) |
M27V |
probably damaging |
Het |
|
Other mutations in Platr25 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R6272:Platr25
|
UTSW |
13 |
62,820,811 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6379:Platr25
|
UTSW |
13 |
62,854,051 (GRCm39) |
missense |
probably damaging |
1.00 |
R6548:Platr25
|
UTSW |
13 |
62,821,623 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6951:Platr25
|
UTSW |
13 |
62,853,562 (GRCm39) |
missense |
probably benign |
0.00 |
R7365:Platr25
|
UTSW |
13 |
62,848,719 (GRCm39) |
missense |
probably benign |
|
R7885:Platr25
|
UTSW |
13 |
62,848,676 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8114:Platr25
|
UTSW |
13 |
62,821,738 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8331:Platr25
|
UTSW |
13 |
62,848,717 (GRCm39) |
missense |
probably benign |
0.01 |
R8514:Platr25
|
UTSW |
13 |
62,848,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R8754:Platr25
|
UTSW |
13 |
62,847,924 (GRCm39) |
makesense |
probably null |
|
R8822:Platr25
|
UTSW |
13 |
62,848,658 (GRCm39) |
missense |
probably benign |
0.45 |
R9011:Platr25
|
UTSW |
13 |
62,848,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R9038:Platr25
|
UTSW |
13 |
62,848,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGAGGGTTTCTTGCCAAT -3'
(R):5'- TCTCCAAAAGCATAGAAGGACAC -3'
Sequencing Primer
(F):5'- GCTTTTGAAGATGCCTGTGACATAC -3'
(R):5'- GCATAGAAGGACACACACAGG -3'
|
Posted On |
2018-08-01 |