Incidental Mutation 'R2894:Pramel16'
ID |
260690 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel16
|
Ensembl Gene |
ENSMUSG00000078511 |
Gene Name |
PRAME like 16 |
Synonyms |
Pramef25, Gm13109 |
MMRRC Submission |
040482-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R2894 (G1)
|
Quality Score |
153 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
143675150-143677586 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 143675692 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 378
(M378K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101392
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105766]
|
AlphaFold |
A2ASI9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105766
AA Change: M378K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101392 Gene: ENSMUSG00000078511 AA Change: M378K
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
223 |
427 |
2e-10 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
Acox3 |
A |
G |
5: 35,757,192 (GRCm39) |
I344V |
probably benign |
Het |
Ank2 |
T |
C |
3: 127,041,892 (GRCm39) |
|
probably null |
Het |
Ccl4 |
C |
A |
11: 83,554,329 (GRCm39) |
|
probably null |
Het |
Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
Cdk5rap2 |
T |
C |
4: 70,208,110 (GRCm39) |
K779E |
probably benign |
Het |
Cenpu |
C |
A |
8: 47,029,384 (GRCm39) |
N212K |
probably damaging |
Het |
Dcun1d2 |
A |
T |
8: 13,328,649 (GRCm39) |
I86N |
probably damaging |
Het |
Dnah1 |
T |
A |
14: 31,020,718 (GRCm39) |
E1217V |
possibly damaging |
Het |
Dusp15 |
T |
C |
2: 152,791,005 (GRCm39) |
I31V |
probably benign |
Het |
Ern2 |
A |
C |
7: 121,780,810 (GRCm39) |
S114A |
possibly damaging |
Het |
F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
Fmo6 |
C |
T |
1: 162,750,293 (GRCm39) |
W254* |
probably null |
Het |
Gm16494 |
T |
C |
17: 47,327,632 (GRCm39) |
E84G |
unknown |
Het |
Kdr |
A |
G |
5: 76,107,496 (GRCm39) |
F1016L |
probably damaging |
Het |
Lrrc37a |
G |
A |
11: 103,388,690 (GRCm39) |
T2245I |
unknown |
Het |
Mdga1 |
T |
C |
17: 30,071,478 (GRCm39) |
Y381C |
probably damaging |
Het |
Msh3 |
G |
T |
13: 92,478,868 (GRCm39) |
A367D |
probably benign |
Het |
Nadk |
A |
G |
4: 155,671,817 (GRCm39) |
N232S |
possibly damaging |
Het |
Or51e1 |
A |
G |
7: 102,358,882 (GRCm39) |
T139A |
probably damaging |
Het |
Or7g29 |
A |
T |
9: 19,286,588 (GRCm39) |
Y196* |
probably null |
Het |
Per2 |
C |
A |
1: 91,373,325 (GRCm39) |
Q154H |
probably damaging |
Het |
Pik3ap1 |
G |
A |
19: 41,364,500 (GRCm39) |
A73V |
probably benign |
Het |
Rad18 |
G |
A |
6: 112,652,734 (GRCm39) |
Q288* |
probably null |
Het |
Rarb |
T |
C |
14: 16,435,146 (GRCm38) |
D300G |
probably damaging |
Het |
Ruvbl1 |
C |
T |
6: 88,456,114 (GRCm39) |
R63W |
possibly damaging |
Het |
Setdb2 |
T |
C |
14: 59,663,916 (GRCm39) |
N77S |
probably benign |
Het |
Slc22a19 |
C |
A |
19: 7,670,169 (GRCm39) |
K228N |
probably benign |
Het |
Thoc6 |
A |
G |
17: 23,888,009 (GRCm39) |
S292P |
probably damaging |
Het |
Tmem126b |
A |
T |
7: 90,120,121 (GRCm39) |
S83R |
probably damaging |
Het |
Tmem232 |
C |
T |
17: 65,757,408 (GRCm39) |
E262K |
probably damaging |
Het |
Vmn2r60 |
T |
C |
7: 41,785,220 (GRCm39) |
V144A |
probably benign |
Het |
Vpreb3 |
C |
T |
10: 75,779,056 (GRCm39) |
|
probably benign |
Het |
Vwa8 |
A |
G |
14: 79,275,578 (GRCm39) |
N787S |
probably damaging |
Het |
|
Other mutations in Pramel16 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01012:Pramel16
|
APN |
4 |
143,676,784 (GRCm39) |
splice site |
probably benign |
|
IGL01562:Pramel16
|
APN |
4 |
143,677,435 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02422:Pramel16
|
APN |
4 |
143,676,453 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02632:Pramel16
|
APN |
4 |
143,676,507 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL02745:Pramel16
|
APN |
4 |
143,677,294 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02808:Pramel16
|
APN |
4 |
143,677,585 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL02883:Pramel16
|
APN |
4 |
143,676,418 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL02961:Pramel16
|
APN |
4 |
143,675,717 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03092:Pramel16
|
APN |
4 |
143,676,767 (GRCm39) |
missense |
probably damaging |
0.97 |
FR4340:Pramel16
|
UTSW |
4 |
143,676,312 (GRCm39) |
missense |
probably damaging |
0.99 |
FR4342:Pramel16
|
UTSW |
4 |
143,676,327 (GRCm39) |
frame shift |
probably null |
|
FR4342:Pramel16
|
UTSW |
4 |
143,676,312 (GRCm39) |
missense |
probably damaging |
0.99 |
R0533:Pramel16
|
UTSW |
4 |
143,677,290 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0606:Pramel16
|
UTSW |
4 |
143,676,453 (GRCm39) |
missense |
probably benign |
0.25 |
R1624:Pramel16
|
UTSW |
4 |
143,676,400 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1898:Pramel16
|
UTSW |
4 |
143,677,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R2029:Pramel16
|
UTSW |
4 |
143,676,453 (GRCm39) |
missense |
probably benign |
0.25 |
R2867:Pramel16
|
UTSW |
4 |
143,675,456 (GRCm39) |
missense |
probably benign |
0.00 |
R2867:Pramel16
|
UTSW |
4 |
143,675,456 (GRCm39) |
missense |
probably benign |
0.00 |
R4111:Pramel16
|
UTSW |
4 |
143,676,475 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4298:Pramel16
|
UTSW |
4 |
143,675,713 (GRCm39) |
nonsense |
probably null |
|
R4360:Pramel16
|
UTSW |
4 |
143,677,433 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4361:Pramel16
|
UTSW |
4 |
143,677,433 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5137:Pramel16
|
UTSW |
4 |
143,675,690 (GRCm39) |
missense |
probably benign |
0.08 |
R5195:Pramel16
|
UTSW |
4 |
143,677,450 (GRCm39) |
missense |
probably damaging |
0.99 |
R5312:Pramel16
|
UTSW |
4 |
143,675,665 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5548:Pramel16
|
UTSW |
4 |
143,676,550 (GRCm39) |
missense |
probably benign |
0.24 |
R5591:Pramel16
|
UTSW |
4 |
143,675,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R5644:Pramel16
|
UTSW |
4 |
143,675,374 (GRCm39) |
missense |
probably benign |
0.01 |
R6018:Pramel16
|
UTSW |
4 |
143,677,469 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6177:Pramel16
|
UTSW |
4 |
143,675,576 (GRCm39) |
missense |
possibly damaging |
0.51 |
R6335:Pramel16
|
UTSW |
4 |
143,675,602 (GRCm39) |
missense |
probably benign |
0.02 |
R6376:Pramel16
|
UTSW |
4 |
143,677,267 (GRCm39) |
missense |
probably benign |
0.03 |
R6572:Pramel16
|
UTSW |
4 |
143,676,262 (GRCm39) |
missense |
probably benign |
0.01 |
R6845:Pramel16
|
UTSW |
4 |
143,676,394 (GRCm39) |
missense |
probably benign |
|
R6939:Pramel16
|
UTSW |
4 |
143,675,366 (GRCm39) |
missense |
probably benign |
0.09 |
R7081:Pramel16
|
UTSW |
4 |
143,675,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R7505:Pramel16
|
UTSW |
4 |
143,676,273 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7711:Pramel16
|
UTSW |
4 |
143,675,822 (GRCm39) |
missense |
probably benign |
0.22 |
R8284:Pramel16
|
UTSW |
4 |
143,676,695 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8297:Pramel16
|
UTSW |
4 |
143,675,690 (GRCm39) |
missense |
probably benign |
0.08 |
R8299:Pramel16
|
UTSW |
4 |
143,677,327 (GRCm39) |
missense |
probably benign |
0.24 |
R8700:Pramel16
|
UTSW |
4 |
143,675,701 (GRCm39) |
missense |
possibly damaging |
0.51 |
R9179:Pramel16
|
UTSW |
4 |
143,676,294 (GRCm39) |
missense |
probably benign |
0.01 |
R9199:Pramel16
|
UTSW |
4 |
143,675,656 (GRCm39) |
missense |
probably damaging |
1.00 |
R9214:Pramel16
|
UTSW |
4 |
143,675,750 (GRCm39) |
missense |
probably benign |
0.00 |
R9411:Pramel16
|
UTSW |
4 |
143,676,215 (GRCm39) |
missense |
probably damaging |
1.00 |
RF011:Pramel16
|
UTSW |
4 |
143,675,478 (GRCm39) |
missense |
probably damaging |
0.96 |
RF013:Pramel16
|
UTSW |
4 |
143,675,478 (GRCm39) |
missense |
probably damaging |
0.96 |
RF021:Pramel16
|
UTSW |
4 |
143,675,478 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1176:Pramel16
|
UTSW |
4 |
143,676,693 (GRCm39) |
missense |
probably benign |
0.13 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGCTCTAAGAACAAAACCGG -3'
(R):5'- TGGAGTTCCTGTCAATTGCTC -3'
Sequencing Primer
(F):5'- CGGTTTCATAGCACTCCAGAG -3'
(R):5'- TCTCTGCAAGTACTCACAGTCAG -3'
|
Posted On |
2015-01-23 |