Incidental Mutation 'R2867:Pramel16'
| ID |
266383 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel16
|
| Ensembl Gene |
ENSMUSG00000078511 |
| Gene Name |
PRAME like 16 |
| Synonyms |
Pramef25, Gm13109 |
| MMRRC Submission |
040456-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R2867 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
143675150-143677586 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 143675456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 457
(I457L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101392
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105766]
|
| AlphaFold |
A2ASI9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105766
AA Change: I457L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000101392
Gene: ENSMUSG00000078511
AA Change: I457L
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
223 |
427 |
2e-10 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adss2 |
T |
C |
1: 177,595,378 (GRCm39) |
|
probably null |
Het |
| Arid3c |
T |
C |
4: 41,725,958 (GRCm39) |
D215G |
probably damaging |
Het |
| Birc2 |
A |
C |
9: 7,834,478 (GRCm39) |
M1R |
probably null |
Het |
| Caprin2 |
G |
A |
6: 148,747,738 (GRCm39) |
|
silent |
Het |
| Cog4 |
C |
A |
8: 111,593,291 (GRCm39) |
|
probably benign |
Het |
| Cpz |
T |
C |
5: 35,659,705 (GRCm39) |
K647E |
probably benign |
Het |
| Ctnna2 |
T |
C |
6: 77,091,905 (GRCm39) |
|
probably benign |
Het |
| Cyp7a1 |
T |
C |
4: 6,272,493 (GRCm39) |
E240G |
probably damaging |
Het |
| Dnaaf11 |
A |
T |
15: 66,310,257 (GRCm39) |
L337* |
probably null |
Het |
| Efhc2 |
A |
T |
X: 17,027,484 (GRCm39) |
|
probably benign |
Homo |
| Epha6 |
T |
C |
16: 59,780,659 (GRCm39) |
|
probably null |
Het |
| Evc |
T |
A |
5: 37,473,619 (GRCm39) |
|
probably benign |
Het |
| Fbf1 |
A |
G |
11: 116,052,274 (GRCm39) |
|
probably benign |
Het |
| Grin2b |
A |
G |
6: 135,710,637 (GRCm39) |
F970L |
probably damaging |
Het |
| Gtf3c4 |
A |
G |
2: 28,729,916 (GRCm39) |
|
probably benign |
Het |
| Kcnma1 |
A |
T |
14: 23,423,275 (GRCm39) |
N682K |
probably benign |
Het |
| Kif20b |
A |
G |
19: 34,917,528 (GRCm39) |
E631G |
probably damaging |
Het |
| Lctl |
T |
C |
9: 64,045,150 (GRCm39) |
S550P |
probably benign |
Het |
| Mapk10 |
C |
T |
5: 103,186,548 (GRCm39) |
D25N |
probably benign |
Het |
| Mgst2 |
A |
G |
3: 51,571,954 (GRCm39) |
|
silent |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| N4bp1 |
T |
C |
8: 87,588,033 (GRCm39) |
N302D |
probably benign |
Het |
| Pcdh7 |
A |
T |
5: 57,879,236 (GRCm39) |
K930N |
probably damaging |
Het |
| Proca1 |
A |
T |
11: 78,095,806 (GRCm39) |
N146I |
probably damaging |
Het |
| RP23-211L5.9 |
T |
C |
6: 68,872,634 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
A |
T |
13: 11,776,235 (GRCm39) |
W1101R |
probably damaging |
Het |
| Slc35d3 |
T |
C |
10: 19,725,209 (GRCm39) |
T216A |
probably benign |
Het |
| Terb1 |
C |
T |
8: 105,174,485 (GRCm39) |
|
probably benign |
Het |
| Thnsl2 |
C |
A |
6: 71,108,945 (GRCm39) |
D289Y |
probably damaging |
Het |
| Tigd4 |
A |
G |
3: 84,501,259 (GRCm39) |
N59D |
possibly damaging |
Het |
| Togaram2 |
T |
C |
17: 72,016,592 (GRCm39) |
S649P |
probably benign |
Het |
| Tradd |
G |
T |
8: 105,986,145 (GRCm39) |
F182L |
probably benign |
Het |
| Trav17 |
A |
T |
14: 54,044,383 (GRCm39) |
Y50F |
probably benign |
Het |
| Usp37 |
A |
T |
1: 74,489,691 (GRCm39) |
D808E |
probably damaging |
Het |
| Usp42 |
G |
A |
5: 143,701,219 (GRCm39) |
P935S |
possibly damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,690,123 (GRCm39) |
D333G |
possibly damaging |
Het |
| Zfpm2 |
C |
T |
15: 40,962,785 (GRCm39) |
A149V |
probably benign |
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 |
|
R2894:Pramel16
|
UTSW |
4 |
143,675,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GTTCAGGAACCCCTTGATCATAG -3'
(R):5'- TCCCTGCCCTGAATAAGTGC -3'
Sequencing Primer
(F):5'- GGAACCCCTTGATCATAGACTTG -3'
(R):5'- ATAAGTGCTCTCAGCTCATCGAGG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation