Incidental Mutation 'R8540:Pramel27'
| ID |
659360 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel27
|
| Ensembl Gene |
ENSMUSG00000029451 |
| Gene Name |
PRAME like 27 |
| Synonyms |
Gm13103 |
| MMRRC Submission |
068506-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R8540 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
143573067-143580207 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 143579496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 360
(S360R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092099
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094522]
[ENSMUST00000105768]
[ENSMUST00000139747]
|
| AlphaFold |
Q4VAD2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094522
AA Change: S360R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000092099
Gene: ENSMUSG00000029451
AA Change: S360R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
403 |
413 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105768
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139747
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aebp2 |
A |
T |
6: 140,579,437 (GRCm39) |
I225L |
probably benign |
Het |
| Aebp2 |
A |
G |
6: 140,579,439 (GRCm39) |
I225M |
probably benign |
Het |
| Ap2a1 |
C |
A |
7: 44,553,750 (GRCm39) |
G566C |
probably damaging |
Het |
| Cdk15 |
T |
C |
1: 59,349,992 (GRCm39) |
V328A |
possibly damaging |
Het |
| Cyld |
G |
A |
8: 89,473,568 (GRCm39) |
G929D |
probably damaging |
Het |
| Ddx50 |
G |
A |
10: 62,476,569 (GRCm39) |
L235F |
possibly damaging |
Het |
| Dlg5 |
T |
C |
14: 24,208,767 (GRCm39) |
D813G |
probably damaging |
Het |
| Epb41l3 |
C |
T |
17: 69,593,757 (GRCm39) |
T797M |
probably damaging |
Het |
| Foxred2 |
G |
A |
15: 77,836,212 (GRCm39) |
R382W |
probably damaging |
Het |
| Gm5798 |
T |
A |
14: 41,070,674 (GRCm39) |
I28N |
possibly damaging |
Het |
| Grb14 |
C |
T |
2: 64,851,478 (GRCm39) |
V91M |
probably benign |
Het |
| Ints6 |
T |
C |
14: 62,934,353 (GRCm39) |
D718G |
probably benign |
Het |
| Man2a1 |
C |
A |
17: 64,965,982 (GRCm39) |
H307N |
probably benign |
Het |
| Mylk |
T |
C |
16: 34,750,257 (GRCm39) |
Y1199H |
possibly damaging |
Het |
| Nim1k |
T |
C |
13: 120,175,718 (GRCm39) |
S163G |
probably benign |
Het |
| Or1r1 |
A |
G |
11: 73,875,153 (GRCm39) |
F94L |
probably damaging |
Het |
| Or51f5 |
G |
C |
7: 102,424,339 (GRCm39) |
A203P |
possibly damaging |
Het |
| Or5ac16 |
A |
T |
16: 59,022,323 (GRCm39) |
H155Q |
possibly damaging |
Het |
| Or8h6 |
C |
A |
2: 86,703,776 (GRCm39) |
C97F |
probably damaging |
Het |
| Phyhip |
A |
G |
14: 70,704,594 (GRCm39) |
D271G |
probably benign |
Het |
| Pycr2 |
G |
A |
1: 180,734,178 (GRCm39) |
A187T |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,630,367 (GRCm39) |
E2148V |
probably damaging |
Het |
| Septin12 |
T |
C |
16: 4,805,481 (GRCm39) |
H304R |
probably damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Ssx2ip |
T |
C |
3: 146,124,114 (GRCm39) |
V43A |
probably benign |
Het |
| Syne2 |
A |
T |
12: 76,141,148 (GRCm39) |
N6087Y |
probably damaging |
Het |
| Tbc1d4 |
A |
T |
14: 101,845,712 (GRCm39) |
I62N |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,573,337 (GRCm39) |
G24106D |
probably damaging |
Het |
| Uhrf1 |
T |
A |
17: 56,612,105 (GRCm39) |
I3N |
probably damaging |
Het |
| Urgcp |
A |
C |
11: 5,667,915 (GRCm39) |
L141R |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,274,858 (GRCm39) |
R1777H |
probably benign |
Het |
| Vamp3 |
A |
G |
4: 151,135,507 (GRCm39) |
V37A |
possibly damaging |
Het |
| Vmn1r172 |
C |
T |
7: 23,359,498 (GRCm39) |
L128F |
possibly damaging |
Het |
| Vmn1r76 |
A |
G |
7: 11,664,897 (GRCm39) |
Y71H |
probably damaging |
Het |
| Vmn2r111 |
C |
T |
17: 22,778,023 (GRCm39) |
|
probably null |
Het |
| Vmn2r111 |
T |
A |
17: 22,778,024 (GRCm39) |
N552Y |
probably damaging |
Het |
| Vmn2r81 |
A |
T |
10: 79,129,065 (GRCm39) |
N652I |
probably damaging |
Het |
| Vmn2r87 |
T |
C |
10: 130,314,762 (GRCm39) |
N275D |
possibly damaging |
Het |
| Wrn |
T |
A |
8: 33,842,154 (GRCm39) |
I47F |
probably damaging |
Het |
|
| Other mutations in Pramel27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01363:Pramel27
|
APN |
4 |
143,579,846 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01383:Pramel27
|
APN |
4 |
143,573,102 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01735:Pramel27
|
APN |
4 |
143,578,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01976:Pramel27
|
APN |
4 |
143,579,363 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL03096:Pramel27
|
APN |
4 |
143,577,485 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03280:Pramel27
|
APN |
4 |
143,578,489 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL03295:Pramel27
|
APN |
4 |
143,579,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4342:Pramel27
|
UTSW |
4 |
143,578,213 (GRCm39) |
frame shift |
probably null |
|
|
PIT4687001:Pramel27
|
UTSW |
4 |
143,573,103 (GRCm39) |
start gained |
probably benign |
|
|
R0218:Pramel27
|
UTSW |
4 |
143,578,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0612:Pramel27
|
UTSW |
4 |
143,578,658 (GRCm39) |
unclassified |
probably benign |
|
|
R1755:Pramel27
|
UTSW |
4 |
143,577,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2509:Pramel27
|
UTSW |
4 |
143,578,561 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2510:Pramel27
|
UTSW |
4 |
143,578,561 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2511:Pramel27
|
UTSW |
4 |
143,578,561 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4603:Pramel27
|
UTSW |
4 |
143,579,451 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4694:Pramel27
|
UTSW |
4 |
143,579,530 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4856:Pramel27
|
UTSW |
4 |
143,579,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4886:Pramel27
|
UTSW |
4 |
143,579,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4927:Pramel27
|
UTSW |
4 |
143,578,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5168:Pramel27
|
UTSW |
4 |
143,579,768 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5270:Pramel27
|
UTSW |
4 |
143,578,468 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5402:Pramel27
|
UTSW |
4 |
143,578,225 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5618:Pramel27
|
UTSW |
4 |
143,577,263 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6078:Pramel27
|
UTSW |
4 |
143,578,155 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6138:Pramel27
|
UTSW |
4 |
143,578,155 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6362:Pramel27
|
UTSW |
4 |
143,579,435 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6526:Pramel27
|
UTSW |
4 |
143,579,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6555:Pramel27
|
UTSW |
4 |
143,578,140 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6595:Pramel27
|
UTSW |
4 |
143,579,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6675:Pramel27
|
UTSW |
4 |
143,579,828 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7216:Pramel27
|
UTSW |
4 |
143,578,399 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7282:Pramel27
|
UTSW |
4 |
143,578,451 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7424:Pramel27
|
UTSW |
4 |
143,579,779 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7511:Pramel27
|
UTSW |
4 |
143,573,116 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7591:Pramel27
|
UTSW |
4 |
143,577,481 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7868:Pramel27
|
UTSW |
4 |
143,578,154 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8192:Pramel27
|
UTSW |
4 |
143,578,109 (GRCm39) |
nonsense |
probably null |
|
|
R8244:Pramel27
|
UTSW |
4 |
143,579,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8256:Pramel27
|
UTSW |
4 |
143,578,255 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8531:Pramel27
|
UTSW |
4 |
143,579,601 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8793:Pramel27
|
UTSW |
4 |
143,577,627 (GRCm39) |
intron |
probably benign |
|
|
R8880:Pramel27
|
UTSW |
4 |
143,573,140 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9069:Pramel27
|
UTSW |
4 |
143,578,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9603:Pramel27
|
UTSW |
4 |
143,578,267 (GRCm39) |
missense |
|
|
|
R9748:Pramel27
|
UTSW |
4 |
143,579,892 (GRCm39) |
makesense |
probably null |
|
|
R9797:Pramel27
|
UTSW |
4 |
143,579,818 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
U15987:Pramel27
|
UTSW |
4 |
143,578,155 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
Z1176:Pramel27
|
UTSW |
4 |
143,579,680 (GRCm39) |
missense |
probably benign |
0.22 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTGCCTGAAGAAGCCATTG -3'
(R):5'- CTGTCATCATAGCACTCAAGAGGG -3'
Sequencing Primer
(F):5'- TGCCTGAAGAAGCCATTGGTATC -3'
(R):5'- GGGATACATCTCATAGCTCAGCTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation