Incidental Mutation 'R6555:Pramel27'
| ID |
522073 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel27
|
| Ensembl Gene |
ENSMUSG00000029451 |
| Gene Name |
PRAME like 27 |
| Synonyms |
Gm13103 |
| MMRRC Submission |
044680-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R6555 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
143573067-143580207 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 143578140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 133
(I133M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092099
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094522]
[ENSMUST00000105768]
[ENSMUST00000139747]
|
| AlphaFold |
Q4VAD2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094522
AA Change: I133M
PolyPhen 2
Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000092099
Gene: ENSMUSG00000029451
AA Change: I133M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
403 |
413 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105768
AA Change: I133M
PolyPhen 2
Score 0.569 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139747
AA Change: I82M
PolyPhen 2
Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)
|
| Meta Mutation Damage Score |
0.2055 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
G |
5: 8,752,468 (GRCm39) |
I480V |
probably damaging |
Het |
| Akap1 |
A |
T |
11: 88,735,708 (GRCm39) |
I351N |
probably damaging |
Het |
| C1qtnf3 |
A |
G |
15: 10,975,742 (GRCm39) |
M256V |
probably damaging |
Het |
| Carm1 |
T |
A |
9: 21,498,258 (GRCm39) |
C421S |
probably damaging |
Het |
| Celsr2 |
T |
C |
3: 108,302,235 (GRCm39) |
D2631G |
probably damaging |
Het |
| Cfap206 |
A |
G |
4: 34,719,049 (GRCm39) |
V319A |
probably damaging |
Het |
| Cntnap2 |
T |
A |
6: 46,736,694 (GRCm39) |
W707R |
probably damaging |
Het |
| Ctss |
T |
A |
3: 95,450,340 (GRCm39) |
L97* |
probably null |
Het |
| Eif2ak4 |
A |
T |
2: 118,258,350 (GRCm39) |
N455Y |
probably damaging |
Het |
| Ercc6 |
G |
A |
14: 32,239,064 (GRCm39) |
E51K |
probably benign |
Het |
| Gm10318 |
G |
A |
10: 77,688,855 (GRCm39) |
|
probably benign |
Het |
| Gp6 |
C |
T |
7: 4,387,929 (GRCm39) |
R180Q |
probably damaging |
Het |
| Gtsf1 |
T |
C |
15: 103,333,902 (GRCm39) |
I25V |
probably damaging |
Het |
| Igkv1-99 |
A |
G |
6: 68,519,300 (GRCm39) |
R85G |
probably damaging |
Het |
| Il36a |
G |
A |
2: 24,114,611 (GRCm39) |
|
probably null |
Het |
| Iqsec3 |
T |
C |
6: 121,361,178 (GRCm39) |
H935R |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,380,965 (GRCm39) |
V94A |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,339,647 (GRCm39) |
K1088R |
probably benign |
Het |
| Lsm3 |
GATATATA |
GATATATATA |
6: 91,496,617 (GRCm39) |
|
probably null |
Het |
| Lyst |
A |
G |
13: 13,823,510 (GRCm39) |
N1494S |
probably benign |
Het |
| Mta3 |
C |
T |
17: 84,015,875 (GRCm39) |
R26W |
probably damaging |
Het |
| Nup88 |
T |
C |
11: 70,835,006 (GRCm39) |
R660G |
possibly damaging |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Or4q3 |
G |
A |
14: 50,583,303 (GRCm39) |
Q168* |
probably null |
Het |
| Or5d16 |
T |
A |
2: 87,773,632 (GRCm39) |
E113D |
probably damaging |
Het |
| Or8b51 |
C |
A |
9: 38,569,585 (GRCm39) |
M34I |
probably benign |
Het |
| Pcdhga10 |
A |
G |
18: 37,882,488 (GRCm39) |
T750A |
probably damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,937,473 (GRCm39) |
|
probably null |
Het |
| Ppip5k1 |
T |
C |
2: 121,168,093 (GRCm39) |
E720G |
probably damaging |
Het |
| Ptprn2 |
T |
C |
12: 117,190,820 (GRCm39) |
Y786H |
probably damaging |
Het |
| Safb2 |
A |
G |
17: 56,874,600 (GRCm39) |
V614A |
probably damaging |
Het |
| Safb2 |
A |
G |
17: 56,889,982 (GRCm39) |
|
probably null |
Het |
| Selp |
C |
T |
1: 163,969,171 (GRCm39) |
|
probably null |
Het |
| Slc16a10 |
T |
C |
10: 39,956,774 (GRCm39) |
I122V |
probably benign |
Het |
| Slc22a22 |
G |
A |
15: 57,122,527 (GRCm39) |
T131M |
probably benign |
Het |
| Trmt2a |
A |
T |
16: 18,071,067 (GRCm39) |
I574F |
probably benign |
Het |
| Tsen54 |
C |
T |
11: 115,711,519 (GRCm39) |
T156I |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,846,993 (GRCm39) |
N2592S |
probably damaging |
Het |
| Wdr64 |
G |
A |
1: 175,547,856 (GRCm39) |
R131H |
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 |
|
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 |
|
R8540:Pramel27
|
UTSW |
4 |
143,579,496 (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'- AGAGGGTTGATTTTAGGCACAG -3'
(R):5'- AAGCTTTGAATTACCAGCTTCCTAC -3'
Sequencing Primer
(F):5'- TTGATTTTAGGCACAGGAAAAAGC -3'
(R):5'- CCAGCTTCCTACAGAATAGATGAATG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation