Incidental Mutation 'R9603:Pramel27'
| ID |
723780 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel27
|
| Ensembl Gene |
ENSMUSG00000029451 |
| Gene Name |
PRAME like 27 |
| Synonyms |
Gm13103 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R9603 (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 C
at 143578267 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 176
(S176P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092099
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094522]
[ENSMUST00000105768]
[ENSMUST00000139747]
|
| AlphaFold |
Q4VAD2 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000092099
Gene: ENSMUSG00000029451
AA Change: S176P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
403 |
413 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105768
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139747
AA Change: S125P
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
A |
T |
11: 54,225,911 (GRCm39) |
N317I |
probably damaging |
Het |
| Adam18 |
T |
A |
8: 25,118,147 (GRCm39) |
S590C |
possibly damaging |
Het |
| Btrc |
G |
A |
19: 45,459,526 (GRCm39) |
E103K |
probably benign |
Het |
| Cars1 |
A |
G |
7: 143,112,929 (GRCm39) |
M766T |
possibly damaging |
Het |
| Cavin4 |
T |
C |
4: 48,671,999 (GRCm39) |
V148A |
probably benign |
Het |
| Cdcp3 |
T |
C |
7: 130,830,643 (GRCm39) |
V359A |
probably damaging |
Het |
| Cdkn2d |
T |
C |
9: 21,202,139 (GRCm39) |
D36G |
possibly damaging |
Het |
| Cubn |
A |
T |
2: 13,292,510 (GRCm39) |
D3224E |
probably damaging |
Het |
| Ebf1 |
A |
G |
11: 44,509,006 (GRCm39) |
M1V |
probably null |
Het |
| Eif1ad7 |
T |
G |
12: 88,238,727 (GRCm39) |
N11T |
unknown |
Het |
| Fcgbp |
A |
G |
7: 27,802,563 (GRCm39) |
D1497G |
probably damaging |
Het |
| Foxs1 |
A |
C |
2: 152,774,281 (GRCm39) |
C257W |
probably damaging |
Het |
| Fstl5 |
C |
T |
3: 76,496,260 (GRCm39) |
P341L |
probably damaging |
Het |
| Fzd10 |
G |
A |
5: 128,678,771 (GRCm39) |
G164S |
probably benign |
Het |
| Hrh3 |
C |
A |
2: 179,742,444 (GRCm39) |
E395* |
probably null |
Het |
| Hsf4 |
G |
A |
8: 105,999,435 (GRCm39) |
V318M |
probably damaging |
Het |
| Il21 |
T |
C |
3: 37,281,949 (GRCm39) |
E65G |
possibly damaging |
Het |
| Kank1 |
A |
G |
19: 25,408,289 (GRCm39) |
D1256G |
possibly damaging |
Het |
| Klhl22 |
A |
G |
16: 17,594,915 (GRCm39) |
N348S |
possibly damaging |
Het |
| Krr1 |
T |
C |
10: 111,812,672 (GRCm39) |
I94T |
probably damaging |
Het |
| Lpin2 |
A |
G |
17: 71,550,410 (GRCm39) |
D724G |
probably damaging |
Het |
| Mn1 |
C |
A |
5: 111,566,393 (GRCm39) |
P121Q |
probably damaging |
Het |
| Mphosph9 |
A |
T |
5: 124,463,015 (GRCm39) |
L10* |
probably null |
Het |
| Mtus1 |
A |
T |
8: 41,536,795 (GRCm39) |
V307E |
probably benign |
Het |
| Muc20 |
A |
G |
16: 32,615,155 (GRCm39) |
L74P |
probably damaging |
Het |
| Nnat |
A |
G |
2: 157,403,701 (GRCm39) |
*113W |
probably null |
Het |
| Or13a25 |
G |
T |
7: 140,247,794 (GRCm39) |
C191F |
probably damaging |
Het |
| Or2f1b |
C |
T |
6: 42,739,672 (GRCm39) |
Q229* |
probably null |
Het |
| Or4f14 |
A |
G |
2: 111,743,128 (GRCm39) |
V49A |
possibly damaging |
Het |
| Or6b6 |
A |
T |
7: 106,571,103 (GRCm39) |
Y149* |
probably null |
Het |
| Pkm |
T |
A |
9: 59,577,831 (GRCm39) |
V216E |
probably damaging |
Het |
| Pla2g12a |
G |
A |
3: 129,674,900 (GRCm39) |
V19I |
unknown |
Het |
| Rai14 |
G |
A |
15: 10,595,116 (GRCm39) |
Q136* |
probably null |
Het |
| Rnf150 |
T |
A |
8: 83,717,208 (GRCm39) |
N238K |
possibly damaging |
Het |
| Rrp1 |
A |
G |
10: 78,240,757 (GRCm39) |
|
probably null |
Het |
| Scaf8 |
T |
A |
17: 3,246,070 (GRCm39) |
L720M |
possibly damaging |
Het |
| Slamf1 |
G |
T |
1: 171,625,771 (GRCm39) |
V316L |
probably damaging |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc25a20 |
T |
C |
9: 108,549,675 (GRCm39) |
F86L |
probably benign |
Het |
| Slc4a5 |
T |
G |
6: 83,217,714 (GRCm39) |
S131A |
probably benign |
Het |
| Slitrk3 |
A |
G |
3: 72,958,649 (GRCm39) |
I41T |
probably benign |
Het |
| Sntg1 |
A |
T |
1: 8,748,198 (GRCm39) |
L94Q |
probably damaging |
Het |
| St18 |
T |
C |
1: 6,915,811 (GRCm39) |
C819R |
probably damaging |
Het |
| St6galnac3 |
T |
A |
3: 153,117,177 (GRCm39) |
D182V |
probably benign |
Het |
| Tubgcp2 |
T |
A |
7: 139,584,789 (GRCm39) |
T549S |
probably benign |
Het |
| Vim |
A |
T |
2: 13,579,148 (GRCm39) |
|
probably benign |
Het |
| Vmn2r118 |
C |
A |
17: 55,899,837 (GRCm39) |
R689I |
probably damaging |
Het |
| Zbtb41 |
A |
T |
1: 139,375,255 (GRCm39) |
E905V |
probably damaging |
Het |
| Zfyve9 |
A |
T |
4: 108,499,288 (GRCm39) |
D1284E |
possibly 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 |
|
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 |
|
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'- CACAGTAGGTGCAAACTCAAAG -3'
(R):5'- AGATTGTCCATCTGTCTCAGGTAG -3'
Sequencing Primer
(F):5'- TGCAAACTCAAAGAGATCAGTTG -3'
(R):5'- CCATCTGTCTCAGGTAGGGATTAAG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation