Incidental Mutation 'R2439:Pramel5'
ID |
249726 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel5
|
Ensembl Gene |
ENSMUSG00000036749 |
Gene Name |
PRAME like 5 |
Synonyms |
OTTMUSG00000010540 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
R2439 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
143997203-144007036 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 144000310 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 89
(M89V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101378
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035757]
[ENSMUST00000105752]
|
AlphaFold |
Q7TPY4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035757
AA Change: M89V
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000044222 Gene: ENSMUSG00000036749 AA Change: M89V
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
224 |
411 |
1e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105752
AA Change: M89V
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000101378 Gene: ENSMUSG00000036749 AA Change: M89V
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
224 |
411 |
1e-11 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133357
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144127
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp11b |
C |
A |
3: 35,868,233 (GRCm39) |
T635K |
possibly damaging |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Btla |
G |
T |
16: 45,059,503 (GRCm39) |
C69F |
probably damaging |
Het |
Cdh10 |
T |
G |
15: 19,013,484 (GRCm39) |
L695V |
probably damaging |
Het |
Cfap44 |
C |
T |
16: 44,301,609 (GRCm39) |
|
probably benign |
Het |
Dock10 |
T |
G |
1: 80,510,149 (GRCm39) |
N1560H |
probably damaging |
Het |
Ephb6 |
C |
A |
6: 41,595,669 (GRCm39) |
H809Q |
probably benign |
Het |
Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
Gdf7 |
A |
G |
12: 8,348,050 (GRCm39) |
S416P |
probably damaging |
Het |
Ints8 |
T |
C |
4: 11,225,725 (GRCm39) |
M611V |
probably benign |
Het |
Lypd8l |
A |
G |
11: 58,501,603 (GRCm39) |
C127R |
probably damaging |
Het |
Mical2 |
A |
G |
7: 111,994,002 (GRCm39) |
E504G |
probably damaging |
Het |
Mrps30 |
G |
A |
13: 118,521,808 (GRCm39) |
P231S |
probably damaging |
Het |
Nr1h3 |
T |
C |
2: 91,020,565 (GRCm39) |
D256G |
probably benign |
Het |
Psg18 |
T |
C |
7: 18,080,044 (GRCm39) |
T386A |
probably benign |
Het |
Ptprc |
A |
G |
1: 137,993,890 (GRCm39) |
V1180A |
possibly damaging |
Het |
Rassf8 |
T |
C |
6: 145,761,060 (GRCm39) |
S129P |
probably damaging |
Het |
Rbm6 |
A |
G |
9: 107,656,796 (GRCm39) |
Y994H |
probably damaging |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Slc2a4 |
A |
G |
11: 69,836,451 (GRCm39) |
F222S |
possibly damaging |
Het |
Smarca2 |
T |
C |
19: 26,668,854 (GRCm39) |
|
probably null |
Het |
Tmtc4 |
T |
G |
14: 123,209,315 (GRCm39) |
N110T |
probably damaging |
Het |
Tsc22d1 |
TCAGCAGCAGCAGCAGCAGCAGCAGCA |
TCAGCAGCAGCAGCAGCAGCAGCA |
14: 76,654,707 (GRCm39) |
|
probably benign |
Het |
Umad1 |
T |
A |
6: 8,427,078 (GRCm39) |
D110E |
probably damaging |
Het |
Ylpm1 |
A |
G |
12: 85,060,891 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Pramel5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00336:Pramel5
|
APN |
4 |
143,998,191 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00990:Pramel5
|
APN |
4 |
144,000,549 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01070:Pramel5
|
APN |
4 |
143,997,842 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01298:Pramel5
|
APN |
4 |
143,997,732 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL01653:Pramel5
|
APN |
4 |
144,000,429 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02150:Pramel5
|
APN |
4 |
143,999,771 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02278:Pramel5
|
APN |
4 |
143,998,121 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02671:Pramel5
|
APN |
4 |
143,999,682 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02868:Pramel5
|
APN |
4 |
143,997,922 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02981:Pramel5
|
APN |
4 |
143,999,430 (GRCm39) |
missense |
probably benign |
0.01 |
R0532:Pramel5
|
UTSW |
4 |
143,999,310 (GRCm39) |
missense |
probably benign |
0.03 |
R0646:Pramel5
|
UTSW |
4 |
143,998,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R1328:Pramel5
|
UTSW |
4 |
143,998,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R1902:Pramel5
|
UTSW |
4 |
144,000,433 (GRCm39) |
nonsense |
probably null |
|
R2027:Pramel5
|
UTSW |
4 |
143,998,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R2240:Pramel5
|
UTSW |
4 |
143,999,506 (GRCm39) |
nonsense |
probably null |
|
R3922:Pramel5
|
UTSW |
4 |
143,999,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R4470:Pramel5
|
UTSW |
4 |
143,997,915 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4808:Pramel5
|
UTSW |
4 |
143,999,325 (GRCm39) |
missense |
probably benign |
0.04 |
R4969:Pramel5
|
UTSW |
4 |
143,998,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R5195:Pramel5
|
UTSW |
4 |
143,998,311 (GRCm39) |
missense |
probably benign |
0.01 |
R5198:Pramel5
|
UTSW |
4 |
144,000,064 (GRCm39) |
intron |
probably benign |
|
R5930:Pramel5
|
UTSW |
4 |
143,999,553 (GRCm39) |
missense |
probably benign |
0.43 |
R5988:Pramel5
|
UTSW |
4 |
143,999,716 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6662:Pramel5
|
UTSW |
4 |
143,999,675 (GRCm39) |
missense |
probably benign |
0.32 |
R6988:Pramel5
|
UTSW |
4 |
144,000,577 (GRCm39) |
start gained |
probably benign |
|
R7116:Pramel5
|
UTSW |
4 |
144,000,451 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7638:Pramel5
|
UTSW |
4 |
143,998,010 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8247:Pramel5
|
UTSW |
4 |
143,999,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R8993:Pramel5
|
UTSW |
4 |
143,999,529 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9049:Pramel5
|
UTSW |
4 |
144,000,486 (GRCm39) |
missense |
probably benign |
0.02 |
R9402:Pramel5
|
UTSW |
4 |
143,998,026 (GRCm39) |
missense |
probably benign |
0.15 |
R9632:Pramel5
|
UTSW |
4 |
143,999,545 (GRCm39) |
missense |
probably benign |
0.15 |
R9710:Pramel5
|
UTSW |
4 |
143,999,545 (GRCm39) |
missense |
probably benign |
0.15 |
X0028:Pramel5
|
UTSW |
4 |
143,999,406 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Pramel5
|
UTSW |
4 |
144,000,430 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCTCTGATTTGGGCTACAG -3'
(R):5'- GAAGCCTTGACCATCTCTGC -3'
Sequencing Primer
(F):5'- GTGGCTCACAACCATCTGTAATGAG -3'
(R):5'- TGCTGAACCTGCCTGTG -3'
|
Posted On |
2014-11-12 |