Incidental Mutation 'R3922:Pramel5'
ID |
306976 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pramel5
|
Ensembl Gene |
ENSMUSG00000036749 |
Gene Name |
PRAME like 5 |
Synonyms |
OTTMUSG00000010540 |
MMRRC Submission |
040819-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.129)
|
Stock # |
R3922 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
143997203-144007036 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 143999622 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 155
(L155P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101378
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035757]
[ENSMUST00000105752]
|
AlphaFold |
Q7TPY4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035757
AA Change: L155P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044222 Gene: ENSMUSG00000036749 AA Change: L155P
Domain | Start | End | E-Value | Type |
SCOP:d1a4ya_
|
224 |
411 |
1e-11 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105752
AA Change: L155P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101378 Gene: ENSMUSG00000036749 AA Change: L155P
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
|
Meta Mutation Damage Score |
0.5208 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
4921504E06Rik |
T |
A |
2: 19,485,371 (GRCm39) |
E432V |
probably benign |
Het |
Ahnak |
G |
A |
19: 8,983,692 (GRCm39) |
D1659N |
probably benign |
Het |
Arfgap2 |
C |
T |
2: 91,105,150 (GRCm39) |
R405W |
probably damaging |
Het |
Arhgef28 |
A |
G |
13: 98,130,452 (GRCm39) |
L462P |
possibly damaging |
Het |
Arid1b |
T |
C |
17: 5,393,316 (GRCm39) |
V2282A |
probably damaging |
Het |
Becn2 |
T |
C |
1: 175,748,852 (GRCm39) |
V306A |
probably benign |
Het |
Cdkl1 |
G |
T |
12: 69,803,373 (GRCm39) |
R168S |
probably damaging |
Het |
Cep70 |
T |
A |
9: 99,157,632 (GRCm39) |
*117R |
probably null |
Het |
Cnnm1 |
A |
G |
19: 43,428,884 (GRCm39) |
M1V |
probably null |
Het |
Cntrl |
A |
G |
2: 35,019,751 (GRCm39) |
E526G |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Ddx59 |
T |
A |
1: 136,344,482 (GRCm39) |
V51D |
probably benign |
Het |
Dtd2 |
G |
C |
12: 52,051,734 (GRCm39) |
|
probably null |
Het |
Eea1 |
T |
A |
10: 95,872,495 (GRCm39) |
N1068K |
probably benign |
Het |
Egfr |
T |
A |
11: 16,831,495 (GRCm39) |
C555S |
probably damaging |
Het |
Esd |
A |
T |
14: 74,980,667 (GRCm39) |
Q130H |
probably benign |
Het |
Gpr89 |
A |
T |
3: 96,798,215 (GRCm39) |
I147N |
probably damaging |
Het |
H2-M10.1 |
T |
A |
17: 36,636,577 (GRCm39) |
I76L |
probably benign |
Het |
Lgi4 |
A |
T |
7: 30,766,873 (GRCm39) |
D300V |
probably benign |
Het |
Lrp1b |
C |
A |
2: 40,567,593 (GRCm39) |
V276L |
unknown |
Het |
Lrp2 |
T |
C |
2: 69,336,720 (GRCm39) |
K1351E |
probably benign |
Het |
Mroh8 |
T |
C |
2: 157,064,731 (GRCm39) |
I782V |
probably benign |
Het |
Msrb1 |
T |
C |
17: 24,959,057 (GRCm39) |
S70P |
probably damaging |
Het |
Nek10 |
T |
C |
14: 14,861,585 (GRCm38) |
M547T |
possibly damaging |
Het |
Or51ah3 |
T |
C |
7: 103,209,912 (GRCm39) |
V76A |
probably benign |
Het |
Or6c2b |
C |
A |
10: 128,947,482 (GRCm39) |
V271F |
possibly damaging |
Het |
Or9i2 |
T |
C |
19: 13,816,130 (GRCm39) |
T136A |
probably damaging |
Het |
P4htm |
T |
C |
9: 108,460,094 (GRCm39) |
N227D |
probably benign |
Het |
Plekhm2 |
T |
C |
4: 141,356,843 (GRCm39) |
T787A |
probably benign |
Het |
Sbno1 |
T |
C |
5: 124,519,993 (GRCm39) |
Y1122C |
probably damaging |
Het |
Scn9a |
T |
A |
2: 66,357,217 (GRCm39) |
D1028V |
possibly damaging |
Het |
Sft2d1 |
G |
T |
17: 8,537,714 (GRCm39) |
L34F |
possibly damaging |
Het |
Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
Slc27a3 |
G |
T |
3: 90,294,392 (GRCm39) |
H460N |
possibly damaging |
Het |
Slc35g2 |
A |
T |
9: 100,434,780 (GRCm39) |
I297N |
probably benign |
Het |
Ssh1 |
T |
G |
5: 114,080,769 (GRCm39) |
Q865P |
possibly damaging |
Het |
Trp63 |
A |
G |
16: 25,707,759 (GRCm39) |
D583G |
probably damaging |
Het |
Usp28 |
T |
C |
9: 48,942,223 (GRCm39) |
|
probably null |
Het |
Wdr43 |
A |
G |
17: 71,945,296 (GRCm39) |
|
probably benign |
Het |
Zfhx4 |
A |
G |
3: 5,465,707 (GRCm39) |
Y1955C |
probably damaging |
Het |
Zfp108 |
G |
A |
7: 23,960,773 (GRCm39) |
G455R |
probably damaging |
Het |
Zfp353-ps |
A |
T |
8: 42,536,049 (GRCm39) |
|
noncoding transcript |
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 |
|
R2439:Pramel5
|
UTSW |
4 |
144,000,310 (GRCm39) |
missense |
probably benign |
0.01 |
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'- TAGGTCTGCAAGGTCAGGAG -3'
(R):5'- GAACCTACAAGTGCTTGATTTGGG -3'
Sequencing Primer
(F):5'- TCTGCAAGGTCAGGAGGTCTC -3'
(R):5'- ACAAGTGCTTGATTTGGGAAATGCC -3'
|
Posted On |
2015-04-17 |