Incidental Mutation 'R3087:Pramel25'
| ID |
262859 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel25
|
| Ensembl Gene |
ENSMUSG00000066031 |
| Gene Name |
PRAME like 25 |
| Synonyms |
MGC:91194, Gm13023 |
| MMRRC Submission |
040576-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R3087 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
143515922-143522145 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 143520416 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 56
(D56G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085144]
[ENSMUST00000105770]
[ENSMUST00000149739]
|
| AlphaFold |
A2A8N2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085144
AA Change: D220G
PolyPhen 2
Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000082232
Gene: ENSMUSG00000066031
AA Change: D220G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
222 |
420 |
3e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105770
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139978
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149739
AA Change: D56G
PolyPhen 2
Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.3633 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
97% (29/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aknad1 |
C |
T |
3: 108,664,179 (GRCm39) |
Q381* |
probably null |
Het |
| Arhgef39 |
C |
T |
4: 43,497,581 (GRCm39) |
|
probably null |
Het |
| Cblif |
A |
T |
19: 11,737,737 (GRCm39) |
K383* |
probably null |
Het |
| Ccdc85a |
G |
T |
11: 28,342,857 (GRCm39) |
C113* |
probably null |
Het |
| Cdc16 |
T |
C |
8: 13,809,004 (GRCm39) |
Y19H |
probably damaging |
Het |
| Ces2e |
T |
A |
8: 105,657,347 (GRCm39) |
M289K |
probably benign |
Het |
| Cyp2u1 |
G |
A |
3: 131,096,676 (GRCm39) |
A34V |
probably benign |
Het |
| Dkk2 |
A |
C |
3: 131,791,900 (GRCm39) |
N36T |
probably damaging |
Het |
| Fam222a |
A |
G |
5: 114,750,015 (GRCm39) |
S404G |
probably damaging |
Het |
| Fbll1 |
A |
T |
11: 35,689,017 (GRCm39) |
V82E |
probably damaging |
Het |
| Flt3 |
A |
G |
5: 147,284,856 (GRCm39) |
S754P |
probably benign |
Het |
| Fmo5 |
T |
C |
3: 97,549,011 (GRCm39) |
W220R |
probably damaging |
Het |
| Gm7275 |
A |
G |
16: 47,894,098 (GRCm39) |
|
noncoding transcript |
Het |
| Gmeb2 |
G |
T |
2: 180,897,433 (GRCm39) |
|
probably benign |
Het |
| Ifi44l |
T |
C |
3: 151,468,494 (GRCm39) |
H12R |
unknown |
Het |
| Itsn2 |
T |
C |
12: 4,716,303 (GRCm39) |
Y1021H |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,882,257 (GRCm39) |
S374P |
possibly damaging |
Het |
| Map4k4 |
A |
T |
1: 40,060,242 (GRCm39) |
|
probably null |
Het |
| Mast4 |
G |
T |
13: 102,990,434 (GRCm39) |
|
probably benign |
Het |
| Mdfic |
T |
A |
6: 15,799,668 (GRCm39) |
L265H |
probably damaging |
Het |
| Pabpc2 |
A |
G |
18: 39,907,319 (GRCm39) |
I195V |
probably benign |
Het |
| Prdm1 |
T |
C |
10: 44,322,823 (GRCm39) |
Y224C |
probably damaging |
Het |
| Spidr |
T |
C |
16: 15,786,483 (GRCm39) |
Y420C |
probably damaging |
Het |
| Tlr6 |
A |
T |
5: 65,111,668 (GRCm39) |
M413K |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Vmn1r11 |
A |
C |
6: 57,114,691 (GRCm39) |
K81N |
possibly damaging |
Het |
| Vmn2r107 |
G |
A |
17: 20,580,607 (GRCm39) |
E515K |
probably benign |
Het |
| Vstm4 |
T |
C |
14: 32,614,592 (GRCm39) |
V178A |
possibly damaging |
Het |
|
| Other mutations in Pramel25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00905:Pramel25
|
APN |
4 |
143,521,844 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL01621:Pramel25
|
APN |
4 |
143,520,502 (GRCm39) |
missense |
probably benign |
|
|
IGL01777:Pramel25
|
APN |
4 |
143,521,688 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02075:Pramel25
|
APN |
4 |
143,521,602 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02098:Pramel25
|
APN |
4 |
143,520,248 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02148:Pramel25
|
APN |
4 |
143,519,304 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02355:Pramel25
|
APN |
4 |
143,519,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02362:Pramel25
|
APN |
4 |
143,519,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02828:Pramel25
|
APN |
4 |
143,521,695 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03102:Pramel25
|
APN |
4 |
143,520,116 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL03234:Pramel25
|
APN |
4 |
143,521,506 (GRCm39) |
missense |
probably benign |
0.33 |
|
BB004:Pramel25
|
UTSW |
4 |
143,519,536 (GRCm39) |
missense |
probably benign |
0.29 |
|
BB014:Pramel25
|
UTSW |
4 |
143,519,536 (GRCm39) |
missense |
probably benign |
0.29 |
|
K3955:Pramel25
|
UTSW |
4 |
143,521,710 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0054:Pramel25
|
UTSW |
4 |
143,521,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0637:Pramel25
|
UTSW |
4 |
143,520,479 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1227:Pramel25
|
UTSW |
4 |
143,520,134 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1370:Pramel25
|
UTSW |
4 |
143,521,874 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1709:Pramel25
|
UTSW |
4 |
143,520,116 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1982:Pramel25
|
UTSW |
4 |
143,521,720 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2292:Pramel25
|
UTSW |
4 |
143,520,446 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4235:Pramel25
|
UTSW |
4 |
143,521,344 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4454:Pramel25
|
UTSW |
4 |
143,519,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4504:Pramel25
|
UTSW |
4 |
143,520,553 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4937:Pramel25
|
UTSW |
4 |
143,520,407 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5041:Pramel25
|
UTSW |
4 |
143,520,260 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5379:Pramel25
|
UTSW |
4 |
143,521,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5399:Pramel25
|
UTSW |
4 |
143,521,602 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5445:Pramel25
|
UTSW |
4 |
143,521,707 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6059:Pramel25
|
UTSW |
4 |
143,520,550 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6885:Pramel25
|
UTSW |
4 |
143,520,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7846:Pramel25
|
UTSW |
4 |
143,520,563 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7927:Pramel25
|
UTSW |
4 |
143,519,536 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8285:Pramel25
|
UTSW |
4 |
143,520,636 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8840:Pramel25
|
UTSW |
4 |
143,521,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8849:Pramel25
|
UTSW |
4 |
143,521,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8921:Pramel25
|
UTSW |
4 |
143,519,322 (GRCm39) |
nonsense |
probably null |
|
|
R9128:Pramel25
|
UTSW |
4 |
143,520,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9232:Pramel25
|
UTSW |
4 |
143,520,263 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9643:Pramel25
|
UTSW |
4 |
143,521,855 (GRCm39) |
nonsense |
probably null |
|
|
R9674:Pramel25
|
UTSW |
4 |
143,520,162 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Pramel25
|
UTSW |
4 |
143,521,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGATGACTGAAGTCCTTCGC -3'
(R):5'- CCTGAGGTATTCTTTCAGGTTGCC -3'
Sequencing Primer
(F):5'- CTTCGCATGAAGGGCAGACTTG -3'
(R):5'- GGGACATCATTTACATAGAGTTTCTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation