Incidental Mutation 'R2475:Pramel24'
| ID |
253330 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel24
|
| Ensembl Gene |
ENSMUSG00000046435 |
| Gene Name |
PRAME like 24 |
| Synonyms |
Gm13078 |
| MMRRC Submission |
040406-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
R2475 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
143446025-143455728 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 143453395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 168
(Y168N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078695]
|
| AlphaFold |
A2AGW8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078695
AA Change: Y168N
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000077761
Gene: ENSMUSG00000046435
AA Change: Y168N
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
204 |
412 |
4e-12 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a1 |
T |
A |
19: 20,617,442 (GRCm39) |
M458K |
probably benign |
Het |
| Atic |
C |
T |
1: 71,598,428 (GRCm39) |
R64C |
probably damaging |
Het |
| Atp7b |
C |
T |
8: 22,484,792 (GRCm39) |
V1307M |
possibly damaging |
Het |
| Bbx |
C |
A |
16: 50,040,882 (GRCm39) |
R707L |
probably damaging |
Het |
| Ccdc28b |
A |
T |
4: 129,514,445 (GRCm39) |
|
probably null |
Het |
| Gm21136 |
T |
A |
7: 38,567,258 (GRCm39) |
T57S |
probably damaging |
Het |
| Gm5862 |
G |
A |
5: 26,224,490 (GRCm39) |
L160F |
probably damaging |
Het |
| Gpsm3 |
A |
G |
17: 34,809,534 (GRCm39) |
T47A |
possibly damaging |
Het |
| Grip1 |
T |
C |
10: 119,814,401 (GRCm39) |
Y311H |
probably benign |
Het |
| Inpp4b |
T |
A |
8: 82,768,607 (GRCm39) |
N705K |
probably benign |
Het |
| Lingo1 |
T |
A |
9: 56,526,910 (GRCm39) |
I560F |
probably benign |
Het |
| Man2b2 |
A |
G |
5: 36,965,219 (GRCm39) |
V958A |
probably benign |
Het |
| Mavs |
G |
T |
2: 131,082,370 (GRCm39) |
A85S |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,364,490 (GRCm39) |
C1305S |
probably benign |
Het |
| Or14j9 |
A |
G |
17: 37,874,602 (GRCm39) |
V200A |
probably benign |
Het |
| Phf19 |
C |
T |
2: 34,785,807 (GRCm39) |
R554Q |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Trpm8 |
A |
G |
1: 88,282,171 (GRCm39) |
D689G |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,703,094 (GRCm39) |
|
probably benign |
Het |
| Wrnip1 |
G |
A |
13: 32,990,941 (GRCm39) |
R400H |
probably benign |
Het |
|
| Other mutations in Pramel24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00976:Pramel24
|
APN |
4 |
143,453,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01122:Pramel24
|
APN |
4 |
143,454,971 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02314:Pramel24
|
APN |
4 |
143,455,012 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03089:Pramel24
|
APN |
4 |
143,452,703 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL03338:Pramel24
|
APN |
4 |
143,453,312 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0233:Pramel24
|
UTSW |
4 |
143,452,633 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0233:Pramel24
|
UTSW |
4 |
143,452,633 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0349:Pramel24
|
UTSW |
4 |
143,453,629 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0681:Pramel24
|
UTSW |
4 |
143,454,622 (GRCm39) |
missense |
probably benign |
|
|
R0963:Pramel24
|
UTSW |
4 |
143,453,678 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1114:Pramel24
|
UTSW |
4 |
143,453,425 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2070:Pramel24
|
UTSW |
4 |
143,453,472 (GRCm39) |
nonsense |
probably null |
|
|
R3824:Pramel24
|
UTSW |
4 |
143,453,255 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4050:Pramel24
|
UTSW |
4 |
143,453,692 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4125:Pramel24
|
UTSW |
4 |
143,452,850 (GRCm39) |
nonsense |
probably null |
|
|
R4273:Pramel24
|
UTSW |
4 |
143,453,416 (GRCm39) |
nonsense |
probably null |
|
|
R4280:Pramel24
|
UTSW |
4 |
143,452,592 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4921:Pramel24
|
UTSW |
4 |
143,454,896 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5223:Pramel24
|
UTSW |
4 |
143,454,591 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7256:Pramel24
|
UTSW |
4 |
143,452,849 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7640:Pramel24
|
UTSW |
4 |
143,453,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7666:Pramel24
|
UTSW |
4 |
143,455,085 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7683:Pramel24
|
UTSW |
4 |
143,453,284 (GRCm39) |
nonsense |
probably null |
|
|
R7981:Pramel24
|
UTSW |
4 |
143,453,452 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8856:Pramel24
|
UTSW |
4 |
143,453,303 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9050:Pramel24
|
UTSW |
4 |
143,453,329 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9739:Pramel24
|
UTSW |
4 |
143,454,997 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9757:Pramel24
|
UTSW |
4 |
143,454,992 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Pramel24
|
UTSW |
4 |
143,453,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAAGGACTTCTGGGATGGTTG -3'
(R):5'- AGGCCTATCCCAAGATATGCAG -3'
Sequencing Primer
(F):5'- TGGGCTGGATTACTTCATGAAG -3'
(R):5'- GGCCTATCCCAAGATATGCAGATTTC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation