Incidental Mutation 'R8044:Pramel32'
| ID |
618662 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel32
|
| Ensembl Gene |
ENSMUSG00000038330 |
| Gene Name |
PRAME like 32 |
| Synonyms |
C87499 |
| MMRRC Submission |
067481-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.394)
|
| Stock # |
R8044 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
88545557-88552423 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 88548212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 64
(E64D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053304]
[ENSMUST00000107142]
[ENSMUST00000107143]
[ENSMUST00000134155]
[ENSMUST00000156062]
|
| AlphaFold |
Q3UX49 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053304
AA Change: E64D
PolyPhen 2
Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000056691
Gene: ENSMUSG00000038330
AA Change: E64D
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
223 |
425 |
4e-9 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107142
AA Change: E64D
PolyPhen 2
Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107143
AA Change: E64D
PolyPhen 2
Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134155
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156062
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
All alleles(3) : Targeted(2) Gene trapped(1)
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524J17Rik |
T |
C |
8: 86,138,747 (GRCm39) |
E114G |
possibly damaging |
Het |
| Abcc4 |
ACCAGCCC |
ACC |
14: 118,852,682 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Asb7 |
T |
C |
7: 66,309,511 (GRCm39) |
N235S |
probably benign |
Het |
| Atrn |
A |
T |
2: 130,777,449 (GRCm39) |
N166I |
probably damaging |
Het |
| Cd300ld2 |
C |
T |
11: 114,904,545 (GRCm39) |
W107* |
probably null |
Het |
| Chl1 |
A |
T |
6: 103,683,593 (GRCm39) |
E806D |
probably damaging |
Het |
| Dnajb12 |
A |
G |
10: 59,732,172 (GRCm39) |
K337R |
possibly damaging |
Het |
| Dock5 |
T |
C |
14: 68,062,141 (GRCm39) |
D409G |
probably damaging |
Het |
| Efhb |
G |
A |
17: 53,706,143 (GRCm39) |
S798L |
probably benign |
Het |
| Gpd1 |
T |
C |
15: 99,621,083 (GRCm39) |
F322S |
probably damaging |
Het |
| Gria4 |
A |
G |
9: 4,456,216 (GRCm39) |
Y695H |
probably damaging |
Het |
| Ipo8 |
A |
G |
6: 148,711,421 (GRCm39) |
F289S |
probably damaging |
Het |
| Jakmip1 |
A |
G |
5: 37,311,988 (GRCm39) |
E72G |
unknown |
Het |
| Mettl14 |
T |
C |
3: 123,163,309 (GRCm39) |
N366S |
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 59,274,313 (GRCm39) |
T730A |
probably damaging |
Het |
| Or5b101 |
T |
C |
19: 13,004,829 (GRCm39) |
Y288C |
probably damaging |
Het |
| Otop3 |
T |
C |
11: 115,237,261 (GRCm39) |
L575P |
probably damaging |
Het |
| Piwil2 |
T |
C |
14: 70,628,887 (GRCm39) |
S710G |
possibly damaging |
Het |
| Ptpra |
A |
G |
2: 130,386,881 (GRCm39) |
K627E |
possibly damaging |
Het |
| Rab24 |
A |
G |
13: 55,469,345 (GRCm39) |
|
probably benign |
Het |
| Rbm20 |
C |
A |
19: 53,806,402 (GRCm39) |
A494D |
probably benign |
Het |
| Rpe65 |
T |
C |
3: 159,320,342 (GRCm39) |
F300L |
probably benign |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| Tert |
A |
G |
13: 73,783,568 (GRCm39) |
E590G |
probably damaging |
Het |
| Tlr4 |
C |
A |
4: 66,746,084 (GRCm39) |
L6I |
probably benign |
Het |
| Trim3 |
G |
A |
7: 105,262,465 (GRCm39) |
|
silent |
Het |
| Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
| Ube3a |
A |
T |
7: 58,926,320 (GRCm39) |
H387L |
possibly damaging |
Het |
| Ugt1a7c |
G |
A |
1: 88,023,278 (GRCm39) |
V146M |
probably damaging |
Het |
| Upf2 |
T |
C |
2: 6,034,249 (GRCm39) |
I974T |
unknown |
Het |
| Vmn1r38 |
A |
T |
6: 66,753,516 (GRCm39) |
I200N |
probably benign |
Het |
| Wnt5b |
A |
G |
6: 119,423,319 (GRCm39) |
V115A |
probably damaging |
Het |
| Xpo7 |
C |
A |
14: 70,922,366 (GRCm39) |
R574L |
probably benign |
Het |
|
| Other mutations in Pramel32 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Pramel32
|
APN |
4 |
88,547,307 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL00229:Pramel32
|
APN |
4 |
88,547,290 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01938:Pramel32
|
APN |
4 |
88,547,600 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02321:Pramel32
|
APN |
4 |
88,548,340 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02351:Pramel32
|
APN |
4 |
88,546,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02358:Pramel32
|
APN |
4 |
88,546,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0005:Pramel32
|
UTSW |
4 |
88,546,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0521:Pramel32
|
UTSW |
4 |
88,547,559 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0578:Pramel32
|
UTSW |
4 |
88,552,376 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0600:Pramel32
|
UTSW |
4 |
88,547,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0750:Pramel32
|
UTSW |
4 |
88,545,905 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1483:Pramel32
|
UTSW |
4 |
88,547,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1502:Pramel32
|
UTSW |
4 |
88,546,269 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1911:Pramel32
|
UTSW |
4 |
88,548,309 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2204:Pramel32
|
UTSW |
4 |
88,546,355 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2507:Pramel32
|
UTSW |
4 |
88,547,448 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2512:Pramel32
|
UTSW |
4 |
88,547,195 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4299:Pramel32
|
UTSW |
4 |
88,546,419 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4498:Pramel32
|
UTSW |
4 |
88,547,129 (GRCm39) |
splice site |
probably null |
|
|
R4656:Pramel32
|
UTSW |
4 |
88,548,202 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4787:Pramel32
|
UTSW |
4 |
88,547,450 (GRCm39) |
nonsense |
probably null |
|
|
R4823:Pramel32
|
UTSW |
4 |
88,547,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4885:Pramel32
|
UTSW |
4 |
88,546,219 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4948:Pramel32
|
UTSW |
4 |
88,547,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4967:Pramel32
|
UTSW |
4 |
88,547,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5229:Pramel32
|
UTSW |
4 |
88,548,372 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5426:Pramel32
|
UTSW |
4 |
88,547,647 (GRCm39) |
intron |
probably benign |
|
|
R5520:Pramel32
|
UTSW |
4 |
88,548,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5574:Pramel32
|
UTSW |
4 |
88,546,280 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5596:Pramel32
|
UTSW |
4 |
88,548,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6282:Pramel32
|
UTSW |
4 |
88,548,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6366:Pramel32
|
UTSW |
4 |
88,547,102 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6808:Pramel32
|
UTSW |
4 |
88,548,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6866:Pramel32
|
UTSW |
4 |
88,545,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7105:Pramel32
|
UTSW |
4 |
88,548,339 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7117:Pramel32
|
UTSW |
4 |
88,547,195 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7319:Pramel32
|
UTSW |
4 |
88,548,184 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7345:Pramel32
|
UTSW |
4 |
88,546,416 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7399:Pramel32
|
UTSW |
4 |
88,546,202 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7626:Pramel32
|
UTSW |
4 |
88,548,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7751:Pramel32
|
UTSW |
4 |
88,547,356 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8849:Pramel32
|
UTSW |
4 |
88,546,014 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9334:Pramel32
|
UTSW |
4 |
88,548,186 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9515:Pramel32
|
UTSW |
4 |
88,546,219 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
RF012:Pramel32
|
UTSW |
4 |
88,546,006 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAGCACCTAGAGAACCTTTC -3'
(R):5'- GCAGAAGGGCTTCCTATGTTTC -3'
Sequencing Primer
(F):5'- AGAACCTTTCTCCACCCTACCTG -3'
(R):5'- CAGAAGGGCTTCCTATGTTTCTTGTC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation