Incidental Mutation 'RF012:Pramel32'
| ID |
603257 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel32
|
| Ensembl Gene |
ENSMUSG00000038330 |
| Gene Name |
PRAME like 32 |
| Synonyms |
C87499 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.394)
|
| Stock # |
RF012 (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 A
at 88546006 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 445
(R445S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053304]
[ENSMUST00000107142]
[ENSMUST00000107143]
[ENSMUST00000134155]
[ENSMUST00000156062]
|
| AlphaFold |
Q3UX49 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053304
AA Change: R445S
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000056691
Gene: ENSMUSG00000038330
AA Change: R445S
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
223 |
425 |
4e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107142
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107143
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134155
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156062
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.8%
|
| Validation Efficiency |
89% (56/63) |
| Allele List at MGI |
All alleles(3) : Targeted(2) Gene trapped(1)
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
T |
A |
12: 113,453,552 (GRCm39) |
L123Q |
probably damaging |
Het |
| AI837181 |
GCG |
GCGTCG |
19: 5,475,255 (GRCm39) |
|
probably benign |
Het |
| Akr1e1 |
T |
A |
13: 4,645,125 (GRCm39) |
N242I |
probably damaging |
Het |
| Ankrd7 |
G |
C |
6: 18,869,274 (GRCm39) |
E194Q |
possibly damaging |
Het |
| Ano3 |
A |
G |
2: 110,527,868 (GRCm39) |
F517L |
possibly damaging |
Het |
| Arhgef4 |
CAAA |
C |
1: 34,763,565 (GRCm39) |
|
probably benign |
Het |
| Arid1a |
AGACGACGA |
AGACGA |
4: 133,480,131 (GRCm39) |
|
probably benign |
Het |
| Atp2c2 |
G |
T |
8: 120,472,253 (GRCm39) |
A436S |
possibly damaging |
Het |
| BC004004 |
T |
A |
17: 29,501,782 (GRCm39) |
V107E |
probably benign |
Het |
| Begain |
CGCCGC |
CGCCGCAGCCGC |
12: 108,999,353 (GRCm39) |
|
probably benign |
Het |
| Cad |
GT |
G |
5: 31,217,556 (GRCm39) |
|
probably benign |
Het |
| Chi3l1 |
A |
T |
1: 134,112,909 (GRCm39) |
T122S |
probably benign |
Het |
| Clic6 |
A |
G |
16: 92,327,697 (GRCm39) |
S501G |
possibly damaging |
Het |
| Col6a3 |
A |
C |
1: 90,738,282 (GRCm39) |
L1079R |
probably damaging |
Het |
| Coro2a |
T |
C |
4: 46,542,336 (GRCm39) |
K346E |
probably damaging |
Het |
| Ctsf |
A |
G |
19: 4,908,694 (GRCm39) |
N325D |
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,262,375 (GRCm39) |
E2881G |
probably benign |
Het |
| Dnah14 |
A |
G |
1: 181,455,463 (GRCm39) |
T863A |
probably damaging |
Het |
| Dnai2 |
A |
T |
11: 114,641,242 (GRCm39) |
I356F |
probably damaging |
Het |
| Dusp4 |
ACGGCGGCGGCGGC |
ACGGCGGCGGC |
8: 35,274,953 (GRCm39) |
|
probably benign |
Het |
| Efhb |
T |
C |
17: 53,720,545 (GRCm39) |
N647D |
probably damaging |
Het |
| Efhd2 |
CCG |
CCGACGGCG |
4: 141,602,079 (GRCm39) |
|
probably benign |
Het |
| Eif3i |
A |
G |
4: 129,485,872 (GRCm39) |
Y318H |
probably damaging |
Het |
| Fbxl5 |
T |
C |
5: 43,930,847 (GRCm39) |
H80R |
probably damaging |
Het |
| Gab3 |
TCT |
TCTGCT |
X: 74,043,626 (GRCm39) |
|
probably benign |
Het |
| Gne |
G |
T |
4: 44,060,045 (GRCm39) |
A147D |
probably damaging |
Het |
| Gpi1 |
A |
T |
7: 33,901,902 (GRCm39) |
H538Q |
probably damaging |
Het |
| Itih2 |
T |
C |
2: 10,122,214 (GRCm39) |
H229R |
possibly damaging |
Het |
| Kdm7a |
A |
G |
6: 39,183,447 (GRCm39) |
V41A |
probably damaging |
Het |
| Krtap28-10 |
GCCACA |
GCCACACCCACA |
1: 83,019,857 (GRCm39) |
|
probably benign |
Het |
| Lipa |
A |
T |
19: 34,486,498 (GRCm39) |
S141R |
probably damaging |
Het |
| Medag |
G |
T |
5: 149,335,459 (GRCm39) |
C6F |
probably benign |
Het |
| Nefh |
GGCCTCT |
GGCCTCTCCTGGGGACTTTGCCTCT |
11: 4,891,055 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,030 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GACTTGGCCTCACCTGGG |
GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG |
11: 4,891,032 (GRCm39) |
|
probably benign |
Het |
| Opa1 |
A |
G |
16: 29,432,784 (GRCm39) |
I482M |
probably damaging |
Het |
| Or12e14 |
A |
T |
2: 87,677,103 (GRCm39) |
I163L |
probably benign |
Het |
| Pgf |
T |
C |
12: 85,216,316 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
TTTT |
TTTTTTTTTTTATTT |
15: 44,421,901 (GRCm39) |
|
probably benign |
Het |
| Pou2f1 |
G |
A |
1: 165,740,800 (GRCm39) |
T134I |
unknown |
Het |
| Prss52 |
A |
G |
14: 64,350,922 (GRCm39) |
S236G |
probably damaging |
Het |
| Rpsa |
A |
G |
9: 119,960,105 (GRCm39) |
T223A |
probably benign |
Het |
| Shprh |
A |
G |
10: 11,040,585 (GRCm39) |
N686S |
probably benign |
Het |
| Six3 |
CGG |
CGGTGG |
17: 85,928,796 (GRCm39) |
|
probably benign |
Het |
| Six4 |
TG |
T |
12: 73,150,356 (GRCm39) |
|
probably null |
Het |
| Slc22a27 |
C |
T |
19: 7,903,949 (GRCm39) |
G63S |
probably benign |
Het |
| Tmcc2 |
G |
T |
1: 132,288,756 (GRCm39) |
N310K |
probably damaging |
Het |
| Tmem144 |
A |
T |
3: 79,729,961 (GRCm39) |
L263Q |
probably damaging |
Het |
| Tpra1 |
T |
C |
6: 88,886,324 (GRCm39) |
V101A |
probably damaging |
Het |
| Troap |
T |
C |
15: 98,973,281 (GRCm39) |
S16P |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,543,915 (GRCm39) |
T33024A |
probably benign |
Het |
| Usp2 |
A |
ACATGTGACCTGTTCTTCACTTACT |
9: 44,000,427 (GRCm39) |
|
probably benign |
Het |
| Was |
CTCCTCCT |
C |
X: 7,952,470 (GRCm39) |
|
probably null |
Het |
| Zfp672 |
A |
G |
11: 58,206,938 (GRCm39) |
V461A |
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 |
|
R8044:Pramel32
|
UTSW |
4 |
88,548,212 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCTAGGTCCCATTGATGAG -3'
(R):5'- TGCCTGCCTTAAGCCAATG -3'
Sequencing Primer
(F):5'- TCCAGAATGTCTCAGACCTTGGG -3'
(R):5'- GCTCCCACCTCACAAAGATCAATTTC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation