Incidental Mutation 'R8367:Pramel6'
| ID |
646201 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pramel6
|
| Ensembl Gene |
ENSMUSG00000025838 |
| Gene Name |
PRAME like 6 |
| Synonyms |
|
| MMRRC Submission |
067874-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R8367 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
87336909-87341209 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 87340814 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 382
(Q382P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026956
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026956]
[ENSMUST00000111572]
|
| AlphaFold |
Q810Y9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026956
AA Change: Q382P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026956
Gene: ENSMUSG00000025838
AA Change: Q382P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
31 |
N/A |
INTRINSIC |
|
SCOP:d1a4ya_
|
223 |
411 |
5e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111572
AA Change: Q382P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107198
Gene: ENSMUSG00000025838
AA Change: Q382P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
31 |
N/A |
INTRINSIC |
|
SCOP:d1a4ya_
|
223 |
411 |
5e-8 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
G |
A |
2: 152,284,417 (GRCm39) |
|
probably null |
Het |
| 8030423J24Rik |
A |
T |
13: 71,032,096 (GRCm39) |
E56V |
unknown |
Het |
| Abcb1a |
A |
G |
5: 8,736,221 (GRCm39) |
T205A |
probably benign |
Het |
| Aplp2 |
T |
C |
9: 31,089,202 (GRCm39) |
E93G |
probably damaging |
Het |
| Arpin |
T |
A |
7: 79,579,386 (GRCm39) |
N79I |
possibly damaging |
Het |
| Atg7 |
T |
A |
6: 114,663,060 (GRCm39) |
D225E |
probably benign |
Het |
| Bltp3b |
T |
A |
10: 89,641,239 (GRCm39) |
D803E |
probably damaging |
Het |
| Cc2d2b |
A |
G |
19: 40,754,419 (GRCm39) |
M229V |
unknown |
Het |
| Cep295 |
C |
T |
9: 15,245,826 (GRCm39) |
V877I |
probably benign |
Het |
| Clca3a2 |
A |
T |
3: 144,523,508 (GRCm39) |
|
probably null |
Het |
| Cmip |
C |
T |
8: 118,163,610 (GRCm39) |
P359L |
probably benign |
Het |
| Cyb5rl |
A |
G |
4: 106,928,146 (GRCm39) |
Y94C |
probably benign |
Het |
| Cyp19a1 |
A |
G |
9: 54,087,543 (GRCm39) |
I125T |
probably damaging |
Het |
| Cyp2c54 |
T |
G |
19: 40,062,125 (GRCm39) |
Q44P |
probably damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,627,118 (GRCm39) |
H237Q |
probably benign |
Het |
| Dlgap2 |
A |
T |
8: 14,893,544 (GRCm39) |
Y953F |
probably benign |
Het |
| Hgfac |
G |
T |
5: 35,202,790 (GRCm39) |
C430F |
probably damaging |
Het |
| Kdm4b |
T |
C |
17: 56,662,875 (GRCm39) |
W149R |
probably damaging |
Het |
| Krt23 |
C |
T |
11: 99,383,715 (GRCm39) |
W59* |
probably null |
Het |
| Lfng |
G |
A |
5: 140,598,981 (GRCm39) |
E297K |
probably damaging |
Het |
| Lrrc7 |
T |
A |
3: 157,908,007 (GRCm39) |
Q271L |
possibly damaging |
Het |
| Ltc4s |
C |
A |
11: 50,127,511 (GRCm39) |
R108L |
possibly damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,313,693 (GRCm39) |
S596P |
possibly damaging |
Het |
| Myot |
A |
G |
18: 44,470,166 (GRCm39) |
T48A |
probably benign |
Het |
| Mypn |
G |
C |
10: 62,971,539 (GRCm39) |
P834A |
probably damaging |
Het |
| Or5d16 |
T |
C |
2: 87,773,441 (GRCm39) |
N177S |
possibly damaging |
Het |
| Or8k30 |
C |
T |
2: 86,339,025 (GRCm39) |
S74L |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,678,124 (GRCm39) |
K615E |
probably benign |
Het |
| Prdx2 |
A |
G |
8: 85,698,244 (GRCm39) |
D145G |
probably damaging |
Het |
| Prune1 |
A |
G |
3: 95,172,837 (GRCm39) |
V76A |
probably benign |
Het |
| Sppl2b |
A |
T |
10: 80,699,025 (GRCm39) |
H198L |
probably benign |
Het |
| Ttll9 |
C |
A |
2: 152,836,068 (GRCm39) |
H271N |
probably benign |
Het |
| Vmn2r59 |
C |
A |
7: 41,661,247 (GRCm39) |
R856M |
probably benign |
Het |
| Yeats2 |
C |
T |
16: 20,041,575 (GRCm39) |
T1155I |
probably damaging |
Het |
| Zbbx |
A |
G |
3: 74,989,034 (GRCm39) |
|
probably null |
Het |
| Zfp160 |
A |
G |
17: 21,245,804 (GRCm39) |
D118G |
probably benign |
Het |
| Zfp366 |
A |
G |
13: 99,380,551 (GRCm39) |
M549V |
possibly damaging |
Het |
| Zp3r |
A |
G |
1: 130,526,610 (GRCm39) |
S198P |
probably damaging |
Het |
|
| Other mutations in Pramel6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01555:Pramel6
|
APN |
2 |
87,341,129 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02867:Pramel6
|
APN |
2 |
87,340,736 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03212:Pramel6
|
APN |
2 |
87,340,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1453:Pramel6
|
UTSW |
2 |
87,338,917 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1905:Pramel6
|
UTSW |
2 |
87,339,527 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1905:Pramel6
|
UTSW |
2 |
87,339,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1940:Pramel6
|
UTSW |
2 |
87,339,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2057:Pramel6
|
UTSW |
2 |
87,339,059 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2073:Pramel6
|
UTSW |
2 |
87,339,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3423:Pramel6
|
UTSW |
2 |
87,341,140 (GRCm39) |
splice site |
probably null |
|
|
R3500:Pramel6
|
UTSW |
2 |
87,339,569 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4097:Pramel6
|
UTSW |
2 |
87,339,697 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4396:Pramel6
|
UTSW |
2 |
87,338,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4538:Pramel6
|
UTSW |
2 |
87,338,903 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4719:Pramel6
|
UTSW |
2 |
87,341,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4779:Pramel6
|
UTSW |
2 |
87,339,941 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6054:Pramel6
|
UTSW |
2 |
87,339,003 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6457:Pramel6
|
UTSW |
2 |
87,339,782 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6477:Pramel6
|
UTSW |
2 |
87,340,946 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6492:Pramel6
|
UTSW |
2 |
87,340,766 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6684:Pramel6
|
UTSW |
2 |
87,339,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6983:Pramel6
|
UTSW |
2 |
87,339,923 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7351:Pramel6
|
UTSW |
2 |
87,340,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7357:Pramel6
|
UTSW |
2 |
87,340,856 (GRCm39) |
missense |
not run |
|
|
R7748:Pramel6
|
UTSW |
2 |
87,339,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7991:Pramel6
|
UTSW |
2 |
87,340,031 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8116:Pramel6
|
UTSW |
2 |
87,338,808 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8487:Pramel6
|
UTSW |
2 |
87,339,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9521:Pramel6
|
UTSW |
2 |
87,340,629 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Pramel6
|
UTSW |
2 |
87,339,066 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCGAGTGCCTGCCAAATTG -3'
(R):5'- TTTTGGCCTTAAGTATGTTCAGCAG -3'
Sequencing Primer
(F):5'- GCCTGCCAAATTGTCCGAATATTTG -3'
(R):5'- CAGCAGTTCTGGACAAAGTTTC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation