Incidental Mutation 'R4892:Prelid2'
ID |
377365 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prelid2
|
Ensembl Gene |
ENSMUSG00000056671 |
Gene Name |
PRELI domain containing 2 |
Synonyms |
C330008K14Rik, 1700003A01Rik |
MMRRC Submission |
042497-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4892 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
42008761-42084259 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 42084209 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 11
(F11S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064661
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070949]
|
AlphaFold |
Q0VBB0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070949
AA Change: F11S
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000064661 Gene: ENSMUSG00000056671 AA Change: F11S
Domain | Start | End | E-Value | Type |
Pfam:PRELI
|
16 |
173 |
2.8e-51 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
T |
C |
8: 87,236,431 (GRCm39) |
T1128A |
probably benign |
Het |
Apol11a |
A |
T |
15: 77,401,190 (GRCm39) |
K226* |
probably null |
Het |
Atp4a |
A |
G |
7: 30,411,899 (GRCm39) |
M45V |
probably benign |
Het |
Babam1 |
T |
A |
8: 71,855,696 (GRCm39) |
M263K |
probably benign |
Het |
Capn11 |
GACA |
GA |
17: 45,944,023 (GRCm39) |
|
probably null |
Het |
Ccdc190 |
C |
A |
1: 169,757,678 (GRCm39) |
L46I |
possibly damaging |
Het |
Cep131 |
C |
T |
11: 119,958,883 (GRCm39) |
R717H |
probably damaging |
Het |
Cpt1c |
A |
G |
7: 44,609,012 (GRCm39) |
F770L |
probably benign |
Het |
Dhx30 |
A |
T |
9: 109,914,924 (GRCm39) |
|
probably null |
Het |
Dido1 |
G |
A |
2: 180,316,822 (GRCm39) |
Q662* |
probably null |
Het |
Dip2a |
T |
C |
10: 76,116,593 (GRCm39) |
E910G |
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Fmo3 |
T |
A |
1: 162,796,300 (GRCm39) |
I91F |
probably benign |
Het |
Gdap1 |
A |
C |
1: 17,230,218 (GRCm39) |
D217A |
possibly damaging |
Het |
Grm1 |
T |
C |
10: 10,595,331 (GRCm39) |
S766G |
possibly damaging |
Het |
Kat8 |
T |
A |
7: 127,514,710 (GRCm39) |
I123N |
possibly damaging |
Het |
Kcnt2 |
C |
A |
1: 140,440,763 (GRCm39) |
S23* |
probably null |
Het |
Krt73 |
G |
A |
15: 101,704,244 (GRCm39) |
T432I |
probably damaging |
Het |
Lgals9 |
T |
A |
11: 78,856,909 (GRCm39) |
I223L |
probably benign |
Het |
Mpo |
T |
A |
11: 87,693,507 (GRCm39) |
N48K |
probably benign |
Het |
Myo9a |
T |
G |
9: 59,731,525 (GRCm39) |
H632Q |
probably damaging |
Het |
Or2y1c |
C |
A |
11: 49,361,043 (GRCm39) |
Q22K |
probably benign |
Het |
Or9s27 |
A |
G |
1: 92,516,643 (GRCm39) |
N197S |
probably benign |
Het |
Setd1a |
G |
T |
7: 127,377,696 (GRCm39) |
V57L |
probably damaging |
Het |
Sgip1 |
A |
G |
4: 102,823,431 (GRCm39) |
D704G |
probably damaging |
Het |
Spryd3 |
T |
C |
15: 102,026,537 (GRCm39) |
E378G |
probably benign |
Het |
Stk17b |
A |
T |
1: 53,810,770 (GRCm39) |
Y112N |
probably damaging |
Het |
Syndig1 |
A |
T |
2: 149,741,811 (GRCm39) |
K132N |
probably damaging |
Het |
Tcf20 |
C |
T |
15: 82,738,400 (GRCm39) |
R1017Q |
possibly damaging |
Het |
Tenm3 |
T |
A |
8: 48,729,896 (GRCm39) |
D1370V |
probably damaging |
Het |
Tnrc6a |
C |
T |
7: 122,769,134 (GRCm39) |
T308I |
probably damaging |
Het |
Ttc29 |
T |
C |
8: 79,060,274 (GRCm39) |
V398A |
probably damaging |
Het |
Ubr4 |
A |
G |
4: 139,155,828 (GRCm39) |
T2218A |
probably benign |
Het |
|
Other mutations in Prelid2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00709:Prelid2
|
APN |
18 |
42,045,488 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01731:Prelid2
|
APN |
18 |
42,070,714 (GRCm39) |
missense |
probably benign |
0.03 |
G1patch:Prelid2
|
UTSW |
18 |
42,045,514 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0217:Prelid2
|
UTSW |
18 |
42,068,317 (GRCm39) |
splice site |
probably benign |
|
R0556:Prelid2
|
UTSW |
18 |
42,084,245 (GRCm39) |
start gained |
probably benign |
|
R0627:Prelid2
|
UTSW |
18 |
42,070,717 (GRCm39) |
missense |
possibly damaging |
0.50 |
R0848:Prelid2
|
UTSW |
18 |
42,068,289 (GRCm39) |
missense |
probably damaging |
0.98 |
R1522:Prelid2
|
UTSW |
18 |
42,014,332 (GRCm39) |
missense |
probably benign |
|
R3919:Prelid2
|
UTSW |
18 |
42,070,740 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4131:Prelid2
|
UTSW |
18 |
42,084,224 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4422:Prelid2
|
UTSW |
18 |
42,045,461 (GRCm39) |
missense |
probably benign |
0.01 |
R6062:Prelid2
|
UTSW |
18 |
42,045,530 (GRCm39) |
missense |
probably benign |
0.00 |
R6725:Prelid2
|
UTSW |
18 |
42,045,514 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7276:Prelid2
|
UTSW |
18 |
42,045,487 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7739:Prelid2
|
UTSW |
18 |
42,045,433 (GRCm39) |
critical splice donor site |
probably null |
|
R7941:Prelid2
|
UTSW |
18 |
42,065,816 (GRCm39) |
nonsense |
probably null |
|
R8093:Prelid2
|
UTSW |
18 |
42,065,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R8202:Prelid2
|
UTSW |
18 |
42,065,802 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8393:Prelid2
|
UTSW |
18 |
42,014,313 (GRCm39) |
missense |
probably benign |
0.08 |
R9010:Prelid2
|
UTSW |
18 |
42,065,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAGCTTTCGAGGAAAACC -3'
(R):5'- TGTGGGTGTGACCTATAGCC -3'
Sequencing Primer
(F):5'- GCTTTCGAGGAAAACCGCCTC -3'
(R):5'- ACCTATAGCCTTGTCTCGGAGGAG -3'
|
Posted On |
2016-03-17 |