Incidental Mutation 'R4131:Prelid2'
ID |
314689 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prelid2
|
Ensembl Gene |
ENSMUSG00000056671 |
Gene Name |
PRELI domain containing 2 |
Synonyms |
C330008K14Rik, 1700003A01Rik |
MMRRC Submission |
040994-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4131 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
42008761-42084259 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 42084224 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 6
(D6A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064661
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070949]
|
AlphaFold |
Q0VBB0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070949
AA Change: D6A
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000064661 Gene: ENSMUSG00000056671 AA Change: D6A
Domain | Start | End | E-Value | Type |
Pfam:PRELI
|
16 |
173 |
2.8e-51 |
PFAM |
|
Meta Mutation Damage Score |
0.1688 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
100% (32/32) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4gnt |
A |
G |
9: 99,502,671 (GRCm39) |
D277G |
possibly damaging |
Het |
Abca12 |
A |
G |
1: 71,359,030 (GRCm39) |
|
probably null |
Het |
Adam12 |
C |
T |
7: 133,514,653 (GRCm39) |
V345I |
probably damaging |
Het |
Arpp21 |
T |
A |
9: 111,984,376 (GRCm39) |
|
probably benign |
Het |
Art3 |
A |
T |
5: 92,540,421 (GRCm39) |
M55L |
probably benign |
Het |
C1d |
C |
T |
11: 17,214,054 (GRCm39) |
|
probably benign |
Het |
Ces1c |
A |
G |
8: 93,827,312 (GRCm39) |
M484T |
probably damaging |
Het |
Cisd3 |
T |
C |
11: 97,579,257 (GRCm39) |
V133A |
possibly damaging |
Het |
Clpx |
A |
G |
9: 65,223,937 (GRCm39) |
I230V |
possibly damaging |
Het |
Cmklr1 |
C |
A |
5: 113,752,545 (GRCm39) |
R152L |
probably damaging |
Het |
Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
Heca |
A |
G |
10: 17,777,987 (GRCm39) |
S537P |
probably damaging |
Het |
Igha |
C |
A |
12: 113,222,449 (GRCm39) |
|
probably benign |
Het |
Itgb2l |
A |
G |
16: 96,238,589 (GRCm39) |
L70P |
probably damaging |
Het |
Klk1b3 |
T |
A |
7: 43,851,111 (GRCm39) |
N181K |
probably damaging |
Het |
Klra2 |
T |
A |
6: 131,205,180 (GRCm39) |
R220S |
probably benign |
Het |
Lama2 |
C |
T |
10: 26,917,170 (GRCm39) |
V2252I |
probably benign |
Het |
Megf10 |
G |
A |
18: 57,313,607 (GRCm39) |
C17Y |
probably damaging |
Het |
Nup35 |
G |
A |
2: 80,486,443 (GRCm39) |
|
probably benign |
Het |
Or52n4b |
C |
G |
7: 108,143,744 (GRCm39) |
S2* |
probably null |
Het |
Or8b37 |
T |
A |
9: 37,959,170 (GRCm39) |
Y217* |
probably null |
Het |
Pdzd9 |
A |
T |
7: 120,262,092 (GRCm39) |
D123E |
possibly damaging |
Het |
Phactr1 |
A |
T |
13: 43,190,953 (GRCm39) |
Q141L |
probably damaging |
Het |
Psmd1 |
T |
C |
1: 86,006,422 (GRCm39) |
S263P |
probably damaging |
Het |
Rassf6 |
C |
T |
5: 90,757,646 (GRCm39) |
D105N |
probably damaging |
Het |
Ryr3 |
C |
T |
2: 112,757,328 (GRCm39) |
|
probably null |
Het |
Sema4g |
T |
A |
19: 44,987,358 (GRCm39) |
F501L |
probably benign |
Het |
Ssrp1 |
A |
G |
2: 84,874,791 (GRCm39) |
E537G |
probably null |
Het |
Try4 |
T |
A |
6: 41,282,335 (GRCm39) |
Y218* |
probably null |
Het |
Zbtb40 |
G |
T |
4: 136,722,707 (GRCm39) |
S790R |
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 |
R4422:Prelid2
|
UTSW |
18 |
42,045,461 (GRCm39) |
missense |
probably benign |
0.01 |
R4892:Prelid2
|
UTSW |
18 |
42,084,209 (GRCm39) |
missense |
possibly damaging |
0.86 |
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'- CTTTCGAGGAAAACCGCCTC -3'
(R):5'- TGGTGAGCGCTTTATAGGAC -3'
Sequencing Primer
(F):5'- TGCACATCCCGGGAGCAG -3'
(R):5'- CGTAAGTGAAAGGGGATGTGG -3'
|
Posted On |
2015-05-14 |