Incidental Mutation 'IGL02560:Lipo2'
| ID |
298191 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lipo2
|
| Ensembl Gene |
ENSMUSG00000087303 |
| Gene Name |
lipase, member O2 |
| Synonyms |
Gm8981 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
IGL02560
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
33697070-33728759 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33708348 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 222
(L222P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118907
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025694]
[ENSMUST00000147153]
|
| AlphaFold |
D3YY49 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025694
|
| SMART Domains |
Protein: ENSMUSP00000025694
Gene: ENSMUSG00000024766
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abhydro_lipase
|
33 |
95 |
4.2e-24 |
PFAM |
|
Pfam:Abhydrolase_1
|
76 |
213 |
7.3e-16 |
PFAM |
|
Pfam:Abhydrolase_5
|
76 |
370 |
4.8e-12 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000147153
AA Change: L222P
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000118907
Gene: ENSMUSG00000087303
AA Change: L222P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abhydro_lipase
|
33 |
95 |
4.4e-24 |
PFAM |
|
Pfam:Abhydrolase_1
|
76 |
213 |
1.7e-15 |
PFAM |
|
Pfam:Abhydrolase_5
|
76 |
370 |
1.5e-11 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
C |
T |
10: 88,814,603 (GRCm39) |
W660* |
probably null |
Het |
| Atp9b |
T |
C |
18: 80,805,413 (GRCm39) |
D715G |
probably benign |
Het |
| Catsper1 |
T |
C |
19: 5,386,216 (GRCm39) |
S150P |
possibly damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cldn19 |
G |
A |
4: 119,112,921 (GRCm39) |
W51* |
probably null |
Het |
| Ddx31 |
T |
C |
2: 28,765,838 (GRCm39) |
I512T |
probably damaging |
Het |
| Dsc2 |
G |
T |
18: 20,178,596 (GRCm39) |
D269E |
probably damaging |
Het |
| Dsg1b |
T |
C |
18: 20,542,235 (GRCm39) |
V914A |
possibly damaging |
Het |
| Etl4 |
A |
G |
2: 20,748,529 (GRCm39) |
E420G |
probably damaging |
Het |
| Foxa2 |
A |
G |
2: 147,885,951 (GRCm39) |
L113P |
probably benign |
Het |
| Gm6034 |
T |
G |
17: 36,367,356 (GRCm39) |
|
probably benign |
Het |
| Gtf3c4 |
A |
T |
2: 28,724,279 (GRCm39) |
Y343* |
probably null |
Het |
| Hhip |
A |
T |
8: 80,713,638 (GRCm39) |
Y563N |
probably damaging |
Het |
| Ighg2c |
A |
T |
12: 113,251,504 (GRCm39) |
C208S |
unknown |
Het |
| Myb |
A |
T |
10: 21,028,347 (GRCm39) |
L172Q |
probably damaging |
Het |
| Nipal3 |
A |
T |
4: 135,207,015 (GRCm39) |
Y60N |
probably damaging |
Het |
| Npas2 |
A |
T |
1: 39,373,042 (GRCm39) |
|
probably benign |
Het |
| Or5h26 |
G |
T |
16: 58,987,891 (GRCm39) |
S205* |
probably null |
Het |
| Or8k16 |
T |
A |
2: 85,519,863 (GRCm39) |
V30D |
possibly damaging |
Het |
| Or8k39 |
A |
T |
2: 86,563,578 (GRCm39) |
I126N |
probably damaging |
Het |
| Pdxdc1 |
T |
C |
16: 13,657,596 (GRCm39) |
D532G |
probably benign |
Het |
| Pwp2 |
T |
C |
10: 78,014,899 (GRCm39) |
S362G |
probably damaging |
Het |
| Senp5 |
A |
G |
16: 31,808,210 (GRCm39) |
V348A |
probably benign |
Het |
| Slc25a37 |
T |
C |
14: 69,482,741 (GRCm39) |
T187A |
probably benign |
Het |
| Svil |
A |
G |
18: 5,049,379 (GRCm39) |
I219V |
probably benign |
Het |
| Tcf4 |
A |
G |
18: 69,776,093 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,071,779 (GRCm39) |
V2442A |
probably benign |
Het |
| Tomm70a |
T |
C |
16: 56,970,212 (GRCm39) |
L530S |
probably benign |
Het |
| Ulbp3 |
A |
G |
10: 3,075,866 (GRCm39) |
|
noncoding transcript |
Het |
| Wscd2 |
A |
T |
5: 113,699,045 (GRCm39) |
D200V |
probably benign |
Het |
| Zfp952 |
C |
T |
17: 33,221,793 (GRCm39) |
Q53* |
probably null |
Het |
|
| Other mutations in Lipo2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01564:Lipo2
|
APN |
19 |
33,698,424 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01780:Lipo2
|
APN |
19 |
33,708,348 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01868:Lipo2
|
APN |
19 |
33,708,238 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02291:Lipo2
|
APN |
19 |
33,723,192 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02350:Lipo2
|
APN |
19 |
33,708,348 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02357:Lipo2
|
APN |
19 |
33,708,348 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03354:Lipo2
|
APN |
19 |
33,708,270 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0183:Lipo2
|
UTSW |
19 |
33,726,951 (GRCm39) |
splice site |
probably null |
|
|
R0529:Lipo2
|
UTSW |
19 |
33,724,335 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0576:Lipo2
|
UTSW |
19 |
33,726,824 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0579:Lipo2
|
UTSW |
19 |
33,724,298 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0594:Lipo2
|
UTSW |
19 |
33,724,302 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0621:Lipo2
|
UTSW |
19 |
33,708,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1019:Lipo2
|
UTSW |
19 |
33,708,257 (GRCm39) |
nonsense |
probably null |
|
|
R2190:Lipo2
|
UTSW |
19 |
33,725,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2413:Lipo2
|
UTSW |
19 |
33,728,657 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4066:Lipo2
|
UTSW |
19 |
33,698,259 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4258:Lipo2
|
UTSW |
19 |
33,708,328 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4365:Lipo2
|
UTSW |
19 |
33,699,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4491:Lipo2
|
UTSW |
19 |
33,699,100 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4640:Lipo2
|
UTSW |
19 |
33,698,237 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4822:Lipo2
|
UTSW |
19 |
33,723,151 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4872:Lipo2
|
UTSW |
19 |
33,726,914 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5004:Lipo2
|
UTSW |
19 |
33,699,076 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5112:Lipo2
|
UTSW |
19 |
33,725,865 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5440:Lipo2
|
UTSW |
19 |
33,698,258 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5737:Lipo2
|
UTSW |
19 |
33,699,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6209:Lipo2
|
UTSW |
19 |
33,726,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6868:Lipo2
|
UTSW |
19 |
33,725,862 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6893:Lipo2
|
UTSW |
19 |
33,698,407 (GRCm39) |
nonsense |
probably null |
|
|
R7176:Lipo2
|
UTSW |
19 |
33,723,207 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7853:Lipo2
|
UTSW |
19 |
33,737,344 (GRCm39) |
start gained |
probably benign |
|
|
R8092:Lipo2
|
UTSW |
19 |
33,726,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8101:Lipo2
|
UTSW |
19 |
33,698,394 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8464:Lipo2
|
UTSW |
19 |
33,726,023 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8958:Lipo2
|
UTSW |
19 |
33,698,361 (GRCm39) |
nonsense |
probably null |
|
|
R8968:Lipo2
|
UTSW |
19 |
33,726,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9752:Lipo2
|
UTSW |
19 |
33,723,221 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
X0052:Lipo2
|
UTSW |
19 |
33,698,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Lipo2
|
UTSW |
19 |
33,699,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation