Incidental Mutation 'R0576:Lipo2'
| ID |
56249 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lipo2
|
| Ensembl Gene |
ENSMUSG00000087303 |
| Gene Name |
lipase, member O2 |
| Synonyms |
Gm8981 |
| MMRRC Submission |
038766-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R0576 (G1)
|
| Quality Score |
86 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
33697070-33728759 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 33726824 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 71
(S71N)
|
| 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 |
probably benign
Transcript: ENSMUST00000147153
AA Change: S71N
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000118907
Gene: ENSMUSG00000087303
AA Change: S71N
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.6%
- 20x: 94.9%
|
| Validation Efficiency |
92% (47/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc77 |
T |
A |
6: 120,308,809 (GRCm39) |
L335F |
probably benign |
Het |
| Ccr3 |
T |
A |
9: 123,829,046 (GRCm39) |
F127Y |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,785,579 (GRCm39) |
N437S |
probably benign |
Het |
| Cfh |
A |
G |
1: 140,064,553 (GRCm39) |
V365A |
probably damaging |
Het |
| Copg1 |
T |
A |
6: 87,874,945 (GRCm39) |
V380D |
probably damaging |
Het |
| Cxxc1 |
T |
C |
18: 74,353,256 (GRCm39) |
I497T |
possibly damaging |
Het |
| Disp3 |
G |
A |
4: 148,326,047 (GRCm39) |
T1237I |
possibly damaging |
Het |
| Dnaaf9 |
A |
T |
2: 130,555,390 (GRCm39) |
F839L |
probably benign |
Het |
| Dnah7a |
A |
T |
1: 53,675,246 (GRCm39) |
F360L |
probably benign |
Het |
| Dnhd1 |
C |
T |
7: 105,363,252 (GRCm39) |
A3938V |
probably damaging |
Het |
| Eif4g1 |
A |
G |
16: 20,502,818 (GRCm39) |
D1000G |
probably damaging |
Het |
| Emsy |
A |
T |
7: 98,242,983 (GRCm39) |
V1052D |
probably damaging |
Het |
| Ep400 |
A |
G |
5: 110,858,959 (GRCm39) |
|
probably benign |
Het |
| Fa2h |
T |
C |
8: 112,082,779 (GRCm39) |
H146R |
probably damaging |
Het |
| Gad1 |
G |
A |
2: 70,424,996 (GRCm39) |
C430Y |
probably benign |
Het |
| Gtse1 |
T |
C |
15: 85,753,252 (GRCm39) |
S456P |
probably damaging |
Het |
| Gucy2g |
T |
C |
19: 55,187,202 (GRCm39) |
T1073A |
probably damaging |
Het |
| Hectd2 |
T |
G |
19: 36,562,897 (GRCm39) |
N3K |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,525,768 (GRCm39) |
C3318* |
probably null |
Het |
| Mynn |
G |
T |
3: 30,661,217 (GRCm39) |
D100Y |
probably damaging |
Het |
| Myo16 |
G |
A |
8: 10,612,318 (GRCm39) |
|
probably null |
Het |
| Npr2 |
G |
T |
4: 43,640,947 (GRCm39) |
K384N |
probably benign |
Het |
| Nrde2 |
A |
G |
12: 100,098,492 (GRCm39) |
V725A |
possibly damaging |
Het |
| Or11h23 |
T |
A |
14: 50,948,661 (GRCm39) |
S291R |
probably damaging |
Het |
| Or2l13 |
A |
G |
16: 19,305,938 (GRCm39) |
M117V |
probably damaging |
Het |
| Otud7a |
C |
T |
7: 63,335,266 (GRCm39) |
P101S |
possibly damaging |
Het |
| Pcdhb7 |
T |
A |
18: 37,475,410 (GRCm39) |
L182Q |
probably benign |
Het |
| Pdss1 |
A |
G |
2: 22,805,425 (GRCm39) |
|
probably null |
Het |
| Ppargc1b |
T |
A |
18: 61,444,512 (GRCm39) |
H233L |
probably damaging |
Het |
| Ppm1b |
A |
G |
17: 85,320,987 (GRCm39) |
|
probably null |
Het |
| Prdm14 |
A |
T |
1: 13,195,949 (GRCm39) |
S37R |
possibly damaging |
Het |
| Prss45 |
A |
G |
9: 110,667,497 (GRCm39) |
T39A |
probably benign |
Het |
| Qars1 |
T |
C |
9: 108,392,161 (GRCm39) |
|
probably benign |
Het |
| Rxfp2 |
T |
G |
5: 149,961,712 (GRCm39) |
H77Q |
probably benign |
Het |
| Scd4 |
A |
G |
19: 44,329,685 (GRCm39) |
M219V |
probably benign |
Het |
| Sec24b |
G |
T |
3: 129,834,985 (GRCm39) |
P71Q |
probably benign |
Het |
| Snd1 |
T |
G |
6: 28,886,576 (GRCm39) |
V861G |
probably benign |
Het |
| Sspo |
A |
G |
6: 48,441,876 (GRCm39) |
|
probably null |
Het |
| Tas2r129 |
A |
G |
6: 132,928,497 (GRCm39) |
T145A |
probably benign |
Het |
| Tbc1d31 |
T |
A |
15: 57,833,120 (GRCm39) |
I953N |
possibly damaging |
Het |
| Tlr4 |
A |
G |
4: 66,757,732 (GRCm39) |
N175S |
probably benign |
Het |
| Tspyl4 |
A |
G |
10: 34,174,518 (GRCm39) |
N337D |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,642,545 (GRCm39) |
L13330H |
probably damaging |
Het |
| Usp33 |
T |
A |
3: 152,089,756 (GRCm39) |
Y765* |
probably null |
Het |
| Vmn2r59 |
T |
A |
7: 41,696,529 (GRCm39) |
Y71F |
probably benign |
Het |
| Zbed6 |
A |
G |
1: 133,585,576 (GRCm39) |
F587S |
probably benign |
Het |
| Zfhx4 |
T |
C |
3: 5,467,161 (GRCm39) |
S2465P |
probably damaging |
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 |
|
IGL02560: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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAATGCTAGGTTCTTTTAAGCCCCAG -3'
(R):5'- TGGCTGCATCTCTTACAATCTGAACAG -3'
Sequencing Primer
(F):5'- CAGCATTAATCGTGGGCATC -3'
(R):5'- TCTCTTACAATCTGAACAGTGACCAG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation