Incidental Mutation 'R4640:Lipo2'
| ID |
351628 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lipo2
|
| Ensembl Gene |
ENSMUSG00000087303 |
| Gene Name |
lipase, member O2 |
| Synonyms |
Gm8981 |
| MMRRC Submission |
041902-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R4640 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
33697070-33728759 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33698237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 380
(E380G)
|
| 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: E380G
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000118907
Gene: ENSMUSG00000087303
AA Change: E380G
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
93% (39/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adgrl4 |
T |
C |
3: 151,205,947 (GRCm39) |
|
probably benign |
Het |
| Ano4 |
C |
T |
10: 88,790,559 (GRCm39) |
A847T |
probably damaging |
Het |
| Atp11a |
A |
G |
8: 12,878,434 (GRCm39) |
|
probably benign |
Het |
| Cct4 |
T |
A |
11: 22,952,297 (GRCm39) |
S463T |
probably benign |
Het |
| Cfap251 |
G |
T |
5: 123,440,495 (GRCm39) |
V1094L |
probably benign |
Het |
| Cnmd |
T |
C |
14: 79,894,093 (GRCm39) |
N98S |
probably damaging |
Het |
| Copz2 |
A |
T |
11: 96,747,533 (GRCm39) |
Q172L |
possibly damaging |
Het |
| Ctdp1 |
C |
A |
18: 80,494,369 (GRCm39) |
|
probably null |
Het |
| Cyfip1 |
C |
T |
7: 55,563,199 (GRCm39) |
T865I |
possibly damaging |
Het |
| Cyp2c37 |
A |
T |
19: 40,000,276 (GRCm39) |
D466V |
possibly damaging |
Het |
| Dytn |
A |
G |
1: 63,682,507 (GRCm39) |
L380P |
possibly damaging |
Het |
| Fam124b |
G |
A |
1: 80,191,243 (GRCm39) |
R47C |
probably damaging |
Het |
| Foxe3 |
G |
A |
4: 114,782,972 (GRCm39) |
A80V |
probably damaging |
Het |
| Gm5884 |
A |
G |
6: 128,622,734 (GRCm39) |
|
noncoding transcript |
Het |
| Kera |
A |
T |
10: 97,448,749 (GRCm39) |
Y323F |
probably damaging |
Het |
| Lipf |
A |
T |
19: 33,946,197 (GRCm39) |
Y205F |
probably damaging |
Het |
| Mcm2 |
A |
T |
6: 88,864,786 (GRCm39) |
H563Q |
possibly damaging |
Het |
| Mindy3 |
T |
C |
2: 12,352,974 (GRCm39) |
E409G |
probably benign |
Het |
| Mns1 |
A |
G |
9: 72,346,564 (GRCm39) |
K16E |
probably benign |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nlrp4g |
T |
C |
9: 124,349,153 (GRCm38) |
|
noncoding transcript |
Het |
| Nrxn1 |
A |
G |
17: 90,868,196 (GRCm39) |
S1105P |
probably damaging |
Het |
| Odf2l |
G |
A |
3: 144,834,706 (GRCm39) |
R186H |
probably damaging |
Het |
| Or13g1 |
T |
A |
7: 85,956,274 (GRCm39) |
T16S |
probably benign |
Het |
| Or2d3c |
T |
C |
7: 106,525,800 (GRCm39) |
I289V |
possibly damaging |
Het |
| Phxr2 |
T |
C |
10: 98,961,931 (GRCm39) |
|
probably benign |
Het |
| Plcxd3 |
T |
C |
15: 4,546,725 (GRCm39) |
F243S |
probably damaging |
Het |
| Ppp1r27 |
T |
C |
11: 120,441,553 (GRCm39) |
N76D |
possibly damaging |
Het |
| Ptprz1 |
A |
G |
6: 22,972,797 (GRCm39) |
T236A |
probably damaging |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| R3hdm1 |
T |
C |
1: 128,102,975 (GRCm39) |
|
probably benign |
Het |
| Sall2 |
T |
A |
14: 52,552,616 (GRCm39) |
Q193L |
probably damaging |
Het |
| Srpk1 |
T |
C |
17: 28,827,698 (GRCm39) |
S39G |
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,564,513 (GRCm39) |
V883A |
probably damaging |
Het |
| Tmem104 |
T |
A |
11: 115,134,550 (GRCm39) |
V362E |
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 |
|
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 |
|
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'- ACACATTCCCTTGATGGTCATAG -3'
(R):5'- ACTCCTCCTGTATACAATGTAGAAG -3'
Sequencing Primer
(F):5'- CCCTTGATGGTCATAGTTTTCAC -3'
(R):5'- GACATGAAGGTTCCAACTGCCATG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation