Incidental Mutation 'R2413:Lipo2'
| ID |
250081 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lipo2
|
| Ensembl Gene |
ENSMUSG00000087303 |
| Gene Name |
lipase, member O2 |
| Synonyms |
Gm8981 |
| MMRRC Submission |
040377-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R2413 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
33697070-33728759 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 33728657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 32
(N32K)
|
| 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 damaging
Transcript: ENSMUST00000147153
AA Change: N32K
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118907
Gene: ENSMUSG00000087303
AA Change: N32K
| 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 |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy7 |
G |
T |
8: 89,036,446 (GRCm39) |
A168S |
probably benign |
Het |
| Aspm |
A |
C |
1: 139,405,495 (GRCm39) |
I1461L |
probably damaging |
Het |
| Bcas3 |
C |
T |
11: 85,422,681 (GRCm39) |
L517F |
probably damaging |
Het |
| Brpf3 |
T |
C |
17: 29,024,924 (GRCm39) |
|
probably benign |
Het |
| Cfap74 |
A |
C |
4: 155,503,081 (GRCm39) |
R24S |
possibly damaging |
Het |
| Clec1a |
T |
A |
6: 129,412,218 (GRCm39) |
S51C |
probably damaging |
Het |
| Cyp2c40 |
G |
T |
19: 39,792,331 (GRCm39) |
C204* |
probably null |
Het |
| Dgki |
C |
A |
6: 36,824,408 (GRCm39) |
R1040L |
possibly damaging |
Het |
| F830016B08Rik |
T |
A |
18: 60,433,365 (GRCm39) |
Y149* |
probably null |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Frmpd1 |
A |
T |
4: 45,278,969 (GRCm39) |
T565S |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,064,290 (GRCm39) |
|
probably null |
Het |
| Ipcef1 |
G |
A |
10: 6,885,225 (GRCm39) |
P92S |
probably damaging |
Het |
| Kctd12 |
T |
A |
14: 103,219,603 (GRCm39) |
I92F |
probably damaging |
Het |
| Kntc1 |
C |
T |
5: 123,902,212 (GRCm39) |
T285I |
probably benign |
Het |
| Mier3 |
T |
C |
13: 111,851,662 (GRCm39) |
|
probably benign |
Het |
| Myd88 |
T |
C |
9: 119,166,484 (GRCm39) |
T277A |
probably benign |
Het |
| Myo3a |
T |
A |
2: 22,467,924 (GRCm39) |
Y1331N |
probably benign |
Het |
| Neb |
C |
A |
2: 52,100,644 (GRCm39) |
W4422L |
probably damaging |
Het |
| Nfasc |
A |
G |
1: 132,523,243 (GRCm39) |
S1019P |
probably damaging |
Het |
| Npepps |
T |
C |
11: 97,131,792 (GRCm39) |
E354G |
probably damaging |
Het |
| Ntrk2 |
G |
T |
13: 59,022,226 (GRCm39) |
R427L |
possibly damaging |
Het |
| Or51g1 |
A |
G |
7: 102,634,009 (GRCm39) |
S121P |
probably damaging |
Het |
| Ptprd |
T |
A |
4: 76,051,437 (GRCm39) |
D262V |
probably damaging |
Het |
| Serpina9 |
C |
T |
12: 103,967,485 (GRCm39) |
|
probably null |
Het |
| Setd2 |
A |
G |
9: 110,376,572 (GRCm39) |
E129G |
probably damaging |
Het |
| Slc29a1 |
A |
G |
17: 45,896,643 (GRCm39) |
L444P |
probably damaging |
Het |
| Synj2 |
C |
A |
17: 6,078,849 (GRCm39) |
P217T |
probably damaging |
Het |
| Tex52 |
T |
C |
6: 128,356,871 (GRCm39) |
L188P |
probably damaging |
Het |
| Tmem63a |
A |
G |
1: 180,788,640 (GRCm39) |
M326V |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,937,252 (GRCm39) |
T2900A |
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 |
|
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'- CTTCCAGGGAGTAGGGATATCTTCTG -3'
(R):5'- CACTGAAGGAATGTTACATAAGGAC -3'
Sequencing Primer
(F):5'- AGTAGGGATATCTTCTGGGGTG -3'
(R):5'- AAAATGCTCTGGCTGCTG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation