Incidental Mutation 'R5737:Lipo2'
| ID |
444600 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lipo2
|
| Ensembl Gene |
ENSMUSG00000087303 |
| Gene Name |
lipase, member O2 |
| Synonyms |
Gm8981 |
| MMRRC Submission |
043195-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R5737 (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 C
at 33699096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 311
(N311K)
|
| 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: N311K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118907
Gene: ENSMUSG00000087303
AA Change: N311K
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833439L19Rik |
A |
G |
13: 54,707,055 (GRCm39) |
V78A |
probably damaging |
Het |
| Albfm1 |
G |
T |
5: 90,720,642 (GRCm39) |
C271F |
probably damaging |
Het |
| Aldh1l2 |
T |
A |
10: 83,356,189 (GRCm39) |
D67V |
probably damaging |
Het |
| Ankfy1 |
T |
A |
11: 72,623,100 (GRCm39) |
D253E |
probably damaging |
Het |
| Arhgap42 |
T |
C |
9: 9,059,069 (GRCm39) |
K159R |
probably damaging |
Het |
| Atrnl1 |
C |
T |
19: 57,766,320 (GRCm39) |
A1219V |
possibly damaging |
Het |
| Cacna1c |
C |
T |
6: 118,718,893 (GRCm39) |
V386I |
probably damaging |
Het |
| Cacna2d2 |
A |
G |
9: 107,403,946 (GRCm39) |
T1015A |
possibly damaging |
Het |
| Cadps2 |
T |
C |
6: 23,328,804 (GRCm39) |
M999V |
probably benign |
Het |
| Ccer1 |
A |
T |
10: 97,530,546 (GRCm39) |
H403L |
possibly damaging |
Het |
| Cubn |
A |
T |
2: 13,393,702 (GRCm39) |
I1433N |
probably damaging |
Het |
| Dcbld2 |
T |
C |
16: 58,281,348 (GRCm39) |
V531A |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 118,156,125 (GRCm39) |
V175A |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,658,421 (GRCm39) |
K920R |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dscaml1 |
C |
T |
9: 45,656,483 (GRCm39) |
R1608C |
probably damaging |
Het |
| Gtf3c2 |
A |
G |
5: 31,325,593 (GRCm39) |
|
probably null |
Het |
| Heca |
A |
T |
10: 17,791,462 (GRCm39) |
M198K |
possibly damaging |
Het |
| Igkv8-24 |
A |
T |
6: 70,194,122 (GRCm39) |
S29T |
probably benign |
Het |
| Lmo7 |
T |
G |
14: 102,124,672 (GRCm39) |
I266S |
probably damaging |
Het |
| Naip2 |
T |
A |
13: 100,298,362 (GRCm39) |
E558V |
probably benign |
Het |
| Nelfa |
T |
A |
5: 34,056,457 (GRCm39) |
|
probably null |
Het |
| Phka2 |
ACC |
AC |
X: 159,342,862 (GRCm39) |
|
probably null |
Het |
| Psmg2 |
T |
C |
18: 67,779,107 (GRCm39) |
S92P |
possibly damaging |
Het |
| Rasa2 |
C |
T |
9: 96,452,718 (GRCm39) |
|
probably null |
Het |
| Slc6a3 |
A |
C |
13: 73,692,923 (GRCm39) |
N181T |
probably damaging |
Het |
| Tdrd5 |
A |
G |
1: 156,128,294 (GRCm39) |
M136T |
probably benign |
Het |
| Tmem178b |
A |
C |
6: 40,222,575 (GRCm39) |
M97L |
possibly damaging |
Het |
| Tnfaip8l1 |
A |
G |
17: 56,478,950 (GRCm39) |
D80G |
probably benign |
Het |
| Tomt |
T |
C |
7: 101,549,524 (GRCm39) |
T255A |
probably benign |
Het |
| Uqcc5 |
A |
G |
14: 30,850,676 (GRCm39) |
I22T |
probably benign |
Het |
| Vmn2r26 |
G |
T |
6: 124,016,408 (GRCm39) |
V291F |
probably benign |
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 |
|
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 |
|
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'- GATGCGTTAGACAGTATATCACAG -3'
(R):5'- GAAAATGTACTGGGTTTATGTGAGC -3'
Sequencing Primer
(F):5'- TCACAGTATCATCGTACAAAAGATGC -3'
(R):5'- ATGTGAGCCAATGTGTCAATAC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation