Incidental Mutation 'IGL02041:Lpcat2'
| ID |
184747 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lpcat2
|
| Ensembl Gene |
ENSMUSG00000033192 |
| Gene Name |
lysophosphatidylcholine acyltransferase 2 |
| Synonyms |
LPCAT2, Aytl1, Aytl1a, lysoPAFAT/LPCAT2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
IGL02041
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
93581967-93645907 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93644809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 533
(S533G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046290]
[ENSMUST00000209265]
[ENSMUST00000210099]
|
| AlphaFold |
Q8BYI6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046290
AA Change: S533G
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000049252
Gene: ENSMUSG00000033192
AA Change: S533G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
12 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
45 |
N/A |
INTRINSIC |
|
transmembrane domain
|
59 |
81 |
N/A |
INTRINSIC |
|
PlsC
|
140 |
251 |
2.78e-22 |
SMART |
|
Blast:PlsC
|
284 |
326 |
3e-19 |
BLAST |
|
EFh
|
395 |
423 |
4.49e-4 |
SMART |
|
EFh
|
432 |
460 |
6.11e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000116963
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151106
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209265
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210099
AA Change: S493G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the lysophospholipid acyltransferase family. The encoded enzyme may function in two ways: to catalyze the biosynthesis of platelet-activating factor (1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine) from 1-O-alkyl-sn-glycero-3-phosphocholine, and to catalyze the synthesis of glycerophospholipid precursors from arachidonyl-CoA and lysophosphatidylcholine. The encoded protein may function in membrane biogenesis and production of platelet-activating factor in inflammatory cells. The enzyme may localize to the endoplasmic reticulum and the Golgi. [provided by RefSeq, Feb 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
T |
19: 43,772,674 (GRCm39) |
Q28L |
probably damaging |
Het |
| Abtb3 |
G |
A |
10: 85,223,418 (GRCm39) |
D76N |
unknown |
Het |
| Afg1l |
A |
G |
10: 42,330,376 (GRCm39) |
V97A |
probably damaging |
Het |
| Akap6 |
A |
C |
12: 53,187,436 (GRCm39) |
S1617R |
probably damaging |
Het |
| Aldh1a3 |
T |
C |
7: 66,057,579 (GRCm39) |
N285D |
probably damaging |
Het |
| Arhgap20 |
A |
T |
9: 51,757,490 (GRCm39) |
N494I |
possibly damaging |
Het |
| Atg9a |
G |
T |
1: 75,159,748 (GRCm39) |
Q712K |
possibly damaging |
Het |
| Cdcp2 |
G |
A |
4: 106,964,386 (GRCm39) |
|
probably benign |
Het |
| Cds2 |
T |
A |
2: 132,136,363 (GRCm39) |
I84N |
possibly damaging |
Het |
| Clcn3 |
T |
C |
8: 61,376,187 (GRCm39) |
I596V |
probably damaging |
Het |
| Ctxn1 |
A |
G |
8: 4,308,514 (GRCm39) |
L39P |
probably damaging |
Het |
| Efhb |
A |
T |
17: 53,733,287 (GRCm39) |
V528D |
probably damaging |
Het |
| Fmod |
T |
G |
1: 133,968,001 (GRCm39) |
S14A |
probably benign |
Het |
| Foxh1 |
A |
G |
15: 76,553,120 (GRCm39) |
F198S |
probably damaging |
Het |
| Gcc2 |
A |
G |
10: 58,105,103 (GRCm39) |
E77G |
probably damaging |
Het |
| Gm5420 |
G |
T |
10: 21,566,933 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6434 |
T |
G |
7: 25,581,655 (GRCm39) |
|
noncoding transcript |
Het |
| Il1b |
A |
T |
2: 129,211,662 (GRCm39) |
N19K |
possibly damaging |
Het |
| Lama2 |
T |
A |
10: 26,860,322 (GRCm39) |
D3055V |
probably damaging |
Het |
| Lcn3 |
G |
A |
2: 25,655,636 (GRCm39) |
V18I |
probably benign |
Het |
| Map4k2 |
G |
A |
19: 6,401,348 (GRCm39) |
R606Q |
probably benign |
Het |
| Mtnr1b |
T |
C |
9: 15,774,589 (GRCm39) |
T157A |
probably benign |
Het |
| Myo15a |
G |
A |
11: 60,397,689 (GRCm39) |
E2705K |
probably damaging |
Het |
| Ncf2 |
A |
G |
1: 152,711,871 (GRCm39) |
|
probably benign |
Het |
| Nfkbil1 |
G |
A |
17: 35,439,934 (GRCm39) |
T193M |
probably benign |
Het |
| Nmi |
T |
G |
2: 51,850,641 (GRCm39) |
K9T |
possibly damaging |
Het |
| Or2d4 |
T |
C |
7: 106,543,320 (GRCm39) |
D296G |
possibly damaging |
Het |
| Or5p69 |
T |
C |
7: 107,966,742 (GRCm39) |
F15S |
probably damaging |
Het |
| Or6c6c |
A |
G |
10: 129,541,104 (GRCm39) |
D119G |
probably damaging |
Het |
| Osbpl7 |
T |
A |
11: 96,951,334 (GRCm39) |
C502S |
probably benign |
Het |
| Pex5 |
A |
T |
6: 124,382,240 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,356,452 (GRCm39) |
|
probably null |
Het |
| Prmt3 |
C |
T |
7: 49,478,711 (GRCm39) |
T424M |
possibly damaging |
Het |
| Rapgef4 |
G |
A |
2: 72,029,140 (GRCm39) |
G404D |
probably damaging |
Het |
| Rbm5 |
C |
T |
9: 107,633,045 (GRCm39) |
|
probably benign |
Het |
| Rfc2 |
T |
A |
5: 134,623,098 (GRCm39) |
F238L |
probably benign |
Het |
| Rsl1 |
A |
G |
13: 67,324,612 (GRCm39) |
E46G |
probably damaging |
Het |
| Sall1 |
A |
G |
8: 89,758,097 (GRCm39) |
F669S |
probably damaging |
Het |
| Sipa1l2 |
A |
G |
8: 126,218,558 (GRCm39) |
S260P |
probably benign |
Het |
| Slc26a8 |
A |
G |
17: 28,861,225 (GRCm39) |
Y820H |
probably damaging |
Het |
| Tas2r115 |
A |
G |
6: 132,714,430 (GRCm39) |
F174L |
probably benign |
Het |
| Terb1 |
A |
C |
8: 105,221,746 (GRCm39) |
C185G |
probably damaging |
Het |
| Vmn2r108 |
A |
T |
17: 20,683,398 (GRCm39) |
V602E |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,514,703 (GRCm39) |
I89F |
probably damaging |
Het |
| Vps13b |
G |
T |
15: 35,423,391 (GRCm39) |
R237L |
probably damaging |
Het |
| Zfp865 |
T |
C |
7: 5,034,372 (GRCm39) |
S786P |
probably benign |
Het |
|
| Other mutations in Lpcat2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00737:Lpcat2
|
APN |
8 |
93,635,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00823:Lpcat2
|
APN |
8 |
93,591,598 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL00911:Lpcat2
|
APN |
8 |
93,617,338 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01449:Lpcat2
|
APN |
8 |
93,597,775 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01951:Lpcat2
|
APN |
8 |
93,644,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02491:Lpcat2
|
APN |
8 |
93,600,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02957:Lpcat2
|
APN |
8 |
93,602,212 (GRCm39) |
nonsense |
probably null |
|
|
R0960:Lpcat2
|
UTSW |
8 |
93,596,338 (GRCm39) |
missense |
probably benign |
|
|
R1236:Lpcat2
|
UTSW |
8 |
93,613,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1422:Lpcat2
|
UTSW |
8 |
93,606,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1677:Lpcat2
|
UTSW |
8 |
93,591,560 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2048:Lpcat2
|
UTSW |
8 |
93,596,471 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3712:Lpcat2
|
UTSW |
8 |
93,644,798 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R3919:Lpcat2
|
UTSW |
8 |
93,640,902 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3951:Lpcat2
|
UTSW |
8 |
93,591,531 (GRCm39) |
missense |
probably benign |
|
|
R4357:Lpcat2
|
UTSW |
8 |
93,599,734 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4358:Lpcat2
|
UTSW |
8 |
93,599,734 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4359:Lpcat2
|
UTSW |
8 |
93,599,734 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4401:Lpcat2
|
UTSW |
8 |
93,599,683 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4584:Lpcat2
|
UTSW |
8 |
93,615,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5089:Lpcat2
|
UTSW |
8 |
93,606,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5127:Lpcat2
|
UTSW |
8 |
93,635,819 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5185:Lpcat2
|
UTSW |
8 |
93,596,365 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6380:Lpcat2
|
UTSW |
8 |
93,613,209 (GRCm39) |
missense |
probably benign |
|
|
R6974:Lpcat2
|
UTSW |
8 |
93,599,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7171:Lpcat2
|
UTSW |
8 |
93,635,894 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7344:Lpcat2
|
UTSW |
8 |
93,602,195 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7356:Lpcat2
|
UTSW |
8 |
93,591,611 (GRCm39) |
missense |
probably benign |
|
|
R7684:Lpcat2
|
UTSW |
8 |
93,635,823 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7834:Lpcat2
|
UTSW |
8 |
93,644,729 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7981:Lpcat2
|
UTSW |
8 |
93,582,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7992:Lpcat2
|
UTSW |
8 |
93,582,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8679:Lpcat2
|
UTSW |
8 |
93,635,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8815:Lpcat2
|
UTSW |
8 |
93,640,979 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8916:Lpcat2
|
UTSW |
8 |
93,596,316 (GRCm39) |
missense |
probably benign |
|
|
R9048:Lpcat2
|
UTSW |
8 |
93,635,878 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation