Incidental Mutation 'IGL00911:Lpcat2'
| ID |
28004 |
| 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: 0.100)
|
| Stock # |
IGL00911
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
93581967-93645907 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93617338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 367
(Y367H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046290]
[ENSMUST00000209265]
[ENSMUST00000210099]
|
| AlphaFold |
Q8BYI6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046290
AA Change: Y367H
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000049252
Gene: ENSMUSG00000033192
AA Change: Y367H
| 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 |
probably benign
Transcript: ENSMUST00000209265
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210099
AA Change: Y327H
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afm |
T |
C |
5: 90,673,450 (GRCm39) |
V234A |
probably benign |
Het |
| Alas1 |
T |
A |
9: 106,113,671 (GRCm39) |
I525F |
probably benign |
Het |
| Ambra1 |
T |
A |
2: 91,598,027 (GRCm39) |
|
probably benign |
Het |
| Apbb2 |
G |
A |
5: 66,608,855 (GRCm39) |
T264M |
probably damaging |
Het |
| Arb2a |
T |
A |
13: 78,100,094 (GRCm39) |
|
probably benign |
Het |
| Arhgap40 |
A |
G |
2: 158,376,636 (GRCm39) |
|
probably benign |
Het |
| Chd9 |
C |
T |
8: 91,778,320 (GRCm39) |
P2793L |
probably damaging |
Het |
| Clstn1 |
T |
G |
4: 149,727,648 (GRCm39) |
|
probably benign |
Het |
| Cyp2f2 |
T |
C |
7: 26,821,354 (GRCm39) |
V13A |
probably damaging |
Het |
| Dnah1 |
C |
T |
14: 31,026,391 (GRCm39) |
|
probably null |
Het |
| Eogt |
A |
T |
6: 97,096,961 (GRCm39) |
V349E |
probably damaging |
Het |
| Epb41 |
T |
C |
4: 131,717,095 (GRCm39) |
D353G |
possibly damaging |
Het |
| Fbxo38 |
T |
A |
18: 62,663,871 (GRCm39) |
I207F |
possibly damaging |
Het |
| Frem2 |
T |
C |
3: 53,479,883 (GRCm39) |
S1937G |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Kcnh3 |
G |
T |
15: 99,130,882 (GRCm39) |
G500* |
probably null |
Het |
| Khdc1b |
A |
T |
1: 21,454,578 (GRCm39) |
K94* |
probably null |
Het |
| Lrrd1 |
A |
C |
5: 3,915,689 (GRCm39) |
N762T |
probably benign |
Het |
| Mbl2 |
T |
A |
19: 30,215,794 (GRCm39) |
D100E |
possibly damaging |
Het |
| Mthfr |
T |
G |
4: 148,125,759 (GRCm39) |
S31A |
probably benign |
Het |
| Nrp1 |
T |
A |
8: 129,202,688 (GRCm39) |
S558T |
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 90,171,366 (GRCm39) |
L1254P |
probably damaging |
Het |
| Or2ag12 |
A |
T |
7: 106,277,040 (GRCm39) |
Y218N |
probably damaging |
Het |
| Pabpc1l |
C |
A |
2: 163,884,343 (GRCm39) |
T360K |
probably damaging |
Het |
| Pcgf1 |
G |
A |
6: 83,057,606 (GRCm39) |
G92S |
probably damaging |
Het |
| Penk |
T |
C |
4: 4,134,347 (GRCm39) |
Y100C |
probably damaging |
Het |
| Pik3r1 |
T |
C |
13: 101,894,169 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,187,971 (GRCm39) |
T3446S |
probably benign |
Het |
| Plcg2 |
G |
A |
8: 118,313,254 (GRCm39) |
D473N |
probably benign |
Het |
| Poll |
G |
T |
19: 45,542,040 (GRCm39) |
T422K |
probably damaging |
Het |
| Skint3 |
T |
A |
4: 112,113,106 (GRCm39) |
|
probably benign |
Het |
| Stab2 |
C |
A |
10: 86,805,617 (GRCm39) |
C243F |
probably damaging |
Het |
| Supt6 |
T |
C |
11: 78,122,007 (GRCm39) |
E215G |
possibly damaging |
Het |
| Tas1r2 |
C |
A |
4: 139,387,602 (GRCm39) |
P354T |
probably benign |
Het |
| Tenm2 |
G |
A |
11: 35,899,560 (GRCm39) |
Q2533* |
probably null |
Het |
| Tmem121 |
C |
T |
12: 113,151,851 (GRCm39) |
A23V |
probably damaging |
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 |
|
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 |
|
IGL02041:Lpcat2
|
APN |
8 |
93,644,809 (GRCm39) |
missense |
probably benign |
0.04 |
|
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 |
2013-04-17 |
Incidental Mutation