Incidental Mutation 'IGL01449:Lpcat2'
ID |
84552 |
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 # |
IGL01449
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
93581967-93645907 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 93597775 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 180
(R180Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147941
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046290]
[ENSMUST00000209265]
[ENSMUST00000210099]
|
AlphaFold |
Q8BYI6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046290
AA Change: R180Q
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000049252 Gene: ENSMUSG00000033192 AA Change: R180Q
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: ENSMUST00000130471
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209265
AA Change: R180Q
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210099
AA Change: R180Q
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030K09Rik |
A |
T |
8: 73,198,693 (GRCm39) |
L33F |
probably benign |
Het |
Actr8 |
T |
C |
14: 29,712,927 (GRCm39) |
|
probably null |
Het |
Aldh16a1 |
C |
A |
7: 44,791,391 (GRCm39) |
A105S |
probably damaging |
Het |
Angpt2 |
T |
C |
8: 18,760,641 (GRCm39) |
T154A |
probably benign |
Het |
BC051665 |
A |
G |
13: 60,930,518 (GRCm39) |
V278A |
probably damaging |
Het |
Cap1 |
T |
C |
4: 122,753,980 (GRCm39) |
T458A |
probably damaging |
Het |
Clcn3 |
A |
T |
8: 61,387,632 (GRCm39) |
S179T |
probably damaging |
Het |
Cyp2a22 |
T |
C |
7: 26,632,978 (GRCm39) |
D408G |
probably benign |
Het |
Fam217b |
T |
A |
2: 178,062,943 (GRCm39) |
S302R |
probably damaging |
Het |
Fcho2 |
A |
T |
13: 98,926,315 (GRCm39) |
D89E |
probably benign |
Het |
Fnip1 |
C |
T |
11: 54,390,334 (GRCm39) |
R434C |
probably damaging |
Het |
Gga3 |
G |
A |
11: 115,479,928 (GRCm39) |
T261M |
probably damaging |
Het |
Gm21985 |
T |
C |
2: 112,169,741 (GRCm39) |
F292L |
probably damaging |
Het |
Gm43638 |
A |
T |
5: 87,634,074 (GRCm39) |
S178T |
possibly damaging |
Het |
Igkv10-95 |
G |
A |
6: 68,657,748 (GRCm39) |
G68E |
probably damaging |
Het |
Katnip |
T |
A |
7: 125,469,857 (GRCm39) |
V1442D |
probably damaging |
Het |
Muc6 |
C |
T |
7: 141,218,527 (GRCm39) |
A1984T |
possibly damaging |
Het |
Npy4r |
T |
A |
14: 33,868,322 (GRCm39) |
Y322F |
probably damaging |
Het |
Nwd2 |
T |
A |
5: 63,962,937 (GRCm39) |
H840Q |
probably damaging |
Het |
Or7g26 |
G |
A |
9: 19,230,529 (GRCm39) |
G233D |
probably damaging |
Het |
Osbpl2 |
G |
T |
2: 179,786,987 (GRCm39) |
|
probably benign |
Het |
Pclo |
T |
A |
5: 14,728,530 (GRCm39) |
|
probably benign |
Het |
Pold4 |
T |
C |
19: 4,282,921 (GRCm39) |
|
probably benign |
Het |
Ppp1r16a |
A |
G |
15: 76,578,494 (GRCm39) |
|
probably benign |
Het |
Pprc1 |
C |
T |
19: 46,053,671 (GRCm39) |
|
probably benign |
Het |
Prkcg |
A |
G |
7: 3,368,135 (GRCm39) |
D343G |
probably benign |
Het |
Scaf11 |
A |
C |
15: 96,317,007 (GRCm39) |
S852R |
probably benign |
Het |
Slc31a2 |
C |
T |
4: 62,210,933 (GRCm39) |
T22I |
probably damaging |
Het |
Sox30 |
T |
A |
11: 45,872,169 (GRCm39) |
D341E |
probably damaging |
Het |
Tle4 |
A |
G |
19: 14,442,704 (GRCm39) |
S339P |
probably benign |
Het |
Tsg101 |
A |
T |
7: 46,558,673 (GRCm39) |
Y78N |
probably damaging |
Het |
Ttc1 |
T |
A |
11: 43,629,630 (GRCm39) |
S179C |
probably damaging |
Het |
Txnrd3 |
T |
A |
6: 89,631,129 (GRCm39) |
S142T |
probably benign |
Het |
Ubr4 |
C |
A |
4: 139,140,047 (GRCm39) |
A1210E |
probably damaging |
Het |
Uroc1 |
C |
A |
6: 90,315,635 (GRCm39) |
P172Q |
probably damaging |
Het |
Usp12 |
T |
C |
5: 146,691,250 (GRCm39) |
D168G |
probably benign |
Het |
Vmn1r32 |
T |
A |
6: 66,529,916 (GRCm39) |
M287L |
probably benign |
Het |
Vwa8 |
C |
T |
14: 79,420,428 (GRCm39) |
Q1710* |
probably null |
Het |
Wdfy4 |
T |
A |
14: 32,825,994 (GRCm39) |
Q1219L |
probably damaging |
Het |
Zbtb17 |
A |
G |
4: 141,190,616 (GRCm39) |
T145A |
probably benign |
Het |
Zfp697 |
T |
C |
3: 98,334,846 (GRCm39) |
C204R |
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 |
IGL00911:Lpcat2
|
APN |
8 |
93,617,338 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2013-11-11 |