Incidental Mutation 'R4401:Lpcat2'
| ID |
326634 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lpcat2
|
| Ensembl Gene |
ENSMUSG00000033192 |
| Gene Name |
lysophosphatidylcholine acyltransferase 2 |
| Synonyms |
LPCAT2, Aytl1, Aytl1a, lysoPAFAT/LPCAT2 |
| MMRRC Submission |
041132-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R4401 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
93581967-93645907 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93599683 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 217
(V217A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046290]
[ENSMUST00000209265]
[ENSMUST00000210099]
|
| AlphaFold |
Q8BYI6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046290
AA Change: V217A
PolyPhen 2
Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000049252
Gene: ENSMUSG00000033192
AA Change: V217A
| 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 |
probably benign
Transcript: ENSMUST00000209265
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210099
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
G |
5: 8,752,390 (GRCm39) |
I454V |
possibly damaging |
Het |
| Acvr2a |
A |
G |
2: 48,789,714 (GRCm39) |
T486A |
probably benign |
Het |
| Ap3b1 |
C |
A |
13: 94,554,607 (GRCm39) |
L248I |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 4,990,145 (GRCm39) |
C157S |
probably damaging |
Het |
| Cage1 |
T |
A |
13: 38,207,078 (GRCm39) |
I256F |
probably damaging |
Het |
| Cct2 |
A |
G |
10: 116,893,714 (GRCm39) |
I287T |
possibly damaging |
Het |
| Cntn4 |
A |
G |
6: 106,466,625 (GRCm39) |
T176A |
possibly damaging |
Het |
| Cracd |
G |
A |
5: 76,996,763 (GRCm39) |
V74I |
probably damaging |
Het |
| Cyp2c54 |
T |
C |
19: 40,060,615 (GRCm39) |
N122S |
probably benign |
Het |
| Cytip |
T |
C |
2: 58,023,947 (GRCm39) |
D291G |
probably benign |
Het |
| Eef1d |
C |
T |
15: 75,774,769 (GRCm39) |
V213I |
probably benign |
Het |
| Fnbp4 |
A |
G |
2: 90,577,102 (GRCm39) |
T145A |
possibly damaging |
Het |
| Fras1 |
C |
A |
5: 96,790,479 (GRCm39) |
T951K |
probably damaging |
Het |
| Gm11937 |
C |
T |
11: 99,500,901 (GRCm39) |
V39M |
probably damaging |
Het |
| Gm6712 |
C |
T |
17: 17,538,366 (GRCm39) |
|
noncoding transcript |
Het |
| Hira |
A |
G |
16: 18,744,470 (GRCm39) |
I352V |
probably damaging |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Mroh2a |
G |
T |
1: 88,182,657 (GRCm39) |
R1195L |
possibly damaging |
Het |
| Or2a25 |
G |
T |
6: 42,889,260 (GRCm39) |
E268* |
probably null |
Het |
| Or4k35 |
A |
G |
2: 111,100,178 (GRCm39) |
F178S |
probably damaging |
Het |
| Or51f5 |
C |
T |
7: 102,424,006 (GRCm39) |
R92* |
probably null |
Het |
| Pla2g1b |
T |
A |
5: 115,608,947 (GRCm39) |
Y47* |
probably null |
Het |
| Rfng |
A |
T |
11: 120,673,306 (GRCm39) |
V245E |
possibly damaging |
Het |
| Rpf2 |
A |
G |
10: 40,112,124 (GRCm39) |
V104A |
possibly damaging |
Het |
| Rps6kc1 |
G |
T |
1: 190,532,155 (GRCm39) |
H616N |
probably benign |
Het |
| Slc66a1 |
T |
C |
4: 139,033,854 (GRCm39) |
I22V |
probably benign |
Het |
| Slc9b2 |
T |
C |
3: 135,042,305 (GRCm39) |
V528A |
probably benign |
Het |
| Srgap1 |
T |
C |
10: 121,640,826 (GRCm39) |
|
probably null |
Het |
| Trrap |
A |
G |
5: 144,780,128 (GRCm39) |
T3240A |
possibly damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Zfhx4 |
C |
A |
3: 5,468,405 (GRCm39) |
Y2854* |
probably null |
Het |
| Zfp986 |
C |
T |
4: 145,625,513 (GRCm39) |
R58C |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTACAAGAAACGTGCGGAC -3'
(R):5'- GCATACGTTCTGTGGAATCAC -3'
Sequencing Primer
(F):5'- CGGACAGCATATTCTAGAAACTAAG -3'
(R):5'- TCACAGCATCAGAAAGATTTTATCAG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation