Incidental Mutation 'R7981:Lpcat2'
| ID |
651221 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lpcat2
|
| Ensembl Gene |
ENSMUSG00000033192 |
| Gene Name |
lysophosphatidylcholine acyltransferase 2 |
| Synonyms |
LPCAT2, Aytl1, Aytl1a, lysoPAFAT/LPCAT2 |
| MMRRC Submission |
046022-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R7981 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
93581967-93645907 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93582182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 34
(S34P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034187]
[ENSMUST00000046290]
[ENSMUST00000209265]
[ENSMUST00000210099]
[ENSMUST00000211567]
|
| AlphaFold |
Q8BYI6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034187
|
| SMART Domains |
Protein: ENSMUSP00000034187
Gene: ENSMUSG00000031740
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:PG_binding_1
|
43 |
97 |
2.4e-9 |
PFAM |
|
ZnMc
|
115 |
447 |
1.06e-49 |
SMART |
|
FN2
|
226 |
274 |
2.88e-25 |
SMART |
|
FN2
|
284 |
332 |
5.17e-27 |
SMART |
|
FN2
|
342 |
390 |
3.33e-30 |
SMART |
|
HX
|
477 |
520 |
1.13e-4 |
SMART |
|
HX
|
522 |
565 |
1.33e-10 |
SMART |
|
HX
|
570 |
617 |
2.21e-16 |
SMART |
|
HX
|
619 |
662 |
4.29e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046290
AA Change: S34P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049252
Gene: ENSMUSG00000033192
AA Change: S34P
| 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 damaging
Transcript: ENSMUST00000209265
AA Change: S34P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210099
AA Change: S34P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211567
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
T |
A |
3: 59,784,360 (GRCm39) |
F278I |
probably damaging |
Het |
| Abca8a |
T |
C |
11: 109,980,739 (GRCm39) |
T100A |
probably benign |
Het |
| Adam34l |
A |
G |
8: 44,078,850 (GRCm39) |
F458S |
probably damaging |
Het |
| Agbl1 |
A |
G |
7: 76,094,588 (GRCm39) |
T740A |
unknown |
Het |
| Aldh1a2 |
A |
T |
9: 71,171,102 (GRCm39) |
I197F |
probably damaging |
Het |
| Ankrd28 |
T |
C |
14: 31,424,114 (GRCm39) |
T1009A |
probably benign |
Het |
| Antxrl |
T |
C |
14: 33,787,838 (GRCm39) |
V287A |
probably damaging |
Het |
| Baiap2l1 |
G |
A |
5: 144,294,700 (GRCm39) |
|
probably benign |
Het |
| Catsperd |
T |
C |
17: 56,938,562 (GRCm39) |
V30A |
possibly damaging |
Het |
| Ccdc150 |
A |
T |
1: 54,407,551 (GRCm39) |
K1109M |
probably damaging |
Het |
| Ccdc28a |
A |
G |
10: 18,094,127 (GRCm39) |
L164P |
probably benign |
Het |
| Cnot1 |
C |
T |
8: 96,489,797 (GRCm39) |
V469M |
probably damaging |
Het |
| Col16a1 |
T |
G |
4: 129,980,347 (GRCm39) |
|
probably null |
Het |
| Coq9 |
A |
G |
8: 95,569,285 (GRCm39) |
H39R |
probably benign |
Het |
| Crh |
T |
A |
3: 19,748,216 (GRCm39) |
E142V |
probably benign |
Het |
| Depdc1a |
A |
G |
3: 159,226,488 (GRCm39) |
N265S |
probably benign |
Het |
| Dlg5 |
T |
C |
14: 24,208,213 (GRCm39) |
T998A |
probably benign |
Het |
| Epg5 |
T |
C |
18: 78,052,929 (GRCm39) |
|
probably null |
Het |
| Gcc1 |
G |
A |
6: 28,419,140 (GRCm39) |
L398F |
probably benign |
Het |
| Gde1 |
T |
C |
7: 118,288,264 (GRCm39) |
T320A |
probably damaging |
Het |
| Gemin5 |
T |
C |
11: 58,036,231 (GRCm39) |
D704G |
probably damaging |
Het |
| Gfi1 |
G |
A |
5: 107,873,543 (GRCm39) |
|
probably benign |
Het |
| Insc |
A |
G |
7: 114,428,302 (GRCm39) |
T92A |
probably damaging |
Het |
| Krtap6-2 |
T |
C |
16: 89,216,562 (GRCm39) |
Y135C |
unknown |
Het |
| Mansc1 |
T |
C |
6: 134,587,274 (GRCm39) |
D301G |
possibly damaging |
Het |
| Mbl2 |
C |
A |
19: 30,216,737 (GRCm39) |
T183K |
probably damaging |
Het |
| Mri1 |
A |
C |
8: 84,983,792 (GRCm39) |
V33G |
possibly damaging |
Het |
| Mrps7 |
T |
C |
11: 115,497,687 (GRCm39) |
M184T |
possibly damaging |
Het |
| Mug1 |
A |
T |
6: 121,858,723 (GRCm39) |
Y1147F |
probably damaging |
Het |
| N4bp2 |
C |
T |
5: 65,969,485 (GRCm39) |
H1416Y |
probably benign |
Het |
| Naa15 |
T |
C |
3: 51,366,092 (GRCm39) |
F487S |
probably damaging |
Het |
| Nin |
C |
T |
12: 70,089,591 (GRCm39) |
V1275I |
|
Het |
| Or4c116 |
A |
G |
2: 88,942,400 (GRCm39) |
F152S |
probably damaging |
Het |
| Or55b3 |
A |
T |
7: 102,127,036 (GRCm39) |
Y14N |
probably damaging |
Het |
| Pik3c2b |
A |
T |
1: 133,003,547 (GRCm39) |
|
probably null |
Het |
| Pkn1 |
G |
T |
8: 84,407,637 (GRCm39) |
N463K |
probably damaging |
Het |
| Pramel24 |
T |
G |
4: 143,453,452 (GRCm39) |
F187V |
probably benign |
Het |
| Rab11fip3 |
C |
T |
17: 26,216,963 (GRCm39) |
S816N |
probably damaging |
Het |
| Rassf4 |
G |
T |
6: 116,617,218 (GRCm39) |
D262E |
probably damaging |
Het |
| Sec16a |
A |
G |
2: 26,311,384 (GRCm39) |
|
probably null |
Het |
| Sspo |
A |
G |
6: 48,445,428 (GRCm39) |
T2290A |
probably benign |
Het |
| Sumf1 |
A |
G |
6: 108,129,186 (GRCm39) |
|
probably null |
Het |
| Syne1 |
T |
C |
10: 5,179,248 (GRCm39) |
K4409E |
probably benign |
Het |
| Tasor |
T |
C |
14: 27,168,373 (GRCm39) |
V305A |
possibly damaging |
Het |
| Tmco4 |
T |
G |
4: 138,785,772 (GRCm39) |
L614R |
probably damaging |
Het |
| Tmem67 |
G |
T |
4: 12,070,592 (GRCm39) |
N245K |
probably damaging |
Het |
| Trim58 |
T |
C |
11: 58,542,138 (GRCm39) |
V366A |
probably benign |
Het |
| Vmn1r123 |
T |
C |
7: 20,896,914 (GRCm39) |
S269P |
probably damaging |
Het |
| Vmn2r91 |
T |
A |
17: 18,327,887 (GRCm39) |
S494T |
probably benign |
Het |
| Zbtb26 |
T |
A |
2: 37,326,887 (GRCm39) |
I50L |
possibly 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 |
|
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 |
|
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'- TTGGGACTGTGAATTCGGCC -3'
(R):5'- ATTCGCGATCCTCTCAGACG -3'
Sequencing Primer
(F):5'- GTGAATTCGGCCGCTCTC -3'
(R):5'- TCAAATACCTCTCAAGTCCTGATC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation