Incidental Mutation 'R8943:Lpcat1'
ID 681116
Institutional Source Beutler Lab
Gene Symbol Lpcat1
Ensembl Gene ENSMUSG00000021608
Gene Name lysophosphatidylcholine acyltransferase 1
Synonyms 2900035H07Rik, rd11, LPCAT, Aytl2
MMRRC Submission 068782-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R8943 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 73615332-73664539 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73662029 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 409 (T409A)
Ref Sequence ENSEMBL: ENSMUSP00000152190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022099] [ENSMUST00000123766] [ENSMUST00000147566] [ENSMUST00000223060]
AlphaFold Q3TFD2
Predicted Effect probably benign
Transcript: ENSMUST00000022099
AA Change: T457A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000022099
Gene: ENSMUSG00000021608
AA Change: T457A

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
transmembrane domain 53 75 N/A INTRINSIC
PlsC 129 239 2.91e-25 SMART
Blast:PlsC 272 314 7e-9 BLAST
EFh 383 411 5.47e-1 SMART
EFh 420 448 4.98e1 SMART
EFh 455 483 4.93e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123766
SMART Domains Protein: ENSMUSP00000117965
Gene: ENSMUSG00000021608

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147566
Predicted Effect probably benign
Transcript: ENSMUST00000223060
AA Change: T409A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 98% (50/51)
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 1-acyl-sn-glycerol-3-phosphate acyltransferase family of proteins. The encoded enzyme plays a role in phospholipid metabolism, specifically in the conversion of lysophosphatidylcholine to phosphatidylcholine in the presence of acyl-CoA. This process is important in the synthesis of lung surfactant and platelet-activating factor (PAF). Elevated expression of this gene may contribute to the progression of oral squamous cell, prostate, breast, and other human cancers. [provided by RefSeq, Sep 2016]
PHENOTYPE: Some mice homozygous for a gene trapped allele exhibit neonatal lethality associated with respiratory distress, cyanosis, atelectasis, lung hemorrhage, and defective surfactant function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T C 7: 41,275,667 (GRCm39) S457P probably damaging Het
Aak1 A G 6: 86,964,234 (GRCm39) N945S unknown Het
Actr1a C A 19: 46,369,438 (GRCm39) R192L possibly damaging Het
Adgrl2 T A 3: 148,534,119 (GRCm39) N1036I probably damaging Het
Ak5 A G 3: 152,361,511 (GRCm39) V137A probably damaging Het
Aldh1a2 T C 9: 71,169,055 (GRCm39) V179A probably damaging Het
Ap2b1 A T 11: 83,237,579 (GRCm39) I548F probably damaging Het
Arhgef10l A G 4: 140,292,550 (GRCm39) Y352H probably damaging Het
Atad5 C T 11: 79,986,524 (GRCm39) T537M possibly damaging Het
Atoh7 A G 10: 62,935,938 (GRCm39) K2E possibly damaging Het
BC061237 A G 14: 44,741,658 (GRCm39) I134V probably benign Het
Cadm1 T C 9: 47,701,136 (GRCm39) I141T probably damaging Het
Capn10 T C 1: 92,871,454 (GRCm39) S351P probably damaging Het
Cct6b T C 11: 82,654,959 (GRCm39) probably benign Het
Cd19 T C 7: 126,011,330 (GRCm39) T284A probably benign Het
Cfap53 A G 18: 74,432,253 (GRCm39) Y47C probably damaging Het
Cldn18 T C 9: 99,578,162 (GRCm39) M194V probably benign Het
Dgkb T A 12: 38,652,777 (GRCm39) Y721N probably damaging Het
Dmbt1 A G 7: 130,721,372 (GRCm39) Q1880R possibly damaging Het
Dock2 T C 11: 34,599,646 (GRCm39) N311S possibly damaging Het
Dpysl5 G T 5: 30,935,375 (GRCm39) M159I probably benign Het
Eif2b3 G A 4: 116,901,778 (GRCm39) G147E probably damaging Het
Fam193a A G 5: 34,597,796 (GRCm39) D531G probably benign Het
Fndc3b T C 3: 27,555,329 (GRCm39) probably benign Het
Foxe3 C A 4: 114,782,523 (GRCm39) A230S unknown Het
Gm5591 A T 7: 38,219,727 (GRCm39) V382E probably benign Het
Gm7995 A T 14: 42,132,228 (GRCm39) N21I probably damaging Het
Ipo8 G A 6: 148,676,547 (GRCm39) P981S probably benign Het
Kcnh8 A G 17: 53,104,486 (GRCm39) D161G probably benign Het
Krt71 A G 15: 101,645,180 (GRCm39) I377T possibly damaging Het
Krt75 A T 15: 101,476,767 (GRCm39) M374K probably benign Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lrch1 A T 14: 75,032,808 (GRCm39) I514K probably benign Het
Mc4r A C 18: 66,993,110 (GRCm39) M1R probably null Het
Mthfd1l A T 10: 3,978,466 (GRCm39) H442L probably damaging Het
Or5d38 T A 2: 87,954,718 (GRCm39) I204F probably damaging Het
Pdcd1lg2 T C 19: 29,423,553 (GRCm39) M199T probably benign Het
Pigg G A 5: 108,484,066 (GRCm39) V438M probably damaging Het
Pira12 T C 7: 3,898,365 (GRCm39) E319G probably benign Het
Ppfibp1 T A 6: 146,920,681 (GRCm39) probably null Het
Rbm15 T A 3: 107,239,372 (GRCm39) Y342F possibly damaging Het
Rhbdl1 A T 17: 26,054,116 (GRCm39) V278E probably damaging Het
Ryr3 T C 2: 112,465,669 (GRCm39) N4781S probably damaging Het
Scn7a A T 2: 66,525,206 (GRCm39) silent Het
Sfswap A G 5: 129,581,168 (GRCm39) R114G probably damaging Het
Sohlh2 C A 3: 55,104,282 (GRCm39) A258D possibly damaging Het
Sstr4 T A 2: 148,237,782 (GRCm39) V131D possibly damaging Het
Tenm2 T C 11: 36,834,861 (GRCm39) T45A probably damaging Het
Tmem131l A T 3: 83,831,479 (GRCm39) F818I probably damaging Het
Trappc6b A G 12: 59,097,149 (GRCm39) F58L probably damaging Het
Vmn1r229 A T 17: 21,035,418 (GRCm39) H221L possibly damaging Het
Vmn1r33 T A 6: 66,588,783 (GRCm39) Y257F probably damaging Het
Wdfy3 T C 5: 101,993,231 (GRCm39) probably benign Het
Zfp446 C T 7: 12,713,564 (GRCm39) Q177* probably null Het
Zup1 A G 10: 33,795,301 (GRCm39) *552Q probably null Het
Other mutations in Lpcat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01107:Lpcat1 APN 13 73,642,947 (GRCm39) missense probably damaging 0.98
IGL02869:Lpcat1 APN 13 73,632,417 (GRCm39) missense probably damaging 1.00
abajo UTSW 13 73,659,498 (GRCm39) missense probably damaging 1.00
R0064:Lpcat1 UTSW 13 73,662,585 (GRCm39) missense probably damaging 1.00
R1666:Lpcat1 UTSW 13 73,658,242 (GRCm39) critical splice donor site probably null
R3826:Lpcat1 UTSW 13 73,637,212 (GRCm39) missense possibly damaging 0.89
R3829:Lpcat1 UTSW 13 73,637,212 (GRCm39) missense possibly damaging 0.89
R3830:Lpcat1 UTSW 13 73,637,212 (GRCm39) missense possibly damaging 0.89
R4987:Lpcat1 UTSW 13 73,637,222 (GRCm39) critical splice donor site probably null
R6298:Lpcat1 UTSW 13 73,659,074 (GRCm39) missense possibly damaging 0.58
R7066:Lpcat1 UTSW 13 73,659,500 (GRCm39) missense probably benign 0.00
R7165:Lpcat1 UTSW 13 73,662,649 (GRCm39) missense probably benign 0.11
R7552:Lpcat1 UTSW 13 73,643,014 (GRCm39) missense probably damaging 0.99
R7961:Lpcat1 UTSW 13 73,659,498 (GRCm39) missense probably damaging 1.00
R8009:Lpcat1 UTSW 13 73,659,498 (GRCm39) missense probably damaging 1.00
R8247:Lpcat1 UTSW 13 73,662,071 (GRCm39) missense probably damaging 0.98
R8482:Lpcat1 UTSW 13 73,659,044 (GRCm39) missense probably benign 0.14
R9224:Lpcat1 UTSW 13 73,658,161 (GRCm39) missense probably damaging 0.98
R9229:Lpcat1 UTSW 13 73,653,650 (GRCm39) missense probably damaging 0.98
R9332:Lpcat1 UTSW 13 73,659,462 (GRCm39) missense probably damaging 1.00
R9509:Lpcat1 UTSW 13 73,642,951 (GRCm39) missense probably damaging 1.00
R9591:Lpcat1 UTSW 13 73,659,471 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCCAGCTGTTTGAACAAAGTG -3'
(R):5'- TCAGAAGTCCCTGCAGCTTC -3'

Sequencing Primer
(F):5'- CAGCTGTTTGAACAAAGTGGGGTC -3'
(R):5'- AGCTTCTTCAGGGGATCCAG -3'
Posted On 2021-08-31